New Frameworks for Informed Consent in Genomic and Precision Medicine

The emergence of genomic medicine has not been without unique concerns that continue to challenge clinicians working in this arena. Genomic test results have implications for individuals other than the person tested. Related to this, interpretation of genomic data often requires several related individuals; and even then what can be known about the meaning of an individual's specific variants is, and will continue to be, a function of big data analysis of the genomic data of many thousands (or even millions) of individuals. As well, the rapid emergence of the field complicates the meaning of results, as the lack of gene-disease associations are often a reflection of the nascent state of the field, rather than the lack of such associations. These characteristics, along with myriad uncertainties tied to variants of unknown significance or otherwise "non-actionable" or contested results, pose direct problems for translation of results to treatment plans or interventions that are consistent with patient values. This project proposes a scholarly work consisting of a book-length manuscript (200 pages; 100,000 words) that fully develops, and then applies a new model of patient autonomy and informed consent in the context of genomic medicine. Once completed, P.I./author Thomas May has been offered a book contract by a leading publisher in academic medicine (Springer) to publish and disseminate the manuscript in book form. It is the aim of this project to: Provide a conceptually sound model of patient autonomy, which can be easily understood and applied in novel circumstances by genomic clinicians who have no sophisticated training in moral philosophy. Provide concrete examples for the application of the model of informed consent developed to common challenges in genomic medicine (e.g. return of incidental findings; rights to genetic ignorance; testing of children; and potential screening uses of genomic technologies). Critique existing alternative models of autonomy and informed consent, and to situate the model developed here within the broader philosophical and medical ethics literature.