Genetics counselors will have expanded role

Unprecedented number of tests, therapies expected

With the completion of the Human Genome Project next year, new genetic therapies and diagnostic tests will become available on an unprecedented scale. Experts predict that genetic information will completely revolutionize health care in the next century.

Hospitals that want to keep up will have to do more than stay abreast of scientific advances. They must have a staff prepared to explain genetic information, testing, and therapies to patients, helping them make choices and be aware of the far-reaching consequences.

"As we have a better understanding of the genetic bases of common disorders — heart disease, diabetes — as well as what we now think of as genetically linked conditions, there will be an increased need for institutions to have genetics counseling programs and risk assessment," says Stephanie Kieffer, MS, CGC, co-chair of the ethics subcommittee for the National Society of Genetic Counselors. "Centers are going to have to have resources available to interpret the results accurately. Genetic counselors are the most qualified to address those issues," she says.

Although physicians have the capability to order genetic tests, many do not have sufficient knowledge to adequately screen which patients need testing or, for those who are tested, to correctly interpret the test results.

"There are people who get referred to me inappropriately," says Judith Berkendorf, MS, senior genetic counselor and professor of obstetrics and gynecology at Georgetown Medical Center in Washington, DC. "For example, a woman who is very anxious about breast cancer because both of her grandmothers had breast cancer, and they both had it in their 70s. She doesn’t come from a hereditary breast cancer family. So, to be tested for the BRAC1 gene or BRAC2 gene is not going to be a good test for her."

Physicians need to work with genetic counselors to develop a better understanding of genetic risk assessment and testing, and counselors should be available to work with the physician and the patient when the situation exceeds the physician’s expertise, Kieffer and Berkendorf say.

"Testing really needs to be a team effort. There really need to be genetics counselors involved in the team, even if the genetics professionals aren’t even seeing the patient," adds Berkendorf.

"They should be involved in designing a good pre-test education and counseling program, and there need to be counselors involved in deciding what is going to be done with the results post-test," she says.

Providers need more genetics sensitivity

Working in tandem with genetics counselors can help physicians and other providers begin to screen for possible genetic involvement in disease processes and appropriately recommend patients for possible diagnostic tests.

"Health professionals need to become much more genetic-sensitive when they take family histories, to watch for clustering in the same lineage of families," says Berkendorf. "They should look for things that appear unusually early — that is kind of a hallmark for genetic diseases. We are seeing things striking much earlier. We are seeing cancers with an onset in the 20s, 30s, and 40s, as opposed to [age] 72. Look for clustering of things in the same lineage and, especially, any of these adult onset conditions very early."

For many genetic tests now available, there are clinical guidelines for ordering tests in patients meeting specific criteria, Berkendorf says, illustrating an area of expertise for genetic counselors.

"Many providers need a better understanding of when testing is applicable," she says. "There are some risk assessment programs that are modeled probabilities that are available for breast cancer. There is one that is known as the GAIL model, which takes into account the woman’s reproductive history, whether or not she has first-degree relatives with breast cancer, any breast biopsies she has had. It develops a new baseline of risk adjusted to the general population due to those factors."

In the future, there will be more modeled probabilities for which patients will be most helped by diagnostic genetic testing. "So, people can come in for a risk assessment, and many times a well-thought-out or well-done pedigree can allay a lot of fears," she explains. "For some patients, testing is not even appropriate."

Genetics professionals also are acutely aware of the unique effect that knowledge of genetic information can have on the patient’s life. "There is no other testing in medicine that gives you information that isn’t only about your own health, but is about your future health and the health of your close relatives," Berkendorf advises.

Patients also must consider the possibility that information will be released to employers and third-party insurers. "There is a very real fear of the potential for discrimination, the loss of health insurance, loss of a job," she says. "Once the lid is taken off the box, you can’t put it back on. You can’t go back to when you didn’t know. Genetic counselors help patients decide, What are you going to do with this information? How are you going to feel about it?’"

As more and more genetic markers for common chronic diseases become available, counsel ors involved in prenatal testing may get requests for prenatal diagnosis for those markers, says Virginia Corson, MS, genetics counselor in the prenatal diagnostic center at Johns Hopkins Hospital in Baltimore and former president of the American Board of Genetic Counseling.

"Down the road, you may have the occasional patient who requests prenatal diagnosis for a late-onset disorder [as opposed to testing for potential birth defects]," she says. "As a group, people need to decide if they are comfortable or willing or uneasy about providing that."

For example, a patient may have seen her mother die of breast cancer and request a prenatal diagnosis to determine whether a female fetus would carry the mutation on BRAC1/BRAC2 genes that are linked to breast cancer.

"We have provided it for something like Huntington’s disease, which is a late-onset disorder," notes Corson. "Obviously, breast cancer is already here. You could, conceivably, do prenatal diagnosis for that as well. I don’t know if anyone has done that."

Another key role for genetics counselors will be in aiding institutional review boards (IRBs) in developing appropriate informed consent procedures for participants in genetic research, says Berkendorf. "There are myriad issues when it comes to patients participating in research studies. Just in terms of what is on the consent form. What is the study looking for? Is the sample going to be used once? More than once? How is it going to be shared? Is it ever going to be shared in the future? Are the samples anonymous or will there be identifiers? How is the information going to be published? Under what conditions will the participant get information from the study?" Participants should ask all of those questions before agreeing to a research protocol.

Some IRBs have designed informed consent forms specifically for genetics research, adds Berkendorf. "I think there is a real place for a genetics counselor on an IRB."

Finding genetics counselors

Some experts worry there will not be enough trained genetics counselors to meet the future need, but Kieffer disagrees. "I think that the advances are coming about gradually, and the programs will expand to meet the need."

Currently, there is national certification for genetics counselors through the Wallingford, PA-based National Society of Genetic Counselors, which offers a certification exam every three years. There are 22 master’s-level educational programs also certified through the NSGC. "This accreditation is phased in; some programs have new program status, interim program status, or full accreditation," Corson says.

At this time, there is no state licensure for genetics counselors.

Suggested reading

- McKinnon WC, Baty BJ, Bennett RL, et al. Predis pos ition genetic testing for late-onset disorders. A position paper of the National Society for Genetic Counselors. JAMA 1997; 278:1,217-1,220.

- Gellar G, Botkin JR, Green MJ, et al. Genetic testing for susceptibility to adult-onset cancer. The process and content of informed consent. JAMA 1997; 277:1,467-1,474.

- Berkendorf JL, Reutenauer JE, Hughes CA, et al. Patients’ attitudes about autonomy and confidentiality in genetic testing for breast-ovarian cancer susceptibility. Am J Med Genet 1997; 73:296-303.

Virginia Corson, Johns Hopkins Hospital, Prenatal Diagnostic Center, 600 N. Wolfe St., Baltimore, MD 21287.

Stephanie Kieffer, Medical Sciences Building, Room 853, Gather Clinic, University of Alberta, Edmonton, AB, Canada T6G2H7.

Judith Berkendorf, MS, Georgetown Medical Center, Department of Obstetrics and Gynecology, 3800 Reservoir Road N.W., Washington, DC 20007-2197.