ELSIcon2022 Paper: Translating Genomic Science: How Genetic Counselors Navigate Ethical and Professional Dilemmas in the 21st Century

ELSIcon2022 • Paper • June 2, 2022

Susan Markens

With the acceleration of new genetic discoveries and testing techniques in the first decades of the twenty-first century, genomic technologies present novel professional and ethical dilemmas for contemporary health care workers. This paper focuses an analytic lens on a specific “expert/user” and key translator of new genomic technologies – masters’ trained and board-certified genetic counselors – in the context of recent advances, expansions, and commercialization in genomic science. Drawing on over 60 in-depth qualitative interviews with masters’-trained genetic counselors and related health professionals, I ask: 1) how is the genetic counseling profession confronting who should do genetic counseling and what priorities genetic counselors should emphasize?; 2) how do genetic counselors manage conflicts-of-interest and professional norms in an era where genetic counselors are increasingly employed by biotechnology companies, or are in positions that blur the lines between research and the clinic?; and, 3) what are counselors’ views on, and responses to, inequities in genomic medicine and population health disparities? By analyzing what genetic counselors themselves consider the nuances, challenges, bioethical dilemmas, and goals of their evolving professional responsibilities to be, this study interrogates the tensions these specific genetic professionals encounter in their work as a pivotal player in the ethical and equitable translation of genomic science.