Abstract
Research teams developing biobanks and/or genomic databases must develop policies
for the disclosure and reporting of potentially actionable genomic results to research
participants. Currently, a broad range of approaches to the return of results exist,
with some studies opting for nondisclosure of research results and others following
clinical guidelines for the return of potentially actionable findings from sequencing.
In this review, we describe current practices and highlight decisions a research team
must make when designing a return of results policy, from informed consent to disclosure
practices and clinical validation options. The unique challenges of returning incidental
findings in cardiac genes, including reduced penetrance and the lack of clinical screening
standards for phenotype-negative individuals, are discussed. Finally, the National
Hearts in Rhythm Organisation (HiRO) Registry approach is described to provide a rationale
for the selective return of field-specific variants to those participating in disease-specific
research. Our goal is to provide researchers with a resource when developing a return
of results policy tailored for their research program, based on unique factors related
to study design, research team composition, and availability of clinical resources.
Résumé
Les équipes de recherche qui mettent sur pied des biobanques ou des bases de données
en génomique doivent élaborer des politiques en matière de divulgation et de déclaration
des résultats de tests génomiques potentiellement exploitables aux participants des
études. À l’heure actuelle, il existe un vaste éventail d’approches en matière de
retour des résultats; dans certaines études, les chercheurs optent pour la non-divulgation
des résultats de recherche alors que dans d’autres, ils respectent les lignes directrices
de pratique clinique en matière de retour des résultats de séquençage potentiellement
exploitables. Cet article de synthèse vise à décrire les pratiques en vigueur et à
mettre en évidence les décisions qu’une équipe de recherche doit prendre lors de l’élaboration
d’une politique en matière de retour des résultats, et ce, du consentement éclairé
aux pratiques en matière de divulgation, en passant par les options de validation
clinique. Nous discuterons des défis propres au retour de résultats fortuits relatifs
aux gènes cardiaques, y compris une réduction de la pénétrance et l’absence de normes
en matière de dépistage clinique des personnes dont le phénotype est négatif. Finalement,
l’approche relative au registre de la National Hearts in Rhythm Organisation (HiRO) est décrite pour justifier le retour sélectif des données sur des variants
propres à un domaine à ceux qui participent à des projets de recherche portant une
maladie précise. Notre objectif est de fournir aux chercheurs une ressource adaptée
à leur programme de recherche qui les aidera à élaborer une politique en matière de
retour des résultats, en fonction des facteurs circonstanciels relatifs au plan de
l’étude, à la composition de l’équipe de recherche et à la disponibilité des ressources
cliniques.
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Article info
Publication history
Published online: October 26, 2021
Accepted:
October 21,
2021
Received:
June 10,
2021
Footnotes
See page 534 for disclosure information.
Identification
Copyright
© 2021 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.
