Make Me Wanna Holler

Oh, make we wanna hollerHollerin' Man

And throw up both my hands

Make me wanna holler

They don’t understand

Inner City Blues, written by Marvin Gaye and James Nyx, Jr

Multigene panels have perked up the world of hereditary cancer testing. After 15 years of Myriad-dominated BRCA testing as pretty much the only testing option for at-risk families, cancer genetic predisposition testing has been reinvigorated by a whole slew of labs offering a bewildering array of testing options – panels focused on a specific type of cancer, panels limited to highly penetrant genes only, multi cancer gene panels, panels that include moderately penetrant genes, and even design-your-own panels. This isn’t a perfect world and the pick-up rate of new mutations is a bit disappointing. Still, sunshine and fresh air are starting to flow through some of the dark and musty corners of hereditary cancer risk testing.

But all of a sudden health insurers are starting to rain on the parade of new tests. Over the past year, a number of health insurers – local and national – have backed off from covering multigene panel tests after having  previously provided coverage. Regence Blue Shield, First Choice, HMA, CIGNA (with a few rare exceptions), BlueCross BlueShield of Kansas, and now Federal Blue Cross and Aetna (which doesn’t even cover large genomic rearrangement testing!), among others, have put policies in place that specifically exclude coverage of multigene panels. What’s going on here?

I don’t want to stereotype health insurers as amoral profiteers looking to cut a few corners to increase their bottom lines by denying recommended medical care (though admittedly the temptation to do so was strong). That is foolish name calling that gets us nowhere. The policy changes are presumably based on a lack of data on our part rather than a lack of conscience on the part of the insurance industry.  Why should insurers cover  multigene panels if care providers can’t demonstrate that they improve patient outcomes or make for more economical use of medical resources? Health care costs are expanding at a quicker rate than the visible universe and any new tests should have clear-cut medical or economic benefits.

universe v healthcare, courtesy of Emily Singh

The problem lies in the very nature of genetic disease. Genetic conditions are rare. Even with the BRCA genes, the most common highly penetrant cancer risk genes, it took nearly ten years to accumulate convincing data on clinical utility and cost effectiveness. All of the other cancer risk associated genes are far less common. It is impossible to conduct clinical and cost-effectiveness studies on each gene, especially for the moderately penetrant genes. Simply put, we will never be able to provide the data that insurers are demanding.

But enough kvetching. Let me offer some ways to address this problem.

  1. Insurers need to understand that this is a whole new world in genetics and therefore they must use different standards for determining coverage for testing for uncommon conditions. An alternative way of thinking is to look at genetic diseases as defects in pathways rather than as isolated genes. Given what we have learned about the BRCA/Fanconi pathway, it is reasonable to assume that many genes in the pathway – NBN, PALB2, ATM, etc. –  will have some impact on cancer risk. If research can demonstrate the benefits of testing for one gene in a pathway, this should provide solid ground for assuming that testing other genes in the pathway will likely be beneficial as well. Adding more genes to a testing panel should result in greater medical benefits, though admittedly to varying degrees. Sure a few genes in a pathway may eventually turn out to have little clinical value, but those can be discarded along the way.
  2. Insurers must realize that adding more tests to a panel does not substantially increase the costs. Thanks to massively parallel sequencing, it costs no more to run four genetic tests than it does to run forty genetic tests. While the greater number of positive genetic test results may result in greater indirect costs because more patients will test positive for a mutation and will be undergoing screening and risk reducing procedures, this will be partially offset by eliminating the need for screening and prophylactic measures in family members who test negative for familial mutations. In a high risk family where no mutation has been identified, everyone in the family needs testing. However, if a mutation is found in the family, on average only half as many people will be high risk.
  3. Insurers should make multigene panel testing contingent on genetic counseling with a qualified professional to help assure that patients are provided with the most accurate and up to date information about the clinical implications of the test results.
  4. Clinical guidelines of professional organizations such as the NSGC, ACMG, NCCN, ASCO, should endorse multigene panels. Not necessarily specific gene panels, but rather the concept of multigene panels in general. Insurers will have a harder time denying coverage for a test if is widely recommended by groups that help set standards of care.
  5. We must continue to conduct clinical and economic studies to help determine the utility of multigene panels. The studies will require broad cooperation among labs, research institutions and individual researchers, patient organizations, and international consortia. And genetic counselors should be at the forefront of these studies. We are the boots on the ground for almost every new genetic test and are in a prime position to lead research efforts. We should be driving this mule team, not sitting in the back of the wagon hoping that we don’t fall off at the next bump.
  6. As I have discussed previously, there is reason to believe that some labs may be engaging in deceptive billing practices if they do not let insurers know that a panel is being but the insurer is only billed for BRCA analysis. This, in my view, is frankly unethical and creates an atmosphere of distrust. I would not be surprised if this has partially contributed to insurers’ reluctance to cover multigene panel testing. Such practices, if they are taking place, must be discontinued. Honesty and openness are sine qua non in any relationship.

Patients have the potential to benefit greatly from advances in genetic testing. But new technologies also create new challenges and require new ways of thinking about the care that we provide and how we justify paying for it.



