Doctors play key role in new genetic age

Guiding patients through the evolving maze of information will play to primary care physicians' strengths.

By Susan J. Landers, AMNews staff. April 23/30, 2001.

Mapping Disease
As the results of the Human Genome Project began to shake out into clinical applications, this 2001-02 series detailed progress in the prevention and treatment of a variety of diseases and conditions -- both on the near horizon and possibilities far into the future.

Washington -- Patients are likely to turn first to their regular physicians for advice in interpreting the avalanche of information promised by recent advances in genetics. That would be a logical move, said Alan E. Guttmacher, MD, senior clinical adviser to the director at the National Human Genome Research Institute.

After all, genetic diseases by definition travel through biological families. "When you are doing a genetic test, you are also indirectly testing other members of the family," he said. "Or you are finding out information that is of some possible value to other family members."

Primary care doctors are more likely to be well-acquainted with their patients than are geneticists or specialists, he said. That knowledge could be put to good use in determining how best to discuss genetic testing.

"There are some women who, if one really wants to optimize the chance they will have an annual mammogram and do monthly breast self-exams, the best thing to do would be to demonstrate that they have a mutation that makes them more likely to develop breast cancer," Dr. Guttmacher said. And on the flip side: "There are some women who, if you wanted to make sure they never have another mammogram and never did another breast self-exam, it would be to prove they have a mutation that makes it more likely they will develop breast cancer."

Each patient will have a different reaction to the same information. Some value the warning provided by genetic tests, while others believe a test simply seals their fate. [...]