Forward-Thinking Insurers Adopt Genomics, Medicare Makes Perilous, Costly Leap Backward

The field of genetic testing and genomics has exploded. Safe, high-quality prenatal tests that screen for chromosome abnormalities are now available through a simple blood draw via noninvasive prenatal screening. Ideally, prior to pregnancy, both men and women are candidates for carrier screening to determine if they carry mutations that would increase their risk of having a child with a recessive genetic condition. Germline genetic testing has expanded from rare diseases to high- and moderate-risk gene panels for more common conditions, including cancer and cardiac disease. Genetic testing on tumor tissue (somatic testing) is available for many cancers and can help guide treatment decisions based on which therapy will most likely lead to a response. Every day, more data are available to support the utility of genetic testing to offer smart, efficient, cost-effective patient care.

Several progressive insurance companies are recognizing the power of genetic testing to help their members achieve better health. One example can be seen in the arena of direct-to-consumer (DTC) genetic testing. More than 26 million consumers have chosen to undergo and pay for DTC testing via at-home spit kits from companies ike 23andMe and Ancestry.¹ Some of these companies release genetic health information back to the consumer, and many can provide raw data files that the consumer can download and have interpreted by third-party literature retrieval services, like Promethease. None of these types of DTC tests are medical grade; therefore, they must be repeated on a new DNA sample in a clinical laboratory for verification before they can be used in medical care.^2,3

Blue Shield of California, Anthem, and Aetna now cover verification testing for pathogenic BRCA1 and BRCA2 findings reported out by 23andMe⁴, and it is expected that more insurers will jump on this trend. Why? Because this is a wise business decision and allows insurers to take advantage of genomic data their insured already have in their hands.

These forward-thinking insurers are helping consumers use these data by creating a pathway to integrate their genomics into their care. True, these DTC data are not thorough or medical grade and should not be used to guide medical management, nor should they be used as a first-line test for any patient with a personal and/or family history of a condition that may be hereditary. But if the consumer stumbles across a condition that may affect care, such as hereditary cancer, hemochromatosis, or cardiac disease, it behooves both the consumer and the insurer to verify that finding’s accuracy. Consumer-driven testing is uncovering powerful pieces of data that should not be pushed to the wayside or incorporated into medical care without verification. Instead, these data must be verified in a medical-grade lab. Before selecting the most appropriate validation test, a detailed personal and family history should be explored to determine whether other genetic tests may be appropriate for the consumer and his or her family. As more DTC companies begin to return health information to their consumers, consumer-facing workflows that support third-party, accurate genetic counseling and testing processes for verification will be necessary.⁵ Insurers and corporate wellness programs (eg, Welltok, Sprout, Sharecare) will likely be involved in offering these services.

Amid all of this forward progress, CMS has chosen to maintain a costly and poorly timed stance from the dark ages. CMS is already known for not recognizing certified genetic counselors (CGCs) as healthcare providers. This is an expensive mistake for US patients and taxpayers because it is well known that CGCs are expert at assessing which patients need genetic testing and determining which tests would be most effective and least expensive.⁶ CMS should instead embrace recognizing CGCs as healthcare providers and use CGCs as genetic usage specialists whenever possible.

For decades, CMS has been known for its outdated, poorly written criteria for genetic testing. As an example, CMS refuses coverage for cancer genetic testing for any of its insured until that person develops cancer, depriving that patient of the opportunity to avoid developing cancer or detect it earlier by knowing his or her hereditary cancer genetic status and choosing high-risk surveillance or prophylactic surgery⁷ (Table 1 [part A and part B]).

CMS has chosen to use the narrowest of definitions when evaluating whether a patient has “signs and/or symptoms” of a condition and will not consider family history even when a hereditary cancer syndrome has already been identified in a family.⁸ This costly decision means that a CMS patient who is clearly at risk for a hereditary cancer syndrome may not pursue a genetic test that costs several hundred dollars because it would be a costly out-of-pocket expense and, instead, may develop a cancer that costs the Medicare system hundreds of thousands of dollars in diagnostic testing, surgery, radiation, chemotherapy, hospitalizations, and long-term care. This does not include needless pain and suffering of the patient and the family, missed wages and childcare expenses for the patient and family, and, potentially, death. Men have been unfairly discriminated against under CMS criteria, most often deprived of BRCA testing unless they have already developed breast cancer, pancreatic cancer with Jewish ancestry, or prostate cancer (Gleason score >7)/pancreatic cancer with significant family history. These criteria are more restrictive than those proposed by the National Comprehensive Cancer Network (NCCN), which issues guidelines developed by panels of oncology and genetics experts.⁹

