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Howard, Heidi CarmenORCID iD iconorcid.org/0000-0001-6149-5498
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Publications (10 of 41) Show all publications
Middleton, A., Milne, R., Thorogood, A., Kleiderman, E., Niemiec, E., Prainsack, B., . . . Morley, K. I. (2019). Attitudes of publics who are unwilling to donate DNA data for research.. Paper presented at World Congress on Genetic Counselling, 2017, Wellcome Genome Campus, Cambridge, ENGLAND. European Journal of Medical Genetics, 62(5), 316-323
Open this publication in new window or tab >>Attitudes of publics who are unwilling to donate DNA data for research.
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2019 (English)In: European Journal of Medical Genetics, ISSN 1769-7212, E-ISSN 1878-0849, Vol. 62, no 5, p. 316-323Article in journal (Refereed) Published
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.

National Category
Social Sciences Medical Genetics
Identifiers
urn:nbn:se:uu:diva-379623 (URN)10.1016/j.ejmg.2018.11.014 (DOI)000471120900006 ()30476628 (PubMedID)
Conference
World Congress on Genetic Counselling, 2017, Wellcome Genome Campus, Cambridge, ENGLAND
Available from: 2019-03-18 Created: 2019-03-18 Last updated: 2019-07-02Bibliographically approved
Cornel, M. C., Howard, H. C., Lim, D., Bonham, V. L. & Wartiovaara, K. (2019). Moving towards a cure in genetics: what is needed to bring somatic gene therapy to the clinic?. European Journal of Human Genetics, 27(3), 484-487
Open this publication in new window or tab >>Moving towards a cure in genetics: what is needed to bring somatic gene therapy to the clinic?
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2019 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 27, no 3, p. 484-487Article in journal (Refereed) Published
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.

Place, publisher, year, edition, pages
NATURE PUBLISHING GROUP, 2019
National Category
Medical Genetics
Identifiers
urn:nbn:se:uu:diva-378631 (URN)10.1038/s41431-018-0309-x (DOI)000458626500018 ()30568241 (PubMedID)
Available from: 2019-03-07 Created: 2019-03-07 Last updated: 2019-03-07Bibliographically approved
Carrieri, D., Howard, H. C., Benjamin, C., Clarke, A. J., Dheensa, S., Doheny, S., . . . Forzano, F. (2019). Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics. European Journal of Human Genetics, 27(2), 169-182
Open this publication in new window or tab >>Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics
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2019 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 27, no 2, p. 169-182Article in journal (Refereed) Published
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.

