Patients' Choices for Return of Exome Sequencing Results to Relatives in the Event of Their Death

Laura M Amendola; Martha Horike-Pyne; Susan B Trinidad; Stephanie M Fullerton; Barbara J Evans; Wylie Burke; Gail P Jarvik

doi:10.1111/jlme.12290

Patients' Choices for Return of Exome Sequencing Results to Relatives in the Event of Their Death

J Law Med Ethics. 2015 Fall;43(3):476-85. doi: 10.1111/jlme.12290.

Authors

Laura M Amendola¹, Martha Horike-Pyne², Susan B Trinidad³, Stephanie M Fullerton⁴, Barbara J Evans⁵, Wylie Burke⁶, Gail P Jarvik⁷

Affiliations

¹ Clinical and research genetic counselor in the University of Washington, Division of Medical Genetics. Ms. Amendola received her M.S. in Genetic Counseling in Houston, Texas at the University of Texas, Graduate School of Biomedical Sciences.
² Research Coordinator in the Division of Medical Genetics at the University of Washington, Seattle. She received her M.P.H. at the University of Massachusetts, Amherst, and is a scientist board member for two Institutional Review Boards (IRBs) in Seattle.
³ Research scientist in the Department of Bioethics and Humanities at the University of Washington. She holds a master's degree from the Interdisciplinary Program in Health and Humanities at Michigan State University.
⁴ Associate Professor of Bioethics and Humanities at the University of Washington and Adjunct Associate Professor of Epidemiology and Genome Sciences. She completed a Ph.D. in Human Population Genetics at the University of Oxford, U.K., and a postdoctoral fellowship in the Ethical, Legal, and Social Implications (ELSI) of genetic research at the Pennsylvania State University.
⁵ Professor of Law and holds the George Butler Research professorship at University of Houston Law Center, where she is the Director of the Center for Biotechnology & Law. She earned her Ph.D. at Stanford University and J.D. at Yale Law School.
⁶ Professor of Bioethics and Humanities at the University of Washington and Adjunct Professor of Medicine (Medical Genetics). She completed a Ph.D. in Genetics and an M.D. at the University of Washington where she also trained in Internal Medicine.
⁷ Head of the Division of Medical Genetics and holds the Arno G. Motulsky Chair of Medicine at the University of Washington, Seattle, where she is a Professor of Medicine (Medical Genetics) and Genome Sciences. She received her Ph.D. in Human Genetics at the University of Michigan and her M.D. at the University of Iowa in the Medical Scientists Training Program. She completed her residency in Internal Medicine at the Hospital of the University of Pennsylvania and her fellowship in Medical Genetics at the University of Washington.

Abstract

The informed consent process for genetic testing does not commonly address preferences regarding disclosure of results in the event of the patient's death. Adults being tested for familial colorectal cancer were asked whether they want their exome sequencing results disclosed to another person in the event of their death prior to receiving the results. Of 78 participants, 92% designated an individual and 8% declined to. Further research will help refine practices for informed consent.

Publication types

Research Support, N.I.H., Extramural

MeSH terms

Adult
Aged
Aged, 80 and over
Colorectal Neoplasms / genetics
Death*
Disclosure / ethics
Disclosure / legislation & jurisprudence*
Disclosure / statistics & numerical data
Exome / genetics*
Female
Genomics*
Humans
Informed Consent*
Male
Middle Aged
Patient Preference / legislation & jurisprudence*
Patient Preference / statistics & numerical data
Sequence Analysis*
Young Adult

Abstract

Publication types

MeSH terms

Grants and funding