Questions from the Audience:

Q: Is there a correlation between CAG repeats and age of onset?

ZANKO: Some. In other words, the extremes, if there are repeats in the sixties, seventies, eighties, or more, I'm very concerned about very early, very severe, and sometimes juvenile onset of Huntington Disease. Overwhelmingly, the repeats that we find are in the forties up to the mid-fifties. The range of onset is all over the place. There have to be other contributing factors. We look at the family to see how the gene is expressing itself in that particular family, but even then, there are exceptions where one sibling is doing terribly in their mid-thirties and another sibling is working full time in her late forties. So there have to be other contributing factors, including genetic factors. We suspect that there are other genes that are affecting the expression of this gene. So, numbers of CAG repeats gives us some indication but I don't rely on it solely for prediction.

Q: What is the maximum fetal age for termination of a pregnancy?

24 weeks to legally terminate a pregnancy. Up to 24 weeks.

Q: What genetic tests are physicians allowed to do without referring to a genetic counselor?

Allowed to is an interesting question. There's no law here. There's no policeman who's going to come on the door and going to say, "Uh oh, you're going to genetics jail because you didn't." There are physicians who order tests all the time without informing their patients.

There are many tests that pediatricians can now order, that neurologists can order. It's a question of how we can help the physicians. And the more that they become aware of our existence and the time and our level of expertise in dealing with these issues, the more they want us involved.

Q: What about issues of informed consent?

There are definitely informed consent forms that need to be signed for Huntington Disease testing.

Q: Do labs call you when they get a request for some genetic tests?

ZANKO: That may definitely be the case. Huntington is the protocol for putting some labs in the position to be gatekeepers. In other words, my lab at UCSF, they're just absolutely wonderful people. I've known them for a long time and we have a relationship--they will not accept a sent in sample for HD from another physician unless it's got my name on it. If "Andrea Zanko" appears on the lab sheet, then Jeff Wall, our DNA guy knows that I've talked to the family. If my name isn't on the sample, he'll call me and he'll say, "Do you know so and so?" And I'll say, "Never heard of them." And then we backtrack, go back to the doctor, find out who the family is, and let them know, "Sorry, this family needs to be counseled first."

Right now Huntington and the cancer genetics people are using protocols. It really depends on the laboratories. Most labs are very cooperative and understand the gravity of the situation and they're incredibly wonderful and cooperative in working with us. It depends - some private labs are interested only in money making, they'll test for anything. So, it really is an awareness issue, an education issue, to let folks know that this is not finding out what your blood type is. This has major implications.

Q: What do you think is in the future for genetic testing?

You know, it's meant not to be frightening. It's meant to be healing. It has to do with trying to intervene in causative genes which we know can be extremely harmful, trying to understand that, trying to make a difference and trying to find treatments, interventions. We're finding that almost everything that we look at has some genetic component whether it be your personality, your intelligence, your sense of humor. So many things now people are suspecting have some genetic component.

I think that we have to keep our conscience and sort out what is useful information, what is not useful information and keep in mind that diversity and variability is how we survive. And the only way to keep our species going is to preserve variability. Gilda Radner was the one who said, "delicious ambiguity."

Q: Who financially supports this system of testing and referral?

How the whole system is supported? We are the least efficient, we never make money. We spend more time with families than anybody could ever possibly bill for. The HMO's and insurance, we have to plead our cases to get family coverage sometimes. And generally, what we need to do is have the primary care physician refer the family for genetic counseling because of an indicated risk. And then we can get coverage for our families but we have to show risk or an indication and we have to show that there's some value in what we're providing. I think it's a wide open issue and it's a question of preserving some humanity in the health care system.

Q: Are there schools or programs for becoming a genetic counselor?

There's now about 25 two year graduate degree programs. Some are three years.

Thank you for your questions.


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