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Can Genomics Deliver on the Promise of Improved Outcomes and Reduced Costs?

Background and Recommendations for Health Insurers

  • Current Opinion
  • Published:
Disease Management & Health Outcomes

Abstract

The increased availability of genetic information has the potential to dramatically change the practice of medicine. Health insurers, in their role of evaluating medical appropriateness while controlling costs, are struggling with the incorporation of the genetic paradigm into clinical practice. Tremendous progress has been made in the understanding of genetic causes of single gene disorders. This has led to more sophisticated diagnostic approaches but, with few exceptions, has not led to innovative therapies. Tremendous sums of money are being spent in the emerging field of pharmacogenomics, but little return on this investment has been seen to this point. The ‘Holy Grail’ of the new genetics is to understand the genetic factors that predispose to common disease that will eventually lead to individualized preventive care, rather than prevention based on population tendencies. There are enormous obstacles to overcome if this goal is to be realized, including identification of genetic variation, quantification of variant effect, environmental interactions, and development of interventions based on variation and cost analysis to ensure that this type of approach is feasible within the current economic environment. It must also be recognized that genomics may not be the answer to any of the above questions, given that each of the approximately 30 000 genes in the genome produces, on average, 3.7 proteins. The new field of proteomics may supplant genomics as the guide to accomplishing the goals above.

Insurers do not have the luxury to wait for the outcome of this debate. They must act now to analyze the new genetic technologies, and incorporate those that demonstrate value. This will necessitate involving geneticists in technology assessment and utilization decisions, as well as adding these specialists to the provider network. In addition, they will need to partner with educators and researchers to ensure that the next generation of providers is genetically competent, as well as to help establish the evidence base for interventions developed from genetic insight.

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Acknowledgements

The author received no outside funding for the preparation of this manuscript. He has no specific conflicts of interest. He currently chairs the Committee on the Economics of Genetic Services of the American College of Medical Genetics based in Bethesda, Maryland, USA.

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Williams, M.S. Can Genomics Deliver on the Promise of Improved Outcomes and Reduced Costs?. Dis-Manage-Health-Outcomes 11, 277–290 (2003). https://doi.org/10.2165/00115677-200311050-00001

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