From Dissecting Cadavers to Dissecting Genomes

OTHER AUTHORS:

Fabio A. Salamanca-Gomez

National Director for Research

Instituto Mexicano del Seguro Social

Mexico

Eric Topol's intriguing and imaginative proposal to have medical students dissect and annotate their own genomes follows the ancient injunction to know oneself. Regrettably, this initiative surprisingly ignores well-known ethical and legal issues, particularly those concerned with privacy and confidentiality.

Whole genome sequencing (WGS) would require very strict controls on the flow and management of the information derived from the results which, given the goal of the process, would not be anonymized. Having an experienced team of geneticists, social workers, and even psychologists available would be essential to provide adequate counseling to the students about incidental and unexpected findings related to any diseases, especially inherited disorders. Providing genomic information to young, inexperienced individuals who are just starting their medical careers may cause considerable confusion and unnecessary anxiety. Knowledge about the correlation between several kinds of polymorphisms and specific diseases is still very limited. Understanding about the nature and magnitude of the complex dynamic network of gene-environment interactions is, at best, elementary. How would these self-sequencing students, their families, and the medical school faculty and administrators handle the turmoil generated by findings that may or may not indicate hypothetical risks of suffering from a late-onset disease such as Huntington's? How would the very real possibility of stigmatization, even by other medical professionals, be addressed?

Several challenges would remain even if students were to decline sequencing their own genomes and instead study those of anonymous individuals from a repository similar to a sperm bank. It has been shown that it is possible to discover the identities of people who participate in genetic research studies by cross-referencing their data with publicly available information [Gymrek M et al. (2013). Science 339:321-4.]

Topol's provocative analogy between dissecting cadavers and analyzing genomes suffers from a fatal (pun intended) flaw: in contrast with the definitive inertness of death, medical students have their life before them. While they may benefit from the fortuitous detection of disease- related genomic alterations, it is worth noting that no effective treatment currently exists for a considerable number of such conditions. These circumstances could motivate some students to pursue research on particular illnesses, but chances are most would feel powerless against potentially devastating disorders. In such cases any pedagogical rewards would be highly questionable.

Topol's proposal can only be implemented under stringent regulations towards the end of the clinical cycles, when all relevant medical and E3LS issues can be adequately handled.