Promising Precision Medicine for the Population: Case Studies in Bringing Genomic Technologies Into Healthcare

• In Event: Innovation, Biocapital and the Making of Post-Genomic Medicine - I

Abstract

Developments in genomic technologies, particularly relatively inexpensive sequencing techniques, make population screening for genetic risk of disease far more feasible today. Healthcare providers, insurers, healthcare systems, and others increasingly encourage patients to undergo testing to determine genetic risk for a number of conditions, mostly related to cancer and cardiovascular disease. Providers are optimistic that this genetic information can be used to improve population health, and promissory claims abound. How such innovations should be implemented and which projects should be prioritized is far from clear. In this presentation, I use data from ethnographic engagement and in-depth interviewing to illustrate how stakeholders trying to optimize the potential of precision medicine understand their projects and contend with challenges or barriers those projects elicit. What can and should precision medicine do? What kinds of ethical, legal, and social implications arise as these new technologies and infrastructures for testing take shape? To examine how my interlocutors think about these questions, I offer observations from interviews with 26 genomic medicine professionals and my participation as a researcher in two “return of results” studies asking about patient experience. The first concerns risk for potentially serious health conditions, while the second concerns positive test results for genetic variants associated with developmental brain disorders. I find that genomic medicine professionals believe strongly that these programs ultimately improve population health, however, they also have a number of practical and ethical concerns worth examining. I also offer a critical lens onto these practices, further explicating their broad social implications.

Author

• Kasia Tolwinski, McGill University