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.

Up to 10% of cancers are inherited, and more tests are becoming available to identify those patients with gene mutations associated with an increased risk for cancer.  

“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, and senior author of the paper.

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Researchers surveyed 473 patients who had genetic testing for hereditary BRCA1 and BRCA2 gene mutations, which are associated with an increased risk of breast and ovarian cancers. 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. These findings suggest that there are large differences in quality of care among health care professionals who order testing. 

“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, lead author and post-doctoral 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.”

This study was published in Genetics in Medicine (2014; doi:10.1038/gim.2014.75).