By Dr. Marc Williams, Director of the Clinical Genetics Institute
Intermountain Healthcare, Salt Lake City, Utah
My name is Dr. Marc Williams. I’m a pediatrician and medical geneticist and currently am the director of the Clinical Genetics Institute at Intermountain Healthcare in Salt Lake City, Utah. I had the pleasure of meeting Dr. Suzanne Vernon, the CFIDS Association’s scientific director, at the Genetic Alliance meeting this summer as we participated in a workshop on genetics and biobanking. Dr. Vernon asked me to contribute my perspectives on the roles of research and insurance in chronic fatigue syndrome (CFS), and specifically to comment on how better research might influence insurance companies.
In the interest of full disclosure, let me first state that my clinical and research focus is on genetic disease, not CFS. However, many complex neurogenetic conditions have signs and symptoms that can have significant overlap with CFS. Many patients I evaluate carry the diagnosis of CFS. My second disclosure is that I have worked as a medical director for a provider-owned insurance plan and provide consultation services to other payers regarding coverage decisions. This has provided an inside perspective allowing me a reasonable understanding of how decisions about coverage are made by payers that is relevant to genetics and CFS.
Patients with genetic conditions share many of the frustrations of interactions with the medical and insurance systems experienced by CFS patients. The system is not kind to patients with complex and unfamiliar conditions — particularly those who may not have objective findings or have unpronounceable names, as frequently occurs in my field. This results in relationships that can become adversarial rather than supportive. If we focus on the insurance issue, I believe it is important to define a few terms that are encountered before exploring their implications:
- Medical necessity: This language was first seen in the Medicare regulations in the mid-1960s and is in nearly all benefit documents. There is no agreed-upon definition (I chide my colleagues in the payer world by pointing out that the definition we used is paraphrased from Lewis Carroll’s character Humpty-Dumpty, “Medical necessity means exactly what I say it means, neither more nor less.”) Seriously, the intent of this term is that for a payer to pay for a test or service, the service must have a beneficial impact or make a difference in the care of the patient. To use the example of a diagnostic test, to be medically necessary, the care of the patient must be reasonably likely to change based on the results of the test.
- Experimental/investigational: Insurers (with a few specific exceptions) do not fund research — this is the responsibility of other entities. Therefore, in order for an insurer to pay for a service, there must be adequate evidence that the service has benefit. As an example, a surgical procedure that has been successful in animals when introduced into medical care for humans would not be paid for by insurers until research has shown it to be effective in humans. The problem is that there is no well-accepted threshold of evidence where a service moves from experimental to standard of care. Taking the above surgical example, if the procedure had only been done on four people and only worked in two people, virtually everyone would agree that more research was needed. Alternatively, if the procedure had been done on 10,000 people and had positive outcomes in 95 percent of them, it would be generally accepted as a standard of care. But where was the evidence threshold crossed between four and 10,000? Reasonable people with different perspectives will have different opinions leading to variations in coverage between payers.
- Benefits: All insurance policies have a set of benefits and exclusions. Payers only pay for things that they say they will pay for. In my field, we encounter policies that specifically exclude genetic tests. It doesn’t matter if the test has adequate evidence and is medically necessary, coverage is excluded. A common exclusion that affects many patients in the CFS community is complementary and alternative medicine. While modalities such as acupuncture, massage, therapeutic touch and others provide significant relief to many patients with CFS, insurance will not reimburse for these services if they are not a covered benefit. Sometimes riders that cover excluded services can be purchased at additional cost.
By explaining these terms, it becomes clear the importance of the role of research, particularly translational research, for disorders such as CFS. Unless research is able to generate evidence of benefit of medications, procedures or other treatments, insurers will not pay for the services. Given the increasingly limited amounts of research funding and the disparity of funding for basic science (or discovery) research compared to clinical research, organizations such as the CFIDS Association become increasingly important in ensuring the needed research is done.
