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  • 1.
    Allyse, Megan A.
    et al.
    Mayo Clin, Rochester, MN USA..
    Meagher, Karen M.
    Mayo Clin, Rochester, MN USA..
    Michie, Marsha
    Case Western Reserve Univ, Cleveland, OH 44106 USA..
    Isasi, Rosario
    Univ Miamis, Coral Gables, FL USA..
    Ormond, Kelly E.
    Swiss Fed Inst Technol, Zurich, Switzerland.;Stanford Univ, Sch Med, Stanford, CA 94305 USA..
    Bonhomme, Natasha
    Genet Alliance, Darlinghurst, NSW, Australia..
    Bombard, Yvonne
    Univ Toronto, Toronto, ON, Canada..
    Howard, Heidi
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Musunuru, Kiran
    Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA..
    Riggan, Kirsten A.
    Mayo Clin, Rochester, MN USA..
    Rubeck, Sabina
    Case Western Reserve Univ, Cleveland, OH 44106 USA..
    Translational Justice in Human Gene Editing: Bringing End User Engagement and Policy Together2023In: American Journal of Bioethics, ISSN 1526-5161, E-ISSN 1536-0075, Vol. 23, no 7, p. 55-58Article in journal (Other academic)
  • 2. Borry, Pascal
    et al.
    Bentzen, Heidi Beate
    Budin-Ljøsne, Isabelle
    Cornel, Martina C
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Feeney, Oliver
    Jackson, Leigh
    Mascalzoni, Deborah
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Mendes, Álvaro
    Peterlin, Borut
    Riso, Brigida
    Shabani, Mahsa
    Skirton, Heather
    Sterckx, Sigrid
    Vears, Danya
    Wjst, Matthias
    Felzmann, Heike
    The challenges of the expanded availability of genomic information: an agenda-setting paper.2018In: Journal of Community Genetics, ISSN 1868-310X, E-ISSN 1868-6001, Vol. 9, no 2, p. 103-116Article in journal (Refereed)
    Abstract [en]

    Rapid advances in microarray and sequencing technologies are making genotyping and genome sequencing more affordable and readily available. There is an expectation that genomic sequencing technologies improve personalized diagnosis and personalized drug therapy. Concurrently, provision of direct-to-consumer genetic testing by commercial providers has enabled individuals' direct access to their genomic data. The expanded availability of genomic data is perceived as influencing the relationship between the various parties involved including healthcare professionals, researchers, patients, individuals, families, industry, and government. This results in a need to revisit their roles and responsibilities. In a 1-day agenda-setting meeting organized by the COST Action IS1303 "Citizen's Health through public-private Initiatives: Public health, Market and Ethical perspectives," participants discussed the main challenges associated with the expanded availability of genomic information, with a specific focus on public-private partnerships, and provided an outline from which to discuss in detail the identified challenges. This paper summarizes the points raised at this meeting in five main parts and highlights the key cross-cutting themes. In light of the increasing availability of genomic information, it is expected that this paper will provide timely direction for future research and policy making in this area.

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  • 3. Borry, Pascal
    et al.
    Cornel, Martina C
    Howard, Heidi C
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Where are you going, where have you been: a recent history of the direct-to-consumer genetic testing market.2010In: Journal of community genetics, ISSN 1868-310X, Vol. 1, no 3, p. 101-106Article in journal (Refereed)
    Abstract [en]

    In recent years, various private companies have been marketing and offering genetic tests directly to consumers. This article reviews the recent history of this commercial phenomenon. In particular, we discuss and describe the following subjects: (1) the factors that allowed for the creation of the direct-to-consumer (DTC) genetic testing (GT) market; (2) information regarding the size and potential success or failure of the DTC GT market; (3) recent changes in the DTC GT market; and (4) the recent events that may have an impact on the regulatory oversight of DTC genetic testing and the future evolution of this market. This review of factors suggests that despite the possibility of a change of business model as well as increased regulation, the commercialization of genetic testing is here to stay. As such it is important to pay close attention not only to the science underlying these tests but also to the ethical, legal, and social issues.

  • 4. Borry, Pascal
    et al.
    Henneman, Lidewij
    Lakeman, Phillis
    ten Kate, Leo P
    Cornel, Martina C
    Howard, Heidi C
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Preconceptional genetic carrier testing and the commercial offer directly-to-consumers.2011In: Human Reproduction, ISSN 0268-1161, E-ISSN 1460-2350, Vol. 26, no 5, p. 972-7Article in journal (Refereed)
    Abstract [en]

    Recently, a number of commercial companies are offering preconceptional carrier tests directly-to-consumers. This offer raises a number of concerns and issues above and beyond those encountered with preconceptional tests offered within the traditional health care setting. In order to bring some of these issues to light and to initiate dialogue on this topic, this article discusses the following issues: the current offer of preconceptional carrier tests (until the end of 2010) through online commercial companies; the implications for the informed consent procedure and the need for good information; the need for medical supervision and follow-up; and the appropriate use of existing resources. The article concludes with some reflections about the potential sustainability of the offer of preconceptional carrier tests directly-to-consumers.

  • 5. Borry, Pascal
    et al.
    Howard, Heidi C
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Sénécal, Karine
    Avard, Denise
    Health-related direct-to-consumer genetic testing: a review of companies' policies with regard to genetic testing in minors.2010In: Familial Cancer, ISSN 1389-9600, E-ISSN 1573-7292, Vol. 9, no 1, p. 51-9Article in journal (Refereed)
    Abstract [en]

    More and more companies are advertising and selling genetic tests directly to consumers. Considering the ethical, legal, and psychological concerns surrounding genetic testing in minors, a study of companies' websites was performed in order to describe and analyze their policies with respect to this issue. Of the 29 companies analyzed, 13 did not provide any information about this matter, eight companies allowed genetic testing upon parental request, four companies stated that their website is not directed to children under 18 years, and four companies suggested that in order to be tested, applicants should have reached the age of legal majority. If private companies offer genetic tests which are also offered in a clinical setting, can they be expected to adhere to the existing clinical guidelines with regard to these tests? If so, a certain ambiguity exists. Many companies are emphasizing in their disclaimers that their services are not medical services and should not be used as a basis for making medical decisions. Nonetheless, it remains debatable whether genetic testing in minors would be appropriate in this context. In line with the Advisory Committee on Genetic Testing, the Human Genetics Commission addressed the problem of non-consensual testing and recommended not to supply genetic testing services directly to those under the age of 16 or to those not able to make a competent decision regarding testing.

  • 6. Borry, Pascal
    et al.
    Rusu, Olivia
    Dondorp, Wybo
    De Wert, Guido
    Knoppers, Bartha Maria
    Howard, Heidi Carmen
    Anonymity 2.0: direct-to-consumer genetic testing and donor conception.2014In: Fertility and Sterility, ISSN 0015-0282, E-ISSN 1556-5653, Vol. 101, no 3, p. 630-2Article in journal (Refereed)
  • 7. Borry, Pascal
    et al.
    Rusu, Olivia
    Howard, Heidi C
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Genetic testing: anonymity of sperm donors under threat.2013In: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 496, no 7444, p. 169-Article in journal (Refereed)
  • 8. Borry, Pascal
    et al.
    van Hellemondt, Rachel E
    Sprumont, Dominique
    Jales, Camilla Fittipaldi Duarte
    Rial-Sebbag, Emmanuelle
    Spranger, Tade Matthias
    Curren, Liam
    Kaye, Jane
    Nys, Herman
    Howard, Heidi
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Legislation on direct-to-consumer genetic testing in seven European countries.2012In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 20, no 7, p. 715-21Article in journal (Refereed)
    Abstract [en]

    An increasing number of private companies are now offering direct-to-consumer (DTC) genetic testing services. Although a lot of attention has been devoted to the regulatory framework of DTC genetic testing services in the USA, only limited information about the regulatory framework in Europe is available. We will report on the situation with regard to the national legislation on DTC genetic testing in seven European countries (Belgium, the Netherlands, Switzerland, Portugal, France, Germany, the United Kingdom). The paper will address whether these countries have legislation that specifically address the issue of DTC genetic testing or have relevant laws that is pertinent to the regulatory control of these services in their countries. The findings show that France, Germany, Portugal and Switzerland have specific legislation that defines that genetic tests can only be carried out by a medical doctor after the provision of sufficient information concerning the nature, meaning and consequences of the genetic test and after the consent of the person concerned. In the Netherlands, some DTC genetic tests could fall under legislation that provides the Minister the right to refuse to provide a license to operate if a test is scientifically unsound, not in accordance with the professional medical practice standards or if the expected benefit is not in balance with the (potential) health risks. Belgium and the United Kingdom allow the provision of DTC genetic tests.

  • 9.
    Carrieri, Daniele
    et al.
    Univ Exeter, Egenis, England.
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Benjamin, Caroline
    Univ Cent Lancashire UCLan, Sch Community Hlth & Midwifery, Preston, Lancs, England;Liverpool Womens NHS Hosp Trust, Merseyside & Cheshire Clin Genet Serv, Liverpool, Merseyside, England.
    Clarke, Angus J.
    Cardiff Univ, Sch Med, Cardiff, S Glam, Wales.
    Dheensa, Sandi
    Univ Southampton, Fac Med, Clin Eth & Law, Southampton, Hants, England.
    Doheny, Shane
    Cardiff Univ, Sch Med, Cardiff, S Glam, Wales.
    Hawkins, Naomi
    Univ Exeter, Law Sch, Exeter, Devon, England.
    Halbersma-Konings, Tanya F.
    Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands.
    Jackson, Leigh
    Univ Exeter, Sch Med, Egenis, England.
    Kayserili, Hulya
    Koc Univ KUSoM, Sch Med, Med Genet Dept, Istanbul, Turkey.
    Kelly, Susan E.
    Univ Exeter, Egenis, England.
    Lucassen, Anneke M.
    Univ Southampton, Fac Med, Clin Eth & Law, Southampton, Hants, England;Univ Hosp Southampton NHS Fdn Trust, Wessex Clin Genet Serv, Southampton, Hants, England.
    Mendes, Alvaro
    Univ Porto, I3S, IBMC Inst Mol & Cell Biol, UnIGENe, Porto, Portugal;Univ Porto, I3S, IBMC Inst Mol & Cell Biol, CGPP Ctr Predict & Prevent Genet, Porto, Portugal.
    Rial-Sebbag, Emmanuelle
    Univ Paul Sabatier Toulouse III, INSERM, UMR 1027, Toulouse, France.
    Stefansdottir, Vigdis
    Natl Univ Hosp Iceland, Dept Genet & Mol Med, Landspitali, Reykjavik, Iceland.
    Turnpenny, Peter D.
    Royal Devon & Exeter NHS Fdn Trust, Clin Genet, Exeter, Devon, England.
    van El, Carla G.
    Vrije Univ, Amsterdam UMC, Sect Community Genet, Dept Clin Genet, Amsterdam, Netherlands;Vrije Univ, Amsterdam UMC, Amsterdam Publ Hlth Res Inst, Amsterdam, Netherlands.
    van Langen, Irene M.
    Univ Groningen, Univ Med Ctr Groningen, Dept Genet, Groningen, Netherlands.
    Cornel, Martina C.
    Vrije Univ, Amsterdam UMC, Sect Community Genet, Dept Clin Genet, Amsterdam, Netherlands;Vrije Univ, Amsterdam UMC, Amsterdam Publ Hlth Res Inst, Amsterdam, Netherlands.
    Forzano, Francesca
    Guys & St Thomas NHS Fdn Trust, Clin Genet Dept, London, ON, Canada.
    Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics2019In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 27, no 2, p. 169-182Article in journal (Refereed)
    Abstract [en]

    Technological advances have increased the availability of genomic data in research and the clinic. If, over time, interpretation of the significance of the data changes, or new information becomes available, the question arises as to whether recontacting the patient and/or family is indicated. The Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), together with research groups from the UK and the Netherlands, developed recommendations on recontacting which, after public consultation, have been endorsed by ESHG Board. In clinical genetics, recontacting for updating patients with new, clinically significant information related to their diagnosis or previous genetic testing may be justifiable and, where possible, desirable. Consensus about the type of information that should trigger recontacting converges around its clinical and personal utility. The organization of recontacting procedures and policies in current health care systems is challenging. It should be sustainable, commensurate with previously obtained consent, and a shared responsibility between healthcare providers, laboratories, patients, and other stakeholders. Optimal use of the limited clinical resources currently available is needed. Allocation of dedicated resources for recontacting should be considered. Finally, there is a need for more evidence, including economic and utility of information for people, to inform which strategies provide the most cost-effective use of healthcare resources for recontacting.

