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  • 1. 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, 101-106 p.Article 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.

  • 2. 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, 972-7 p.Article 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.

  • 3. 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, 51-9 p.Article 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.

  • 4. 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, 630-2 p.Article in journal (Refereed)
  • 5. 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, 169- p.Article in journal (Refereed)
  • 6. 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, 715-21 p.Article 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.

  • 7.
    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, 1438-1450 p.Article 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.

  • 8.
    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, E1-E12 p.Article 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.

  • 9.
    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, 579-82 p.Article in journal (Refereed)
  • 10.
    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, 1593-1600 p.Article 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.

  • 11. 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 landscape2017In: Journal of Community Genetics, ISSN 1868-310X, E-ISSN 1868-6001Article, 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.

  • 12.
    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, 651-656 p.Article 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.

  • 13. 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, 296-298 p.Article in journal (Other academic)
  • 14. 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, 965-8 p.Article in journal (Refereed)
  • 15.
    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, 249-257 p.Article 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.

  • 16.
    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, 1248-1256 p.Article 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.

  • 17.
    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, 23-30 p.Article 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.

  • 18.
    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, 798-799 p.Article in journal (Refereed)
  • 19. 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, 269-279 p.Article 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.

  • 20. Severin, Franziska
    et al.
    Borry, Pascal
    Cornel, Martina C
    Daniels, Norman
    Fellmann, Florence
    Victoria Hodgson, Shirley
    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.
    John, Jürgen
    Kääriäinen, Helena
    Kayserili, Hülya
    Kent, Alastair
    Koerber, Florian
    Kristoffersson, Ulf
    Kroese, Mark
    Lewis, Celine
    Marckmann, Georg
    Meyer, Peter
    Pfeufer, Arne
    Schmidtke, Jörg
    Skirton, Heather
    Tranebjærg, Lisbeth
    Rogowski, Wolf H
    Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness2015In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 23, 729-735 p.Article in journal (Refereed)
    Abstract [en]

    Given the cost constraints of the European health-care systems, criteria are needed to decide which genetic services to fund from the public budgets, if not all can be covered. To ensure that high-priority services are available equitably within and across the European countries, a shared set of prioritization criteria would be desirable. A decision process following the accountability for reasonableness framework was undertaken, including a multidisciplinary EuroGentest/PPPC-ESHG workshop to develop shared prioritization criteria. Resources are currently too limited to fund all the beneficial genetic testing services available in the next decade. Ethically and economically reflected prioritization criteria are needed. Prioritization should be based on considerations of medical benefit, health need and costs. Medical benefit includes evidence of benefit in terms of clinical benefit, benefit of information for important life decisions, benefit for other people apart from the person tested and the patient-specific likelihood of being affected by the condition tested for. It may be subject to a finite time window. Health need includes the severity of the condition tested for and its progression at the time of testing. Further discussion and better evidence is needed before clearly defined recommendations can be made or a prioritization algorithm proposed. To our knowledge, this is the first time a clinical society has initiated a decision process about health-care prioritization on a European level, following the principles of accountability for reasonableness. We provide points to consider to stimulate this debate across the EU and to serve as a reference for improving patient management.

  • 21. Sterckx, Sigrid
    et al.
    Cockbain, Julian
    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.
    Huys, Isabelle
    Borry, Pascal
    "Trust is not something you can reclaim easily": patenting in the field of direct-to-consumer genetic testing.2013In: Genetics in Medicine, ISSN 1098-3600, E-ISSN 1530-0366, Vol. 15, no 5, 382-7 p.Article in journal (Refereed)
    Abstract [en]

    PURPOSE: Recently, 23andMe announced that it had obtained its first patent, related to "polymorphisms associated with Parkinson's disease" (US-B-8187811). This announcement immediately sparked controversy in the community of 23andMe users and research participants, especially with regard to issues of transparency and trust. The purpose of this article was to analyze the patent portfolio of this prominent direct-to-consumer genetic testing company and discuss the potential ethical implications of patenting in this field for public participation in Web-based genetic research.

    METHODS: We searched the publicly accessible patent database Espacenet as well as the commercially available database Micropatent for published patents and patent applications of 23andMe.

    RESULTS: Six patent families were identified for 23andMe. These included patent applications related to: genetic comparisons between grandparents and grandchildren, family inheritance, genome sharing, processing data from genotyping chips, gamete donor selection based on genetic calculations, finding relatives in a database, and polymorphisms associated with Parkinson disease.

    CONCLUSION: An important lesson to be drawn from this ongoing controversy seems to be that any (private or public) organization involved in research that relies on human participation, whether by providing information, body material, or both, needs to be transparent, not only about its research goals but also about its strategies and policies regarding commercialization.

  • 22. Su, Yeyang
    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.
    Borry, Pascal
    Users' motivations to purchase direct-to-consumer genome-wide testing: an exploratory study of personal stories.2011In: Journal of community genetics, ISSN 1868-6001, Vol. 2, no 3, 135-46 p.Article in journal (Refereed)
    Abstract [en]

    The relatively rapid growth of the direct-to-consumer (DTC) genetic testing market in the last few years has led to increasing attention from both the scientific community and policy makers. One voice often missing in these debates, however, is that of the actual user of these genetic testing services. In order to gain a better picture of the motivations and expectations that propel individuals to purchase DTC genome-wide testing, we conducted an exploratory study based on users' personal stories. Through qualitative content analysis of users' personal stories found on Internet blogs and DTC genetic testing companies' websites, we identified five major sets of motivations and expectations towards DTC genome-wide testing. These themes are related to (1) health, (2) curiosity and fascination, (3) genealogy, (4) contributing to research, and (5) recreation. Obtaining such information can help us to understand how users consider genome-wide testing and forms the basis for further research.

  • 23. van El, Carla G
    et al.
    Cornel, Martina C
    Borry, Pascal
    Hastings, Ros J
    Fellmann, Florence
    Hodgson, Shirley V
    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.
    Cambon-Thomsen, Anne
    Knoppers, Bartha M
    Meijers-Heijboer, Hanne
    Scheffer, Hans
    Tranebjaerg, Lisbeth
    Dondorp, Wybo
    de Wert, Guido M W R
    Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics.2013In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 21, no 6, 580-4 p.Article in journal (Refereed)
1 - 23 of 23
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