Equitable and Informed Consent in Genetic Studies

Equitable and Informed Consent in Genetic Studies
Editor’s Note
Ann Marie Navar, Sadiya S. Khan
JAMA Cardiology, 16 November 2022
Excerpt
…Importantly, these participants comprised an already highly selected population in whom higher levels of both genetic knowledge and researcher trust would be expected. Participants were recruited largely from tertiary care academic centers, were cared for by a heart failure program, and had consented to undergo whole-exome sequencing. Despite this, several knowledge gaps were identified. For example, 1 in 5 patients believed that once a genetic variant is found, disease can always be prevented or cured. Genetic knowledge was also lower in Hispanic participants and non-Hispanic Black participants compared with non-Hispanic White participants. Reasons for this are unknown, likely multifactorial, and may include differences in exposure to prior education about genetics, disparities in prior referrals for genetic counseling, and differences in the effectiveness of the informed consent process in addressing gaps in knowledge about genetic testing…