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    fulltext
  • 10.
    Carrieri, Daniele
    et al.
    Univ Exeter, Egenis, Exeter, Devon, England.
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics. Wellcome Genome Campus, Soc & Eth Res, Connecting Sci, Cambridge, England.
    Clarke, Angus J.
    Cardiff Univ, Sch Med, Cardiff, S Glam, Wales.
    Stefansdottir, Vigdis
    Landspitali Natl Univ Hosp Iceland, Dept Genet & Mol Med, Reykjavik, Iceland.
    Cornel, Martina C.
    Vrije Univ Amsterdam, Amsterdam Publ Hlth Res Inst, Sect Community Genet, Amsterdam UMC,Dept Clin Genet, Amsterdam, Netherlands.
    van El, Carla G.
    Vrije Univ Amsterdam, Amsterdam Publ Hlth Res Inst, Sect Community Genet, Amsterdam UMC,Dept Clin Genet, Amsterdam, Netherlands.
    Forzano, Francesca
    Guys & St Thomas NHS Fdn Trust, Clin Genet Dept, London, England.
    Reply to Bombard and Mighton2019In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 27, no 4, p. 507-508Article in journal (Other academic)
  • 11.
    Cornel, Martina C.
    et al.
    Vrije Univ Amsterdam, Amsterdam UMC, Clin Genet & Amsterdam Publ Hlth Res Inst, Sect Community Genet, Boelelaan 1117, Amsterdam, Netherlands.
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Lim, Daniel
    Kirkland & Ellis Int LLP, London, England.
    Bonham, Vence L.
    NHGRI, Social & Behav Res Branch, NIH, Bethesda, MD 20892 USA.
    Wartiovaara, Kirmo
    Univ Helsinki, Helsinki Univ Hosp, Clin Genet, Meilahdentie 2, Helsinki 00290, Finland.
    Moving towards a cure in genetics: what is needed to bring somatic gene therapy to the clinic?2019In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 27, no 3, p. 484-487Article in journal (Refereed)
    Abstract [en]

    Clinical trials using somatic gene editing (e.g., CRISPR-Cas9) have started in Europe and the United States and may provide safe and effective treatment and cure, not only for cancers but also for some monogenic conditions. In a workshop at the 2018 European Human Genetics Conference, the challenges of bringing somatic gene editing therapies to the clinic were discussed. The regulatory process needs to be considered early in the clinical development pathway to produce the data necessary to support the approval by the European Medicines Agency. The roles and responsibilities for geneticists may include counselling to explain the treatment possibilities and safety interpretation.

  • 12. De Wert, G.
    et al.
    Heindryckx, B.
    Pennings, G.
    Clarke, A.
    Eichenlaub-Ritter, U.
    van El, Carla G.
    Forzano, F.
    Goddijn, M.
    Howard, Heidi C.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Radojkovic, D.
    Rial-Sebbag, E.
    Dondorp, W.
    Tarlatzis, B. C.
    Cornel, M. C.
    Responsible innovation in human germline gene editing: Background document to the recommendations of ESHG and ESHRE2018In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 26, no 4, p. 450-470Article in journal (Refereed)
    Abstract [en]

    Technological developments in gene editing raise high expectations for clinical applications, including editing of the germline. The European Society of Human Reproduction and Embryology (ESHRE) and the European Society of Human Genetics (ESHG) together developed a Background document and Recommendations to inform and stimulate ongoing societal debates. This document provides the background to the Recommendations. Germline gene editing is currently not allowed in many countries. This makes clinical applications in these countries impossible now, even if germline gene editing would become safe and effective. What were the arguments behind this legislation, and are they still convincing? If a technique could help to avoid serious genetic disorders, in a safe and effective way, would this be a reason to reconsider earlier standpoints? This Background document summarizes the scientific developments and expectations regarding germline gene editing, legal regulations at the European level, and ethics for three different settings (basic research, preclinical research and clinical applications). In ethical terms, we argue that the deontological objections (e.g., gene editing goes against nature) do not seem convincing while consequentialist objections (e.g., safety for the children thus conceived and following generations) require research, not all of which is allowed in the current legal situation in European countries. Development of this Background document and Recommendations reflects the responsibility to help society understand and debate the full range of possible implications of the new technologies, and to contribute to regulations that are adapted to the dynamics of the field while taking account of ethical considerations and societal concerns.

  • 13.
    de Wert, Guido
    et al.
    Maastricht Univ, Dept Hlth Eth & Soc, Res Inst GROW & CAPHRI, Fac Hlth Med & Life Sci, POB 616, NL-6200 MD Maastricht, Netherlands..
    Heindryckx, Bjoern
    Ghent Univ Hosp, Dept Reprod Med, Ghent Fertil & Stem Cell Team G FaST, C Heymanslaan 10, B-9000 Ghent, Belgium..
    Pennings, Guido
    Univ Ghent, Bioeth Inst Ghent, Dept Philosophy & Moral Sci, Blandijnberg 2, B-9000 Ghent, Belgium..
    Clarke, Angus
    Univ Hosp Wales, Inst Med Genet, Heath Pk, Cardiff CF14 4XN, Wales..
    Eichenlaub-Ritter, Ursula
    Univ Bielefeld, Inst Gene Technol Microbiol, Fac Biol, Postfach 10 01 31, D-33501 Bielefeld, Germany..
    van El, Carla G.
    Vrije Univ Amsterdam Med Ctr, Sect Community Genet, Dept Clin Genet, Van der Boechorststr 7, NL-1081 BT Amsterdam, Netherlands.;Vrije Univ Amsterdam Med Ctr, Amsterdam Publ Hlth Res Inst, Van der Boechorststr 7, NL-1081 BT Amsterdam, Netherlands..
    Forzano, Francesca
    Guys & St Thomas NHS Fdn Trust, Clin Genet Dept, Guys Hosp, 7th Floor Borough Wing, London SE1 9RT, England..
    Goddijn, Mariette
    Acad Med Ctr, Dept Obstet & Gynecol, Ctr Reprod Med, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands..
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Radojkovic, Dragica
    Univ Belgrade, Inst Mol Genet & Genet Engn, Lab Mol Biol, POB 23, Belgrade 11010, Serbia..
    Rial-Sebbag, Emmanuelle
    Univ Toulouse Univ Paul Sabatier Toulouse III, INSERM, UMR 1027, Allees Jules Guesdes 37, F-31073 Toulouse, France..
    Dondorp, Wybo
    Maastricht Univ, Dept Hlth Eth & Soc, Res Inst GROW & CAPHRI, Fac Hlth Med & Life Sci, POB 616, NL-6200 MD Maastricht, Netherlands..
    Tarlatzis, Basil C.
    Aristotle Univ Thessaloniki, Dept Obstet & Gynecol 1, Sch Med, 9 Agias Sofias Str, Thessaloniki 54623, Greece..
    Cornel, Martina C.
    Vrije Univ Amsterdam Med Ctr, Sect Community Genet, Dept Clin Genet, Van der Boechorststr 7, NL-1081 BT Amsterdam, Netherlands.;Vrije Univ Amsterdam Med Ctr, Amsterdam Publ Hlth Res Inst, Van der Boechorststr 7, NL-1081 BT Amsterdam, Netherlands..
    Responsible innovation in human germline gene editing. Background document to the recommendations of ESHG and ESHRE2018In: HUMAN REPRODUCTION OPEN, ISSN 2399-3529, Vol. 2018, no 1, article id hox024Article in journal (Refereed)
    Abstract [en]

    Technological developments in gene editing raise high expectations for clinical applications, including editing of the germline. The European Society of Human Reproduction and Embryology (ESHRE) and the European Society of Human Genetics (ESHG) together developed a Background document and Recommendations to inform and stimulate ongoing societal debates. This document provides the background to the Recommendations. Germline gene editing is currently not allowed in many countries. This makes clinical applications in these countries impossible now, even if germline gene editing would become safe and effective. What were the arguments behind this legislation, and are they still convincing? If a technique could help to avoid serious genetic disorders, in a safe and effective way, would this be a reason to reconsider earlier standpoints? This Background document summarizes the scientific developments and expectations regarding germline gene editing, legal regulations at the European level, and ethics for three different settings (basic research, pre-clinical research and clinical applications). In ethical terms, we argue that the deontological objections (e.g. gene editing goes against nature) do not seem convincing while consequentialist objections (e.g. safety for the children thus conceived and following generations) require research, not all of which is allowed in the current legal situation in European countries. Development of this Background document and Recommendations reflects the responsibility to help society understand and debate the full range of possible implications of the new technologies, and to contribute to regulations that are adapted to the dynamics of the field while taking account of ethical considerations and societal concerns.

