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The challenges of the expanded availability of genomic information: an agenda-setting paper.
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2018 (English)In: Journal of Community Genetics, ISSN 1868-310X, E-ISSN 1868-6001, Vol. 9, no 2, p. 103-116Article in journal (Refereed) Published
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.

Place, publisher, year, edition, pages
2018. Vol. 9, no 2, p. 103-116
Keywords [en]
Clinical and research genomic data, Data sharing, Direct-to-consumer genetic testing, Genomics, Informed consent, Return of results
National Category
Public Health, Global Health, Social Medicine and Epidemiology
Identifiers
URN: urn:nbn:se:uu:diva-343406DOI: 10.1007/s12687-017-0331-7ISI: 000427515200001PubMedID: 28952070OAI: oai:DiVA.org:uu-343406DiVA, id: diva2:1186011
Funder
Riksbankens Jubileumsfond, M13-0260:1Available from: 2018-02-27 Created: 2018-02-27 Last updated: 2018-05-29Bibliographically approved

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Howard, Heidi CarmenMascalzoni, Deborah

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