Pros and Cons of DNA Testing

A Chat with Joyce Graff, VHL Family Alliance, Sunday, March 5, 2000

Joyce Graff. We are here tonight to talk about the pros and cons of DNA testing. Lisa Tuttle, who was scheduled to join us tonight, is flying in from California and has probably met with some travel delays. But I’m here and willing to talk with you on this topic. In case you don’t know me, I edit the newsletter. My son has VHL, and my late husband died from VHL in 1977. So I’ve been dealing with VHL since 1962.

Canadian Chatter: My two children have had DNA testing. How accurate is this testing?

Ms. Graff: When were they tested?

Canadian Chatter: 1995 and 1999.

Ms. Graff: Did they first test other people in your family? Did they already know before they tested your children exactly where the mutation area is in the VHL gene in your family, or were they sequencing the entire gene?

Canadian Chatter: My husband already has VHL, so he didn’t need to be tested.

Ms. Graff: Well, there are two ways to do the testing, and they have different levels of accuracy. For greatest accuracy, they usually start with someone in your family who has a clinical diagnosis of VHL, like your husband. They would check his blood sample, and identify where the flaw is in his VHL gene. That gives them a "road map" to use for the next test. Then in testing your children or other people in the family, they don’t have to search up and down the gene for the problem, they can go right to that very spot and say ‘does she or doesn’t she’ have the same flaw? This "direct test" is quite accurate and can be done accurately at a large number of labs. If this were the type of testing used, then it is extremely accurate – in the high 99%’s, or essentially fully reliable.

If there is no other living relative with VHL, or if they have looked but were unable to find the mutation area in the gene, then they sometimes do a "linkage analysis". This was the only test available before 1993. Linkage analysis is not highly accurate, probably in the 70-80% range. We have heard stories of people who were told they had VHL who now find they do not, and also people who were told they did not have VHL who now find that they do have it. So if it were linkage analysis then I would suggested it might be a good idea to have the test done again to reassure you of the results.

U.S. Chatter: Is it a good idea to have you chilldren tested? I am reluctant to have my four children tested because of the dangers of misuse of this information. It is so hard to get insurance, I might never get them insured again.

Ms. Graff: It is true that cases of "genetic discrimination" have been reported, but I personally think that DNA testing gives you essential medical information that I would have been glad to have when my son was growning up.

U.S. Chatter: Is it legal for an insurance company to require you to get DNA testing?

Ms. Graff: It should not be. This is regulated state by state. Many states have already passed laws against genetic discrimination, but not all. It is important that we make sure our legislators hear from us why we think this is important. It is more dangerous than discrimination based on age, sex, and the color of one’s face. Everyone will have at least one "pre-existing condition" by 2005, as we learn more about genetic factors in disease. We can’t have employers, insurance companies, and others making decisions about our potential based on someone’s guess about what might happen to us in 20-30 years. Life happens! The healthiest person around could fall off a ski slope or have an automobile accident, and people with severe disabilities like physicist Steven Hocking (who is almost totally paralyzed with muscular dystrophy) continue to write books and contribute extraordinary value to society.

A great deal of attention is being paid in this country and others to the societal impact of the human genome project. Essentially we have to reshape society’s attitudes toward genetic issues. We have come a long way from the eugenics of the 1930’s, and there is a great deal more to be done.

U.S. Chatter: But even if I have the children tested in a research laboratory, I would have to disclose it to the insurance company, right? If I withhold that information it could be grounds for cancellation of the policy. So why would I want to put my children in jeopardy like that? Besides I don’ t know if I could bear to find out that my children had VHL.

Canadian Chatter: I am very surprised to hear this. I guess since I am in Canada, and was born in Europe, I take health care coverage for granted. I never worry about losing health care coverage. I never questioned that I needed to know as early as possible.

Ms. Graff: Yes, it is interesting to see the difference in these two attitudes. There is generally a very large difference between people who live in countries with universal health care, where DNA testing is very widely used, and people in the United States, where DNA testing could potentially be a stumbling block in getting health care coverage. It is a good example of one of the major impacts of the lack of universal health care coverage.

As far as knowing that your children have VHL, you could also find out that your children do not have VHL. I know families where four out of four – even six out of six! – do not have VHL. And I know families where the reverse is true. It’s like flipping coins. If you flip a coin six times, how many heads will you get, and how many tails? It will be different each time.

U.S. Chatter: But in my state, can my Health Maintenance Organization (HMO) force me to get DNA testing? They won’t do the scans, and insist on the DNA testing.