To rub salt in the wound, many stakeholders were concerned that CMS proposed to make their inadequate criteria even worse last year by refusing next-generation sequencing (NGS)—based genetic testing for cancer patients unless they had stage III or IV disease.¹⁰ This decision making would be flawed because it would deprive people with early-stage disease, who would likely survive their cancers, of the chance to learn whether their cancer is hereditary and the opportunity for early detection or prevention of additional cancers associated with that hereditary syndrome. In response to the understandable backlash, the CMS reopened this national coverage determination (NCD) for comment from April 29 to May 29, clarifying that the proposed change was intended to apply in a germline setting only when testing is ordered for the purpose of guiding targeted cancer treatment. Some of this confusion may stem from the fact that guidance regarding germline testing is being derived from an NCD that was initially meant to apply to somatic testing only. A drafted decision is expected at the end of October 2019.¹¹

There was also concern that this decision would negatively affect laboratories because CMS made its November 2018 ruling retroactive to March 2018. Over those 9 months, labs advised on coverage based on existing guidelines, performed NGS tests, and billed Medicare in accordance with existing guidelines and contracts. By implementing a retroactive decision, labs could be forced to pay back Medicare any fees for service collected during that period. Failing to do so could result in large financial penalties and damage the financial stability of labs preforming hereditary cancer testing. Thankfully, CMS has delayed “implementation” of these rules. It would be wise for them to delay them indefinitely. Numerous other contradictions and loopholes have been found throughout the NCD documentation.¹² For example, the NCD blocks NGS-based testing for women with early-stage disease, yet it does not block Sanger or polymerase chain reaction (PCR)—based testing in these patients. Similarly, NGS testing of multiple genes (within a certain category) is directed to be billed under an umbrella code instead of stacked individually. However, this umbrella code doesn’t apply to Sanger or PCR-based testing, creating a loophole for laboratories and the potential to bill for up to 9 genes individually (“stacked”), which is much less cost-efficient. Experts have found multiple other such inconsistencies within the NCD.¹³

What can be done to fix the CMS crisis? First, CMS should hire a CGC with experience in the payer system to serve as a director in genetics. This individual should oversee review and revamping of all testing criteria. Most expert guidelines, including those from NCCN and the US Preventive Services Task Force, stress the importance of family history as part of a comprehensive genetics evaluation, and no expert guidelines consider cancer stage to be an indicator of possible hereditary contribution to disease.^14,15 CMS should also immediately recognize CGCs as healthcare providers. Of note, the Access to Genetic Counselors Services Act of 2019, recently introduced in the Congress, would require that genetic counselors be reimbursed by Medicare for providing counseling services.¹⁶

Genetic counselors and providers must also recognize their role in this process: namely, this is just CMS guidance. We often assume that if CMS denies a claim, secondary insurance will too. However, the secondary insurance does not have to deny it unless the claim is specifically excluded. This means that we should and must appeal. This can be time-consuming and annoying, but it may make a difference, and claims may be approved on the second or third appeal. Why is this important?

Because it affects a plan’s overall star rating. If a plan has many denials successfully overturned, its rating may be lowered, making it harder for the insurer to market itself and recruit new members. CMS plans care about this rating. Appeal your patients’ claims at every level, and allocate resources within your department to streamline this process with template letters. Laboratories that have dedicated reimbursement departments can and must be an active part of this solution, ensuring that appropriate and legal coding/billing practices are used in the claims appeal process. Collect cases that were not covered and should have been, and publish them as Yang et al did last year (Table 2).^17-20 Spread the word about these cases—without protected health information, of course—on social media and tag the insurer.