    Download full text (pdf)
    fulltext
  • 14.
    de Wert, Guido
    et al.
    Maastricht Univ, Fac Hlth Med & Life Sci, Res Inst GROW, Dept Hlth Eth & Soc, POB 616, NL-6200 MD Maastricht, Netherlands.;Maastricht Univ, Fac Hlth Med & Life Sci, Res Inst CAPHRI, Dept Hlth Eth & Soc, POB 616, NL-6200 MD Maastricht, Netherlands..
    Pennings, Guido
    Univ Ghent, Bioeth Inst Ghent, Dept Philosophy & Moral Sci, Blandijnberg 2, B-9000 Ghent, Belgium..
    Clarke, Angus
    Univ Hosp Wales, Inst Med Genet, Heath Pk, Cardiff CF14 4XN, Wales..
    Eichenlaub-Ritter, Ursula
    Univ Bielefeld, Inst Gene Technol Microbiol, Fac Biol, Postfach 10 01 31, D-33501 Bielefeld, Germany..
    van El, Carla G.
    Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Sect Community Genet, Van Boechorststr 7, NL-1081 BT Amsterdam, Netherlands.;Vrije Univ Amsterdam, Med Ctr, Amsterdam Publ Hlth Res Inst, Van Boechorststr 7, NL-1081 BT Amsterdam, Netherlands..
    Forzano, Francesca
    Guys & St Thomas NHS Fdn Trust, Guys Hosp, Clin Genet Dept, 7th Floor,Borough Wing, London SE1 9RT, England..
    Goddijn, Mariette
    Acad Med Ctr, Ctr Reprod Med, Dept Obstet & Gynecol, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands..
    Heindryckx, Bjoern
    Ghent Univ Hosp, Ghent Fertil & Stem Cell Team G FaST, Dept Reprod Med, C Heymanslaan 10, B-9000 Ghent, Belgium..
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Radojkovic, Dragica
    Univ Belgrade, Inst Mol Genet & Genet Engn, Lab Mol Biol, POB 23, Belgrade 11010, Serbia..
    Rial-Sebbag, Emmanuelle
    Univ Paul Sabatier Toulouse III, Univ Toulouse, INSERM, UMR 1027,Emmanuelle Rial Sebbag, Allees Jules Guesdes 37, F-31073 Toulouse, France..
    Tarlatzis, Basil C.
    Aristotle Univ Thessaloniki, Sch Med, Dept Obstet & Gynecol 1, 9 Agias Sofias Str, Thessaloniki 54623, Greece..
    Cornel, Martina C.
    Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Sect Community Genet, Van Boechorststr 7, NL-1081 BT Amsterdam, Netherlands.;Vrije Univ Amsterdam, Med Ctr, Amsterdam Publ Hlth Res Inst, Van Boechorststr 7, NL-1081 BT Amsterdam, Netherlands..
    Human germline gene editing. Recommendations of ESHG and ESHRE2018In: HUMAN REPRODUCTION OPEN, ISSN 2399-3529, Vol. 2018, no 1, article id hox025Article in journal (Refereed)
    Abstract [en]

    Technological developments in gene editing raise high expectations for clinical applications, first of all for somatic gene editing but in theory also for germline gene editing (GLGE). GLGE is currently not allowed in many countries. This makes clinical applications in these countries impossible now, even if GLGE would become safe and effective. What were the arguments behind this legislation, and are they still convincing? If a technique can help to avoid serious genetic disorders, in a safe and effective way, would this be a reason to reconsider earlier standpoints? The European Society of Human Reproduction and Embryology (ESHRE) and the European Society of Human Genetics (ESHG) together developed a Background document and Recommendations to inform and stimulate ongoing societal debates. After consulting its membership and experts, this final version of the Recommendations was endorsed by the Executive Committee and the Board of the respective Societies in May 2017. Taking account of ethical arguments, we argue that both basic and pre-clinical research regarding human GLGE can be justified, with conditions. Furthermore, while clinical GLGE would be totally premature, it might become a responsible intervention in the future, but only after adequate pre-clinical research. Safety of the child and future generations is a major concern. Future discussions must also address priorities among reproductive and potential non-reproductive alternatives, such as PGD and somatic editing, if that would be safe and successful. The prohibition of human germline modification, however, needs renewed discussion among relevant stakeholders, including the general public and legislators.

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  • 15.
    de Wert, Guido
    et al.
    Department of Health, Ethics and Society, Research Institutes GROW and CAPHRI, Fac. of Health, Medicine and the Life Sciences, Maastricht University, Maastricht, The Netherlands.
    Pennings, Guido
    Bioethics Institute Ghent, Department of Philosophy and Moral Science, Ghent University, Ghent, Belgium.
    Clarke, Angus
    School of Medicine, Cardiff University, Cardiff, UK.
    Eichenlaub-Ritter, Ursula
    Institute of Gene Technology/Microbiology, Faculty of Biology, University of Bielefeld, Bielefeld, Germany.
    van El, Carla G.
    Department of Clinical Genetics, Section Community Genetics, and Amsterdam Public Health research institute, VU University Medical Center, Amsterdam, The Netherlands.
    Forzano, Francesca
    Clinical Genetics Department, Guy’s Hospital, Guy’s and St Thomas’ NHS Foundation Trust, London, UK.
    Goddijn, Mariëtte
    Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, Amsterdam-Zuidoost, The Netherlands.
    Heindryckx, Björn
    Ghent-Fertility and Stem cell Team (G-FaST), Department for Reproductive Medicine, Ghent University Hospital, Ghent, Belgium.
    Howard, Heidi C.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Radojkovic, Dragica
    Laboratory for Molecular Biology, Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Serbia.
    Rial-Sebbag, Emmanuelle
    University Paul Sabatier Toulouse, Toulouse, France.
    Tarlatzis, Basil C.
    1st Department of Obstetrics & Gynecology, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
    Cornel, Martina C.
    Department of Clinical Genetics, Section Community Genetics, and Amsterdam Public Health research institute, VU University Medical Center, Amsterdam, The Netherlands.
    Human germline gene editing: Recommendations of ESHG and ESHRE2018In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 26, no 4, p. 445-449Article in journal (Refereed)
    Abstract [en]

    Technological developments in gene editing raise high expectations for clinical applications, first of all for somatic gene editing but in theory also for germline gene editing (GLGE). GLGE is currently not allowed in many countries. This makes clinical applications in these countries impossible now, even if GLGE would become safe and effective. What were the arguments behind this legislation, and are they still convincing? If a technique can help to avoid serious genetic disorders, in a safe and effective way, would this be a reason to reconsider earlier standpoints? The European Society of Human Reproduction and Embryology (ESHRE) and the European Society of Human Genetics (ESHG) together developed a Background document and Recommendations to inform and stimulate ongoing societal debates. After consulting its membership and experts, this final version of the Recommendations was endorsed by the Executive Committee and the Board of the respective Societies in May 2017. Taking account of ethical arguments, we argue that both basic and pre-clinical research regarding GLGE can be justified, with conditions. Furthermore, while clinical GLGE would be totally premature, it might become a responsible intervention in the future, but only after adequate pre-clinical research. Safety of the child and future generations is a major concern. Future discussions must also address priorities among reproductive and potential non-reproductive alternatives, such as PGD and somatic editing, if that would be safe and successful. The prohibition of human germline modification, however, needs renewed discussion among relevant stakeholders, including the general public and legislators.

  • 16.
    Dondorp, Wybo
    et al.
    Maastricht Univ, Res Sch CAPHRI, Dept Hlth Eth & Soc, NL-6200 MD Maastricht, Netherlands.;Maastricht Univ, Res Sch GROW, Dept Hlth Eth & Soc, NL-6200 MD Maastricht, Netherlands..
    de Wert, Guido
    Maastricht Univ, Res Sch CAPHRI, Dept Hlth Eth & Soc, NL-6200 MD Maastricht, Netherlands.;Maastricht Univ, Res Sch GROW, Dept Hlth Eth & Soc, NL-6200 MD Maastricht, Netherlands..
    Bombard, Yvonne
    Univ Toronto, Fac Med, Li Ka Shing Knowledge Inst, St Michaels Hosp, Toronto, ON, Canada.;Univ Toronto, Fac Med, Inst Hlth Policy Management & Evaluat, Toronto, ON, Canada..
    Bianchi, Diana W.
    Tufts Univ, Sch Med, Dept Pediat Obstet & Gynecol, Boston, MA 02111 USA..
    Bergmann, Carsten
    Ctr Human Genet Biosci, Ingelheim, Germany.;Univ Freiburg, Med Ctr, Dept Med, D-79106 Freiburg, Germany..
    Borry, Pascal
    Leuven Univ, Ctr Biomed Eth & Law, Dept Publ Hlth & Primary Care, Louvain, Belgium..
    Chitty, Lyn S.
    Great Ormond St Hosp & UCLH NHS Fdn Trusts, UCL Inst Child Hlth, Clin & Mol Genet Unit, London, England..
    Fellmann, Florence
    Univ Lausanne Hosp, Serv Med Genet, Lausanne, Switzerland..
    Forzano, Francesca
    Osped Galliera, Med Genet Unit, Genoa, Italy..
    Hall, Alison
    PHG Fdn, Cambridge, England..
    Henneman, Lidewij
    Vrije Univ Amsterdam Med Ctr, Sect Community Genet, Dept Clin Genet, Amsterdam, Netherlands.;Vrije Univ Amsterdam Med Ctr, EMGO Inst Hlth & Care Res, Amsterdam, Netherlands..
    Howard, Heidi C.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Lucassen, Anneke
    Univ Southampton, Dept Clin Eth & Law CELS, Southampton, Hants, England.;Wessex Clin Genet Serv, Southampton, Hants, England..
    Ormond, Kelly
    Stanford Univ, Sch Med, Dept Genet, Stanford, CA USA.;Stanford Univ, Sch Med, Stanford Ctr Biomed Eth, Stanford, CA USA..
    Peterlin, Borut
    Univ Ljubljana, Med Ctr, Clin Inst Med Genet, Ljubljana 61000, Slovenia..
    Radojkovic, Dragica
    Univ Belgrade, IMGGE, Lab Mol Biol, Belgrade, Serbia..
    Rogowski, Wolf
    Helmholtz Zentrum, Deutsch Forschungszentrum Gesundheit & Umwelt, Munich, Germany..
    Soller, Maria
    Lund Univ, Div Clin Genet, Lund, Sweden.;Univ Lund Hosp, Reg Labs Reg Skane, S-22185 Lund, Sweden..
    Tibben, Aad
    Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands..
    Tranebjaerg, Lisbeth
    Bispebjerg Hosp, Rigshosp, Dept Audiol, Copenhagen, Denmark.;Univ Copenhagen, Kennedy Ctr, Dept Clin Genet, Copenhagen, Denmark.;Univ Copenhagen, ICMM, Inst Cellular & Mol Med, Copenhagen, Denmark..
    van El, Carla G.
    Vrije Univ Amsterdam Med Ctr, Sect Community Genet, Dept Clin Genet, Amsterdam, Netherlands.;Vrije Univ Amsterdam Med Ctr, EMGO Inst Hlth & Care Res, Amsterdam, Netherlands..
    Cornel, Martina C.
    Vrije Univ Amsterdam Med Ctr, Sect Community Genet, Dept Clin Genet, Amsterdam, Netherlands.;Vrije Univ Amsterdam Med Ctr, EMGO Inst Hlth & Care Res, Amsterdam, Netherlands..
    Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening2015In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 23, no 11, p. 1438-1450Article in journal (Refereed)
    Abstract [en]

    This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achieve its aim of facilitating autonomous reproductive choices, provided that balanced pretest information and non-directive counseling are available as part of the screening offer. Depending on the health-care setting, different scenarios for NIPT-based screening for common autosomal aneuploidies are possible. The trade-offs involved in these scenarios should be assessed in light of the aim of screening, the balance of benefits and burdens for pregnant women and their partners and considerations of cost-effectiveness and justice. With improving screening technologies and decreasing costs of sequencing and analysis, it will become possible in the near future to significantly expand the scope of prenatal screening beyond common autosomal aneuploidies. Commercial providers have already begun expanding their tests to include sex-chromosomal abnormalities and microdeletions. However, multiple false positives may undermine the main achievement of NIPT in the context of prenatal screening: the significant reduction of the invasive testing rate. This document argues for a cautious expansion of the scope of prenatal screening to serious congenital and childhood disorders, only following sound validation studies and a comprehensive evaluation of all relevant aspects. A further core message of this document is that in countries where prenatal screening is offered as a public health programme, governments and public health authorities should adopt an active role to ensure the responsible innovation of prenatal screening on the basis of ethical principles. Crucial elements are the quality of the screening process as a whole (including non-laboratory aspects such as information and counseling), education of professionals, systematic evaluation of all aspects of prenatal screening, development of better evaluation tools in the light of the aim of the practice, accountability to all stakeholders including children born from screened pregnancies and persons living with the conditions targeted in prenatal screening and promotion of equity of access.