As the evidence becomes available, it is critically important to engage with payers, particularly those with active technology assessment programs, to make them aware of the evidence so that can influence their coverage policy. This can also be done by individual patients through the grievance and appeal processes offered by payers. A member can appeal adverse decisions that are based on medical necessity or an experimental/investigational determination, but not a benefit exclusion.
The key here is to know your rights as defined in your policy, follow the rules, be persistent and present the evidence in an informed and friendly manner. The latter is important, as in situations where the decision could go either way, being the “nice person” can be the deciding factor. In many states, there is also the opportunity to request an external review. This may necessitate a modest fee, but the insurer bears most of the cost. Studies show that nearly 60 percent of appeals result in a reversal of the original denial.
There is a new concept emerging that hopes to bridge the gap between research and insurance coverage. This is called “coverage with evidence development.” This is where a payer agrees to cover a promising therapy or intervention if the patient is enrolled in a clinical trial that is studying that specific therapy. A current example is the decision by Medicare to cover pharmacogenomic testing to inform dosing of the anticoagulant warfarin. Medicare would not usually cover this testing, as there is not sufficient evidence that this testing will decrease adverse outcomes associated with the use of warfarin; therefore, it is considered investigational. It was recognized that large numbers of patients would be needed to answer the important question of whether this testing would reduce adverse events and improve patient outcomes. By covering the testing for patients enrolled in clinical trials, it is hoped that this question could be answered more rapidly.
If this proves successful, it may open the door for more direct collaboration between researchers and payers, which would be to everyone’s benefit. Participation in organizations such as the CFIDS Association and actively seeking partnerships with payers will make it more likely that research into the causes, diagnosis and treatment of CFS will take place.
Marc S. Williams, MD, FAAP, FACMG, is an alumnus of the University of Wisconsin-Madison, having graduated with a bachelor of science degree in chemistry in 1977, and an MD in 1981. He conducted his pediatric residency at the University of Utah from 1981 – 1984. After two years of solo practice in Hillsdale, Mich., he joined the Riverside (Calif.) Medical Clinic as a general pediatrician and practiced there until 1991. From 1991 until joining Intermountain Healthcare, Dr. Williams served at the Gundersen Lutheran Medical Center in La Crosse, Wis. Hired as a general pediatrician, he eventually pursued fellowship training in clinical genetics and was board certified in this specialty in 1996 and recertified in 2006. In 1999, he gave up general pediatric practice to become the associate medical director of the Gundersen Lutheran Health Plan while maintaining his genetic practice. It was by combining these two areas of expertise that he developed an interest in the role of genetics in health care delivery. He has published and presented extensively on this topic. Since January of 2005, he has been the director of the Intermountain Healthcare Clinical Genetics Institute in Salt Lake City, Utah. In addition to his administrative duties, Dr. Williams runs a clinic for the evaluation of adults with mental retardation, birth defects and genetic disorders. He is a clinical professor of pediatrics in the Division of Medical Genetics and adjunct professor of biomedical informatics at the University of Utah. Dr. Williams is a director of the board of the American College of Medical Genetics, and in 2009 was elected vice president of clinical genetics. He has participated in the Personalized Medicine Workgroup of the U.S. Department of Health and Human Services’ American Health Information Community Task Force; chaired the CDC’s EGAPP Stakeholder’s Group; was a member of the CDC’s CETT program review board; and was a member the Secretary’s Advisory Committee for Genetics, Health and Society, having previously served on the Coverage and Reimbursement Task Force of that group. He is a past chair of the Committee on the Economics of Genetic Services of the American College of Medical Genetics (ACMG), as well as chair of the subcommittee on Health Care Systems of the Section on Genetics and Birth Defects of the American Academy of Pediatrics. He is currently chairing the ACMG’s ad hoc Committee on the Value of a Genetic Diagnosis and was recently named to the external scientific panel of the NHGRI’s eMERGE project. He founded the American College of Medical Genetics Quality Improvement Special Interest Group. He is the editor-in-chief of the Manual on Reimbursement for Medical Genetic Services. Dr. Williams has authored over 50 articles in the peer-review medical literature and is a frequent presenter at national and international meetings.