Genetic counselors and providers can also be part of the solution by being proactive, positive, and collaborative. Genetics is moving too quickly for payers to be up-to-date on best practices. These payers are not in the field seeing patients and often do not see or understand the gaps that their policies create. They are not genetics experts and need relationships with professional societies, such as the National Society of Genetic Counselors, the American Society of Human Genetics, and the American College of Medical Genetics to provide fast and efficient guidance. These societies would be wise to create small internal committees of genetics providers with expertise in payer relations and then reach out to each payer—including CMS—to offer their services in reviewing policies and providing guidance around them. We should offer to speak at payer meetings and develop relationships with decision makers within these plans.

To take advantage of the promise of genomics and precision medicine, insurers and genetics experts must be willing to work together to create policies that are effective, efficient, and fair to all parties involved.Author Information

Disclosures: Authors are stakeholders in My Gene Counsel, LLC, a privately owned company.

Ellen Matloff, MS, CGC, is the founder, president, and chief executive officer of My Gene Counsel, LLC. She is the former director of the Cancer Genetic Counseling program at Yale School of Medicine. The author of more than 50 scientific publications in the field, Matloff is an established educator, lecturer, media spokesperson, and advocate, notably as a plaintiff in the 2013 BRCA gene patent case decided by the Supreme Court of the United States in 2013, Association for Molecular Pathology et al v Myriad Genetics. The decision led to dramatically reduced prices for genetic testing and allowed more patients to gain access to this technology. Matloff founded My Gene Counsel and its digital tools to be used alongside genetic testing to ensure that results are used accurately and effectively.

Danielle Bonadies, MS, CGC, is director of genetics at My Gene Counsel. She is responsible for developing the Living Lab Report content that populates the website’s portal. Previously, Bonadies served as assistant director of the Cancer Genetic Counseling Program at Yale School of Medicine. She practiced as a clinical genetic counselor for more than a decade, designed and operated online patient education and communication websites, and was involved in the cancer genetics education of thousands of patients, clinicians, and students. She has coauthored multiple book chapters and articles, including seminal papers that documented the high rate of misinterpretation of genetic tests by clinicians. Other work addresses the needs of those with hereditary predispositions during the decision-making process.

Meagan Farmer, MS, CGC, MBA, is the genetic counseling business manager of My Gene Counsel. Farmer completed the Yale cancer genetic counseling fellowship in 2010. She is the former director of the Cancer Genetic Counseling Program at The University of Alabama at Birmingham and remains affiliated with the program and its research efforts. She has coauthored a book, book chapters, and articles on genetic counseling and testing. She is on the board of the Norma Livingston Ovarian

Cancer Foundation.References

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2. Tandy-Connor S, Guiltinan J, Krempely K, et al. False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care. Genet Med. 2018;20(12):1515-1521. doi: 10.1038/gim.2018.38.

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4. Ray T. Confirmatory testing, insurance coverage grow alongside DTC genetic testing. GenomeWeb website. genomeweb.com/molecular-diagnostics/confirmatory-testing-insurance-coverage-growing-alongside-dtc-genetic-testing#.XQ0k0i2ZMl4. Published March 22, 2019. Accessed July 9, 2019.

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7. Welcome to the Medicare coverage database. CMS website. cms.gov/medicare-coverage-database/. Accessed July 9, 2019.

8. Medicare Claims Processing Manual Chapter 16 - Laboratory Services. CMS website. cms.gov/Regulations-and-guidance/Guidance/Manuals/Downloads/clm104c16.pdf

9. NCCN Clinical Practice Guidelines in Oncology. Genetic/Familial High-Risk Assessment: Breast and Ovarian, version 3.2019. National Comprehensive Cancer Network. nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf. Published January 18, 2019. Accessed July 9, 2019.

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13. Quinn B. Has Medicare canceled much of germline BRCA testing, including for Ashkenazi populations? New 2019 MolDx LCD. Discoveries

in Health Policy website. discoveriesinhealthpolicy.com/2019/01/hasmedicare-canceled-much-of-germline.html. Published January 2, 2019. Accessed July 9, 2019.

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16. Access to Genetic Counselor Services Act of 2018, HR 7083, 115th Congress, 2nd Sess (2017-2018).

17. Yang S, Axilbund JE, O’Leary E, et al. Underdiagnosis of hereditary breast and ovarian cancer in Medicare patients: genetic testing criteria miss the mark. Ann Surg Oncol. 2018;25(10):2925-2931. doi: 10.1245/s10434-018-6621-4.

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