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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Explaining, not just predicting, drives interest in personal genomics.

Susanne F Meisel1, Deanna Alexis Carere2, Jane Wardle1

  • 1Cancer Research UK Health Behaviour Research Centre, Department of Epidemiology and Public Health, University College London, London, UK.

Genome Medicine
|August 14, 2015
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Summary

Customers are highly interested in personal genomic testing (PGT) results for existing conditions, not just future risks. This indicates PGT offers explanatory value beyond prediction for genetic health insights.

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Area of Science:

  • Genomics
  • Medical Genetics
  • Consumer Health

Background:

  • Customer interest in personal genomic testing (PGT) is often assumed to be driven solely by risk prediction.
  • An alternative motivation for PGT is understanding the genetic basis of existing diseases.

Purpose of the Study:

  • To evaluate how a pre-existing medical diagnosis influences customer interest in condition-specific results from PGT.
  • To explore the explanatory value of PGT for individuals with diagnosed health conditions.

Main Methods:

  • A prospective online survey was administered to PGT customers before they received their results.
  • Customer interest in PGT for 11 specific health conditions was measured.
  • Logistic regression analysis examined the association between personal medical history and interest in condition-specific PGT.

Main Results:

  • Data from 1,538 PGT customers (mean age 48.7, 61% female, 90% White) were analyzed.
  • Interest in condition-specific PGT varied widely, from 28% for ulcerative colitis to 68% for heart disease.
  • Having a diagnosis significantly increased interest in genetic testing for that condition (ORs 2.07-19.99), even after adjusting for demographics and family history.

Conclusions:

  • PGT customers show a strong interest in genetic markers related to their current medical diagnoses.
  • The findings suggest PGT provides significant explanatory value for existing conditions, complementing its predictive capabilities.
  • Understanding the genetic etiology of diseases is a key driver for PGT engagement.