Practice Management

33 - Increased Yield of Hereditary Cancer Risk Assessment in a GI Office Practice Utilizing NCCN Guidelines and Panel Testing

Tuesday, October 9
9:20 AM - 9:30 AM
Location: Terrace Ballroom 2-3 (level 400)

Category: Practice Management
Matthew McKinley, MD, Jennifer Deede, PA, Jeremy Rochester, MD, Robert Gal, MD, Frank Gerardi, MD, Betsy Pathical, MD, Hina Zaidi, MD, Brian Markowitz, MD, Michael Adler, MD, Lisa Lih-Brody, MD
ProHEALTHcare Associates, Lake Success, NY

Introduction: Deleterious mutations associated with an increased risk of cancer are prevalent in the general population and remain undetected in the vast majority of patients until cancer develops. Hereditary cancer assessment is an important part of patient evaluation, especially upon initial presentation to a clinician. Customarily, specialists focus on family history specific to their specialty. Gynecologists and breast surgeons query patients about family history of breast and ovarian cancer (ie HBOC syndrome) while gastroenterologists & colorectal surgeons focus on Lynch syndrome. Recently, we broadened our cancer risk assessment in our GI population by utilizing the more broad NCCN guidelines rather than focusing on GI criteria.

Methods: We employed a digital survey on a tablet using NCCN guidelines. The patients were presented with the tablet prior to being seen by the physician. If the survey indicated that the patient was at increased risk for hereditary cancer, further evaluation and possible testing was offered.

Results: 2,239 patients were screened: 639 patients (29%) = high risk, 76% met HBOC criteria, 12% met Lynch criteria, and 12% both; 381 interested in genetic evaluation (60%), 374 were tested (98%): 27 were positive for deleterious mutations: 9 APC low penetrance (7 of 9 Ashkenazi Jewish - elevated colon cancer risk), 6 Monoallelic MUTYH, 3 ATM, 2 APC, 2 BRCA1, 2 BRCA2, 1 CHEK2, 1 PMS2, 1 RAD51D.

26/27 mutations (96%) with GI-related cancer risk - 3 single-site testing=24 mutations via panel testing & 23 (95.8%) with GI-related cancer risk.

14/23 (61%) had HBOC-related indications vs. 9 (39%) with Lynch indications.

Overall, 18 mutations (67%) are GI-related genes (monoallelic MUTYH, APC low penetrance, APC & PMS2) - 2 were single-site testing, ie 16 mutations were identified by panel testing. 8/16 (50%) = HBOC-related indications & 8 (50%) were Lynch indications

Discussion: In an attempt to identify individuals with an increased risk of hereditary cancer in our practice, we expanded our assessment based on overall risk by utilizing NCCN guidelines rather than focused GI criteria. We detected 27 previously unidentified mutations in our population of 2239 screened patients. Expanding the survey questions to include HBOC risks and using panel testing, resulted in a 2.5 fold increase in the detection of GI related mutations. This experience suggests that hereditary risk assessment should address overall cancer risk and not be limited to focused assessment.


Disclosures:
Matthew McKinley indicated no relevant financial relationships.
Jennifer Deede indicated no relevant financial relationships.
Jeremy Rochester indicated no relevant financial relationships.
Robert Gal indicated no relevant financial relationships.
Frank Gerardi indicated no relevant financial relationships.
Betsy Pathical indicated no relevant financial relationships.
Hina Zaidi indicated no relevant financial relationships.
Brian Markowitz indicated no relevant financial relationships.
Michael Adler indicated no relevant financial relationships.
Lisa Lih-Brody indicated no relevant financial relationships.

Send Email for Lisa Lih-Brody


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33 - Increased Yield of Hereditary Cancer Risk Assessment in a GI Office Practice Utilizing NCCN Guidelines and Panel Testing



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