Place, publisher, year, edition, pages
NATURE PUBLISHING GROUP, 2019
National Category
Medical Ethics
Identifiers
urn:nbn:se:uu:diva-376808 (URN)10.1038/s41431-018-0285-1 (DOI)000455983900001 ()30310124 (PubMedID)
Available from: 2019-02-22 Created: 2019-02-22 Last updated: 2019-02-22Bibliographically approved
Carrieri, D., Howard, H. C., Clarke, A. J., Stefansdottir, V., Cornel, M. C., van El, C. G. & Forzano, F. (2019). Reply to Bombard and Mighton [Letter to the editor]. European Journal of Human Genetics, 27(4), 507-508
Open this publication in new window or tab >>Reply to Bombard and Mighton
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2019 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 27, no 4, p. 507-508Article in journal, Letter (Other academic) Published
National Category
Medical Genetics
Identifiers
urn:nbn:se:uu:diva-380666 (URN)10.1038/s41431-018-0315-z (DOI)000461167300002 ()30659262 (PubMedID)
Available from: 2019-04-01 Created: 2019-04-01 Last updated: 2019-04-01Bibliographically approved
Slokenberga, S. & Howard, H. C. (2019). THE RIGHT TO SCIENCE AND HUMAN GERMLINE EDITING. Sweden, its external commitments and the ambiguous national responses under the Genetic Integrity Act. Förvaltningsrättslig Tidskrift, 2, 199-222
Open this publication in new window or tab >>THE RIGHT TO SCIENCE AND HUMAN GERMLINE EDITING. Sweden, its external commitments and the ambiguous national responses under the Genetic Integrity Act
2019 (English)In: Förvaltningsrättslig Tidskrift, ISSN 0015-8585, Vol. 2, p. 199-222Article in journal (Refereed) Published
Keywords
Right to science; human germline editing ethics; Lag om genetisk integritet m.m., Genetic Integrity Act
National Category
Social Sciences
Research subject
Administrative Law; Medical Law
Identifiers
urn:nbn:se:uu:diva-383445 (URN)
Projects
SIENNA
Available from: 2019-05-15 Created: 2019-05-15 Last updated: 2019-07-02Bibliographically approved
Samuel, G., Howard, H. C., Cornel, M., van El, C., Hall, A., Forzano, F. & Prainsack, B. (2018). A response to the forensic genetics policy initiative's report "Establishing Best Practice for Forensic DNA Databases" [Letter to the editor]. Forensic Science International: Genetics, 36, E19-E21
Open this publication in new window or tab >>A response to the forensic genetics policy initiative's report "Establishing Best Practice for Forensic DNA Databases"
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2018 (English)In: Forensic Science International: Genetics, ISSN 1872-4973, E-ISSN 1878-0326, Vol. 36, p. E19-E21Article in journal, Letter (Other academic) Published
Place, publisher, year, edition, pages
ELSEVIER IRELAND LTD, 2018
National Category
Forensic Science Medical Genetics
Identifiers
urn:nbn:se:uu:diva-364728 (URN)10.1016/j.fsigen.2018.07.002 (DOI)000443202100006 ()30030012 (PubMedID)
Funder
EU, Horizon 2020
Available from: 2018-11-05 Created: 2018-11-05 Last updated: 2018-11-05Bibliographically approved
Vears, D. F., Niemiec, E., Howard, H. C. & Borry, P. (2018). Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms. European Journal of Human Genetics, 26(12), 1743-1751
Open this publication in new window or tab >>Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms
2018 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 26, no 12, p. 1743-1751Article in journal (Refereed) Published
Abstract [en]

There are several key unsolved issues relating to the clinical use of next generation sequencing, such as: should laboratories report variants of uncertain significance (VUS) to clinicians and/or patients ? Should they reinterpret VUS in response to growing knowledge in the field ? And should patients be recontacted regarding such results ? We systematically analyzed 58 consent forms in English used in the diagnostic context to investigate their policies for (a) reporting VUS, (b) reinterpreting variants, including who should initiate this, and (c) recontacting patients and the mechanisms for undertaking any recontact. One-third (20/58) of the forms did not mention VUS in any way. Of the 38 forms that mentioned VUS, only half provided some description of what a VUS is. Approximately one-third of forms explicitly stated that reinterpretation of variants for clinical purposes may occur. Less than half mentioned recontact for clinical purposes, with variation as to whether laboratories, patients, or clinicians should initiate this. We suggest that the variability in variant reporting, reinterpretation, and recontact policies and practices revealed by our analysis may lead to diffused responsibility, which could result in missed opportunities for patients or family members to receive a diagnosis in response to updated variant classifications. Finally, we provide some suggestions for ethically appropriate inclusion of policies for reporting VUS, reinterpretation, and recontact on consent forms.

