GENETIC TESTING: DO YOU REALLY WANT TO KNOW?
When I was a third-year medical student, I couldn’t wait to listen to hearts, palpate bellies, and tap reflexes. But my classmates and I were restrained from using our stethoscopes and reflex hammers until we became adept at the art of talking to the patient. We soon learned that a complete medical history could predict a diagnosis in eight out of ten cases, and that an integral part of that medical history was the family history.
In the years since, advances in genetics have made detailed family history more important than ever. But not all doctors nowadays have the time or the interest to review their patients’ family history. In one study evaluating the medical records of patients at a university-affiliated clinic, only 13 percent of the records noted a positive family history for alcohol problems, whereas telephone interviews with the patients found that 40 percent reported a family history of alcoholism. If your physician doesn’t ask about diseases that run in your family, be sure to speak up.
SHOULD YOU SCREEN YOUR GENES?
Not long ago, a 39-year-old woman informed me that her sister recently underwent a mastectomy for breast cancer. Knowing that the disease runs in families, this woman wondered whether she and her mother should be tested for the BRCA1 and BRCA2 gene mutations. If either defect is found, their chances of eventually developing breast cancer would rise to as much as 85 percent, and their risk of ovarian cancer would climb to nearly 30 percent. What would I advise?
My advice for everyone considering genetic testing is first to undergo genetic counseling. Genetic counselors are trained to analyze your family history and evaluate your risk of developing or passing along an inherited disease. They can also help you determine whether testing is warranted. Genetic tests are only for people whose family history puts them at especially high risk of having a genetic defect. And even high-risk individuals don’t always obtain conclusive answers or greater peace of mind.
In my patient’s case, for example, both she and her mother tested positive for the BRCA 1 mutation. My patient took the news well, and she’s resolved to make regular breast-cancer screenings a priority. Her mother reacted very differently: She blamed herself for passing the gene to her daughters, and she jnay now need psychological therapy to cope with her guilt feelings.
SEEKING WISE COUNSEL
If you opt for genetic counseling, the counselor you work with should have at least a master’s degree in genetic counseling, plus certification by the American Board of Medical Genetics or the American Board of Genetic Counseling. The National Society of Genetic Counselors can give you the names of genetic counselors in your area. You can also find a counselor by contacting a local hospital or the nearest university-affiliated hospital or medical school. Be prepared to do your own legwork rather than count on your doctor for a referral. According to a recent survey, 20 percent of internists in one state weren’t even aware whether genetic counseling was available in their area.
Genetic counseling is advisable if:
• Your family history indicates a suspicious pattern of disease involving immediate blood relatives (parents, siblings, and children) or other close kin (grandparents, aunts, uncles, and first cousins).
• You’re planning to become pregnant and are at increased risk of passing a genetic disorder to your baby. Individuals at increased risk include women who conceive at age 34 or older; individuals with a known genetic disorder; parents who’ve previously given birth to a child with a genetic defect; and members of certain ethnic groups with an increased incidence of an inherited disease.
If genetic testing seems to make sense in your case, be sure to think through the drawbacks as well as the benefits before making a decision.
THE BENEFITS OF TESTING
• You can stop worrying. Learning that you don’t carry the family curse can take a load off your mind. A negative result can also save your relatives needless screening tests.
• You can stay vigilant. A positive result can motivate you to seek more frequent screenings for signs of the disease at an early, treatable stage. It may also prompt you to try reducing risk factors within your control, such as smoking or obesity.
• You’ll be better prepared. If the news is not good, and a bad disease is inevitable, you’ll have the opportunity to do some advance planning, such as having your children checked, taking those trips you always wanted to take, or perhaps writing your memoirs.
THE DRAWBACKS OF TESTING
• You may not be able to do anything about the results. Simply knowing that your family history puts you at high risk for a disease should provide ample incentive for intensified prevention or screening. However, for some diseases there may be little or nothing you can do.
• You’d still worry. Having a genetic defect doesn’t mean you’ll necessarily get the disease; depending on the defect and the disease, your risk may range anywhere from slightly higher than normal to virtual certainty. Either way, the test result can be emotionally devastating. It can push some people into depression, which can then pose a greater threat than the genetic disorder itself.
• You risk discrimination. Medical secrets are hard to keep; employers or insurers have ways of finding out. Some states have passed antidiscrimination laws, but such protection is not foolproof.
Health handbook introducing you to read the article: SYMPTOMS THAT ARE SCARY BUT NOT SERIOUS
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