Artigo em revista científica Q2
The challenges of the expanded availability of genomic information: an agenda setting-paper
Pascal Borry (Borry, P. ); Heidi Beate Bentzen (Bentzen, H. B.); Isabelle Budin-Ljøsne (Budin-Ljøsne, I.); Martina C. Cornel (Cornel, M. C. ); Heidi Carmen Howard (Howard, H.C. ); Oliver Feeney (Feeney, O. ); Leigh Jackson (Jackson, L.); Deborah Mascalzoni (Mascalzoni, D.); Álvaro Mendes (Mendes, A.); Borut Peterlin (Peterlin, B.); Brígida Riso (Riso, B.); Masha Shabani (Shabani, M.); Heather Skirton (Skirton, H. ); Sigrid Sterckx (Sterckx, S.); Danya F. Vears (Vears, D. F.); Matthias Wjst (Wjst, M.); Heike Felzmann (Felzmann, H. ); et al.
Título Revista
Journal of Community Genetics
Ano
2018
Língua
Inglês
País
Alemanha
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Abstract/Resumo
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.
Agradecimentos/Acknowledgements
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Palavras-chave
Genomics,Clinical and research genomic data,Return of results,Data sharing,Informed consent,Direct-to-consumer genetic testing
  • Medicina Clínica - Ciências Médicas e da Saúde
  • Ciências da Saúde - Ciências Médicas e da Saúde
Registos de financiamentos
Referência de financiamento Entidade Financiadora
COST Action IS10303 CHIP ME COST Action
UID/SOC/03126/2013 Fundação para a Ciência e a Tecnologia
SFRH/BPD/88647/2012 Fundação para a Ciência e a Tecnologia
NFR BIOTEK2021/ES495029 The Research Council of Norway
245464 The Research Council of Norway
M13-0260:1 Swedish Foundation for Humanities and Social Science
SFRH/BD/100779/2014 Fundação para a Ciência e a Tecnologia
BIOTEK2021/238999 The Research Council of Norway