Dealing with Your DNA

In the silvery light of an overcast April morning, the examination room looks cold and anonymous. "This is where we conduct most of our sessions," Robin Bennett says, ruefully. "I wish we had a more homey place."

Here, in this unprepossessing room at the University of Washington Medical Genetics Clinics in Seattle, Bennett helps people work through some of the most life-changing decisions they will ever face. An internationally sought-after genetic counselor, she practices the science, and art, of educating and advising patients as they wrestle with the legacies of Alzheimer's, Tay-Sachs disease, familial cancers, and birth defects, and with reproductive questions.

Bennett, who was awarded the Natalie Weissberger Paul Lifetime Achievement Award from the National Society of Genetic Counselors in 2007, has won accolades for her published work and educational service. She has written two books, including The Practical Guide to the Genetic Family History, was president of the National Society of Genetic Counselors, and has served on advisory panels for groups such as the Centers for Disease Control and Prevention, the National Human Genome Research Institute, and the Institute of Medicine. She has also appeared on NBC's Today show discussing options for women with the BRCA1 gene for breast cancer. In 2008 Bennett received the University of Washington Distinguished Staff Award.

In person, Bennett projects an unusual combination of intensity and reassurance that inspires trust. Leaning forward in her chair in the beige examination room, she zeroes in on the human side of each question.

What kind of patients seek out genetic counseling?
I work with adult genetics, so I see lots of patients referred for neurological histories, muscular dystropies, heart issues, cardiac sudden death, family history of cancer, neuropathy, some psychiatric illnesses. Also couples who are worried because there's mental retardation in their family. There are more and more tests we can offer before a person gets pregnant to consider whether they're at higher risk for problems.

Genetics affects people at more and more points in their lives. Every newborn child has a genetic screening test; women who are pregnant are offered genetic tests. There are going to be a lot more genetic tests related to drug reactions--this whole field of pharmacogenomics, which targets drugs to a person's genetic makeup. You can figure out who will be harmed by the drug, and who will benefit from it.

How does a counseling session work?
When a patient comes in, the first thing we do is take a family history, where we plot out a family tree. You record their ages, their ethnic background, and the diseases of each individual. Often it goes back four or five generations. That's what my book is about--how to draw these family trees, what to include in them, and how to use this as a way of identifying possible diseases.

After you have all the information, you look to see whether the risks are different than you would expect. If you're talking about cancer, everyone has a relatively high lifetime risk of cancer, but is your risk different than what we would expect? Should we offer screening, like breast cancer screening, at a younger age?

We see a lot of families with Huntington's disease, where there is no cure. There's nothing you can do for it, and their children are at a 50 percent risk of inheriting Huntington disease. We go through and talk about what do you do with that information, what would it be like to be told that you have that increased risk, how would it change your life? And if that information is going to harm you, maybe you shouldn't be tested. Maybe you should wait until the information might be more meaningful to you, [perhaps] when you're ready to have children. We really want to make sure genetic information doesn't harm people in any way.

How long do sessions last, how many family members come in, and what's the cost?
Sessions usually last an hour, sometimes a little longer. Whether or not they come back depends. If somebody has a genetic test, they might come in to get their blood drawn, sign a consent form, then return for the results of the test. Sometimes we decide we need to test another relative in the family, so they might come back with a relative.

We have some families where we've seen twenty to thirty people. Often it's a parent, child, grandchildren. Our clinic has been here for fifty years, so we've seen three generations of families many times.

Counseling sessions run between $100 and $300.

What are the potential dangers of having information about incurable diseases? How do people deal with the information they receive?
Well, many people have overestimated their risk for a genetic problem, and the information is actually reassuring. But one of the most profound things that happens, which I think is a surprise in genetic counseling, is something called survivor's guilt. For example, in families with a high risk for genetic cancer--prostate cancer, breast cancer, colon cancer--people who test negative in that family, who don't have the predisposition, can feel guilt that they've survived this. I had one patient who told me, "I feel like I've left my family in a burning house and I'm standing outside of it."

Some of the more troubling counseling cases I've had--and it's been more than once that this has happened--is where you have a woman or man who has a strong family history of cancer, and when you tell them, "You don't have that gene change; you don't have that risk," they say, "That's the worst news you could have told me." They wanted to have the more intensive screening or preventive surgery because they can't live with any risk, because of how devastated they've been by the cancer that's occurred in their family.

Again, genetic counseling can tell people that these reactions are not abnormal.

What about people who do test positive for a genetic susceptibility? Do they begin to think of themselves differently, as perhaps ill already?
Yes, that's part of why genetic counseling can be so important. A genetic counselor can help people figure out their new perception of self, help them come to terms with it. There's a term some people have who test positive for the BRCA1 [a breast cancer gene], for example; they call themselves "previvors," instead of "survivors."