Ms. Graff: No, I don’t believe they can force you. I would encourage you to report as an abuse this to the Alliance of Genetic Support Groups. They keep a list of reported abuses, and advise Congress how bad the problem is. What do you mean about the scans?

U.S. Chatter: I asked them to do scans for my kids just in case they have VHL, and they don’t want to pay for the scans. They said they would pay for DNA testing. It all comes down to a question of money.

Ms. Graff: Ah, that’s true, but it’s not such a bad thing. Look at it this way. It costs about $250 to get a DNA test, and $1000 to get an MRI. It costs you 10 minutes to have the blood drawn for the DNA test, and hours to get the scans. Would you rather pay $1000 per scan per year, or $ 250 once? Would you rather worry through the process once, or worry through those wonderful scanning adventures every year for your child’s whole life? Just think of the wear and tear on your emotions, and the anxiety of your child? It’s more than a monetary cost difference.

U.S. Chatter: Sounds good if the answer is good, but what if the answer is bad? What if all four of my children have VHL? I wouldn’t want to know that!

Ms. Graff: As long as you don’t know, there’s a part of your mother’s heart that will worry about all of them anyway. I know that every time my son complained of a headache I had to calm down my very strong emotional reaction, take deep breaths, and go through my checklist of rudimentary neuro games to assure myself he didn’t have a brain tumor. Would you rather have 15-20 years of that kind of worry, or get some facts?

Chatter: What neuro games?

Ms. Graff: The kind the pediatrician does – play ball, walk a straight line, check that both pupils are the same size. It’s no substitute for a real medical examination, but it served to calm me down. I would ask him questions about his headache: where is it? What size is it? What color is it? If it were a fruit or a vegetable, what would it be? Then a couple of hours later, or the next day, ask those same questions again and see how the answers changed. Change is good, movement from one place to another is good, and usually the headache was gone the next time I asked.

Canadian Chatter: I knew I wanted to know their DNA status early. If the child did not have VHL, I could stop worrying about that one. If the child did have VHL, I could take sensible precautions. At five he has already had one round of scans and he did very well.

Ms. Graff: Children are quite flexible at young ages. Personally I think it’s much better to find out at a young age than at 15 or 18 when they are feeling defiant and unsure of themselves anyway.

Another chatter: Joyce, how did you find out your son had VHL?

Ms. Graff: My son is 27 now, so when he was little there was no DNA testing. The only option I had was to worry and be as watchful as possible. I had it on his chart with the pediatrician from the very beginning that there was VHL in the family, and I asked the pediatrician to watch for signs of any neurological issues. I also took him to an ophthalmologist from the age of four – a retinal specialist who had at least one other VHL patient, so that I had some confidence that he knew what to look for.

When my son was five the ophthalmologist told me that he had gotten a good look at the retinas, and that there was no VHL. If there were VHL, he said, he would have seen it by now. My son first asked me when he was five if he had VHL too, like his father. With the ophthalmologist’s declaration so recently received, I told my son that he did not have VHL.

On two other occasions from then to age 15 the ophthalmologist assured me again that he did not have VHL, and acted somewhat annoyed that I kept asking him when he had told me before that there was nothing there.

At 15, my son was feeling somewhat "geeky" with his glasses, and asked if he could get contact lenses. Since the retinal specialist didn’t do contacts, I took him to another ophthalmologist in town, one we had seen once several years before. Because he hadn’t been there for quite a while, they put him through a thorough checkup. I didn’t even remember that I had once told them about the VHL in the family. He came home with a note that he should see a retinal specialist.

I was devastated. My first reaction was anger and denial. I challenged the second doctor, and told him that only two weeks before our regular ophthalmologist had told us there was no VHL. He said there were two very small spots, and he wasn’t sure, but that given the family history he would advise we see the specialist. I put him in contact with the other eye doctor. They agreed that we should see the recommended specialist.

The retinal specialist confirmed the diagnosis of VHL. He treated the lesions with laser, and told us to come back in a year. I asked if any other tests would be recommended. He asked what I had in mind. I said that it had been nine years since my husband’s death, but that based on what I knew about VHL I would think that it would be good to do whatever non-invasive testing we could do to find out what ball game we were playing.

He referred us to a pediatric neurologist, who was wonderful. He played neuro games with my son and gave him a clean bill of health. He told us to come back in five years. Five years? I asked. Wasn’t that a bit long? Well, maybe three, he said. I mentally marked my calendar for two.

Two weeks later he called me back and suggested that we should probably also check the kidneys. He recommended an ultrasound, and that was the beginning of the long saga of my son’s kidney involvement with VHL.

