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New Report Underlines Inconsistent Use of Genomic Testing in US Even Among States With Favorable Coverage Policies

Understanding Genomic Testing Utilization and Coverage in the US Points to Broader Range of Administrative, Educational, Technical Challenges Complicating Efforts to Integrate Genomic Testing into Clinical Work Streams

WASHINGTON (August 7, 2020)


In partnership with the Blue Cross Blue Shield Association, Concert Genetics, and Illumina, Inc., the Personalized Medicine Coalition (PMC) is pleased to release a new report that compares real-world health insurance claims for genomic testing with applicable coverage policies in the United States. The report shows that while wide variation and a lack of clarity in payer coverage policies may present barriers to the utilization of genomic testing, such testing is inconsistently utilized even among states where favorable coverage policies exist. The findings suggest that a broader range of clinical adoption challenges are complicating efforts to integrate genomic testing into clinical work streams.

Based on the ability of genomic testing to efficiently detect the presence of genetic variants associated with inherited diseases and certain cancers, the report, titled Understanding Genomic Testing Utilization and Coverage in the US, examines applicable commercial coverage policies and de-identified health insurance claims submitted for genomic testing for non-invasive prenatal screening, diagnosis of suspected rare diseases, and genomic profiling of advanced cancers. The findings show that:

  1. Medically appropriate genomic testing is inconsistently utilized across U.S. states;
  2. Payer genomic testing coverage policies vary considerably among states;
  3. Favorable coverage policies do not always correlate with higher utilization rates across states; and
  4. Inconsistent coverage and reimbursement policies remain barriers to genomic testing access, but do not entirely explain inconsistent utilization.

Based on the available literature, the report outlines a broader range of administrative, educational, and technical challenges that are likely discouraging the use of genomic testing in clinical settings.

Quotes about the report from representatives of Concert Genetics, Illumina and the Personalized Medicine Coalition are presented below.

“This report brings greater transparency to a complex and critically important area of health care. In doing so, it is clear that more innovation is needed to deliver the promise of precision medicine to U.S. health care consumers.”

     - Rob Metcalf, CEO, Concert Genetics

“This important study highlights that increased adoption takes more than just favorable coverage policies. Creating awareness through partnership, education and outreach initiatives is an important step to ensuring people understand the power of precision medicine.”

     - Ammar Qadan, Vice President of Global Market Access, Illumina

Understanding Genomic Testing Utilization and Coverage in the US reminds us that we need to address a wide range of clinical adoption issues in order to facilitate more widespread utilization of the tests and treatments underpinning personalized medicine, which benefits patients and health systems by targeting treatments to those who will benefit.”

     - Edward Abrahams, President, Personalized Medicine Coalition


Christopher J. Wells
Phone: 202-580-9780

About the Blue Cross Blue Shield Association:
The Blue Cross and Blue Shield Association is a national federation of 36 independent, community-based and locally operated Blue Cross and Blue Shield companies that collectively provide health care coverage for one in three Americans. BCBSA provides health care insights through The Health of America Report series and the national BCBS Health Index. For more information on BCBSA and its member companies, please visit We also encourage you to connect with us on Facebook, check out our videos on YouTube and follow us on Twitter.

About Concert Genetics:
Concert Genetics is a software and managed services company that promotes health by providing the digital infrastructure for reliable and efficient management of genetic testing and precision medicine. Concert maintains a catalog of the U.S. genetic testing market (currently more than 150,000 tests), monitoring and correlating those tests with medical policies and claims data representing millions of covered lives.

About Illumina:
Illumina is improving human health by unlocking the power of the genome. Our focus on innovation has established us as the global leader in DNA sequencing and array-based technologies, serving customers in the research, clinical and applied markets. Our products are used for applications in the life sciences, oncology, reproductive health, agriculture and other emerging segments. To learn more, visit and follow @illumina.

About the Personalized Medicine Coalition:
The Personalized Medicine Coalition, a 501(c)3 organization comprised of 14 distinct stakeholder groups within health care, promotes the understanding and adoption of personalized medicine concepts, services and products to benefit patients and the health system. For more information, please visit

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