Moving Forward

Post written by Dr. Bradley Hiner

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Some of you may have heard of this: there is a high-tech, “personal genetics” company called "23andMe" in California that wants you to spit in a cup, send it to them and for a fee will run a series of genetic tests on your DNA (we all have 23 chromosomes, hence the name). It is being pitched as “helping to advance the cause of science”, and is being sponsored by the Michael J. Fox Foundation no less to “help find the cure for Parkinson’s”.

My opinion? Let’s slow down and take a look at a few details:

1. Bear in mind that this is a privately held company that will now have possession of your DNA, and can do whatever research in the future they want to. It can be stored in perpetuity, and used for whatever purposes they want.
   
   
2. One of the co-founders of the company is the wife of Google co-founder Sergey Brin. Google is an investor in the company. Google may be many things (like a great search engine) but do you want them owning your DNA?
   
   
3. A few basics about genetic testing in Parkinson’s:
   
   
   1. While there have been genes discovered that are associated with PD, the fact is that the vast majority of patients do not inherit it nor do most cases “run in families.”
      
      
   2. The known genes that may cause PD are quite rare, and even in those cases, there may be a difference in gene expression, something known as variable penetrance and expressivity. That means even if you are one of those rare individuals who have the gene, there’s no way of knowing if or how it will be expressed.
      
      
4. So you spit in the cup, pay your money, and wait patiently by the mailbox. In the mail some time later you receive an official print-out of your genetic profile. Let’s say you are positive for one of the genes known to cause PD (for example, LRKK2). Now what? Is there anything you can do about it? Is it going to change your treatment? Are you now going to disclose this information to your family, so they can worry about inheriting it? How far along the family tree will you have to alert people? How is this information going to affect your children, and their children? Will the grandchildren need to be worried about it?
   
   
5. The fact is, until we have a treatment that is “neuroprotective,” i.e., can prevent Parkinson’s disease and its progression, there is little to no value for you, the patient/consumer to have this kind of information. Maybe someday, but not now.
   
   
6. Finally, the test will be scanning your genes for many things, not just those related to PD. What are you going to do if you get unanticipated results, or results that you or your primary care doctor are not equipped to interpret?
   

The company promoting this testing themselves admit the following:

"The decision to learn about your genome, however, is a significant one deserving of serious thought. Currently there is no targeted therapeutic response to learning that you have a specific genetic variant linked to Parkinson's, and such treatments require additional research. You may also discover other unexpected health information unrelated to your PD status. While we think you should take this decision seriously, we also believe that the choice to discover this information is yours to make."

In patients with Huntington’s Disease (unrelated to Parkinson’s), we have a very specific genetic test that can predict with certainty whether or not you will get the disease. This information may be important from the standpoint of family planning, for instance. But very strict guidelines have been set up such that this information is handled very carefully, so that if the test is positive the patient and family are not left on their own to deal with it. Imagine getting test results in the mail and trying to come to grips with it while standing at the end of the driveway in front of the mailbox.

My opinion? Over-the-counter genetic testing is a bad idea. Genetic testing will almost certainly have a greater and greater impact on medical care in the future. We are hearing phrases like “personalized medicine” in this regard. Already tests like those for certain types of breast cancer (“BRCA1”) or Huntington’s disease have substantially affected decision-making for individual patients and their families. But these circumstances involve professionals like medical geneticists and other skilled health-care providers who can take that information, interpret it and help the patient make informed decisions and deal appropriately with it.

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The following is feedback received for this blog: Hi Bradley, I have found the exact opposite to be true with respect to my 23andme experience. I am treated at Froedtert Hospital for Dysautonomia and Orthostatic Hypotension. Through my genetic testing I have been able to see a list of medications and my possible response to them based on my genetics. This is helpful when you are chemically sensistive. 23andme also has an option to keep your DNA completely private and not used for any type of research if you so desire. I am hopeful that through this process a common genetic link of some type may be found in common with others who have the same diagnoses as I do and eventually new clinical trails or treatments may be developed to help perhaps not myself, but others who are diagnosed in the future. - Liza W.

An Interview with Drs. Blindauer, Hiner and Hung about couples and communication.

Question: When you think of Parkinson’s patients and their spouses that appear to be coping well, what do you think they are doing right?

Blindauer: The partners that cultivate patience — that let the spouse with Parkinson’s speak for themselves even though it may take more time — seem to project the kind of mutual respect that then gives others a cue as to how to interact with the Parkinson’s patient.