So in sum, if I had had DNA testing available, would it have benefited us? It might not have made a big difference then because the scanning was not very good, but today I think it would make an enormous difference. You can use that knowledge to treat problems early and avoid the crises that are so very destructive.

Chatter: Can you get the testing done and keep the information from the insurance people?

Ms. Graff: You can sometimes get a research protocol to keep it off the record, but if you share that information with even one doctor it will get onto the record. Besides, as we discussed earlier, if the insurance were to find out that you knew and withheld the information, it could be grounds to terminate your policy. Much more important, though, I think this is essential health information. For example, if your child were in college and taken to the clinic with non-stop headaches and vomiting, would you want them to know that he was at risk for a brain tumor, or not? Personally, I want it on the record.

Chatter: At the cost of not being able to get insurance?

Ms. Graff: That’s why you NEVER LET THE POLICY LAPSE. The problems are around getting NEW insurance. Keeping the existing policy is generally not the issue. If you change jobs, use COBRA to keep coverage in force until the waiting period in the new policy passes by.

Chatter: May I ask a question unrelated to DNA testing?

Ms. Graff: Certainly.

Chatter: Do you find that many people with VHL become depressed?

Ms. Graff: Yes. There are two major categories that we see: depression as a symptom of a brain tumor or cyst, and depression following surgery.

Chatter: We have seen both of those in my husband.

Ms. Graff: Sometimes depression or another shift in someone’s personality can be an early sign of a brain tumor.

Another Chatter: I don’t think I changed at all when I had my brain tumor.

Ms. Graff: Not everyone experiences it, but if you see something like that happening, you should suspect that there might be a physical cause. I remember once feeling like I needed a marriage counselor, only to find within the next two weeks that what we needed was a neurosurgeon.

Chatter: My husband became very aggressive.

Ms. Graff: The other is very much like post-traumatic stress syndrome. After the VietNam war I remember reading an article about post-traumatic stress and feeling that finally I understood what my husband was experiencing. There is a great deal more recognition today of this kind of problem.

Another Chatter: Some doctors seem to think that everyone with VHL needs anti-depressants, no matter what!

Ms. Graff: Perhaps they are picturing themselves in that situation and wondering how they would cope. I remember after my son was diagnosed that I felt the need of a psychotherapist. I "shopped" for the right person. There was one woman who was very nice, but I felt I had to hold back even describing my history, much less my feelings, because I felt she couldn’t handle it.

Another Chatter: Sometimes the pills can be very useful. My mother was very despondent when she lost her second kidney. A few months on anti-depressants helped her a great deal.

Ms. Graff: That kind of short-term usage can be great. We had an excellent chat with Dr. Gary Wood recently. He said that anyone on anti-depressants MUST be monitored by a PSYCHIATRIST (an M.D.) at least once a MONTH while they are on these medications. All too often we see people being given a prescription by a general practitioner, and that I think is a mistake.

Another Chatter: My husband’s doctor told him that he shouldn’t investigate stereotactic radiosurgery because he didn’t feel he could deal with it.

Ms. Graff: Well, we all get to a point where we just can’t deal with any more. That’s why there are so many terrific partners in this community. Often the "unaffected spouse" will step in and do the research when the person in the hot seat can’t cope.

Another Chatter: My husband said that when he’s too confused I put it in plain English.

Another Chatter: My husband doesn’t want to hear too much about it, and doesn’t get deeply involved in conversations with my doctors.

Ms. Graff: Perhaps you can enroll a friend in being your partner. It doesn’t have to be your spouse.

There are a lot of doctors who believe that the patient can’t deal with too much, which is why they withheld information about "the rest" of VHL (the things outside their focus area) for all those years. You know, when we put together the Handbook in 1993 we wrestled with whether to tell people the whole scoop. Would we terrify them with things that might never happen to them? What we decided was that we had to warn them, because without that information they would not be able to defend themselves.

Chatter: I have to give you credit. Before we found the VHLFA my husband was very worried and scared knowing that he had several brain tumors. And then in the handbook he found where you talk about brain tumors as warts on the inside. He really liked that, and it calmed him right down.

Ms. Graff: I’m glad. What we are trying to do it to provide information to empower you to be better managers of your own health care. We are here to help you do that.

Another Chatter: It helps us to know when we are not getting good advice, and have the nerve to press for more and better information.

Chatter: We have to take charge of our own health.

Moderator: I think this is the end of tonight’s chat. Thank you everyone for coming!