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  • 17.
    Fellmann, Florence
    et al.
    Univ Lausanne, ColLab, Lausanne, Switzerland.
    van El, Carla G.
    Vrije Univ Amsterdam, Amsterdam UMC, Dept Clin Genet, Sect Community Genet, Amsterdam, Netherlands;Vrije Univ Amsterdam, Amsterdam UMC, Amsterdam Publ Hlth Res Inst, Amsterdam, Netherlands.
    Charron, Philippe
    Sorbonne Univ, Hop Pitie Salpetriere, AP HP, Referral Ctr Inherited Cardiac Dis,ICAN,INSERM,UM, Paris, France;European Reference Network Rare & Low Prevalence, Amsterdam, Netherlands.
    Michaud, Katarzyna
    Lausanne Univ Hosp, Univ Ctr Legal Med Lausanne Geneva, Lausanne, Switzerland;Univ Lausanne, Lausanne, Switzerland.
    Howard, Heidi C.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Boers, Sarah N.
    Univ Med Ctr Utrecht, Dept Med Humanities, Julius Ctr Hlth Sci & Primary Care, Utrecht, Netherlands.
    Clarke, Angus J.
    Cardiff Univ, Inst Med Genet, Sch Med, Div Canc & Genet, Cardiff, S Glam, Wales.
    Duguet, Anne-Marie
    Univ Paul Sabatier Toulouse III, INSERM, UMR 1027, Toulouse, France.
    Forzano, Francesca
    Guys & St Thomas NHS Fdn Trust, Dept Clin Genet, London, England.
    Kauferstein, Silke
    Goethe Univ Frankfurt, Inst Legal Med, Frankfurt, Germany.
    Kayserili, Hulya
    Koc Univ, Sch Med KUSoM, Dept Med Genet, Istanbul, Turkey.
    Lucassen, Anneke
    Univ Southampton, Fac Med, Clin Eth & Law, Southampton, Hants, England;Univ Hosp Southampton NHS Fdn Trust, Clin Genet Serv, Southampton, Hants, England.
    Mendes, Alvaro
    Univ Porto, I3S, IBMC Inst Mol & Cell Biol, UnIGENe, Porto, Portugal;Univ Porto, I3S, IBMC Inst Mol & Cell Biol, CGPP Ctr Predict & Prevent Genet, Porto, Portugal.
    Patch, Christine
    Kings Coll London, Florence Nightingale Fac, Nursing & Midwifery Palliat Care, London, England;Queen Mary Univ London, Genom England, London, England.
    Radojkovic, Dragica
    Univ Belgrade, IMGGE, Belgrade, Serbia.
    Rial-Sebbag, Emmanuelle
    Univ Paul Sabatier Toulouse III, INSERM, UMR 1027, Toulouse, France.
    Sheppard, Mary N.
    European Reference Network Rare & Low Prevalence, Amsterdam, Netherlands;St Georges Med Sch, Cardiovasc Pathol Mol & Clin Sci Res Inst, London, England.
    Tasse, Anne-Marie
    McGill Univ, Publ Populat Project Genom & Soc P3G, Montreal, PQ, Canada;Genome Quebec Innovat Ctr, Montreal, PQ, Canada.
    Temel, Sehime G.
    Bursa Uludag Univ, Dept Med Genet, Fac Med, Bursa, Turkey;Bursa Uludag Univ, Dept Histol & Embryol, Fac Med, Bursa, Turkey.
    Sajantila, Antti
    Univ Helsinki, Dept Forens Med, Helsinki, Finland.
    Basso, Cristina
    European Reference Network Rare & Low Prevalence, Amsterdam, Netherlands;Univ Padua, Dept Cardiac Thorac & Vasc Sci, Cardiovasc Pathol Unit, Padua, Italy.
    Wilde, Arthur A. M.
    European Reference Network Rare & Low Prevalence, Amsterdam, Netherlands;Univ Amsterdam, Amsterdam UMC, Heart Ctr, Amsterdam, Netherlands;Univ Amsterdam, Dept Clin & Expt Cardiol, Amsterdam Cardiovasc Sci, Amsterdam, Netherlands.
    Cornel, Martina C.
    Vrije Univ Amsterdam, Amsterdam UMC, Dept Clin Genet, Sect Community Genet, Amsterdam, Netherlands;Vrije Univ Amsterdam, Amsterdam UMC, Amsterdam Publ Hlth Res Inst, Amsterdam, Netherlands.
    Benjamin, Caroline
    Borry, Pascal
    Clarke, Angus
    Cordier, Christophe
    Cornel, Martina
    van El, Carla
    Howard, Heidi
    Melegh, Bela
    Perola, Markus
    Peterlin, Borut
    Rogowski, Wolf
    Soller, Maria
    Stefansdottir, Vigdis
    de Wert, Guido
    European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death2019In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 27, no 12, p. 1763-1773Article in journal (Refereed)
    Abstract [en]

    Sudden cardiac death (SCD) accounts for 10-20% of total mortality, i.e., one in five individuals will eventually die suddenly. Given the substantial genetic component of SCD in younger cases, postmortem genetic testing may be particularly useful in elucidating etiological factors in the cause of death in this subset. The identification of genes responsible for inherited cardiac diseases have led to the organization of cardiogenetic consultations in many countries worldwide. Expert recommendations are available, emphasizing the importance of genetic testing and appropriate information provision of affected individuals, as well as their relatives. However, the context of postmortem genetic testing raises some particular ethical, legal, and practical (including economic or financial) challenges. The Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), together with international experts, developed recommendations on management of SCD after a workshop sponsored by the Brocher Foundation and ESHG in November 2016. These recommendations have been endorsed by the ESHG Board, the European Council of Legal Medicine, the European Society of Cardiology working group on myocardial and pericardial diseases, the ERN GUARD-HEART, and the Association for European Cardiovascular Pathology. They emphasize the importance of increasing the proportion of both medical and medicolegal autopsies and educating the professionals. Multidisciplinary collaboration is of utmost importance. Public funding should be allocated to reach these goals and allow public health evaluation.

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  • 18.
    Hansson, Mats G.
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics. ..
    Bouder, Frederic
    Dept Technol & Soc Studies, Maastricht.
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Genetics and risk - an exploration of conceptual approaches to genetic risk2018In: Journal of Risk Research, ISSN 1366-9877, E-ISSN 1466-4461, Vol. 21, no 2, p. 101-108Article in journal (Other academic)
  • 19.
    Henneman, Lidewij
    et al.
    Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Sect Community Genet, Amsterdam, Netherlands.;Vrije Univ Amsterdam, Med Ctr, EMGO Inst Hlth & Care Res, Amsterdam, Netherlands..
    Borry, Pascal
    Univ Leuven, Ctr Biomed Eth & Law, Leuven, Belgium..
    Chokoshvili, Davit
    Univ Leuven, Ctr Biomed Eth & Law, Leuven, Belgium.;Univ Hosp Ghent, Ctr Med Genet Ghent, Ghent, Belgium..
    Cornel, Martina C.
    Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Sect Community Genet, Amsterdam, Netherlands.;Vrije Univ Amsterdam, Med Ctr, EMGO Inst Hlth & Care Res, Amsterdam, Netherlands..
    van El, Carla G.
    Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Sect Community Genet, Amsterdam, Netherlands.;Vrije Univ Amsterdam, Med Ctr, EMGO Inst Hlth & Care Res, Amsterdam, Netherlands..
    Forzano, Francesca
    Osped Galliera, Med Genet Unit, Genoa, Italy..
    Hall, Alison
    PHG Fdn, Cambridge, England..
    Howard, Heidi C.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Janssens, Sandra
    Univ Hosp Ghent, Ctr Med Genet Ghent, Ghent, Belgium..
    Kayserili, Hulya
    Koc Univ, Sch Med, Dept Med Genet, Istanbul, Turkey..
    Lakeman, Phillis
    Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, Meibergdreef 9, NL-1105 AZ Amsterdam, Netherlands..
    Lucassen, Anneke
    Univ Southampton, Dept Clin Eth & Law CELS, Southampton, Hants, England.;Wessex Clin Genet Serv, Southampton, Hants, England..
    Metcalfe, Sylvia A.
    Univ Melbourne, Murdoch Childrens Res Inst, Parkville, Vic 3052, Australia.;Univ Melbourne, Dept Paediat, Parkville, Vic 3052, Australia..
    Vidmar, Lovro
    Univ Ljubljana, Med Ctr, Clin Inst Med Genet, Ljubljana 1000, Slovenia..
    de Wert, Guido
    Maastricht Univ, Res Sch CAPHRI, Dept Hlth Eth & Soc, NL-6200 MD Maastricht, Netherlands.;Maastricht Univ, Res Sch GROW, NL-6200 MD Maastricht, Netherlands..
    Dondorp, Wybo J.
    Maastricht Univ, Res Sch CAPHRI, Dept Hlth Eth & Soc, NL-6200 MD Maastricht, Netherlands.;Maastricht Univ, Res Sch GROW, NL-6200 MD Maastricht, Netherlands..
    Peterlin, Borut
    Univ Ljubljana, Med Ctr, Clin Inst Med Genet, Ljubljana 1000, Slovenia..
    Responsible implementation of expanded carrier screening2016In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 24, no 6, p. E1-E12Article in journal (Refereed)
    Abstract [en]

    This document of the European Society of Human Genetics contains recommendations regarding responsible implementation of expanded carrier screening. Carrier screening is defined here as the detection of carrier status of recessive diseases in couples or persons who do not have an a priori increased risk of being a carrier based on their or their partners' personal or family history. Expanded carrier screening offers carrier screening for multiple autosomal and X-linked recessive disorders, facilitated by new genetic testing technologies, and allows testing of individuals regardless of ancestry or geographic origin. Carrier screening aims to identify couples who have an increased risk of having an affected child in order to facilitate informed reproductive decision making. In previous decades, carrier screening was typically performed for one or few relatively common recessive disorders associated with significant morbidity, reduced life-expectancy and often because of a considerable higher carrier frequency in a specific population for certain diseases. New genetic testing technologies enable the expansion of screening to multiple conditions, genes or sequence variants. Expanded carrier screening panels that have been introduced to date have been advertised and offered to health care professionals and the public on a commercial basis. This document discusses the challenges that expanded carrier screening might pose in the context of the lessons learnt from decades of population-based carrier screening and in the context of existing screening criteria. It aims to contribute to the public and professional discussion and to arrive at better clinical and laboratory practice guidelines.

