NEW YORK – While some professional organizations and clinicians have moved of late to embrace expanded genetic carrier screening panels, securing payor coverage for these tests remains a challenge.
This divide was recently put into sharp relief as a number of genetic counselors have voiced concerns about a perceived uptick in denials for expanded carrier screening (ECS) claims even as in February the National Society of Genetic Counselors released new practice guidelines recommending ECS "be made available for all individuals considering reproduction and all pregnant reproductive pairs."
In particular, they added, UnitedHealthcare has clamped down on approving requests and reimbursements for such screens.
Carrier screening is used to test individuals who are considering having children for genetic conditions that they could potentially pass on to their offspring. Traditionally, such screening has tested for a relatively small number of conditions, with the specific tests given to an individual determined in part by their ethnicity.
Over the last decade, advances in genetic technology, along with concerns that traditional ethnicity-based testing was missing many carriers, have led to the rise of ECS, which tests for alterations in dozens or hundreds of genes, as opposed to the smaller number of genes — typically five or fewer — examined by conventional carrier screening.
"Traditionally, the conditions for which individuals were offered screening has depended on their self-reported race or ethnicity," said Aishwarya Arjunan, senior medical science liaison at Grail and formerly a clinical product manager of carrier screening at Myriad Genetics.
Individuals of Ashkenazi Jewish heritage, for instance, are commonly screened for a number of conditions including Tay-Sachs disease, Bloom syndrome, Niemann-Pick disease, Gaucher disease, and maple syrup urine disease. Individuals with African, Middle Eastern, Southeast Asian, West Indian, or Mediterranean ancestry may be screened for hemoglobinopathies like sickle cell disease (though this is commonly done using electrophoresis rather than genetic testing).
This ethnicity-based approach has downsides, though, Arjunan noted. In many cases, individuals may not have comprehensive knowledge of their ethnic background, which makes self-reported ethnicity an unreliable guide to assessing a person's risk of carrying a deleterious mutation.
Furthermore, "in many cases, disease frequency or allele frequency for rare conditions might be unknown or underestimated in certain ancestries," said Katie Sagaser, director of genetic counseling at prenatal testing firm JunoDx.
This is particularly a challenge in groups that have historically been medically underserved, which raises the possibility that ethnicity-based carrier screening could exacerbate existing healthcare disparities.
Major payors, however, remain reluctant to cover ECS, with most arguing that there is not yet enough evidence of clinical utility for many of the genes included in ECS panels as well as little standardization across ECS panels offered by various providers.
Recently, this issue of ECS coverage has come to the fore as reports have circulated within the genetic testing and genetic counseling community that UnitedHealthcare, the largest private health insurance company in the US, has increased ECS denials since the end of last year.
Ellen Matloff, a genetic counselor and president and CEO of genetic counseling firm My Gene Counsel, said that in conversations with labs in the ECS space, she had been told that starting in December 2022 they had seen a significant uptick in denials for ECS.
Divya Ramachandra, a genetics program coordinator with Downers Grove, Illinois-based Advocate Aurora Health, likewise said via email that she has lately seen a large number of ECS denials from UHC.
Lee Bendekgey, head of policy at genetic testing firm Invitae, also said that his firm saw UHC tighten its ECS coverage last year.
The uptick in denials comes as something of a surprise, said Lauren Westerfield, a genetic counselor at Texas Children's Hospital.
"We previously were under the impression that the [commercial] insurance landscape as a whole was moving in the direction of providing more coverage for expanded carrier screening compared to, say, five or 10 years ago," she said.
This reported increase in denials for ECS doesn't appear to stem from any changes in UHC's formal coverage policy. A spokesperson for the insurer said it has not changed its ECS coverage, and its most recent policy document, which was released in December 2022, is consistent with previous documents in defining ECS as panels analyzing five or more genes (except in the case of Ashkenazi Jewish individuals) and declaring such testing "unproven and not medically necessary."
Ann Lambrix, VP of revenue cycle management solutions at lab consulting firm Lighthouse Lab Services, suggested that the uptick in denials is perhaps part of a more informal pushback on what UHC and other insurers view as overutilization of ECS.
"What happens is you have all this new technology coming out, labs start billing for these tests, and then you see overutilization happening," she said. "Then [insurers] say, 'Whoa, whoa, whoa, what's going on here?' And then that window [for labs to have tests covered] is closed."
