ACOG advocates cascade testing for hereditary gene mutations

January 2, 2018

(HealthDay)—Obstetrician-gynecologists should be aware of who is eligible for cascade testing, use resources to ensure testing is offered, and know which options can help patients overcome potential barriers to testing, according to a Committee Opinion published online Dec. 21 in Obstetrics & Gynecology.

Catherine Witkop, M.D., M.P.H., from the American College of Obstetricians and Gynecologists' Committee on Gynecologic Practice, and colleagues focused on the role of the obstetrician-gynecologist in cascade testing, which refers to and testing in blood relatives of individuals who have been identified with specific genetic mutations.

The researchers noted that cascade testing protocols and interventions may save lives and improve health and quality of life for of those identified with specific genetic mutations. Obstetrician-gynecologists should know who is eligible for cascade testing and should ensure that testing is offered and provided in a timely manner. They should also be aware of potential barriers to testing and make patients aware of options to overcome these barriers. In order to increase testing for hereditary gynecologic cancer, obstetrician-gynecologists should understand and participate in public health efforts.

"Obstetrician-gynecologists have to be prepared for all of the steps in cascade testing," lead Committee Chair Kristen Matteson, M.D., M.P.H., said in a statement. "Most importantly, we must help patients navigate what is often a complex and emotional process."

Explore further: ACOG issues guidelines for routine HIV testing for women

More information: Abstract/Full Text

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