Alzforum: Early-Onset Familial Alzheimer Disease -
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Published on: 5/28/2007
Last Visited: 10/23/2008
Interview with Jennifer Williamson
Alzforum: Early-Onset Familial Alzheimer Disease
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Interview with Jennifer Williamson
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Jennifer Williamson is a genetic counselor at the Taub Institute for Research on Alzheimer's Disease and the Aging Brain and the Gertrude H. Sergievsky Center at Columbia University, New York.
She sees families with neurogenetic disorders for which testing is available but that have no cure.
Her article, with Susan LaRusse, "Genetics and genetic counseling: recommendations for Alzheimer's disease, frontotemporal dementia, and Creutzfeldt-Jakob disease," is widely read among her colleagues (Williamson and LaRusse, 2004).
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Williamson: People with EOAD are left at sea with their overwhelming problems, with few resources available.
I see that in my practice.
At most Alzheimer Association meetings I have gone to here in New York City, there is always one person who has a family member with EOAD, and this person often feels that he or she does not quite fit in with the support group.
The person's issues are not the same because he or she is dealing with someone who is much younger, has young children, and faces different problems at home and with the care.
Then there are the genetics issues.
Families with frontotemporal dementia are similarly left out.
ARF: How often do you see people with eFAD?
Williamson: I rely on the physicians in our Alzheimer Disease Research Center (ADRC) to let me know when they have a family that could benefit from genetic counseling.
I see about a dozen a year.
ARF: Why is it important to have genetic counseling in this situation?
Williamson: If genetic testing is on the table, the implications are not only for the patient but for the siblings and the children.
The patients and their primary support person, usually the spouse or a sibling, both need to be informed of what the implications are of having such a diagnosis before genetic testing occurs.
ARF: What protocol are you using?
Williamson: We follow the model for Huntington's disease genetic testing (see sample protocol).
For symptomatic people, it requires that they first have a clinical diagnosis by a neurologist.
Then it requires multiple genetic counseling sessions with a genetic counselor and neurologist prior to testing, and potentially a meeting with a psychiatrist or our social worker here at the ADRC.
For presymptomatic testing, for example if we have a symptomatic patient with a PS1 mutation and he or she has a sibling who wants testing, we require that they follow a set protocol of genetic counseling, a visit with a psychiatrist, a neurological and neuropsychological evaluation, blood draw, etc.
I do predictive testing for HD more frequently than for AD.
In my experience, many of the eFAD families are willing to participate in research but they do not necessarily want to know their own genetic status.
ARF: Is there a consensus protocol that genetic counselors tend to adhere to, or is every center following its own?
Williamson: A bit of both.
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Williamson: In my experience, clinical geneticists support the need for genetic counseling by genetic counselors more than neurologists.
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Williamson: Some initially resist the idea of multiple counseling sessions.
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Williamson: For example, whom do you tell?
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Williamson: Yes, access is a problem, considering that most people do not live near an academic medical center.
ADRCs may offer this because they have the resources.
They have psychiatrists and social workers on staff, and if they do not have a genetic counselor they could call on one from a clinical genetics group.
ARF: Not even all ADRCs have genetic counselors?
Williamson: No. Remember that eFAD testing is not yet frequently done.
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Williamson: No.
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Williamson: We disclose the result.
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Williamson: I have trained with one of our social workers in HD, who adapted her experience with adoption to talk about genetic disease.
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Williamson: I advise that they need to tell them.
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Williamson: I leave that up to the family.
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Williamson: It depends.
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Williamson: We need a confirmed mutation in an affected individual to do genetic testing in an asymptomatic relative.
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Williamson: Number one: Jump into testing without proper informed consent and genetic counseling.
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Williamson: Life issues do.
Recently I had someone who called me to say, "Now I know I did the right thing to leave work."
It was so hard for him to give up being the breadwinner.
He felt irresponsible leaving his job.
Getting the result affirmed his decision.
It offered some level of acceptance and proved it was not his fault.
He needed an objective result to solidify the clinical diagnosis and accept the doctor's advice.
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Williamson: Yes, predictive testing has a greater risk for adverse psychological events.
I don't have people knocking down my door for predictive testing.
They know this will be hard, and many do not go beyond the first counseling session.
ARF: What fraction of candidates choose predictive testing?
Williamson: In 8 years, I have done plenty of counseling, but few people went through with predictive testing.
ARF: Why not?
Williamson: Because there is no intervention.
Maybe it is the way I present it in the counseling.
The way I present it is, There is no prevention; there is nothing we would do differently once you know.
ARF: What if you told them there is a prevention trial of an experimental medicine that you could enroll in?
Williamson: As soon as we have something real to prevent the disease, predictive genetic testing for AD will be truly valuable.
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Williamson: We hear from many people, late-onset or early-onset families, that they are willing to take the test and participate in research but do not want to know anything.
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Williamson: Yes, and there are good reasons for that.
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Williamson: Oh, yes.
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Williamson: It is a very individual decision.
Some come via research, find out that testing is available, and later we see that initially eager person who was going to get the whole family tested backpedal as the others break away.
I do see siblings try to make the decision together when the question is, Should we get mom/dad tested?
ARF: How does coping differ by age and stage of life one is in?
Williamson: I have less experience on that with eFAD than with HD.
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Williamson: For HD yes, for eFAD not yet at our center.
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Williamson: That happens all the time in my HD group.
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Williamson: I see that, too.
People talk about how having this disease in the family has made them more compassionate.
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Interview with Jennifer Williamson
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