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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Defining personal utility in genomics: A Delphi study.

J N Kohler1, E Turbitt1, K L Lewis2

  • 1Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes Health, Bethesda, Maryland.

Clinical Genetics
|February 21, 2017
PubMed
Summary
This summary is machine-generated.

Patients value genome sequencing for personal utility beyond clinical use. Key benefits include increased self-knowledge, understanding health conditions, altruism, and coping strategies.

Keywords:
Delphigenetic testinggenomicspersonal outcomespersonal utilityutility

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Area of Science:

  • Genomic Medicine
  • Patient-Reported Outcomes
  • Bioethics

Background:

  • Individual genome sequencing offers benefits beyond direct clinical applications, termed 'personal utility'.
  • Personal utility encompasses patient-endorsed, non-clinical outcomes derived from genomic information.
  • Empirical data defining personal utility outcomes has been lacking.

Purpose of the Study:

  • To empirically delineate the core components of personal utility from patient perspectives.
  • To identify and rank the most highly endorsed non-clinical outcomes of genome sequencing.

Main Methods:

  • A Delphi survey was administered to adult participants in a National Institute of Health (NIH) clinical exome study.
  • Forty participants rated 35 items on personal utility, identified through a systematic literature review.
  • Two rounds of ranking were conducted to achieve consensus on the most significant outcomes.

Main Results:

  • Twenty-four items representing 14 distinct elements of personal utility were identified.
  • The most highly endorsed elements included increased self-knowledge and understanding of health conditions.
  • Altruism and anticipated coping strategies were also significant components of personal utility.

Conclusions:

  • This study provides the first systematic delineation of personal utility elements in genome sequencing.
  • Findings can inform patient expectations and genetic counseling prior to sequencing.
  • Further validation in diverse populations is needed to assess generalizability and refine understanding of motivations.