The Public Health Approach to Genetic Testing in the 21st Century: Saving Lives and Saving Unnecessary Healthcare Costs

Posted on by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention

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In March 2012, a prominent health insurer in the United States released a white paper entitled: “Personalized Medicine: trends and prospects for the new science of genetic testing and molecular diagnostics” By analyzing their own claims data, the report suggests that in 2010, the cost of genetic and molecular diagnostic testing for its members was about $500 million; nearly 40 percent was for molecular testing for infectious diseases, 16 percent for cancer, and the rest for a variety of conditions including inherited disorders.  The report estimates that spending on molecular and genetic tests increased by about 14 percent a year between 2008 and 2010, reaching an estimated $5 billion in 2010. Based on different growth scenarios, the report estimates that U.S. spending for genetic testing could reach between $15 billion and $25 billion by 2021. While three-quarters of doctors surveyed in the report believe that genetic testing allows for more personalized therapy, 56 percent think that new genetic tests will increase health care costs, compared with 19 percent who think genetic testing will reduce health care costs. “We are now in the era of truly personalized care,” said Reed Tuckson, chief of medical affairs at UnitedHealth Group. “However, this also poses significant challenges to a system that is increasingly unaffordable.”  

The findings in this report have enormous public health implications. Undoubtedly, genomic and molecular technologies will eventually provide useful tools for the diagnosis and management of various diseases, screening and early detection, as well as risk assessment, health promotion and prevention. If anything, scientists have predicted that genetic testing can lead to more personalized or precision medicine that could save healthcare costs by delivering the right intervention to the right person at the right time.

How can we ensure that genetic testing saves lives and saves unnecessary healthcare costs at the same time? As we recently outlined in the American Journal of Public Health, fulfilling the promise of genomics in improving health requires a public health perspective. Population research is urgently needed to 1) assess the contribution of genomics and other new markers to health and disease in the larger social and environmental context (2) evaluate promising genomic technologies for their potential to improve health and healthcare; (3) design appropriate strategies for integrating genomics into clinical and public health practice and ensuring access; and (4) continuously measure population health impact of these new technologies. We know all too well that life-saving interventions can be “lost in translation” and do not always reach all people who need them. On the other hand, “premature translation” of unvalidated technologies may fail to improve health outcomes, while increasing unnecessary healthcare costs.

These actions are consistent with the essential mission of the “public health system” in the US, namely to ensure conditions by which people can be healthy. This involves collaboration between private and public sectors of society. Three essential public health functions can be applied to genomic medicine: policy development, assurance and assessment.

  1. Policy development:  public health serves as a convener and honest broker, advising providers, the public, and policy makers on the potential net health impact of a particular health technology including genetic testing.
  2. Assurance involves implementing appropriate programs (such as newborn screening), laws, and regulations, assuring access, and strengthening providers’ genomic competencies and the general public’s health literacy.
  3. Assessment applies public health sciences to monitor and evaluate effectiveness, quality and outcomes of deployment of genomic technologies in populations.

In summary, a public health approach to genomic medicine is essential if the new technology is to be used in a way that saves lives and saves healthcare costs at the same time. We agree with the conclusion of the report: “In short, we can do more to realize the full potential of these new scientific discoveries, and improve the health of the population. It is time to do so.”

We appreciate input from our readers on this post.

Posted on by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and PreventionTags , , , ,

4 comments on “The Public Health Approach to Genetic Testing in the 21st Century: Saving Lives and Saving Unnecessary Healthcare Costs”

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    As utilization of genetic testing increases and health providers become better connected through reliable EHR systems, our ability to cull genetic data and apply it clinically should grow exponentially.

    …Investing in population research and translation now would be expected to yield improved quality of care and cost-saving returns in the long term…

    I agree with Dr. Khoury on the population research that is needed in this area. The salient question is the funding source for such research. Does the CDC have or envision having resources for this research? Does the NIH or AHRQ? Or will industry support the proper evaluation of the new tools they develop?

    We would love to see genetic advocacy organizations included in the stakeholder meetings in order to provide a voice for the affected and their families, especially those who are working very hard to bring awareness and who are bringing this to the forefront, after decades of stagnant activity, and using their own financial resources in order to protect families and save lives.

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Page last reviewed: April 8, 2024
Page last updated: April 8, 2024