Abstract AP04: INCREASING ACCESS TO GENETIC TESTING FOR HEREDITARY BREAST AND OVARIAN CANCER: EXPERIENCE FROM HIGH-VOLUME OB/GYN CLINIC IN TEXAS

• Published in: Clinical cancer research 2019-11, Vol.25 (22_Supplement), p.AP04-AP04
• Main Authors: Heydrich, Carmelina, Servais, Lily K, Popelka, Sarah A, Moreau, Brian K, Allio, Katie N, Zimmer, Anjali D
• Format: Article
• Language: English
• ISSN: 1078-0432; 1557-3265
• DOI: 10.1158/1557-3265.OVCASYMP18-AP04

INTRODUCTION: Currently most genetic testing for hereditary cancer risk is performed on individuals with strong personal and/or family histories of cancer. However, as much as 50% of people with a BRCA1 or BRCA2 gene mutation may not have significant family history. As a result, many people are often not identified as having a pathogenic mutation until after they or someone in their family has already been diagnosed with cancer. This study aims to provide insights into prevention of hereditary breast and ovarian cancer by providing broad access to testing in the ob/gyn care setting. METHODS: We describe the demographics and genetic results of 1,113 individuals who were referred by a physician to receive genetic testing for hereditary cancer risk from Color Genomics. The test is a next generation sequencing (NGS) based assessment of 30 genes associated with hereditary cancer risk. The physicians offered the Color Test to their patients at their wellness visit and provided education about genetic testing via online newsletter to inform patients and increase interest for the program. The OB/GYN practice consists of 22 clinicians and serves almost 50 thousand patients. RESULTS: More than 48,253 patients were sent information about this genetic testing via email. The email open rate was 39.6%. 1,113 individuals underwent testing. In the cohort, a total of 90 pathogenic or likely pathogenic variants were identified for an overall pathogenic rate of 8.1%. Twenty individuals (1.8%) were identified as having mutations in genes that increased risk of ovarian cancer (BRCA1, BRCA2, BRIP1, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, RAD51C, RAD51D, STK11 and TP53). The average age of the participant who underwent testing was 44.4 years of age. The cohort was 44% Caucasian. Nineteen patients reported Ashkenazi Jewish (AJ) ancestry; the pathogenic rate among people who indicated AJ ancestry was 21%. Health history was self-reported and 47 individuals reported a history of cancer. Only two individuals reported a personal history of ovarian cancer--both were negative for any pathogenic mutations. CONCLUSIONS: The cohort analyzed here included a broader population than has historically qualified for or been offered genetic testing for hereditary cancer risk. The approach taken by this OB/GYN practice highlights a novel way to identify people at increased risk for cancer due to inherited mutation. The practice identified 90 patients who were at increased risk for cancer, including