America’s policy makers are rightly concerned about identifying the best ways to provide access to affordable health care. Whether it’s reforming the Affordable Care Act or trying to implement “Medicare for all,” there is no shortage of discussion about this important topic. So it’s a surprise that little attention has been given to an unsound Medicare decision that each year will deprive an estimated 20,000 women access to comprehensive testing for hereditary breast cancer.
Next-generation sequencing, a technique that can sequence an individual’s entire genome in as little as an hour, has the potential to revolutionize medicine. Like other laboratory tests, next-generation sequencing tests analyze specific genes or genetic changes with known relationships to disease. The technique can examine single genes or an entire genome for conditions as diverse as autism and cancer. The breakthrough advance is the ability of next-generation sequencing to rapidly, inexpensively, and simultaneously read the sequences of hundreds to thousands of genes. This can give physicians clinically relevant information that was never before available.
In March 2018, the Centers for Medicare & Medicaid Services took the promising step of approving payment for next-generation sequencing across the country for Medicare beneficiaries in what’s called a national coverage determination. This decision gave people with cancer uniform access to next-generation sequencing tests that allow physicians to prescribe genetically targeted drugs that have been specifically engineered to fight their diseases.
Medicare limited payment for testing to patients with “recurrent, relapsed, refractory, metastatic, or advanced stages III or IV cancer.” In other words, advanced or later-stage cancer. That’s a reasonable restriction. There’s little evidence that most patients will benefit from sequencing the genes of early-stage cancers in order to identify targeted therapies.
However, in a quiet November announcement, CMS said that under its previous March coverage decision it would not pay for next-generation sequencing to identify hereditary cancer syndromes in people with early-stage cancers. That’s a very different reason for sequencing than trying to select the right drug for treatment, and it also makes no scientific sense.
Each year, approximately 10 percent of the thousands of people who are diagnosed with cancer have inherited genetic mutations that can be directly linked to their diseases. They inherited this predisposition to cancer from their parents, and can pass it on to their children. Examples of hereditary cancer syndromes include hereditary breast and ovarian cancer syndrome and Lynch syndrome, which predisposes to colon, endometrial, and other cancers.
People with hereditary cancers are usually at increased risk of developing a variety of additional cancers. Next-generation sequencing can reveal their heightened risks and help physicians guide their care, making this among this technique’s most well-established and widely accepted uses.
There is no relationship between the benefit derived from next-generation sequencing among individuals with inherited cancer syndromes and the extent of their cancer’s progression — meaning that there is no medical or scientific rationale for limiting such testing to those with advanced cancer. In fact, patients with early-stage cancers are far more likely to be cured and live long enough to develop other malignancies. Therefore, knowledge of an increased risk for other tumors will help early stage patients more those in later stages of disease.
Women with inherited breast cancer, for example, are also at increased risk for ovarian and pancreatic cancer as well as for melanoma, a deadly form of skin cancer. But under Medicare’s November interpretation, it will not pay for multigene next-generation sequencing for a woman whose breast cancer is detected early enough to be cured. The same holds for individuals with inherited colon cancer who also may be predisposed to developing endometrial, stomach, breast, ovarian, prostate, and pancreatic cancer.
Medicare’s notice of its intent to apply the advanced-stage requirement to people diagnosed with inherited cancer overruled existing policies that paid for this testing nationwide. The notification prompted more than 60 patient, physician, and laboratory organizations to strongly urge CMS administrator Seema Verma to rescind the Agency’s action. I am on the board of directors of the Association for Molecular Pathology, which organized the letter.
CMS made its November ruling retroactive to March 2018. Laboratories across the country performed next-generation sequencing for diagnosis in individuals suspected of having hereditary cancers after the March coverage determination went into effect. These laboratories billed Medicare in good faith, in accordance with previous local Medicare contractor decisions that had approved payment for their tests. They could now risk enormous penalties if they do not return what Medicare reimbursed them for performing these tests.
Extending CMS’ restrictive next-generation sequencing payment rules to cancer patients tested for diagnosis of hereditary cancers is a grievous error. It injures individuals with hereditary cancer by denying them the possibility of identifying the genetic causes of their cancers and any predispositions they may have to develop additional malignancies. It will also potentially damage the laboratory providers that serve these patients.
Medicare should once again cover next-generation sequencing for its beneficiaries in whom hereditary cancer is suspected.
Roger D. Klein, M.D., the former medical director of molecular oncology at the Cleveland Clinic, is a faculty fellow in the Center for Law, Science, and Innovation at the Sandra Day O’Connor Law School at Arizona State University and an expert with the Regulatory Transparency Project. He is also on the board of the Association for Molecular Pathology.