A 'joint venture' model of recontacting in clinical genomics: challenges for responsible implementation

European Journal of Medical Genetics
Sandi DheensaAnneke M Lucassen

Abstract

Advances in genomics often lead healthcare professionals (HCPs) to learn new information, e.g., about reinterpreted variants that could have clinical significance for patients seen previously. A question arises of whether HCPs should recontact these former patients. We present some findings interrogating the views of patients (or parents of patients) with a rare or undiagnosed condition about how such recontacting might be organised ethically and practically. Forty-one interviews were analysed thematically. Participants suggested a 'joint venture' model in which efforts to recontact are shared with HCPs. Some proposed an ICT-approach involving an electronic health record that automatically alerts them to potentially relevant updates. The need for rigorous privacy controls and transparency about who could access their data was emphasised. Importantly, these findings highlight that the lack of clarity about recontacting is a symptom of a wider problem: the lack of necessary infrastructure to pool genomic data responsibly, to aggregate it with other health data, and to enable patients/parents to receive updates. We hope that our findings will instigate a debate about the way responsibilities for recontacting under any joint ventur...Continue Reading

Citations

Feb 15, 2018·European Journal of Human Genetics : EJHG·Michael P MackleyElizabeth Ormondroyd
Aug 26, 2018·European Journal of Human Genetics : EJHG·Danya F VearsPascal Borry
Sep 26, 2019·Journal of Genetic Counseling·Lindsey SawyerJohn Quillin
Jun 28, 2018·Journal of Community Genetics·Angus J Clarke, Carina Wallgren-Pettersson
Sep 15, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Chloe MightonYvonne Bombard
Aug 3, 2017·European Journal of Human Genetics : EJHG·Daniele CarrieriSusan E Kelly
Oct 13, 2018·European Journal of Human Genetics : EJHG·Daniele CarrieriUNKNOWN European Society of Human Genetics
Oct 6, 2021·Journal of Community Genetics·Alma Levin FridmanShiri Shkedi-Rafid

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