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  • 20.
    Howard, Heidi C
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Knoppers, Bartha Maria
    Borry, Pascal
    Blurring lines. The research activities of direct-to-consumer genetic testing companies raise questions about consumers as research subjects.2010In: EMBO Reports, ISSN 1469-221X, E-ISSN 1469-3178, Vol. 11, no 8, p. 579-82Article in journal (Refereed)
  • 21.
    Howard, Heidi Carmen
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Iwarsson, Erik
    Karolinska Inst, Karolinska Univ Hosp, Dept Mol Med & Surg, CMM L8 02, Stockholm, Sweden.;Karolinska Inst, Karolinska Univ Hosp, Ctr Mol Med, CMM L8 02, Stockholm, Sweden..
    Mapping uncertainty in genomics2018In: Journal of Risk Research, ISSN 1366-9877, E-ISSN 1466-4461, Vol. 21, no 2, p. 117-128Article in journal (Refereed)
    Abstract [en]

    The relatively novel and dynamic science of genomics holds many unknowns for stakeholders, and in particular for researchers and clinicians, as well as for participants and patients. At a time when many authors predict a future in which genomic medicine will be the norm, it is particularly relevant to discuss the unknowns surrounding genetics and genomics, including the notions of risk and uncertainty. This article will present a discussion regarding the uncertainty pertaining specifically to high throughput sequencing approaches, including the topic of incidental findings. This discussion will be guided by a taxonomy of uncertainty conceptualised around three areas of uncertainty: the source of uncertainty, the issues of uncertainty and the loci of uncertainty. This taxonomy can be used as a tool by all stakeholders involved in genomics to help further understand and anticipate uncertainties in genomics. Furthermore, to better contextualize this information, and also because this contribution is born out of an international project titled Mind the Risk', which addresses risk information in genetics and genomics from many different disciplinary perspectives, another aim of this article is to briefly present the basic issues pertaining to the unknowns, risks, and uncertainties of genetics as well as genomics for an audience of non-geneticists. Ultimately, the mapping out of uncertainty in genomics should allow for a better characterization of the uncertainty and consequently for a better management and communication of these uncertainties to end-users (research participants and patients).

  • 22.
    Howard, Heidi Carmen
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Knoppers, Bartha Maria
    Cornel, Martina C
    Wright Clayton, Ellen
    Sénécal, Karine
    Borry, Pascal
    Whole-genome sequencing in newborn screening?: A statement on the continued importance of targeted approaches in newborn screening programmes2015In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 23, no 12, p. 1593-1600Article in journal (Refereed)
    Abstract [en]

    The advent and refinement of sequencing technologies has resulted in a decrease in both the cost and time needed to generate data on the entire sequence of the human genome. This has increased the accessibility of using whole-genome sequencing and whole-exome sequencing approaches for analysis in both the research and clinical contexts. The expectation is that more services based on these and other high-throughput technologies will become available to patients and the wider population. Some authors predict that sequencing will be performed once in a lifetime, namely, shortly after birth. The Public and Professional Policy Committee of the European Society of Human Genetics, the Human Genome Organisation Committee on Ethics, Law and Society, the PHG Foundation and the P3G International Paediatric Platform address herein the important issues and challenges surrounding the potential use of sequencing technologies in publicly funded newborn screening (NBS) programmes. This statement presents the relevant issues and culminates in a set of recommendations to help inform and guide scientists and clinicians, as well as policy makers regarding the necessary considerations for the use of genome sequencing technologies and approaches in NBS programmes. The primary objective of NBS should be the targeted analysis and identification of gene variants conferring a high risk of preventable or treatable conditions, for which treatment has to start in the newborn period or in early childhood.

  • 23.
    Howard, Heidi Carmen
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Mascalzoni, Deborah
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Mabile, Laurence
    Houeland, Gry
    Rial-Sebbag, Emmanuelle
    Cambon-Thomsen, Anne
    How to responsibly acknowledge research work in the era of big data and biobanks: ethical aspects of the Bioresource Research Impact Factor (BRIF).2018In: Journal of Community Genetics, ISSN 1868-310X, E-ISSN 1868-6001, Vol. 9, no 2, p. 169-176Article in journal (Refereed)
    Abstract [en]

    Currently, a great deal of biomedical research in fields such as epidemiology, clinical trials and genetics is reliant on vast amounts of biological and phenotypic information collected and assembled in biobanks. While many resources are being invested to ensure that comprehensive and well-organised biobanks are able to provide increased access to, and sharing of biomedical samples and information, many barriers and challenges remain to such responsible and extensive sharing. Germane to the discussion herein is the barrier to collecting and sharing bioresources related to the lack of proper recognition of researchers and clinicians who developed the bioresource. Indeed, the efforts and resources invested to set up and sustain a bioresource can be enormous and such work should be easily traced and properly recognised. However, there is currently no such system that systematically and accurately traces and attributes recognition to those doing this work or the bioresource institution itself. As a beginning of a solution to the "recognition problem", the Bioresource Research Impact Factor/Framework (BRIF) initiative was proposed almost a decade and a half ago and is currently under further development. With the ultimate aim of increasing awareness and understanding of the BRIF, in this article, we contribute the following: (1) a review of the objectives and functions of the BRIF including the description of two tools that will help in the deployment of the BRIF, the CoBRA (Citation of BioResources in journal Articles) guideline, and the Open Journal of Bioresources (OJB); (2) the results of a small empirical study on stakeholder awareness of the BRIF and (3) a brief analysis of the ethical dimensions of the BRIF which allow it to be a positive contribution to responsible biobanking.

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  • 24.
    Howard, Heidi Carmen
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    van El, Carla G.
    Vrije Univ Amsterdam Med Ctr, Dept Clin Genet, Sect Community Genet, Amsterdam.; Vrije Univ Amsterdam Med Ctr, EMGO Inst Hlth & Care Res, Amsterdam.
    Forzano, Francesca
    Great Ormond St Hosp Sick Children, Dept Clin Genet, London.
    Radojkovic, D.
    Univ Belgrade, Inst Mol Genet & Genet Engn, Lab Mol Genet, Belgrade.
    Rial-Sebbag, E.
    Univ Toulouse 3 Paul Sabatier, UMR 1027, INSERM, Fac Med, Toulouse.
    de Wert, G.
    Maastricht Univ, Dept Hlth Eth & Soc, Res Sch CAPHRI, Maastricht.; Maastricht Univ, Res Sch GROW, Maastricht.
    Borry, P.
    Katholieke Univ Leuven, Leuven Inst Genom & Soc, Dept Publ Hlth & Primary Care, Ctr Biomed Eth & Law, Leuven.
    Cornel, M. C.
    Vrije Univ Amsterdam Med Ctr, Dept Clin Genet, Sect Community Genet, Amsterdam.; Vrije Univ Amsterdam Med Ctr, EMGO Inst Hlth & Care Res, Amsterdam.
    One small edit for humans, one giant edit for humankind? Points and questions to consider for a responsible way forward for gene editing in humans2018In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 26, no 1, p. 1-11Article in journal (Refereed)
    Abstract [en]

    Gene editing, which allows for specific location(s) in the genome to be targeted and altered by deleting, adding or substituting nucleotides, is currently the subject of important academic and policy discussions. With the advent of efficient tools, such as CRISPR-Cas9, the plausibility of using gene editing safely in humans for either somatic or germ line gene editing is being considered seriously. Beyond safety issues, somatic gene editing in humans does raise ethical, legal and social issues (ELSI), however, it is suggested to be less challenging to existing ethical and legal frameworks; indeed somatic gene editing is already applied in (pre-) clinical trials. In contrast, the notion of altering the germ line or embryo such that alterations could be heritable in humans raises a large number of ELSI; it is currently debated whether it should even be allowed in the context of basic research. Even greater ELSI debates address the potential use of germ line or embryo gene editing for clinical purposes, which, at the moment is not being conducted and is prohibited in several jurisdictions. In the context of these ongoing debates surrounding gene editing, we present herein guidance to further discussion and investigation by highlighting three crucial areas that merit the most attention, time and resources at this stage in the responsible development and use of gene editing technologies: (1) conducting careful scientific research and disseminating results to build a solid evidence base; (2) conducting ethical, legal and social issues research; and (3) conducting meaningful stakeholder engagement, education and dialogue.

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  • 25. Kalokairinou, L
    et al.
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Slokenberga, Santa
    Uppsala University, Disciplinary Domain of Humanities and Social Sciences, Faculty of Law, Department of Law. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Fisher, E
    Flatscher-Thöni, M
    Hartlev, M
    van Hellemondt, R
    Juškevičius, J
    Kapelenska-Pregowska, J
    Kováč, P
    Lovrečić, L
    Nys, H
    de Paor, A
    Phillips, A
    Prudil, L
    Rial-Sebbag, E
    Romeo Casabona, CM
    Sándor, J
    Schuster, A
    Soini, S
    Søvig, KH
    Stoffel, D
    Titma, T
    Trokanas, R
    Borry, P
    Legislation of direct-to-consumer genetic testing in Europe:: a fragmented regulatory landscape2018In: Journal of Community Genetics, ISSN 1868-310X, E-ISSN 1868-6001, Vol. 9, no 2, p. 117-132Article, review/survey (Refereed)
    Abstract [en]

    Despite the increasing availability of direct-to-consumer (DTC) genetic testing, it is currently unclear how such services are regulated in Europe, due to the lack of EU or national legislation specifically addressing this issue. In this article, we provide an overview of laws that could potentially impact the regulation of DTC genetic testing in 26 European countries, namely Austria, Belgium, Cyprus, the Czech Republic, Denmark, Estonia, Finland, France, Germany, Greece, Hungary, Ireland, Italy, Latvia, Lithuania, Luxembourg, Norway, Poland, Portugal, Romania, Slovakia, Slovenia, Spain, Sweden, the Netherlands and the United Kingdom. Emphasis is placed on provisions relating to medical supervision, genetic counselling and informed consent. Our results indicate that currently there is a wide spectrum of laws regarding genetic testing in Europe. There are countries (e.g. France and Germany) which essentially ban DTC genetic testing, while in others (e.g. Luxembourg and Poland) DTC genetic testing may only be restricted by general laws, usually regarding health care services and patients’ rights.

