Universal Screening for Lynch Syndrome with Cascade Screening for Relatives September 7, 2012

1. Universal Screening for Lynch Syndrome with Cascade Screening for RelativesSeptember 7, 2012 Deb Duquette, MS, CGC Michigan Department of Community Health (MDCH) Genomics Coordinator DuquetteD@michigan.gov (517) 335.8286

2. EGAPP Recommendation on Genetic Testing for Lynch Syndrome Sufficient evidence to offer counseling & genetic testing for Lynch syndrome to patients newly diagnosed with colorectal cancer to reduce morbidity & mortality in relatives Relatives of patients who test positive for Lynch could be offered counseling, testing &, if positive, increased colonoscopy Evidence of benefit to the patient’s relatives Gen Med 2009;11:35-41 & 42-65

3. Healthy People 2020 Genomics Objectives

4. Hope of Universal Lynch Syndrome Screening • Enhance cancer prevention and screening for patients and families • Earlier cancer detection and prevention • Reduce health care costs • Saves lives

5. Today’s Reality: Many Unanswered Questions • Of the ~400 people in US who will be diagnosed with CRC today, ~12 of these people will have Lynch syndrome • How many of these 400 people are being screened for Lynch syndrome? • How many of the 12 are being diagnosed with Lynch syndrome? • How many of their relatives are being screened? • How many lives saved by Lynch syndrome diagnosis?

6. Lack of National Data on Lynch Syndrome Screening and Diagnosis • No current source of national data • HP2020 objective is developmental • MSI only included in cancer registry reporting since 2010 • Current pilot in select states regarding use of data element • Michigan surveillance efforts for Lynch syndrome • No health plans in Michigan have written policy aligned with EGAPP Lynch syndrome recommendations • Not feasible to utilize Medicaid claims data to determine CRC patients receiving Lynch syndrome testing • In 2006-2009 Michigan Colorectal Cancer Screening Program provided screening for low income, uninsured in three counties with high mortality rates • Of 1500 adults screened,177 referred to genetic counselor • 2010 MiBRFS indicates nearly 80% of individual at risk for familial CRC syndrome report no knowledge of genetic test • Only 3% at risk for familial CRC syndrome had genetic test • Of 610 CRC charts reviewed from 2006-2010 diagnoses, less than 2% had Lynch syndrome screening • 6 had MSI testing; 11 had IHC; 0 had BRAF; 5 had MMR; 6 had genetic counseling (all among 119 cases aligned with NCCN guidelines)

7. Barriers to Implementation • Lack of data • Lack of funding • Lack of infrastructure to support universal screening on all CRCs • Access and cost of genetic counseling and testing • Lack of awareness of EGAPP among key stakeholders • Lack of laboratory expertise • Complex process! • Lack of health plan written health plan policies aligned with EGAPP • Per EGAPP, benefit of universal screening is to relatives who may not be members of their plan • Current public health focus on general population colorectal cancer screening • Lack of provider knowledge/expertise regarding Lynch syndrome • Genetic literacy of public • Lack of uniform protocols regarding laboratory process, informed consent, ordering of test, genetics involvement, communication regarding results to providers, patients and relatives

8. Universal Lynch Syndrome Screening:Opportunities for Clinical, Public Health, and Advocacy Partnerships “…no important health problem will be solved by clinical care alone, or research alone, or by public health alone- But rather by all public and private sectors working together…..” JS Marks. Managed Care 2005;14:p11 Supplement on “The Future of Public Health”

9. Implementation of Universal Screening for Lynch Syndrome on Population Level • Public health/clinical experts meeting held in September 2010 by CDC OPHG to discuss challenges & opportunities (Bellcross et al, 2011) • Will require multi-level multi-disciplinary approach to implement • Centralized/regionalized labs and counseling services • Utilize newborn screening process as model • Pilot implementation projects needed • Review and revise practice recommendations through professional societies • Development of national standards for pathology reporting • Utilize electronic health records • Include in state cancer registries • Could include endometrial cancers • CMS buy-in needed to cover screening, follow-up counseling, testing and surveillance • If routinely performed on all CRCs and endometrial cancers, ~5,200 cancer patients and ~10,400 relatives would be identified with Lynch syndrome in one year in US alone • Increased sensitivity compared to family history

10. What can be done by state health departments now? • Increase public awareness regarding Lynch syndrome • Governor’s Proclamation for Lynch Syndrome Public Awareness Day in March • Press Releases • Factsheets • Increase provider awareness and knowledge • Grand Rounds (March) • Public health cancer conferences • Bidirectional reporting with educational materials • Include Lynch syndrome in state CCC plans and programs • Join LSSN! • Look for opportunities to integrate universal Lynch syndrome screening in colorectal cancer screening and detection efforts • Utilize existing state data sources • State cancer registry • State BRFS • Partner with hospitals implementing universal screening for Lynch syndrome

11. Lynch Syndrome Screening Network (LSSN) • Created in September 2011 with one-time funding from CDC OPHG • Founding Board of Directors from MDCH, Emory University, Huntsman Cancer Institute, The Ohio State University • Institutional membership with 92 institution applications to date • Up to 2 individuals/institution • 52 institutions currently providing routine tumor screening for Lynch syndrome on all or subset of cancers • 10 additional institutions planning to implement within 6-12 months http://www.lynchscreening.net

12. LSSN Vision and Mission • LSSN Vision: • to reduce the cancer burden associated with Lynch syndrome. • LSSN Mission: • to promote universal Lynch syndrome screening on all newly diagnosed colorectal and endometrial cancers; to facilitate the ability of institutions to implement appropriate screening by sharing resources, protocols and data through network collaboration; and to investigate universal screening for other Lynch syndrome related malignancies

13. LSSN Activities • Two in-person meetings held; next in-person meeting on Oct 27, 2012 in Boston • Creation of active listserv • Creation of website and educational materials • Creation of database • Multiple research proposals in development • Creation of CDC OPHG Blog in March 2012 • Creation of bylaws • Creation of membership application • Four active workgroups (data, research, education, membership) meet regularly by conference call

14. LSSN Membership Application Data • Impact of 2009 EGAPP Lynch syndrome recommendation • 58/62 institutions reported that EGAPP impacted their institutions • 24/62 institutions reported EGAPP supported/justified existing screening protocols • 23/62 institutions reported EGAPP provided basis for initiating Lynch screening protocol at their institution

15. Thank you! Funding for these projects were made possible by multiple cooperative agreements from the Centers for Disease Control and Prevention. The contents are solely the responsibility of the author and does not necessarily represent the official views of CDC.