This article originally appeared in October 2015.
Guidelines for Genetic Testing Aren’t Working
As anyone with any knowledge or affiliation with Huntington’s disease knows, predictive testing to determine if one has the genetic mutation (and anyone with a parent with the disease has a 50% chance of inheriting it) is not a decision entered into lightly. Regardless of the outcome, the implications of learning whether you carry the mutated gene are life altering.
Guidelines for genetic testing for H.D. were developed in 1994 by the U.S. HD Genetic Testing group. Most HD Centers of Excellence (COE) closely follow these guidelines, even though the guidelines specifically state “…It is important to emphasize that these are not intended as rigid rules but rather recommendations to guide and inform practice, based on current evidence and expertise.” (Emphasis added by author.) It’s my experience that Centers of Excellence do not view these as guidelines but as rigidly inflexible rules, directly countering the guidelines.
Some background information about me may be contextually useful here. My father was diagnosed with Huntington’s disease in his early 70s. At that time, I reached out to a family friend who was a genetics counselor to learn more about the disease I had not heard of prior to that point. In addition to speaking with her at length, I spoke extensively with my father’s neurologist and attended all of his appointments at which I asked numerous questions. Following his diagnosis, I followed every story provided by my daily Google alerts on the topic, and as an employee of a large university, regularly requested academic articles and research papers on the topic. I meet with a neurologist at a COE facility annually for a neurological evaluation. I met with a neuropsychologist for testing. I attended HD support group meetings and fund raisers and, disappointingly, found a number of well-meaning, but not particularly effective advocates in the HD community. Three months after mentioning to an HD board member about a new program emerging at a local hospital, this person sent me an email to the effect of, “You were right about this new program.” As someone not serving in an official capacity, I was dismayed to think I was more knowledgeable about emerging developments in the HD community than the “officials” were. Suffice it to say, I’ve gathered a great deal of information about the disease and feel fairly knowledgeable about the disease and the research in progress.
It is now six years since my father’s diagnosis, and I finally feel ready to test to find out if I have the gene. The COE recommendation states, “REC 6.2: Neurological examinations (if possible) and psychological appraisal are considered important to establish a baseline evaluation of each person. This however is not a requirement for participation in predictive testing. COM 6.2: Refusal to undergo these and other additional examinations will not justify the withholding of the test from participant.”
I contacted two COE facilities, both of which told me I would need to meet with a genetic counselor numerous times, meet with a neurologist, meet with a neuropsychologist, and participate in a number of other required steps, including a blood draw and follow-up. (And I found it funny that one of them, when asked about their anonymous testing program, inaccurately told me I had to bring in a prescription for the test and then again when I showed up for the first step, requested my ID and insurance card. So much for anonymity……) “In general, it is good clinical practice for the counselling team to suggest that other physicians involved in the participant’s care be kept informed about the test and the result. If the participant objects, his/her view should be respected except in the most exceptional of circumstances.” The whole point of testing at a COE is to preserve anonymity. “Should be” should be a “must be,” except in rare circumstances.
My question with regard to all these required appointments is, “Why?” There is no way at this time that in the course of a normal one-hour appointment, a genetic counselor is going to tell me anything useful that I don’t already know about the disease, and truthfully, if I had a question, I would pick up the phone and call our genetic counselor friend. Are these Centers of Excellence not familiar with this recommendation or opting not to follow it? The time for meeting with a genetic counselor is when you know nothing about the disease, not when you’ve lived with it via a loved one or ones for 1, 5, 10 or 20 years, once you’ve decided it’s time to learn your fate. As many people know, this is a rare disease, numbering in various places from a few to tens of thousands of people in the U.S., and it’s a minority of those at-risk that choose to be tested, so the guidelines should allow for some flexibility based on the potential number of people impacted.
I’ve heard it stated that the reason one needs to meet with a neuropsychologist is to determine one’s emotional state of mind to evaluate whether he or she could handle a positive result. Based on the high suicide rate associated with this disease, my guess is this is (sadly) not a strength of the program. To me, this requirement feels more like it’s a step to protect the center rather than to benefit the patient. Additionally, the idea that a healthcare professional has the ability to deny my right to know about my own health and the necessary planning required for either outcome is just wrong.
Also, in an effort to maintain anonymity, at-risk individuals must pay for all these visits, which are ultimately not reimbursable either by insurance, health care flex spending, or on one’s taxes, out of pocket. (See REC 2.2: “Each participant should be able to take the test independently of his/her financial situation.”) By requiring a multitude of appointments, regardless of an individual’s background or knowledge of the disease, the out-of-pocket expenses range from approximately $350 to $1,000 or more. Who does this serve?
Another recommendation in the guidelines states, “REC 3: The participant should be encouraged to select a companion to accompany him/her throughout all the different stages: the pre-test, the taking of the test, the delivery of the results and the post-test stage.” The closest COE to me is about 30 miles away, and based on conversations I have had with others at-risk, that’s pretty close on a relative basis. I know people who are hundreds of miles away from a COE. Is it reasonable to ask a friend (because family members are discouraged in this role) to take 3-6 days off work to accompany someone to these appointments? Furthermore, should the result come back positive, one wouldn’t even have the luxury of focusing on his or her own results, because he or she would be concerned about his or her friend, who has just learned the at-risk individual has a terminal illness. Who does this serve?
While I completely disagree with the processes in place for at-risk persons, due to a need to know, I finally just decided to go get tested at a COE. I made my appointment, went with cash to cover the cost of the appointment (even though they couldn’t give me a specific dollar amount for the first appointment), prepared myself mentally for what I was about to embark on, and showed up at the office for my appointment. I waited, and I waited, and I waited some more. I had taken a day off work for this appointment, and the person I was supposed to meet with couldn’t manage to keep our appointment? I left wondering what are the standards for “Centers of Excellence” and believing it to be little more than a marketing term. As a matter of disclosure, I’ve now been to two COEs. My experience has been one of bureaucratic red tape. My father, on the other hand, was diagnosed by a wonderful neurologist. When we went in for his appointment, we had no knowledge or family history of HD. This neurologist, who has since retired, requested the HD test. There was no appointment with a genetic counselor, no psych evaluation, no consecutive required appointments. Truth be told, my dad was far better served by his unaffiliated neurologist than I have been by the two COEs I’ve met with.
Was this the point of the testing guidelines and of the COE designation?