NIH Expert Dispels Myths About Genetic Counseling

BALTIMORE--"Genetic testing may soon become another routine tool of medicine," Barbara Biesecker, MS, said at a Johns Hopkins conference on genetic testing for adult onset disorders. Making genetic testing routine will require training more professionals in genetic counseling and overcoming a number of myths that have accumulated around the field, said Ms. Biesecker, co-director of the Genetic Counseling Research and Training Program of the NIH’s Medical Genetics Branch.

Myth #1: Genetic counseling is simply an educational process--the provision of risk information to a client. In fact, Ms. Biesecker said, genetic counselors should be ready to explore the deeper meaning of the genetic information with patients and their families. Health care providers, for example, may tend to hear and answer the concrete questions patients ask while missing the emotional anxiety lying below the surface.

"Genetic counseling grew out of a medical model that has now evolved to encompass a psychosocial component," she said. "In some ways, it’s like short-term psychotherapy, and in some ways, it’s an educational process."

Myth #2: All clients will readily understand and retain the information presented. In reality, patients’ knowledge and comprehension of genetic testing and its results vary greatly. Ms. Biesecker recalled the case of one patient who, after listening to a detailed explanation of a genetic test, asked, "What’s a cell?"

In another case, a mother was concerned about her child’s bronchitis only to slowly realize that the counselor was talking about fragile-X syndrome.

Patients’ personal beliefs may further complicate their understanding of the test results presented. A woman being tested for a BRCA1 mutation may say to herself, "I look just like my mom, so I guess I’ll get breast cancer, too."

Myth #3: Clients will base important decisions like childbearing on statistical expressions of risk. In fact, she said, for some families, the burden of risk may be far more important than the percentages. For a family already caring for a child with congenital heart disease, for example, a 2% risk of the same ailment in future offspring may carry more weight than a 50% chance of some other disorder.

Is It Always Better to Know?

Myth #4: It is always "better to know." This myth is contradicted by the reality that people react differently to genetic information. Some patients really do want to know what their genes have in store for them, but others do not.

"Positive genetic test results," Ms. Biesecker said, "are not always the worst thing in the world, and negative results are not necessarily unadulterated good news, since other family members may not be spared."

Myth #5: Genetic information is always straightforward in its meaning. In reality, complicated tests and results are sometimes subject to ambiguity and interpretation. Thus, neither counselors nor physicians should make assumptions about the meaning of a test result or a medical condition to a patient.

Counselors must take their own biases into consideration. Since some diseases (like cystic fibrosis) are highly variable in their expression, genetic counselors must be careful not to over-interpret test results. Also, many hereditary disorders are "moving targets," with medical advances rapidly changing the outlook for prevention and treatment. Cystic fibrosis patients, for example, have more options and fewer limitations than they did 30 years ago.

Cultural values may subtly skew interpretation, too, given that 97% of all genetic counselors are young, white, and female. "The field can use more diversity to deal with a diverse patient population," Ms. Biesecker said.