SURVEILLANCE FOR BRCA AND LYNCH SYNDROME: Risk Criteria and Genetic Counseling and Testing Data for Cancer Cases
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1 SURVEILLANCE FOR BRCA AND LYNCH SYNDROME: Risk Criteria and Genetic Counseling and Testing Data for Cancer Cases Carol Sweeney PhD Director, Utah Cancer Registry Supported by CDC UNIVERSITY OF UTAH HEALTH, 2017
2 Utah Genomics Program Utah Department of Health (UDOH) was awarded funding from the Centers for Disease Control and Prevention for Enhancing Cancer Genomic Best Practices through Education, Surveillance, and Policy Long-term goal: to reduce the incidence and mortality of hereditary breast, ovarian, and colorectal cancer by increasing the capacity to apply evidence-based cancer genomics in public health practice.
3 Utah Genomics Program Genetic Syndromes of Interest: Hereditary breast and ovarian cancer syndrome (HBOC) Lynch syndrome
4 Utah Genomics Program Project Partners: Utah Cancer Registry Utah Population Database Intermountain Healthcare Huntsman Cancer Institute
5 Utah Genomics Program Program components: Surveillance Provider education
6 This Presentation Utah Cancer Registry surveillance activities under Utah Genomics Project
7 Background Guidelines from the National Comprehensive Cancer Network (NCCN) and other groups recommend that individuals with a cancer diagnosis meeting certain criteria be referred for genetic counseling and/or genetic testing. Data are limited to determine whether these guidelines are being followed. Central cancer registries currently do not require reporting of genetic counseling and testing
8 Objectives Determine prevalence and trends for genetic risk criteria, genetic counseling, and genetic testing for cancer cases. Explore feasibility of adding genetic testing and other relevant variables as reportable cancer surveillance items. UTAH CANCER REGISTRY
9 Methods Utah Cancer Registry data were queried for individuals diagnosed with cancer who met criteria for genetic testing Characteristics including cancer site, histology, and age at diagnosis. Linkage with the Utah Population Database (UPDB), Utah s unique geneaology and health data resource, was used to determine family cancer history.
10 Methods A random sample of eligible cases was selected for abstraction. HBOC (breast cancer, ovarian cancer) Lynch Syndome (colorectal cancer, endometrial cancer) Years of diagnosis 2012 & 2013
11 Methods An abstraction instrument was developed to capture: Family history Genetic counseling Genetic testing Experienced Certified Tumor Registrars (CTR) received specialized training, including reviewing records with genetic counselors, to abstract these variables from medical records.
12 Percent of Individuals with a Breast Cancer Diagnosis Meeting Criteria for HBOC Genetic Counseling or Testing, Utah Criterion % Male breast cancer 0.8 Diagnosed <= age Diagnosed age Triple negative and diagnosed <= age Triple negative and diagnosed > age Second Breast Primary, 1 diagnosed <= age Second Breast Primary, not diagnosed <= age UPDB Family History 23.4 Any risk criteria, counseling or testing 28-39
13 Percent of Individuals with an Ovarian Cancer Diagnosis Meeting Histology Criteria for HBOC Genetic Counseling or Testing, Utah Criterion % Serous Histology 45.5
14 Percent of Individuals with a Cancer Diagnosis Meeting Criteria for Lynch Syndrome Genetic Counseling or Testing, Utah n % Invasive Colorectal Cancers 1 1,897 UPDB Family History Yes No 1, Invasive Endometrial Cancers 1,010 UPDB Family History Yes No Excluding carcinoid
15 Documentation of Genetic Counseling and Family Cancer History, Abstracted Cases Meeting Criteria for HBOC Testing Utah Breast Ovarian Total n % n % n % Total Genetic Counselor (GC) Consult or Referral Documented Yes No or no info Family Cancer History Documented Yes Noted 'no family history' No info
16 Genetic Counseling and Testing for Abstracted Cancer Cases Meeting HBOC Testing Criteria, Utah Breast Ovarian n % n % Counseling Yes, Testing Yes Counseling Yes, Testing No Counseling No, Testing Yes Counseling No, Testing No
17 BRCA1 and BRCA2 Results among Breast and Ovarian Cancer Cases Tested Breast Ovarian Total n % n % n % BRCA1 Results Positive for known familial variant Variant of unknown signif Negative Results not specified BRCA2 Results Positive for known familial variant Variant of unknown signif Negative Results not specified
18 Genetic Counseling, Cases Meeting Criteria for Lynch Syndrome Risk Utah Colorectal Endometrial Total n % n % n % Total Genetic Counselor (GC) Consult Documented Yes, documented referral No or unknown
19 Genetic Counseling and MMR Testing, Cases Meeting Criteria for Lynch Syndrome Risk Utah Colorectal Endometrial Total n % n % n % Total IHC MMR Testing Not done or no info Yes, testing done MMR Testing Results Loss for one or more markers No markers lost MMR Test Days from DX 0 to 30 Days to 90 Days > 90 Days
20 Discussion Risk criteria Cancer registry data are informative for criteria for HBOC testing, except family history A high proportion, 30-40%, of breast cancer patients meet criteria for genetic counseling or testing Lynch syndrome testing criteria include tumor marker results which are not available in cancer registry variables
21 Discussion Family History Family history was documented in the medical record for most cases meeting genetic risk criteria Family history was document more often for HBOC cases than for Lynch Syndrome cases, 91% vs. 77% Family history information in medical record is notes, not structured data Abstracting family history is complex and time consuming
22 Discussion Genetic counseling Shortage of trained genetic counselors has been a barrier Anecdotally, genetic counseling appointments may not be billed and thus not well document in medical record
23 Discussion Genetic testing For more than half of the eligible HBOC cases sampled (53%), the medical record did not indicate BRCA testing being offered or declined When BRCA testing was documented, test results were usually (70% of cases) in a document such as a lab report or genetic counselor letter. For other cases the mention of testing, with or without results, was in surgical or oncology notes.
24 Study Team Utah Cancer Registry Carol Sweeney PhD Sandra L Edwards MA Kim A Herget MStat Heather Cheney CTR Craig Davis CTR Utah Population Database Allison Fraser MSPH Intermountain Healthcare Brent Hafen MS CGC Utah Department of Health Heather B Sarin MBA MPH Camille Roundy MPH Lynette Phillips MPA Huntsman Cancer Institute Amanda Gammon MS CGC Wendy Kohlmann MS CGC Samantha Greenberg MS MPH CGC UNIVERSITY OF UTAH HEALTH, 2017
Notes for slide 2 Welcome to today s training webinar. We appreciate everyone taking time today to hear our presentations. We are very excited to fina
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