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  • 26.
    Kalokairinou, Louiza
    et al.
    Univ Leuven, Ctr Biomed Eth & Law, Dept Publ Hlth & Primary Care, Leuven, Belgium.
    Borry, Pascal
    Univ Leuven, Ctr Biomed Eth & Law, Dept Publ Hlth & Primary Care, Leuven, Belgium.
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Attitudes and experiences of European clinical geneticists towards direct-to-consumer genetic testing: a qualitative interview study2019In: New genetics and society (Print), ISSN 1463-6778, E-ISSN 1469-9915, Vol. 38, no 4, p. 410-429Article in journal (Refereed)
    Abstract [en]

    Direct-to-consumer (DTC) genetic tests (GT) enable consumers to access a wide range of GT, without involving a healthcare professional, promoting an increasing disassociation of genetics from the clinical context. This study explores, through semi-structured interviews, the experiences and attitudes of European clinical geneticists towards DTCGT. Our results indicate that the participants have limited experience of consultations with patients regarding such tests. The majority of participants stated that consumers purchased tests out of curiosity and sought a general interpretation of test results by a healthcare professional. Most respondents were skeptical of the quality of tests, especially regarding their clinical utility. The participants supported the importance of medical supervision and genetic counseling in this context. Finally, most respondents considered it their duty to accept consultations concerning DTCGT results. However, due to concerns over limited time and potential downstream costs, some participants supported that a prioritization system based on guidelines would be necessary.

  • 27.
    Kalokairinou, Louiza
    et al.
    Univ Leuven, Dept Publ Hlth & Primary Care, Ctr Biomed Eth & Law, Leuven, Belgium..
    Borry, Pascal
    Univ Leuven, Dept Publ Hlth & Primary Care, Ctr Biomed Eth & Law, Leuven, Belgium..
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    'It's much more grey than black and white': clinical geneticists' views on the oversight of consumer genomics in Europe2020In: Personalized Medicine, ISSN 1741-0541, E-ISSN 1744-828X, Vol. 17, no 2, p. 129-140Article in journal (Refereed)
    Abstract [en]

    Aim: Direct-to-consumer (DTC) genetic tests (GT) have created controversy regarding their risks and benefits. In view of recent regulatory developments, this article aims to explore the attitudes of European clinical geneticists toward the oversight of DTC GT.

    Materials & methods: Fifteen semi-structured interviews were performed with clinical geneticists based in ten European countries. The transcripts were thematically analysized in an iterative process.

    Results & conclusion: Respondents strongly supported quality standards for DTC GT equal to those applied within the healthcare setting. Despite participants unanimously considering the involvement of healthcare professionals to be important, mandatory medical supervision was controversial. In this regard, promoting education and truth-in-advertising was considered as being key in maintaining a balance between protecting consumers and promoting their autonomy.

  • 28.
    Kalokairinou, Louiza
    et al.
    Univ Leuven, Ctr Biomed Eth & Law, Dept Publ Hlth & Primary Care, Leuven, Belgium..
    Borry, Pascal
    Univ Leuven, Ctr Biomed Eth & Law, Dept Publ Hlth & Primary Care, Leuven, Belgium..
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Regulating the advertising of genetic tests in Europe: a balancing act2017In: Journal of Medical Genetics, ISSN 0022-2593, E-ISSN 1468-6244, Vol. 54, no 10, p. 651-656Article in journal (Refereed)
    Abstract [en]

    Direct-to-consumer (DTC) genetic tests (GT) have provoked criticism over their potential adverse impact on public health. The European Parliament called for a ban on DTC advertising of GT during the debate for the adoption of a European Regulation on in vitro diagnostic medical devices. This proposal, however, was not ultimately retained in the final text. Instead, the regulation includes an article prohibiting misleading claims for this kind of advertising. These two different approaches raise questions about the optimal degree of regulation. Herein, we provide an overview of the ways GT have been advertised and related ethical issues. Subsequently, the laws regulating the advertising of GT at the European Union and national level are examined. Finally, recent regulatory developments are discussed.

  • 29. Kalokairinou, Louiza
    et al.
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Borry, Pascal
    Changes on the horizon for consumer genomics in the EU2014In: Science, ISSN 0036-8075, E-ISSN 1095-9203, Vol. 346, no 6207, p. 296-298Article in journal (Other academic)
  • 30. Knoppers, Bartha Maria
    et al.
    Avard, Denise
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Direct-to-consumer genetic testing: driving choice?2010In: Expert Review of Molecular Diagnostics, ISSN 1473-7159, E-ISSN 1744-8352, Vol. 10, no 8, p. 965-8Article in journal (Refereed)
  • 31.
    Middleton, Anna
    et al.
    Wellcome, Connecting Sci, Soc & Eth Res Grp, Genome Campus, Cambridge, England..
    Mendes, Alvaro
    Univ Porto, I3S, IBMC Inst Mol & Cell Biol, UnIGENe, Oporto, Portugal.;Univ Porto, I3S, IBMC Inst Mol & Cell Biol, Ctr Predict & Prevent Genet CGPP, Oporto, Portugal..
    Benjamin, Caroline M.
    Univ Cent Lancashire, Sch Community Hlth & Midwifery, Preston, Lancs, England.;Liverpool Womens NHS Hosp Trust, Liverpool, Merseyside, England..
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Direct-to-consumer genetic testing: where and how does genetic counseling fit?2017In: Personalized Medicine, ISSN 1741-0541, E-ISSN 1744-828X, Vol. 14, no 3, p. 249-257Article in journal (Refereed)
    Abstract [en]

    Direct-to-consumer genetic testing for disease ranges from well-validated diagnostic and predictive tests to 'research' results conferring increased risks. While being targeted at public curious about their health, they are also marketed for use in reproductive decision-making or management of disease. By virtue of being 'direct-to-consumer' much of this testing bypasses traditional healthcare systems. We argue that direct-to-consumer genetic testing companies should make genetic counseling available, pre- as well as post-test. While we do not advocate that mandatory genetic counseling should gate-keep access to direct-to-consumer genetic testing, if the testing process has the potential to cause psychological distress, then companies have a responsibility to provide support and should not rely on traditional healthcare systems to pick up the pieces.

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  • 32. Middleton, Anna
    et al.
    Milne, Richard
    Almarri, Mohamed A
    Anwer, Shamim
    Atutornu, Jerome
    Baranova, Elena E
    Bevan, Paul
    Cerezo, Maria
    Cong, Yali
    Critchley, Christine
    Fernow, Josepine
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Goodhand, Peter
    Hasan, Qurratulain
    Hibino, Aiko
    Houeland, Gry
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Hussain, S Zakir
    Ingvoldstad, Charlotta
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Caring Sciences. Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Lifestyle and rehabilitation in long term illness. Department of Molecular Medicine and Surgery, Karolinska Institutet, Solna, Sweden.
    Izhevskaya, Vera L
    Jędrzejak, Aleksandra
    Jinhong, Cao
    Kimura, Megumi
    Kleiderman, Erika
    Leach, Brandi
    Liu, Keying
    Mascalzoni, Deborah
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Mendes, Álvaro
    Minari, Jusaku
    Wang, Nan
    Nicol, Dianne
    Niemiec, Emilia
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Patch, Christine
    Pollard, Jack
    Prainsack, Barbara
    Rivière, Marie
    Robarts, Lauren
    Roberts, Jonathan
    Romano, Virginia
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Sheerah, Haytham A
    Smith, James
    Soulier, Alexandra
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Steed, Claire
    Stefànsdóttir, Vigdís
    Tandre, Cornelia
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Thorogood, Adrian
    Voigt, Torsten H
    West, Anne V
    Yoshizawa, Go
    Morley, Katherine I
    Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data?2020In: American Journal of Human Genetics, ISSN 0002-9297, E-ISSN 1537-6605, Vol. 107, no 4, p. 743-752Article in journal (Refereed)
    Abstract [en]

    Analyzing genomic data across populations is central to understanding the role of genetic factors in health and disease. Successful data sharing relies on public support, which requires attention to whether people around the world are willing to donate their data that are then subsequently shared with others for research. However, studies of such public perceptions are geographically limited and do not enable comparison. This paper presents results from a very large public survey on attitudes toward genomic data sharing. Data from 36,268 individuals across 22 countries (gathered in 15 languages) are presented. In general, publics across the world do not appear to be aware of, nor familiar with, the concepts of DNA, genetics, and genomics. Willingness to donate one's DNA and health data for research is relatively low, and trust in the process of data's being shared with multiple users (e.g., doctors, researchers, governments) is also low. Participants were most willing to donate DNA or health information for research when the recipient was specified as a medical doctor and least willing to donate when the recipient was a for-profit researcher. Those who were familiar with genetics and who were trusting of the users asking for data were more likely to be willing to donate. However, less than half of participants trusted more than one potential user of data, although this varied across countries. Genetic information was not uniformly seen as different from other forms of health information, but there was an association between seeing genetic information as special in some way compared to other health data and increased willingness to donate. The global perspective provided by our "Your DNA, Your Say" study is valuable for informing the development of international policy and practice for sharing genomic data. It highlights that the research community not only needs to be worthy of trust by the public, but also urgent steps need to be taken to authentically communicate why genomic research is necessary and how data donation, and subsequent sharing, is integral to this.

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  • 33. Middleton, Anna
    et al.
    Milne, Richard
    Howard, Heidi
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Niemiec, Emilia
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Robarts, Lauren
    Critchley, Christine
    Nicol, Dianne
    Prainsack, Barbara
    Atutornu, Jerome
    Vears, Danya F.
    Smith, James
    Steed, Claire
    Bevan, Paul
    Scott, Erick R.
    Bobe, Jason
    Goodhand, Peter
    Kleiderman, Erika
    Thorogood, Adrian
    Morley, Katherine I.
    Members of the public in the USA, UK, Canada and Australia expressing genetic exceptionalism say they are more willing to donate genomic data2020In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 28, no 4, p. 424-434Article in journal (Refereed)
    Abstract [en]

    Public acceptance is critical for sharing of genomic data at scale. This paper examines how acceptance of data sharing pertains to the perceived similarities and differences between DNA and other forms of personal data. It explores the perceptions of representative publics from the USA, Canada, the UK and Australia (n = 8967) towards the donation of DNA and health data. Fifty-two percent of this public held 'exceptionalist' views about genetics (i.e., believed DNA is different or 'special' compared to other types of medical information). This group was more likely to be familiar with or have had personal experience with genomics and to perceive DNA information as having personal as well as clinical and scientific value. Those with personal experience with genetics and genetic exceptionalist views were nearly six times more likely to be willing to donate their anonymous DNA and medical information for research than other respondents. Perceived harms from re-identification did not appear to dissuade publics from being willing to participate in research. The interplay between exceptionalist views about genetics and the personal, scientific and clinical value attributed to data would be a valuable focus for future research.

