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Borry, P.* ; Bentzen, H.B.* ; Budin-Ljøsne, I.* ; Cornel, M.C.* ; Howard, H.C.* ; Feeney, O.* ; Jackson, L.* ; Mascalzoni, D.* ; Mendes, Á.* ; Peterlin, B.* ; Riso, B.* ; Shabani, M.* ; Skirton, H.* ; Sterckx, S.* ; Vears, D.* ; Wjst, M. ; Felzmann, H.*

The challenges of the expanded availability of genomic information: An agenda-setting paper.

J. Community Genet. 9, 103-116 (2018)

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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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