We always ask people, "What do you think your chances of developing this disease are?" The difference between a person's expectations and the outcome of the test is often more important than the results of the test, psychologically.

Does genetic susceptibility to a condition affect someone's ability to get health insurance?
Almost everyone is worried about that kind of discrimination. The cases of that are very few. In fact, most of the time insurance companies are willing to pay for genetic testing, because it's cheaper to pay for preventive measures. I think it's a tragedy if people don't have genetic testing because of this fear when the actual cases of genetic discrimination are few.

There was a television commercial that ran back in 2007 encouraging women to undergo genetic testing for the risk of breast cancer. Critics said promoting this kind of complex screening to the general population would create anxiety and overuse of the expensive test. How do we separate the facts from the hype?
I think there's a huge problem with the consumer marketing going on, and even more so with marketing to physicians, where they say, "What's the harm in ordering a genetic test? Why not do it?" Well, they can be expensive--most of them are several thousand dollars--although not all genetic tests are expensive. I also don't think people realize that many genetic tests have a high rate of uncertainty, so you can do a blood test and find out what we call a "variation of uncertain significance." For example, if you have the genetic blood test for breast-ovarian cancer, 6 percent of Caucasian women will have a variation of uncertain significance. If you're African American, it'll be 20 percent. If you're Asian, it's higher than that.

There's also the problem of false reassurance, where you do a blood test and you don't have a gene change, but you still have a risk of disease because of your family history, or they've done the wrong kind of blood test. They're marketing one kind of test for breast cancer, but there are others that test for other causes. That's why it's so helpful to see a genetic counselor, because we take a family history and really assess how high your risks are.

Some young women genetically susceptible to developing breast cancer are having preventive mastectomies. What is the prevailing wisdom among genetic counselors concerning such a course of action?
It's such a personal choice. If you have a change in a major gene, BRCA1 or BRCA2, your lifetime risk of breast cancer is probably in the range of 50 to 85 percent. It's not an absolute number. Now we have breast MRIs, so hopefully we can detect breast cancers at a more early, treatable stage, combined with mammograms. We have also learned that these women have a high risk of ovarian cancer, so if you remove the ovaries, not only do you reduce the lifetime risk of ovarian cancer, which is really a deadly cancer, you also cut the risk of breast cancer by half. I think a woman's choice really depends on the experience of breast cancer in her family. If a relative of yours had breast cancer and survived, you'll have a different experience, perhaps make different choices, than someone whose relative did not survive.

What about questions involving pregnancy and abortion? Are you troubled by the prospect of clients using genetic-background information to abort a fetus?
Most genetic counselors let clients know that people overestimate the risk of serious birth defects. So more people choose to have a pregnancy than use genetic information to abort a pregnancy. In the articles I wrote about first cousins marrying, I noted that when people were told the wrong information [that the children of first cousins were likely to have birth defects], many chose abortion; but once they heard the facts, they would make an informed decision about whether to have a pregnancy or not. I really feel seeing a genetic counselor opens the door to having the correct facts, making an informed decision rather than one based on hearsay.

There are some genetic counselors who see women who are having a routine pregnancy screening. There's testing done in the first trimester of pregnancy that can help identify conditions such as Down syndrome or spina bifida. I see mostly adults, as opposed to another whole set of genetic counselors who see the parents of children who have inherited problems.

Should everyone get genetic counseling? The main thing that would be a red flag is your family history. You should consider genetic counseling if there's a condition that's occurring in multiple people in the family, particularly if it's occurring at a young age--diseases like colon cancer before age fifty, childhood cancers, breast cancer in premenopausal women, or rare conditions like unusual types of cancer such as a sarcoma or adrenal cancers, people who have multiple cancers in a family, particularly if they're at a young age, any sort of history of birth defects, mental retardation.

Where is the field of genetic testing headed in the future?
I see this whole personalized medicine field really expanding, and I hope the science continues to advance behind that. There are new genetic tests coming out, from companies such as 23andMe, Decode, and Navigenics, where you can be tested at once for eighteen to twenty different susceptibilities. These tests can be an advantage for someone who was adopted, or whose family history information is limited. The intent is for prevention usage; you can look and see if your susceptibility risks for common diseases are higher or lower than average. That's the wave of the future. [Bennett is on the advisory board of Navigenics.] I hope our health care system learns what to do to address these slightly increased risks: Do you offer anything different to people? More directed treatment?

One thing you can do right now that may become more popular is DNA banking. If you have a relative or sibling who's very sick, you can get a blood sample and save the DNA from it. It's not a health benefit for that person, but it can give their relatives valuable information later.

I worry about the approach of genetics where you create people who feel superior to other people. There are certainly genetic differences in how people from different races respond to medication, and that can be abused. It comes down to education. Genetics continues to be a field where we have to learn from our history.

Back to Top DeliciousFacebook FacebookStumbleUpon StumbleUponDigg Diggreddit reddit