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  • 34.
    Middleton, Anna
    et al.
    Connecting Sci, Soc & Eth Res, Wellcome Genome Campus, Cambridge, England;Univ Cambridge, Fac Educ, Cambridge, England.
    Milne, Richard
    Thorogood, Adrian
    Kleiderman, Erika
    Niemiec, Emilia
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Prainsack, Barbara
    Farley, Lauren
    Bevan, Paul
    Steed, Claire
    Smith, James
    Vears, Danya
    Atutornu, Jerome
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Morley, Katherine I
    Connecting Sci, Soc & Eth Res, Wellcome Genome Campus, Cambridge, England;Kings Coll London, Inst Psychiat Psychol & Neurosci, London, England;Univ Melbourne, Ctr Epidemiol & Biostat, Melbourne Sch Global & Populat Hlth, Melbourne, Vic, Australia.
    Attitudes of publics who are unwilling to donate DNA data for research.2019In: European Journal of Medical Genetics, ISSN 1769-7212, E-ISSN 1878-0849, Vol. 62, no 5, p. 316-323Article in journal (Refereed)
    Abstract [en]

    With the use of genetic technology, researchers have the potential to inform medical diagnoses and treatment in actionable ways. Accurate variant interpretation is a necessary condition for the utility of genetic technology to unfold. This relies on the ability to access large genomic datasets so that comparisons can be made between variants of interest. This can only be successful if DNA and medical data are donated by large numbers of people to 'research', including clinical, non-profit and for-profit research initiatives, in order to be accessed by scientists and clinicians worldwide. The objective of the 'Your DNA, Your Say' global survey is to explore public attitudes, values and opinions towards willingness to donate and concerns regarding the donation of one's personal data for use by others. Using a representative sample of 8967 English-speaking publics from the UK, the USA, Canada and Australia, we explore the characteristics of people who are unwilling (n = 1426) to donate their DNA and medical information, together with an exploration of their reasons. Understanding this perspective is important for making sense of the interaction between science and society. It also helps to focus engagement initiatives on the issues of concern to some publics.

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  • 35. Middleton, Anna
    et al.
    Niemiec, Emilia
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Prainsack, Barbara
    Bobe, Jason
    Farley, Lauren
    Steed, Claire
    Smith, James
    Bevan, Paul
    Bonhomme, Natasha
    Kleiderman, Erika
    Thorogood, Adrian
    Schickhardt, Christoph
    Garattini, Chiara
    Vears, Danya
    Littler, Katherine
    Banner, Natalie
    Scott, Erick
    Kovalevskaya, Nadezda V
    Levin, Elissa
    Morley, Katherine I
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    'Your DNA, Your Say': global survey gathering attitudes toward genomics: design, delivery and methods2018In: Personalized Medicine, ISSN 1741-0541, E-ISSN 1744-828X, Vol. 15, no 4, p. 311-318Article in journal (Refereed)
    Abstract [en]

    Our international study, 'Your DNA, Your Say', uses film and an online cross-sectional survey to gather public attitudes toward the donation, access and sharing of DNA information. We describe the methodological approach used to create an engaging and bespoke survey, suitable for translation into many different languages. We address some of the particular challenges in designing a survey on the subject of genomics. In order to understand the significance of a genomic result, researchers and clinicians alike use external databases containing DNA and medical information from thousands of people. We ask how publics would like their 'anonymous' data to be used (or not to be used) and whether they are concerned by the potential risks of reidentification; the results will be used to inform policy.

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  • 36. Milne, Richard
    et al.
    Morley, Katherine I.
    Howard, Heidi
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Niemiec, Emilia
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Nicol, Dianne
    Critchley, Christine
    Prainsack, Barbara
    Vears, Danya
    Smith, James
    Steed, Claire
    Bevan, Paul
    Atutornu, Jerome
    Farley, Lauren
    Goodhand, Peter
    Thorogood, Adrian
    Kleiderman, Erika
    Middleton, Anna
    Trust in genomic data sharing among members of the general public in the UK, USA, Canada and Australia2019In: Human Genetics, ISSN 0340-6717, E-ISSN 1432-1203, Vol. 138, no 11-12, p. 1237-1246Article in journal (Refereed)
    Abstract [en]

    Trust may be important in shaping public attitudes to genetics and intentions to participate in genomics research and big data initiatives. As such, we examined trust in data sharing among the general public. A cross-sectional online survey collected responses from representative publics in the USA, Canada, UK and Australia (n = 8967). Participants were most likely to trust their medical doctor and less likely to trust other entities named. Company researchers were least likely to be trusted. Low, Variable and High Trust classes were defined using latent class analysis. Members of the High Trust class were more likely to be under 50 years, male, with children, hold religious beliefs, have personal experience of genetics and be from the USA. They were most likely to be willing to donate their genomic and health data for clinical and research uses. The Low Trust class were less reassured than other respondents by laws preventing exploitation of donated information. Variation in trust, its relation to areas of concern about the use of genomic data and potential of legislation are considered. These findings have relevance for efforts to expand genomic medicine and data sharing beyond those with personal experience of genetics or research participants.

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  • 37.
    Niemiec, Emilia
    et al.
    Univ Bologna, CIRSFID, Erasmus Plus Doctoral Programme Law Sci & Technol, Via Galliera 3, I-40121 Bologna, Italy.;Univ Turin, Dept Law, Turin, Italy.;Leibniz Univ Hannover, Ctr Eth & Law Life Sci, Hannover, Germany..
    Borry, Pascal
    Katholieke Univ Leuven, Ctr Biomed Eth & Law, Dept Publ Hlth & Primary Care, Leuven, Belgium..
    Pinxten, Wim
    Hasselt Univ, Fac Med & Life Sci, Hasselt, Belgium..
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Content Analysis of Informed Consent for Whole Genome Sequencing Offered by Direct-to-Consumer Genetic Testing Companies2016In: Human Mutation, ISSN 1059-7794, E-ISSN 1098-1004, Vol. 37, no 12, p. 1248-1256Article in journal (Refereed)
    Abstract [en]

    Whole exome sequencing (WES) and whole genome sequencing (WGS) have become increasingly available in the research and clinical settings and are now also being offered by direct-to-consumer (DTC) genetic testing (GT) companies. This offer can be perceived as amplifying the already identified concerns regarding adequacy of informed consent (IC) for both WES/WGS and the DTC GT context. We performed a qualitative content analysis of Websites of four companies offering WES/WGS DTC regarding the following elements of IC: pre-test counseling, benefits and risks, and incidental findings (IFs). The analysis revealed concerns, including the potential lack of pre-test counseling in three of the companies studied, missing relevant information in the risks and benefits sections, and potentially misleading information for consumers. Regarding IFs, only one company, which provides opportunistic screening, provides basic information about their management. In conclusion, some of the information (and related practices) present on the companies' Web pages salient to the consent process are not adequate in reference to recommendations for IC for WGS or WES in the clinical context. Requisite resources should be allocated to ensure that commercial companies are offering high-throughput sequencing under responsible conditions, including an adequate consent process.

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  • 38.
    Niemiec, Emilia
    et al.
    Univ Bologna, Joint Int PhD Program Law Sci & Technol, Via Galliera 3, I-40121 Bologna, Italy.;Univ Turin, Dept Law, Lungo Dora Siena 100 A, I-10153 Turin, Italy.;Leibniz Univ Hannover, Ctr Eth & Law Life Sci, Klagesmarkt 14-17, D-30159 Hannover, Germany..
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Ethical issues in consumer genome sequencing: Use of consumers' samples and data2016In: Applied and Translational Genomics, ISSN 2212-0661, Vol. 8, p. 23-30Article in journal (Refereed)
    Abstract [en]

    High throughput approaches such as whole genome sequencing (WGS) and whole exome sequencing (WES) create an unprecedented amount of data providing powerful resources for clinical care and research. Recently, WGS and WES services have been made available by commercial direct-to-consumer (DTC) companies. The DTC offer of genetic testing (GT) has already brought attention to potentially problematic issues such as the adequacy of consumers' informed consent and transparency of companies' research activities. In this study, we analysed the websites of four DTC GT companies offering WGS and/or WES with regard to their policies governing storage and future use of consumers' data and samples. The results are discussed in relation to recommendations and guiding principles such as the "Statement of the European Society of Human Genetics on DTC GT for health-related purposes" (2010) and the "Framework for responsible sharing of genomic and health-related data" (Global Alliance for Genomics and Health, 2014). The analysis reveals that some companies may store and use consumers' samples or sequencing data for unspecified research and share the datawith third parties. Moreover, the companies do not provide sufficient or clear information to consumers about this, which can undermine the validity of the consent process. Furthermore, while all companies state that they provide privacy safeguards for data and mention the limitations of these, information about the possibility of re-identification is lacking. Finally, although the companies that may conduct research do include information regarding proprietary claims and commercialisation of the results, it is not clear whether consumers are aware of the consequences of these policies. These results indicate that DTC GT companies still need to improve the transparency regarding handling of consumers' samples and data, including having an explicit and clear consent process for research activities.

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  • 39.
    Niemiec, Emilia
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Ethical issues related to research on genome editing in human embryos2020In: Computational and Structural Biotechnology Journal, ISSN 1641-8581, E-ISSN 2047-2390, Vol. 18, p. 887-896Article in journal (Refereed)
    Abstract [en]

    Although the potential advantages of clinical germline genome editing (GGE) over currently available methods are limited, the implementation of GGE in the clinic has been proposed and discussed. Ethical issues related to such an application have been extensively debated, meanwhile, seemingly less attention has been paid to ethical implications of studies which would have to be conducted in order to evaluate potential clinical uses of GGE.

    In this article, we first provide an overview of the debate on potential clinical uses of GGE. Then, we discuss questions and ethical issues related to the studies relevant to evaluation of potential clinical uses of GGE. In particular, we describe the problems related to the acceptable safety threshold, current technical hurdles in human GGE, the destruction of human embryos used in the experiments, involvement of egg donors, and genomic sequencing performed on the samples of the research participants.

    The technical and ethical problems related to studies on GGE should be acknowledged and carefully considered in the process of deciding to apply technology in such a way that will provide benefits and minimize harms. (C) 2020 The Authors. Published by Elsevier B.V. on behalf of Research Network of Computational and Structural Biotechnology.

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  • 40.
    Niemiec, Emilia
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    "Genethics" and Public Health Genomics2020In: Applied Genomics and Public Health / [ed] George P. Patrinos, San Diego: Academic Press , 2020, 1, p. 243-257Chapter in book (Other academic)
    Abstract [en]

    In this chapter, we first reflect on approaches to public health, ethical positions on public health issues, and definitions of health. We subsequently present ethical, legal, and social issues in genetics and genomics, with particular attention to public health and the historical perspective. We then discuss the issues related to the implementation of genomic technologies in public health with focus on genomic sequencing used for diagnosis, screening, its applications in the context of reproductive technologies, and the potential use of genome editing technology in the germline. Our reflections indicate that to ensure the ethical use of genomic technologies in public health, we should be transparent about the limitations of these technologies, risks and uncertainties involved, stakeholders and their interests, including the most vulnerable who may be affected, and about the values guiding practice of public health genomics.