Place, publisher, year, edition, pages
NATURE PUBLISHING GROUP, 2018
National Category
Medical Genetics
Identifiers
urn:nbn:se:uu:diva-371125 (URN)10.1038/s41431-018-0239-7 (DOI)000450614800004 ()30143804 (PubMedID)
Projects
SIENNA project - Stakeholder-informed ethics for new technologies with high socio-economic and human rights impact
Funder
EU, Horizon 2020, 741716
Available from: 2018-12-20 Created: 2018-12-20 Last updated: 2019-06-10Bibliographically approved
Hansson, M. G., Bouder, F. & Howard, H. C. (2018). Genetics and risk - an exploration of conceptual approaches to genetic risk. Journal of Risk Research, 21(2), 101-108
Open this publication in new window or tab >>Genetics and risk - an exploration of conceptual approaches to genetic risk
2018 (English)In: Journal of Risk Research, ISSN 1366-9877, E-ISSN 1466-4461, Vol. 21, no 2, p. 101-108Article in journal, Editorial material (Other academic) Published
National Category
Social Sciences Medical Ethics Public Health, Global Health, Social Medicine and Epidemiology
Identifiers
urn:nbn:se:uu:diva-347113 (URN)10.1080/13669877.2017.1382562 (DOI)000419609100001 ()
Funder
Riksbankens Jubileumsfond, M13-0260:1
Available from: 2018-03-26 Created: 2018-03-26 Last updated: 2018-03-26Bibliographically approved
Vears, D. F., Niemiec, E., Howard, H. C. & Borry, P. (2018). How do consent forms for diagnostic high-throughput sequencing address unsolicited and secondary findings?: A content analysis. Clinical Genetics, 94(3-4), 321-329
Open this publication in new window or tab >>How do consent forms for diagnostic high-throughput sequencing address unsolicited and secondary findings?: A content analysis
2018 (English)In: Clinical Genetics, ISSN 0009-9163, E-ISSN 1399-0004, Vol. 94, no 3-4, p. 321-329Article in journal (Refereed) Published
Abstract [en]

Whole exome and whole genome sequencing are increasingly being offered to patients in the clinical setting. Yet, the question of whether, and to what extent, unsolicited findings (UF) and/or secondary findings (SF) should be returned to patients remains open and little is known about how diagnostic consent forms address this issue. We systematically identified consent forms for diagnostic genomic sequencing online and used inductive content analysis to determine if and how they discuss reporting of UF and SF, and whether patients are given options regarding the return of these results. Fifty-four forms representing 38 laboratories/clinics were analyzed. A quarter of the forms did not mention UF or SF. Forms used a variety of terms to discuss UF and SF, sometimes using these interchangeably or incorrectly. Reporting policies for UF varied: 5 forms stated that UF will not be returned, 15 indicated UF may be returned, and 28 did not specify their policy. One-third indicated their laboratory returns SF. Addressing inconsistent terminology and providing sufficient information about UF/SF in consent forms will increase patient understanding and help ensure adequate informed consent.

Place, publisher, year, edition, pages
WILEY, 2018
Keywords
bioethics, genomics, incidental findings, inductive content analysis, informed consent
National Category
Medical Ethics
Identifiers
urn:nbn:se:uu:diva-365288 (URN)10.1111/cge.13391 (DOI)000444076300005 ()29888485 (PubMedID)
Projects
SIENNA project - Stakeholder-informed ethics for new technologies with high socio-economic and human rights impact
Funder
Riksbankens Jubileumsfond, M13-0260:1EU, Horizon 2020, 741716
Available from: 2018-11-14 Created: 2018-11-14 Last updated: 2019-06-10Bibliographically approved
Howard, H. C., Mascalzoni, D., Mabile, L., Houeland, G., Rial-Sebbag, E. & Cambon-Thomsen, A. (2018). How to responsibly acknowledge research work in the era of big data and biobanks: ethical aspects of the Bioresource Research Impact Factor (BRIF).. Journal of Community Genetics, 9(2), 169-176
Open this publication in new window or tab >>How to responsibly acknowledge research work in the era of big data and biobanks: ethical aspects of the Bioresource Research Impact Factor (BRIF).
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2018 (English)In: Journal of Community Genetics, ISSN 1868-310X, E-ISSN 1868-6001, Vol. 9, no 2, p. 169-176Article in journal (Refereed) Published
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.

Keywords
BRIF, Biobank, Bioresource Research Impact Factor, Bioresource sharing, Ethics, Recognition
National Category
Medical Ethics
Research subject
Bioethics
Identifiers
urn:nbn:se:uu:diva-333169 (URN)10.1007/s12687-017-0332-6 (DOI)000427515200006 ()28948532 (PubMedID)
Funder
EU, FP7, Seventh Framework Programme, 305444
Available from: 2018-02-28 Created: 2018-02-28 Last updated: 2018-05-30Bibliographically approved
Organisations
Identifiers
ORCID iD: ORCID iD iconorcid.org/0000-0001-6149-5498

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