Laird Harrison

October 27, 2014

SAN DIEGO — Physicians are more likely to take action in response to results from genetic testing if the patient has received genetic counseling, a new study shows.

However, an effort to educate physicians about the significance of the genetic data seemed to make no difference, researcher Kevin Sweet, MS, associate professor of genetic counseling at Ohio State University in Columbus, told Medscape Medical News.

Genetic testing is becoming more extensive and readily available, but it is not yet clear how the information it produces is affecting healthcare.

To explore that question, Sweet and his team followed 208 patients diagnosed with heart failure and hypertension who underwent genetic testing to determine their risk for age-related macular degeneration, coronary artery disease, hemochromatosis, melanoma, prostate cancer, systemic erythematosus lupus, type 1, type 2 diabetes, and CYP2C19, as well as clopidogrel response.

Sweet presented the findings here at the American Society of Human Genetics 2014 Annual Meeting.

Genetic counselors met with 102 of the patients, and 106 received no counseling on their results. "We wanted to see if genetic counseling had an effect on their behavior," Sweet explained.

The researchers uploaded the data to the patients' electronic medical records, so they were available to the physicians who enrolled the patients in the study. Twelve of the physicians were internists, eight were cardiologists, and 11 were family medicine practitioners.

The internists and cardiologists, but not the family medicine practitioners, recevied a 1-hour lesson on interpreting genetic information from the genetic counselors.

But Education Didn't Help

The researchers followed up by searching the physicians' notes in the electronic records for terms such as genetic, variant, and family history. They also looked to see if the physicians had taken any action in response to the genetic results, such as referring the patient to a dermatologist or ophthalmologist, or giving advice about lifestyle changes.

Physicians whose patients received genetic counseling were significantly more likely to take action than physicians whose patients received no counseling (32 vs 19; P = .0002).

However, there was no difference in action taken by physicians who got the lesson on interpreting genetic information and those who did not.

"Maybe these doctors already felt they were comfortable with the information," Sweet said.

Research makes a valuable contribution to the understanding of genetic counseling, said Catherine Brownstein, PhD, a genetics researcher at Boston Children's Hospital, who was not involved with the study.

"This is an incredibly important study because there are a lot of questions about what people are going to do with these data," Dr Brownstein told Medscape Medical News.

This study was funded by National Human Genome Research Institute. Dr Brownstein and Mr Sweet have disclosed no relevant financial relationships.

American Society of Human Genetics (ASHG) 2014 Annual Meeting: Abstract 2413S. Presented October 19, 2014.


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