In the American Journal of Medical Genetics this week, the University of Washington's Holly Tabor and colleagues discuss how they say "exome and whole-genome sequencing challenge the ethical framework of human genetics research," provide "broad guidance about interim ways to contend with these issues, and make broad recommendations for areas for novel resource and policy development." Among the ethical challenges the authors discuss, Tabor et al. say that exome and whole-genome sequencing raise unique issues regarding informed consent. These include:
▪ whether the aims of ES/WGS research are different from more conventional genetic research
▪ if the risks and beneﬁts of ES/WGS are unique and therefore require explanation in order for participants to make informed decisions about participation
▪ whether participants should be told speciﬁcally about ES/WGS during informed consent in order to maintain transparency and trust in the research enterprise
Tabor and her colleagues say that because "the last few years have witnessed a shift toward increased sharing of human genetic and phenotypic data as a means to facilitate and accelerate genomics research," use of exome and whole-genome sequencing in human research poses data-sharing challenges. Compared with genome-wide association studies, the authors say it'd be ostensibly simpler to identify research participants involved in studies in which "individuals, families, and populations will be sequenced to discover genes for both rare monogenic disorders and common, complex diseases." This, they add, necessitates that researchers "assess the speciﬁc risk of identifying study participants from ES/WGS data," especially when data found might be stigmatizing.
Finally, Tabor and her colleagues discuss the challenges of returning exome and whole-genome sequencing results to research participants, a problem that they say is compounded since "the details of how 'clinically utility' and 'actionable' are deﬁned, and by whom, remain under dispute."
HT: Daniel Swan (@d_swan)