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01-08-2014 | Original Research

Personalized Genomic Results: Analysis of Informational Needs

Authors: Tara J. Schmidlen, Lisa Wawak, Rachel Kasper, J. Felipe García-España, Michael F. Christman, Erynn S. Gordon

Published in: Journal of Genetic Counseling | Issue 4/2014

Abstract

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.

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Title: Personalized Genomic Results: Analysis of Informational Needs
Authors: Tara J. Schmidlen
Lisa Wawak
Rachel Kasper
J. Felipe García-España
Michael F. Christman
Erynn S. Gordon
Publication date: 01-08-2014
Publisher: Springer US
Published in: Journal of Genetic Counseling / Issue 4/2014
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-014-9693-8

At a glance: The STEP trials

Springer Medicine

Personalized Genomic Results: Analysis of Informational Needs

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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