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 NIHs
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, its like short-term psychotherapy, and in
some ways, its 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, "Whats a
In another case, a mother was concerned about her childs
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 Ill 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.