Hung: Couples that retain a sense of humor seem to do better. One patient reports falling and in an effort to help him up, his wife fell on top of him. When they realized that neither was hurt, they were reduced to laughter at the situation.

Hiner: I have a patient who has one of the Parkinsonisms — a disease that starts out looking like PD but progresses more rapidly, is not responsive to medication, and affects many aspects of the autonomic system. This man and his wife developed a practice — something they had never done before in their 30 year marriage — of having a morning and evening “touch base” session. They review what each will do that day. Why that might be inconvenient or challenging for one or the other. They touch on something they’ll look forward to that day. And then they literally touch — hold hands, hug, kiss. Touch communicates love when words and events can’t do it. Every evening they review the day, sometimes apologizing for a lost temper or a disappointment. It has almost become a spiritual practice.

Hung: I agree. Frequent, honest communication beats storing up frustrations and resentments and fears and then exploding.

Question: What do couples resist doing that you think could be helpful in coping well?

Blindauer: Many of my patients wait, almost too long, to accept outside help. The care partner’s own health can be compromised by the physical and emotional burdens of providing care. So many people say, in effect, yes, adult day services, respite care, home health care sound perfect ... for somebody else. My spouse just wouldn’t accept it. That’s were the communication comes in. Sometimes a patient must be asked to do something that they may not really want to in order for the spouse to get some help and relief.

Hung: Generationally, there are patients who have very strict rules about the roles of husbands and wives. If those husbands say, “I don’t want your cousin coming over to stay with me. I want YOU,” the wives often acquiesce. Sometimes wives don’t like to admit that they can’t do everything for their husbands anymore.

Hiner: And yet I have patients who have talked through the facts and compromised on a plan. For example:

Fact 1) It is no longer safe for you to be alone.

Fact 2) I cannot stay with you 24/7 and indeed I can’t provide all the physical and social help that you need.

Fact 3) My own physical, emotional and social health must be cared for, too.

I find these issues are similar irrespective of whether the husband or the wife is the person with Parkinson’s.

Question: When you think of particular Parkinson’s patients and their spouses who do not appear to be coping well, what do you observe?

Blindauer: First of all, people, relationships, marriages don’t suddenly change for the better because a chronic illness appears. Couples that had communication problems or simply “didn’t get along” don’t start to get along when Parkinson’s enters the picture.

Hung: Statistically, newer marriages — young onset patients — have a much higher chance of going through divorce than the rest of Parkinson’s patients because the couple doesn’t have the history — good or bad — that holds them together.

Hiner: I often refer couples who are struggling — young onset or older couples alike — to some form of therapy/counseling.

Blindauer: I notice that caregiving wives are more likely to take advantage of counseling and our Caregiver Support Group than husbands do. I think it has to do with the ways that men and women deal with stress.

Hung: Yes, studies show that women handle stress by sharing with other women. In tough times, you will find women gathered around the coffee machine at work or in the kitchen at family gatherings sharing, venting, etc. Men tend to try to be stoic. They may view the use of a therapist as a kind of failure.

Hiner: Sometimes I feel that men avoid couples therapy because they think it will be a session in which they will be “blamed” for things. Therapy should be about resolution not finger-pointing.

Question: What other factors do you think are involved in the topic of Parkinson’s and couplehood?

Blindauer: I think that as the disease progresses, an extended grieving process can take place: grief for the loss of certain abilities; grief for the loss of the “plans” a couple may have had that can’t be realized. While the patient is grieving for what they used to be — runner, preacher, dancer, socialite, lawyer, etc. — the spouse is grieving too for the loss of their spouse as they knew him/her to be.

Hung: The spouse may feel like they don’t have a “partner” anymore. They may resort to nagging about “standing up straight” or “talking loud.” Women don’t usually know how to caregive in a way other than the way they cared for children. It’s instinctual. That is not an appropriate approach with an adult.

Hiner: When cognitive changes are part of the equation it becomes even more difficult to see the patient as the same individual that the caregiver knew and married. For the most part, I believe that the goal of respectful understanding between spouses is most readily achieved when open communication is practiced. If that doesn’t come naturally, a bit of outside help through support groups and counseling/therapy is called for. We are happy to make referrals to those resources.

Blindauer: And couples need to know, it’s OK to “take a break” from each other for at least a few hours every week. The person with Parkinson’s and the care partner are still unique individuals who need to socialize with friends, participate in hobbies, go to the barbershop or beauty parlor — refresh themselves.