  • 41.
    Niemiec, Emilia
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Germline Genome Editing Research: What Are Gamete Donors (Not) Informed About in Consent Forms?2020In: The CRISPR Journal, ISSN 2573-1599, Vol. 3, no 1, p. 52-63Article in journal (Refereed)
    Abstract [en]

    The potential for using germline genome editing (GGE) in humans has garnered a lot of attention, both for its scientific possibilities as well as for the ethical, legal, and social challenges it ignites. The ethical debate has focused primarily on the suggestions of using GGE to establish a pregnancy (i.e., to offer it in a clinical setting), which is, to date, illegal in many jurisdictions. The use of GGE in research (where a pregnancy would not be established) has received much less attention, despite the fact that it raises serious ethical and social issues as well. Herein, we report on the analysis of informed consent forms for egg and sperm donation used in a widely publicized study where genome editing was used to correct a disease-causing genetic mutation in human embryos. Importantly, embryos were created using eggs and sperm obtained specifically for these experiments. The analysis indicates deficiencies in how the forms addressed various issues, including limited and potentially misleading information about the sensitive nature of the study, the lack of an explicit mention of genomic sequencing, as well as the poor readability of the forms. Furthermore, the arguably high compensation of U.S.$5,000 for egg donors raises questions about undue inducement to participate in research. Moreover, since the procurement of eggs involves serious health risks, it may be questioned whether research requiring such a procedure should be pursued. If such experiments are continued, donors should be informed about all relevant aspects in order to make informed decisions about participating.

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  • 42.
    Niemiec, Emilia
    et al.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Include egg donors in CRISPR gene-editing debate2019In: Nature, ISSN 0028-0836, E-ISSN 1476-4687, Vol. 575, no 7781, p. 51-51Article in journal (Other academic)
  • 43.
    Niemiec, Emilia
    et al.
    Univ Bologna, Interdept Ctr Res Hist Philosophy & Sociol Law &, I-40121 Bologna, Italy.; Univ Turin, Dept Law, I-10153 Turin, Italy.; Leibniz Univ Hannover, Ctr Eth & Law Life Sci, Inst Philosophy, D-30159 Hannover, Germany.
    Kalokairinou, Louiza
    Katholieke Univ Leuven, Ctr Biomed Eth & Law, Dept Publ Hlth & Primary Care, B-3000 Leuven, Belgium.
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Current ethical and legal issues in health-related direct-to-consumer genetic testing2017In: Personalized Medicine, ISSN 1741-0541, E-ISSN 1744-828X, Vol. 14, no 5, p. 433-445Article, review/survey (Refereed)
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  • 44. Niemiec, Emilia
    et al.
    Vears, D. F.
    Borry, P.
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Readability of informed consent forms for whole-exome and whole-genome sequencing2018In: Journal of Community Genetics, ISSN 1868-310X, E-ISSN 1868-6001, Vol. 9, no 2, p. 143-151Article in journal (Refereed)
    Abstract [en]

    Whole-exome and whole-genome sequencing (WES, WGS) can generate an unprecedented amount of complex information, making the informed consent (IC) process challenging. The aim of our study was to assess the readability of English IC forms for clinical whole-exome and whole-genome sequencing using the SMOG and Flesch-Kincaid formulas. We analysed 36 forms, most of which were from US providers. The median readability grade levels were 14.75 (the SMOG formula) and 12.2 (the Flesch-Kincaid formula); these values indicate the years of education after which a person would be able to understand a text studied. All forms studied seem to fail to meet the average recommended readability grade level of 8 (e.g. by Institutional Review Boards of US medical schools) for IC forms, indicating that the content of the forms may not be comprehensible to many patients. The sections aimed at health care professionals (HCPs) in the forms indicate that HCPs should be responsible for explaining IC information to the patients. However, WES and WGS may be increasingly offered by primary care professionals who may not (yet) have sufficient training to be able to communicate effectively with patients about genomics. Therefore, to secure an adequate, truly informed consent process, the task of developing good, legible examples of IC forms along with educating HCPs in genomics should be taken seriously, and adequate resources should be allocated to enable these tasks.

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  • 45.
    Oliveri, Serena
    et al.
    Univ Milan, Dept Oncol & Hematooncol, Interdisciplinary Res Ctr Decis Making Proc IRIDe, Milan, Italy.;IEO, Appl Res Div Cognit & Psychol Sci, Milan, Italy..
    Howard, Heidi C.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Renzi, Chiara
    IEO, Appl Res Div Cognit & Psychol Sci, Milan, Italy..
    Hansson, Mats G.
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Pravettoni, Gabriella
    Univ Milan, Dept Oncol & Hematooncol, Interdisciplinary Res Ctr Decis Making Proc IRIDe, Milan, Italy.;IEO, Appl Res Div Cognit & Psychol Sci, Milan, Italy..
    Anxiety delivered direct-to-consumer: are we asking the right questions about the impacts of DTC genetic testing?2016In: Journal of Medical Genetics, ISSN 0022-2593, E-ISSN 1468-6244, Vol. 53, no 12, p. 798-799Article in journal (Refereed)
  • 46.
    Ormond, Kelly E.
    et al.
    Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA;Stanford Univ, Sch Med, Stanford Ctr Biomed Eth, Stanford, CA 94305 USA.
    Bombard, Yvonne
    Univ Toronto, Inst Hlth Policy Management & Evaluat, Toronto, ON, Canada;St Michaels Hosp, Li Ka Shing Knowledge Inst, Toronto, ON, Canada.
    Bonham, Vence L.
    NHGRI, Social & Behav Res Branch, NIH, Bethesda, MD 20892 USA.
    Hoffman-Andrews, Lily
    Penn Med, Penn Ctr Inherited Cardiac Dis, Philadelphia, PA 19104 USA.
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics. Wellcome Genome Campus, Connecting Sci, Soc & Eth Res, Cambridge, England.
    Isasi, Rosario
    Univ Miami, Miller Sch Med, Dr JT Macdonald Fdn, Inst Bioeth & Hlth Policy,Dept Human Genet, Miami, FL 33136 USA.
    Musunuru, Kiran
    Univ Penn, Dept Med, Perelman Sch Med, Philadelphia, PA 19104 USA.
    Riggan, Kirsten A.
    Mayo Clin, Biomed Eth Res Program, Rochester, MN 55905 USA.
    Michie, Marsha
    Case Western Reserve Univ, Sch Med, Dept Bioeth, Cleveland, OH 44106 USA.
    Allyse, Megan
    Mayo Clin, Biomed Eth Res Program, Rochester, MN 55905 USA;Mayo Clin, Ctr Individualized Med, Rochester, MN 55905 USA.
    The clinical application of gene editing: ethical and social issues2019In: Personalized Medicine, ISSN 1741-0541, E-ISSN 1744-828X, Vol. 16, no 4, p. 337-350Article in journal (Refereed)
    Abstract [en]

    Gene-editing techniques have progressed rapidly in the past 5years. There are already ongoing human somatic gene-editing clinical trials for multiple diseases. And there has been one purported scenario of human germline gene editing in late 2018. In this paper, we will review the current state of the technology, discuss the ethical and social issues that surround the various forms of gene editing, as well as review emerging stakeholder data from professionals, the general public' and individuals and families dealing with genetic diseases potentially treatable by gene editing.

  • 47. Phillips, Amicia
    et al.
    Niemiec, Emilia
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Kagkelari, Kalliopi
    Borry, Pascal
    Vears, Danya F
    Communicating genetic information to family members analysis of consent forms for diagnostic genomic sequencing2020In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 28, no 9, p. 1160-1167Article in journal (Refereed)
    Abstract [en]

    Communicating results from genomic sequencing to family members can play an essential role allowing access to surveillance, prevention, treatment or prophylactic measures. Yet, many patients struggle with communication of these results and it is unclear to what extent this is discussed during the consent process. We conducted an online systematic search and used content analysis to explore how consent forms for genomic sequencing address communication of genetic information to family members. Our search yielded 68 consent forms from 11 countries. Although 57 forms alluded to the familial nature of results, forms varied in their discussion of the potential familial implications of results. Only 11 addressed communication of genetic information with family members, with differences in who would be responsible for this process. Several forms offered patients options regarding communication, even in countries where national guidelines and legislation allow for the disclosure of results in the absence of patient consent. These findings are concerning because they show how forms may potentially mislead patients and health care professionals about whether communication is permissible in cases where the patient does not consent. We suggest that providers and health care professionals reconsider how consent forms address communicating genetic information to family members.

  • 48. Pinxten, Wim
    et al.
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Ethical issues raised by whole genome sequencing2014In: Baillière's Best Practice & Research: Clinical Gastroenterology, ISSN 1521-6918, E-ISSN 1532-1916, Vol. 28, no 2, p. 269-279Article in journal (Refereed)
    Abstract [en]

    While there is ongoing discussion about the details of implementation of whole genome sequencing (WGS) and whole exome sequencing (WES), there appears to be a consensus amongst geneticists that the widespread use of these approaches is not only inevitable, but will also be beneficial [1]. However, at the present time, we are unable to anticipate the full range of uses, consequences and impact of implementing WGS and WES. Nevertheless, the already known ethical issues, both in research and in clinical practice are diverse and complex and should be addressed properly presently. Herein, we discuss the ethical aspects of WGS and WES by particularly focussing on three overlapping themes: (1) informed consent, (2) data handling, and (3) the return of results.

  • 49. Raz, Aviad E.
    et al.
    Niemiec, Emilia
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Sterckx, Sigrid
    Cockbain, Julian
    Prainsack, Barbara
    Transparency, consent and trust in the use of customers' data by an online genetic testing company:: an Exploratory survey among 23andMe users2020In: New genetics and society (Print), ISSN 1463-6778, E-ISSN 1469-9915, Vol. 39, no 4, p. 459-482Article in journal (Refereed)
    Abstract [en]

    23andMe not only sells genetic testing but also uses customer data in its R&D activities and commercial partnerships. This raises questions about transparency and informed consent. Based on a online survey conducted in 2017-18, we examine attitudes of 368 customers of 23andMe toward the company's use of their data. Our findings point at divides in the context of customers' awareness of the two-sided business model of DTC genetics and their attitudes toward consent. While most of our respondents (68%) were aware that 23andMe could store their data and use it for certain purposes without their consent, over 40% were not aware that using and sharing customer data was part of the business model. Views were also divided regarding what type of consent was most appropriate. We explore the implications of these divides for participatory research and for the importance of transparency and trust in commercially-driven scientific knowledge production.

  • 50.
    Samuel, Gabrielle
    et al.
    Kings Coll London, Dept Global Hlth & Social Med, London, England.
    Howard, Heidi Carmen
    Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Public Health and Caring Sciences, Centre for Research Ethics and Bioethics.
    Cornel, Martina
    Amsterdam UMC, Amsterdam Publ Hlth Res Inst, Dept Clin Genet, Sect Community Genet, Amsterdam, Netherlands.
    van El, Carla
    Amsterdam UMC, Amsterdam Publ Hlth Res Inst, Dept Clin Genet, Sect Community Genet, Amsterdam, Netherlands.
    Hall, Alison
    PHG Fdn, 2 Worts Causeway, Cambridge CB1 8RN, England.
    Forzano, Francesca
    Guys & St Thomas NHS Fdn Trust, Clin Genet Dept, London, England.
    Prainsack, Barbara
    Kings Coll London, Dept Global Hlth & Social Med, London, England;Univ Vienna, Dept Polit Sci, Vienna, Austria.
    A response to the forensic genetics policy initiative's report "Establishing Best Practice for Forensic DNA Databases"2018In: Forensic Science International: Genetics, ISSN 1872-4973, E-ISSN 1878-0326, Vol. 36, p. E19-E21Article in journal (Other academic)
12 1 - 50 of 60
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