I just received a letter from Myriad Genetics regarding likely changes in the Medicare policy for reimbursement of genetic testing. The letter summarizes a number of proposed changes to this policy which are likely to go into effect beginning Nov. 1.
There's some good news here:
- Inclusion of criteria for testing of the MSH6 gene in Lynch syndrome (aka Hereditary Non-polyposis Colorectal Cancer [HNPCC] syndrome)
- In order for genetic testing to be reimbursed, documentation requirements will include an Informed Consent document that indicates that the patient has been informed of a number of specific issues and agrees to post-test counseling
There is some news that is perhaps not so good:
- There will be a clear-cut requirement that there be documentation in the medical record and/or office notes that the genetic testing is intended for the medical management of the patient (i.e., the patient sitting in front of the physician or genetic counselor, not their family members). This is potentially bad news for those who feel strongly that genetic information has substantial value beyond that which immediately affects clinical care and decision-making. However, it is not surprising given the enormous cost pressures on Medicare and the ways in which we fund and evaluate medical care currently in the U.S.
- Testing of unaffected (i.e., no personal history of cancer) individuals will not be covered. This is potentially a big problem. And many will argue that it is a misguided rule change. Although the Medicare population is 65 and older and perhaps less likely to benefit from preventive options guided by genetic testing, this proposed change will negatively impact care of families guided by genetic testing in a very important way:
A common scenario in the cancer genetics clinic might involve a woman who is in her mid-30s and concerned about her risk for breast and ovarian cancer, because one of her paternal aunts died of premenopausal breast cancer and another of her father's sisters died of ovarian cancer diagnosed in her 40s.
A cardinal rule in clinical cancer genetics is that you always want to do the genetic test on someone in the family who has had a cancer diagnosis that is suspicious for the risk syndrome that you are considering. If either of this woman's aunts were alive, they would clearly be the best people to test first.
However, they both died of their disease. In the absence of other individuals with cancer to test, the patient's healthy father would be the next best person to test. The reasoning is as follows:
If we just test that woman in clinic for BRCA1 and BRCA2 mutations and the test is normal, we don't know whether this is because: 1) other family members have a detectable BRCA1 or BRCA2 mutation that she did not inherit (in this case, her cancer risk in the above scenario would be no different than that of any other woman) or 2) the early breast and ovarian cancer cases in the aunts might have occurred in the absence of any known BRCA1 and BRCA2 mutations (in this case, the test for the patient in clinic is not informative).
If the patient's aunts had a BRCA1 or BRCA2 mutation, then there is a 50 percent chance that her father will have it as well. Therefore, by testing him first, it can make the information gained by the patient's BRCA1 and BRCA2 testing more helpful.
As we move toward a future of more predictive and preventive medicine incorporating genetic/genomic information, there will continue to be tension at the intersection of the prevailing medical/reimbursement model that focuses on the patient and attempts to incorporate genetic information which is most often more valuable in the context of the whole family. Ironically, to realize the full potential of personalized medicine, it will be essential to resolve these impediments to care of the whole family.
