Counseling from a health care professional trained in genetics before genetic testing takes place may improve the quality of health care and help reduce unnecessary testing.

“Pretest genetic counseling in which a health care provider takes a thorough family history and discusses the potential risks and benefits of genetic testing is the standard of care as recommended by the American Society of Clinical Oncology and National Society of Genetic Counselors,” said Tuya Pal, MD, a board-certified geneticist at Moffitt Cancer Center, Tampa, Florida.

Researchers surveyed 473 patients who underwent genetic testing for hereditary BRCA1 and BRCA2 gene mutations. Almost all study participants (97%) who saw a board-certified geneticist or genetic counselor recalled having a discussion before undergoing genetic testing. Only 59% of study participants who saw a health care provider without training in genetics recalled having a discussion before genetic testing.


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“Health care providers with training in genetics are less likely to order expensive comprehensive genetic testing when less expensive testing may be appropriate,”

said Deborah Cragun, PhD, postdoctoral fellow at Moffitt.

Comprehensive testing included full BRCA1 and BRCA2 gene sequencing while less expensive testing looked at single-site or Ashkenazi Jewish founder mutation.

“Our study found that health care providers with training in genetics ordered comprehensive testing for 9.5% of participants, compared to other health care providers who ordered comprehensive testing for 19.4% of participants. At the time of data collection, comprehensive genetic testing cost approximately $4,000, compared to $400 for the less expensive testing.”