Secondary Logo

Institutional members access full text with Ovid®

Hereditary Cancer Risk Assessment and Genetic Testing in the Community-Practice Setting

DeFrancesco, Mark S., MD; Waldman, Richard N., MD; Pearlstone, Melissa M., MD; Karanik, Dana, RN; Bernhisel, Ryan, MStat; Logan, Jennifer, PhD; Alico, Lindsey, MS, CGC; Adkins, Royce T., MD

doi: 10.1097/AOG.0000000000002916
Contents: Cancer: Clinical Practice and Quality

OBJECTIVE: To evaluate the feasibility and results of incorporating routine hereditary cancer risk assessment, counseling, and follow-up genetic testing in the community obstetrics and gynecology practice setting without referral to a genetic counselor.

METHODS: This prospective process intervention study was conducted with two obstetrics and gynecology practice groups (five sites). The intervention included baseline process assessment, refinement of clinic-specific patient screening workflows and tools, and training in hereditary cancer risk screening and follow-up. Outcomes related to hereditary cancer assessment and testing were measured during an 8-week postintervention period. Patients and health care providers were surveyed about satisfaction with the process. Data also were collected during the 8 weeks before the intervention to assess the effects of screening process improvements.

RESULTS: A total of 4,107 patients were seen during the postintervention period, and 92.8% (3,811) were assessed for hereditary cancer risk. Among those assessed, 906 of 3,811 (23.8%) women met National Comprehensive Cancer Network guidelines for genetic testing, and 813 of 906 (89.7%) eligible patients were offered genetic testing. A total of 165 of 4,107 (4.0%) women completed genetic testing and received a final test result. This represents a fourfold increase over genetic testing immediately before the intervention (1.1%) and an eightfold increase over the previous year (0.5%). Testing identified pathogenic variants in 9 of 165 (5.5%) tested women. All health care providers (15/15) reported that they will continue to use the established hereditary cancer risk assessment process. In addition, 98.8% (167/169) of patients who submitted a sample for genetic testing and completed a patient satisfaction survey stated that they were able to understand the information provided, and 97.6% (165/169) expressed satisfaction with the overall process.

CONCLUSION: It is feasible to incorporate hereditary cancer risk assessment, education, and testing into community obstetrics and gynecology practices. As a result, multigene panel testing identified significant cancer risks that otherwise would not have been recognized.

Routine, standard-of-care hereditary cancer risk assessment, counseling, and guideline-based genetic testing by obstetric and gynecologic care providers are feasible and improve identification of cancer risk.

Westwood Women's Health, Waterbury, Connecticut; Associates for Women's Medicine, Syracuse, New York; Myriad Genetics Inc., and Myriad Genetic Laboratories, Inc., Salt Lake City, Utah.

Corresponding author: Mark S. DeFrancesco, MD, Westwood Women's Health, 60 Westwood Avenue, Suite 200, Waterbury, CT 06708; email:

Mark S. DeFrancesco and Richard N. Waldman received funding from Myriad Genetic Laboratories on behalf of their institutions to support this study.

Financial Disclosure Mr. Bernhisel, Dr. Logan, Ms. Alico, and Dr. Adkins were employed by Myriad Genetic Laboratories at the time of the study and received salary and stock options as compensation. The other authors did not report any potential conflicts of interest.

Presented as an ePoster at the American College of Obstetricians and Gynecologists' Annual Clinical and Scientific Meeting, April 27–30, 2018, Austin, Texas.

The authors thank Krystal Brown, an employee of Myriad Genetic Laboratories, for her assistance with manuscript preparation.

Peer review history is available at

Each author has indicated that he or she has met the journal's requirements for authorship.

Received June 05, 2018

Received in revised form July 26, 2018

Accepted August 02, 2018

© 2018 by The American College of Obstetricians and Gynecologists. Published by Wolters Kluwer Health, Inc. All rights reserved.