A study investigating the social and ethical implications of recall-by-genotype (RbG) studies, which recruit participants previously involved in genetic research based on their genotypes, is presented in the European Journal of Human Genetics this week, offering insights that may help in the creation of participant-centered RbG policies. RbGs are becoming increasingly popular due to the growing availability of genotyping data from new sequencing technologies but face legal and ethical hurdles since they risk disclosing potentially unwanted or distressing genetic information to participants. Aiming to improve RbG study practices and policies, a team led by scientists from Italy's Eurac Research queried around 50 people taking part in an RbG study on the penetrance of Parkinson's disease variants, seeking feedback on their experiences. In the study, the disease under investigation was disclosed but the individual variant carrier status was not. They find that while the nondisclosure of carrier status in an RbG study was acceptable, the disclosure of a disease under investigation was important to participants. Still, participant preferences for the disclosure of such information varied according to how the knowledge of individual carrier status was perceived to impact participants lives. "A suitable communication strategy and granular options addressing preferences for invitation in the original informed consent are critical for an ethically informed RbG policy," the authors say.
Participants' Perspectives on Recall-by-Genotype Studies Gauged
Jan 06, 2023