Forward-Thinking Insurers Adopt Genomics, Medicare Makes Perilous, Costly Leap Backwards
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 non-invasive prenatal screening (NIPS). Ideally, prior to pregnancy, both men and women are candidates for carrier screening to determine if they each 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 that tumor is most likely to respond. Every day more data are available to support the utility of genetic testing to make smart, efficient, cost-effective patient care.
Several progressive insurance companies are recognizing the power of genetic testing to help their insured achieve better health. One example can be seen in the arena of direct-to-consumer (DTC) genetic testing. More than 26 million consumers have now chosen to undergo and pay for DTC testing via at-home spit kits from companies like 23andMe and Ancestry.com.1
Some of these companies release genetic health information back to the consumer, and many of them can provide raw data files that the consumer can download and have interpreted by third-party literature retrieval services, like Promethease.com. 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 BRCA
1 and BRCA
2 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. -Yes, 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 impact care, such as hereditary cancer, hemochromatosis, or cardiac disease it behooves both the consumer and the insurer to verify whether that finding is accurate. There are powerful pieces of data being discovered by consumer-driven testing that should not be pushed by the wayside nor 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 work flows that support third-party, accurate genetic counseling and testing processes for verification
will be necessary,5
and insurers and corporate wellness programs (eg, Welltok, Sprout, ShareCare) will likely be involved in offering these services.
Amidst 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 since 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 should use CGCs as genetic utilization 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 their insured until that person develops cancer
, depriving that patient from the opportunity to avoid developing cancer
or detecting it earlier by knowing his/her hereditary cancer genetic status and choosing high risk surveillance or prophylactic surgery7
(See Table 1
CMS has chosen to use the narrowest of definitions when evaluating whether a patient has “sign 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 based on family history, 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 for the patient and his or her 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 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 add salt to 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, the chance to learn whether their cancer is hereditary, as well as 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 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 over that 9-month 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) are 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 extremely 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 certified genetic counselor with experience in the payer system to serve as a Director in Genetics. He/she should oversee review and revamping of all testing criteria. Most expert guidelines, including those from NCCN and 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 indicator of possible hereditary contribution to disease.14,15
CMS should also immediately recognize certified genetic counselors as healthcare providers. Of note, the “Access to Genetic Counselors Services Act of 2019” was recently introduced in the Congress and 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 as well. 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 impacts the overall star-rating of a plan. If a plan has many denials that are successfully overturned, its rating may be lowered, making it harder for the insurer to market themselves 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 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
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 are creating. 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 to 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. In order 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.
: Authors are stakeholders in My Gene Counsel, LLC, a privately owned company.
This commentary will appear in the August issue of Evidence-Based Oncology
- Regalado A. More than 26 million people have taken an at-home ancestry test. MIT Technology Review. technologyreview.com/s/612880/more-than-26-million-people-have-taken-an-at-home-ancestry-test/. Published February 11, 2019. Accessed July 9, 2019.
- 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. Genetics Med. 2018;20(12):1515-1521. doi:10.1038/gim.2018.38.
- Invitae website. www.invitae.com/en/. Accessed July 9, 2019.
- 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.
- My Gene Counsel website. mygenecounsel.com/onestop/. Accessed July 9, 2019.
- Larsen Haidle J, Sternen DL, Dickerson JA, et al. Genetic counselors save costs across the genetic testing spectrum. Am J Manag Care. 2017;23(SP10):SP428-SP430.
- Medicare coverage database. CMS website. cms.gov/medicare-coverage-database/. Accessed July 9, 2019.
- Medicare Claims Processing Manual. Chapter 16, Laboratory Services. CMS website. cms.gov/Regulations-and-Guidance/Guidance/Manuals/Downloads/clm104c16.pdf
- National Comprehensive Cancer Network. Genetic/familial high-risk assessment: breast and ovarian. Version 3.2019. www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf. Published January 18, 2019. Accessed July 9, 2019.
- Quinn B. How the CMS NCD in oncology genomics went sideways: 2017-2019. A Discoveries in Health White Paper. www.discoveriesinhealthpolicy.com/2019/03/cms-oncology-genomics-ncd-white-paper.html. Published March 6, 2019. Accessed July 9, 2019.
- National Coverage Analysis (NCA) Tracking Sheet for Next Generation Sequencing (NGS) for Medicare Beneficiaries with Advanced Cancer (CAG-00450R). CMS website. cms.gov/medicare-coverage-database/details/nca-tracking-sheet.aspx?NCAId=296. Updated April 29, 2019. Accessed July 9, 2019.
- Klein RD. Medicare should stop blocking access to next-generation sequencing for people with hereditary cancer. STAT News. statnews.com/2019/03/01/restore-access-next-generation-squencing-hereditary-cancer/. Published March 1, 2019. Accessed July 9, 2019.
- Quinn B. Has Medicare canceled much of germline BRCA testing, Including for Ashkenazi populations? New 2019 MolDx LCD. Discoveries in Health Policy. discoveriesinhealthpolicy.com/2019/01/has-medicare-canceled-much-of-germline.html. Published January 2, 2019. Accessed July 9, 2019.
- Mousavizadeh R, Khosravi S, Behzad H, McCormack RG, Duronio V, Scott A. Cyclic strain alters the expression and release of angiogenic factors by human tendon cells. PLoS One. 2014;9(5):e97356. doi: 10.1371/journal.pone.0097356.
- Robson ME, Bradbury AR, Arun B, et al. American Society of Clinical Oncology policy statement update: Genetic and genomic testing for cancer susceptibility. J Clin Oncol. 2015;33(31):3660-3667. doi:10.1200/JCO.2015.63.0996.
- Access to Genetic Counselor Services Act of 2018. HR. 7083. 115th Congress.
- 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.org/10.1245/s10434-018-6621-4.
- Drohan B, Roche CA, Cusack JC Jr, Hughes KS. Hereditary breast and ovarian cancer and other hereditary syndromes: using technology to identify carriers. Ann Surg Oncol. 2012;19(6):1732-1737. doi: 10.1245/s10434-012-2257-y.
- Levy-Lahad E, Lahad A, King MC. Precision medicine meets public health: population screening for BRCA1 and BRCA2. J Natl Cancer Inst. 2014;107(1):420. doi: 10.1093/jnci/dju420.
- Childers CP, Childers KK, Maggard-Gibbons M, Macinko J. National estimates of genetic testing in women with a history of breast or ovarian cancer. J Clin Oncol. 2017;35(34):3800-3806. doi: 10.1200/JCO.2017.73.6314.