Filed under Robert Resta

6 responses to “Make Me Wanna Holler

  1. Katie Stoll

    Nice post, Bob. I wonder though if it is really the vanishing insurance coverage for gene panels or the Seahawks game that has left you crying and pulling your hair out this evening ;-). I agree with so much you have said here, although I want to understand more about your *pathways* recommendation in #1. Are you suggesting that we use BRCA guidelines to guide care for women who carry mutations in genes in this pathway other than BRCA1/2? Unless in the future these genes are proven to be of little clinical value? I am not sure I feel comfortable with the assumption that all genes in the pathway necessitate the same degree of management until proven otherwise. I don’t know what the right answer is with all of this, but I can understand why insurers are not always supportive of testing when there isn’t good evidence to demonstrate how we can use this information to benefit patient care. I wish there was more money for research to develop best practices with regards to prevention and early detection for all of these newly tested for genes. Perhaps the insurers would be okay with paying for big panels, which as you point out, often cost no more than screening a couple of genes, if they knew the next step would be that patients who test positive would have access to research trials that would allow them to get increased screening or other care through research and not on the insurers dime. This research could develop the evidence that is needed to support recommendations for mutation carriers. Maybe the recently discussed precision medicine initiative will help provide the funding for the research piece of the puzzle and insurers will reconsider authorizing panel testing for those patients who meet criteria for well-established cancer susceptibility syndromes, for whom they would pay for testing for a couple of genes at the same price anyways. And then genetic counselors would be able to spend less time writing letters of medical necessity and more time providing genetic counseling to the growing number of families who will need it.

    • Robert Resta


      I don’t mean to imply that all genes in a pathway engender the same degree of risk or necessitate the same management strategies (of course, until we start testing these genes, we will never know). Rather, I meant that pathways can be a broad guideline for an insurer to use in thinking about the value of the genes included in a multigene panel. A good example is testing for Lynch syndrome, which initially started out with just MLH1 and MSH2. As EPCAM, PMS2, and MSH6 were added, there was only minimal resistance from insurers. Mutations in these different genes carry different cancer risks and somewhat different management strategies that we are just starting to sort through (with a few exceptions, we don’t really want to recommend that a 20 year old PMS2 mutation carrier join the Annual Colonoscopy for Life Club, at least not for another ten years). Different genes in the pathways may not require the same management, but they can be part of the tool box that we use to figure out who should or should not have high risk screening or think about risk reducing strategies.

      I am not convinced, however, that making patients eligible for research trials would make insurers excited about providing coverage. If that were a side benefit to testing, sure, why not. But as a primary reason for testing, it is hard for me to believe that insurers are interested in funding testing so patients can enroll in that kind of research study.

  2. Cathleen McCann

    I especiaially agree with your points 3 & 4, Bob. Overall, these are sound points that need to be made as often as we can. I question whether the billing practices for panels is deceptive — I have written in a couple of LMN that the lab is doing the (BRCA) and the others at no charge, in fact, the insurance company told me that they “didn’t care how many other genes the lab threw in there, they were only paying for the BRCA” so I feel like its a game on both ends. Ultimately, my biggest concern is for the patient to get the right test!!

    If i might add another point, the labs are not doing any service to patients when they market their panels to the OBs, primary providers, etc. as an easy DIY test. Had a NP who ran a full MyRisk on the daughter of my patient w/KFM, cause the rep from big M said she could. Geesh. Number 3 for sure!!

  3. Anonymous

    While I absolutely agree with #3, I cannot imagine that it will ever be a reality. Cigna spearheaded this idea; but there was a lot of push back from ASCO and patient groups (who clearly did not understand the value of genetic counseling). Furthermore, I don’t think we should be so narcissistic to believe that genetic counselors should be the only ones ordering genetic testing — it’ll turn into a turf war with physicians not wanting to be told what they can and cannot order. Instead of pointing fingers at the laboratories who are aggressively marketing to non-genetics providers OR the providers who are ordering inappropriate testing and/or providing sub-par “genetic counseling,” we as a profession need to sell ourselves and what we do. We are obviously much more than “genetic testing facilitators.” Whether it’s doing a grand rounds, speaking to the OBs or primary providers individually, or speaking within the community, we need to sell the value of genetic counseling and get people to make those referrals. I realize it’s easier said than done, but complaining about it is not going to solve the issue.

    I also agree that until we have better cancer risk information and ideally, concrete management guidelines, it is very difficult to justify these multi-gene panels to insurance. And until that day comes, we do need professional organizations to endorse these panels. Also, we should all be referring people with these VUS’s or mutations in genes outside of BRCA1/2 to registries to collect the needed data, such as the PROMPT study.

  4. I agree to patients have the potential to benefit greatly from advances in genetic testing. However, new technologies also create new challenges and require new ways of thinking about the care that we provide and how we justify paying for it. For hereditary cancer risk, no longer are single syndrome tests the best diagnostic. Panel testing encompasses multiple genes that are associated with a single cancer, as well as single genes that show to be involved multiple cancers. To optimize patient care, it is important to verify, who is the best candidate within a family to test, and identify laboratories with the greatest accuracy in results.

  5. Anonymous

    Great article! It’s the unfortunate (but understandable) truth that insurance companies won’t cover the cost of panels until there is compelling evidence that they improve health outcomes and ultimately save insurance companies money. It’s a Catch-22, however, in that insurance companies won’t pay until research demonstrates the benefits of panels, but data regarding penetrance by gene won’t become avaiable until a sufficient number of patient undergo panel testing (which insurance coverage precludes). PROMPT and other research initiatives are a great start, but if only we had a magic wand to speed up the data collection process…

    It really boggles the mind that some insurance companies refuse to pay for panel testing when the cost of single gene testing is pretty much identical. Why wouldn’t they pay for a more comprehensive test if the cost is no higher? Granted evidence for improved health outcomes is still lacking, but research has already proven that panels can double the sensitivity of cancer genetic testing!

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