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ACMG Aims for Broader Definition of Clinical Utility to Boost Payor Coverage of Genomic Tests


NEW YORK (GenomeWeb) – Amidst progress toward bringing next-generation sequencing technology into the clinic, one significant hurdle has been in obtaining reimbursement for such tests.

Although new CPT codes specific to NGS-based tests went into effect this January, many payors regard them as investigational and will not reimburse.

Now, the American College of Medical Genetics and Genomics is addressing at least one of the reasons payors often cite in their reasons for not reimbursing — clinical utility. In a statement published last week in Genetics in Medicine, ACMG argued that clinical utility should be defined not only by whether a test leads to an intervention that results in improved outcomes, but that it should also take into account the effects of getting a diagnosis, patient management, and the potential for prognosis on the individual being tested, the individual's family members, and society in general.

Mike Watson, executive director of ACMG, told GenomeWeb that ACMG issued the statement as a response to a declining number of genetic tests, not only NGS-based ones, being covered, particularly since the new CPT codes were implemented.

There's been a "significant change in the way payors look at a particular test, in terms of whether it should be covered," he said.

For instance, he said, many genetic tests that have been covered for years are now not being covered because payors have determined that they do not lead directly to a better outcome in the individual being tested, citing Fragile X testing as one example. Some contractors have "essentially decided that there is no value in an etiological diagnosis," he said.

In the statement, ACMG makes the case that clinical utility is much broader than a direct impact on patient outcome. It should be defined by all the benefits that that patient, family, and society as a whole experience.

The ACMG "profoundly disagrees with the narrow view held by some payors," the authors wrote. "We submit that the clinical utility of genetic testing and services should take into account effects on diagnostic or therapeutic management, implications for prognosis, health and psychological benefits to patients and their relatives, and economic impact on healthcare systems."

Other leaders in the clinical sequencing field agreed with ACMG's statement.

David Dimmock, an associate professor at the Medical College of Wisconsin, told GenomeWeb that the statement raises several "important concerns about the way insurance and federal agencies assess the utility of genetic and genomic testing." He noted that it has been "frustrating to most providers that factors beyond a narrow focus in changing medical management are not included in assessment of utility."

Stan Nelson, professor of human genetics at the University of California, Los Angeles added that because the statement comes from a major professional group "it will be harder for the payors to ignore." The statement "articulates why it's important to identify the molecular causes of specific diseases even if you're not going to change the drug therapy."

"This statement is a step in the right direction," Art Beaudet, the Henry and Emma Meyer chair and professor of molecular and human genetics at Baylor College of Medicine, told GenomeWeb. Exome sequencing is the "newest and best diagnostic service that's available to children and adults with likely genetic disorders," he said, and "the sooner [payors] get on board, the better for everyone."

Currently, Watson said that most diagnostic tests that lead directly to a change in medical management and better patient outcomes are covered. However, tests like exome sequencing, even when they can diagnose a patient's disease, do not always lead to an immediate intervention. Nonetheless, Watson said that such tests still have utility.

In its statement, ACMG argues that a diagnosis in and of itself has utility. It can end a diagnostic odyssey, prevent further invasive testing, and save families money, Watson said. In addition, that information could lead to benefit for future patients if new treatments are developed, and it can also help foster a better understanding of the disease if additional patients with the same molecular alteration are identified.

Dimmock said that the statement could even go further in emphasizing this point. In other areas of medicine, diagnoses do not change outcomes, yet are still covered by insurance, he said. For example, a diagnosis of several end-stage cancers provides an explanation of the symptoms, but does not change the outcome. Similarly, there is no therapy to change the outcome of the underlying cause of end-stage dementia. However, in both cases, "physician assessments to establish such diagnoses are appropriately covered by insurance. Why should genetic disease be any different?" Dimmock said.

Family utility

Furthermore, a diagnosis can provide great utility to that patient's family, which should also be taken into consideration, ACMG noted. Diagnosing an individual with a rare disease enables family members to test their own carrier status so that they can make informed reproductive decisions.

Watson said that Novitas, an administrative services processing company for government-sponsored healthcare, stopped covering genetic tests for Fragile X syndrome, saying that a diagnosis can be made without a molecular test. Watson said that there are many cases where a molecular diagnosis is needed due to variations in phenotypic presentation. In addition, diagnoses of Fragile X that are made absent a molecular test often do not occur until the patient is four or five years old, by which time the parents may have already made family planning decisions that would have been different had they had a molecular diagnosis.

A healthcare system "focused only on individuals misses significant opportunities for prevention of disease in other family members by not allowing the service to be delivered to patients," Watson said.

Ending a child's diagnostic odyssey can also provide mental and emotional as well as economic relief for parents. "Many of these patients undergo very expensive workups," Beaudet said, so the net added cost of doing exome sequencing is minimal and may even be a savings.

One argument for not covering such broad genomic approaches is that they can often yield incidental findings that may have implications for other family members, such as a cancer predisposition gene, which is not the intent of the test.

However, Nelson noted that "the use of genomic technologies to identify the causal mutations of a disease or syndrome vastly outweighs the potential issues of identifying risk alleles that will impact the child later in life or a [related] adult."

Beaudet agreed that "given the advantages, [incidental findings] are a very small concern."

In addition, he added, uncovering disease risk information about family members can benefit the healthcare system in the form of prevention. For example, identifying mutations that predict an increased risk of colon or breast cancer "could be lifesaving," Beaudet said.

Dimmock added that the "the current health economic paradigms do not consider the benefit to the system of such screening," even though it "may save money to companies."

Dimmock said that ACMG's statement could have emphasized such potential economic benefits even more. A diagnosis can save money by preventing continued evaluation for treatable conditions, he said.

Societal utility

Finally, ACMG said that utility should be looked at beyond the specific individual and family, and extend to the broader society.

Genomic approaches enable clinicians to "put a patient's syndrome in a specific genomic context and then compare it to all previous patients with that molecular change," Nelson said.

This enables not only a better understand of a specific disease, but can also lead to new therapeutic options. "There needs to be a number of cases identified by a disease before there will be interest from drug companies in trialing potential new therapies," Dimmock said. However, Dimmock acknowledged that whether payors should cover a test because of the utility to society is still controversial.

Watson said that he hopes that payors are attentive to the statement, and that it educates people about the utility that can be realized from genetics services.

Beaudet thinks it is likely a matter of time before payors start paying for genomic and genetic testing.

He said that aside from the ACMG statement, statements in support of genomic tests by patient advocacy groups like Genetic Alliance would likely also have an impact in prompting acceptance by payors.

Genomic tests "give answers far, far more frequently than ever before," Beaudet said. "I think it's inevitable that they will become routine."