Personalized Genomic Results: Analysis of Informational Needs
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Use of genomic information in healthcare is increasing; however data on the needs of consumers of genomic information is limited. The Coriell Personalized Medicine Collaborative (CPMC) is a longitudinal study investigating the utility of personalized medicine. Participants receive results reflecting risk of common complex conditions and drug—gene pairs deemed actionable by an external review board. To explore the needs of individuals receiving genomic information we reviewed all genetic counseling sessions with CPMC participants. A retrospective qualitative review of notes from 157 genetic counseling inquiries was conducted. Notes were coded for salient themes. Five primary themes; “understanding risk”, “basic genetics”, “complex disease genetics”, “what do I do now?” and “other” were identified. Further review revealed that participants had difficulty with basic genetic concepts, confused relative and absolute risks, and attributed too high a risk burden to individual single nucleotide polymorphisms (SNPs). Despite these hurdles, counseled participants recognized that behavior changes could potentially mitigate risk and there were few comments alluding to an overly deterministic or fatalistic interpretation of results. Participants appeared to recognize the multifactorial nature of the diseases for which results were provided; however education to understand the complexities of genomic risk information was often needed.
KeywordsGenomic results Genetic counseling Patient needs Personalized medicine Complex disease
The CPMC would not be possible without the efforts of a team of scientists and staff including: Neda Gharani, Margaret Keller, Catherine Stack, Joseph Jarvis, Daniel Lynch, Norman Gerry, Courtney Kronenthal, Susan Delaney, Mark Bellafante, Leo Lnu, and Corey Zuares. We are extremely grateful for the participants of the Coriell Personalized Medicine Collaborative for their continued participation in the study. We owe many thanks to the staff of the Coriell Genotyping and Microarray Center and of the Coriell Information Systems Department for their significant and ongoing work on the study. We acknowledge the physicians of Cooper University Hospital (NJ, USA) and Virtua Health System (NJ, USA) for their assistance in reviewing educational web pages and surveys on health conditions included in the study and we thank Christa Sherburne-Law for her work on the survey of participants who did not seek genetic counseling (unpublished data). Finally, we acknowledge the members of the Informed Cohort Oversight Board (David Pellman [current Chair], Erin O’Shea [past chair], Jennifer Hoheisel, Marc Lenburg, Steve Murphy, Kenneth Offit, Robert Green, Michael Grinkemeyer, Charles Rotimi, Reverend Floyd White and Ellis Neufeld), for their advice and suggestions concerning the project. This research was supported by grants from the William G. Rohrer Foundation, the RNR Foundation, and a generous grant from the endowment of the Coriell Institute for Medical Research.
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all participants for being included in the study.
Conflict of Interest
Tara J. Schmidlen declares that she has no conflict of interest. Lisa Wawak declares that she has no conflict of interest. Rachel Kasper declares that she has no conflict of interest. J. Felipe García-España declares that he has no conflict of interest. Michael F. Christman declares that he has no conflict of interest. Erynn S. Gordon declares that she has no conflict of interest.
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