Heather Agostinelli, VP of strategic revenue operations at lab consulting and revenue cycle management firm Xifin, said that while UHC's formal ECS coverage policies have not changed, she has seen the company crack down on ECS panels submitted using stacked code billing, in which labs bill for each individual gene being tested as opposed to using the appropriate CPT code for a multi-gene panel (code 81443 in the case of ECS). Stacked code billing can be more lucrative for labs and has been used by some to bill for services, like ECS, that would likely be denied if submitted under the appropriate CPT code. It is not generally permitted by payors, however.
Agostinelli said that she is "definitely aware" of labs — both smaller outfits and large national firms — that have used stacked code billing to submit ECS claims to UHC.
"I've seen very large labs that have stacked code billed [ECS testing] even though the 81443 [CPT code] was appropriate based on what they were performing," she said. "And I'm definitely aware [of cases] where UHC was paying" those claims.
"So, that yielded a much higher payment [for labs], whereas if they had billed to UHC using 81443, they are going to get a denial, because it's not covered," Agostinelli said.
UHC has since "wised up," she said. "And I've seen UHC come back after laboratories for multiple millions of dollars."
She added that the labs she knew of who submitted ECS claims using stacked code billing have since stopped the practice, though she said that "it would not surprise me if there were labs that were still doing that."
UHC's ECS coverage policy isn't an outlier, Agostinelli said, noting that among large payors, ECS is "largely denied."
"United isn't really unique in this regard," agreed Invitae's Bendekgey. "When it comes to carrier screening, I would say that, in fact, most payors focus on a handful, sometimes as few as two genes [typically genes linked to cystic fibrosis and spinal muscular atrophy], that they are interested in paying on. Outside of that, in general, most payors won't pay for a broader panel."
Agostinelli said that she has seen some labs negotiate coverage for ECS in their payor contracts under the 81479 CPT code, which covers unlisted molecular pathology procedures, but said that she has not personally seen labs secure coverage in their contracts for ECS under the 81443 code.
Agostinelli said, though, that she believes payors will come under increasing pressure in coming years to cover ECS due to the downsides of ethnicity-based screening and added that for labs with sufficient resources, it may make sense to establish their ECS testing business now in anticipation of future coverage.
"You may choose to make an investment in ECS with the understanding that you aren't going to get paid right now but that in the next couple of years you are going to see payors turn and start to pay," she said.
Insurers often take cues on coverage decisions from professional society guidelines, and here there has been some movement toward ECS recently. As noted above, new guidelines from the National Society of Genetic Counselors (NSGC) recommend ECS be made available to "all individuals considering reproduction and all pregnant reproductive pairs." In 2021, the American College of Medical Genetics (ACMG) released new practice guidelines that recommended against ethnicity-based screening and recommended that all patients be offered screening for conditions with a carrier frequency of 1/200 or greater, which would qualify as ECS as defined by many major payors.
The American College of Obstetricians and Gynecologists (ACOG), however, still considers ethnicity-based carrier screening acceptable, stating in its current guidelines, which were written in 2017 and reaffirmed this year, that "ethnic-specific, panethnic, and expanded carrier screening are acceptable strategies for prepregnancy and prenatal carrier screening."
Sagaser suggested that insurers should give more weight to recommendations from the NSGC and ACMG when considering carrier screening coverage policies.
"I think if we all are in agreement that this really is the era of genomic medicine, precision medicine, who understands genetic testing and all of its complexities more than genetics experts?" she said. "I would like to see a shift where more payor policies turn directly to guidelines from genetics societies."
Bendekgey said, though, that payors are unlikely to embrace ECS until ACOG singles it out as the method of choice.
"Cancer and reproductive health are the two areas of genetics where you do have professional societies that are very influential when it comes to guidelines" and payor coverage, he said. "In the case of reproductive health, that professional society is ACOG. ACOG is probably the key body here."
Bendekgey said that because the ACOG guidelines don't identify ECS as the preferred approach for carrier screening, they have given payors cover to refuse paying for it.
"Until they adopt a different position, I think it is frankly unlikely that you are going to see changes in payor policy," he said. "If they do change their position, I think you could see payors move rather quickly."