Personalized Genomic Results: Analysis of Informational Needs
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ORIGINAL RESEARCH
Personalized Genomic Results: Analysis of Informational Needs Tara J. Schmidlen & Lisa Wawak & Rachel Kasper & J. Felipe García-España & Michael F. Christman & Erynn S. Gordon
Received: 2 July 2013 / Accepted: 21 January 2014 # National Society of Genetic Counselors, Inc. 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. Keywords Genomic results . Genetic counseling . Patient needs . Personalized medicine . Complex disease T. J. Schmidlen (*) : L. Wawak : R. Kasper : J. F. García-España : M. F. Christman Coriell Institute for Medical Research, 403 Haddon Avenue, Camden, NJ 08103, USA e-mail: [email protected] E. S. Gordon Invitae, San Francisco, CA, USA
Introduction Genomic medicine is expanding rapidly with increasing reports of the use of whole genome, exome or targeted sequencing in clinical care (Dixon-Salazar et al. 2012; Gilissen et al. 2011; Need et al. 2012) the use of next generation sequencing for multi-gene panels (Coonrod et al. 2012), tumor sequencing (Lamlertthon et al. 2011), and the use of pharmacogenomics across a variety of medical specialties (Roberts et al. 2012; Rogers et al. 2012; Walko and McLeod 2009). One burgeoning area of genomics which has attracted the most controversy but has the potential for the widest reach is the area of complex disease genomics. Genome wide association studies (GWAS) have identified thousands of variants associated with hundreds of diseases and traits (Hindorff et al. 2013); however, the clinical validity and utility of such low penetrance genetic variants as predictors of disease has been modest at best (Hirschhorn and Gajdos 2011). Given the small contribu
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