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The rise of genetic testing offers a chance to improve clinical quality and service—and control costs

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Duration: 3 min. read

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Pathology & Laboratory Medicine

Excited by the possibilities of genetic testing? So are we. Considering these statistics, the role it plays in healthcare could be huge:

  • Medicare payments for genetic testing quadrupled in just 3 years.1
  • 2022 is an inflection point in the development of diagnostics and treatments for rare genetic diseases.2
  • Over 75,000 genetic tests exist on the market, magnifying a host of issues with regulation, prior authorization, and health equity.3

These 3 findings help explain the explosive growth of genetic testing—there are about 10 new tests appearing daily.4 There are concerns, however. In recent conversations with health system administrators, lab directors, geneticists, and genetic counselors, we were not surprised to find them enthusiastic about the potential for improved quality of care, yet also focused on cost and complexity. That’s because, as with many things, success depends on the details. So, here are 3 recommendations to consider for building a complete genetics solution in your health system.

1. Choose one partner to help deliver quality care and control costs

While you could assemble a variety of labs to complete your genetic testing menu, the potential for inconsistent results, confusion about who to ask for help interpreting results, wasted time managing multiple relationships, and spiraling costs are real. And likely. A smarter approach is to partner with a single lab capable of handling most—or all—of your needs now and in the future. That’s because a top-tier lab will be able to standardize quality and simplify ordering, reviewing, and billing for diagnostics with one optimized process. Makes sense, right? But not all labs will meet the challenge. Look for a lab with a broad and deep genetic test menu covering all areas of genetics, genomic centers of excellence around the country, and expert support for your clinicians. Because genomic medicine is still in flux, the ability for your physicians to speak with genetic specialists about test selection and results interpretation, VUS reclassification and verification, and clinical policy and clinical claims reviews will be invaluable.

2. Prioritize shared innovation and expertise to advance your state of care

When health conditions have a genetic component, it’s not enough to send samples to a lab and get results back. With over 7,000 rare diseases, many of which are genetic in origin,5 there simply may not be an answer. Or perhaps a standard of care does not yet exist, even though the condition has been identified. Having a laboratory partner with broad and deep genetic expertise can help you determine the way forward. Find a lab with genetics experts who collaborate with leading academic research institutions, publish extensively, and participate and provide leadership in professional medical societies like the National Society of Genetic Counselors (NSGC) or the American Society of Human Genetics (ASHG).

3. Insist on affordability to ensure equitable access

Quality healthcare shouldn’t depend on a patient’s zip code or income. Genetic testing is already skewed toward those of European descent,6 so it’s important to work with a lab that is increasing testing accessibility and broadening payer access. You’ll be able to recognize them because they’re in-network with all the leading healthcare payers and have a patient assistance program to make clinical lab services available to uninsured or underinsured patients.

With the right approach, genetics testing could be a meaningful step in controlling costs

While many agree on the power of genetic testing, there is no shared framework yet for how tests should be regulated, administered, or paid for. Until the use of genetics is standardized—and equitable access assured—it’s best to adopt a sensible, streamlined approach that maximizes efficiencies and outcomes while minimizing confusion and cost.

At Quest Diagnostics, we’re enthusiastic about the power of genetic diagnostics—and committed to helping make the transition to genetic and genomic medicine as smooth as possible. Together, we can increase your health system’s clinical quality, affordability, and impact by building a state-of-the-art program. Visit QuestDiagnostics.com/Genetic-Testing to learn how.

Page Published: December 06, 2022

Trends in genetic tests provided under medicare part B indicate areas of possible concern. US Department of Health & Human Services Office of Inspector General. Published December 2021. Accessed August 2022. https://oig.hhs.gov/oas/reports/region9/92003027.pdf

Kingsmore SF. 2022: a pivotal year for diagnosis and treatment of rare genetic diseases. Cold Spring Harb Mol Case Stud. 2022. Mar 2022;8(2):a006204. doi: 10.1101/mcs.a006204

Driving the future of precision medicine. American Medical Association, ama-assn.org. Published October 5 2022. Accessed November 16, 2022. https://www.ama-assn.org/delivering-care/precision-medicine/driving-future-precision-medicine

4 Phillips KA, Deverka PA, Hooker GW, Douglas MP. Genetic Test Availability And Spending: Where Are We Now? Where Are We Going? Health Aff (Millwood). 2018 May;37(5):710-716. doi: 10.1377/hlthaff.2017.1427

5 Rare disease day: frequently asked questions. American Medical Association website. Accessed June 30, 2022. Rarediseases.org/wp-content/uploads/2019/01/RDD-FAQ-2019.pdf

Burke W. Utility and Diversity: Challenges for Genomic Medicine. Annual Review of Genomics and Human Genetics, Vol. 22:1-24, August 2021