Lynch Syndrome Phase 1
Several states are currently identifying people at risk for LS using existing cancer registry data. An important technique, bi-directional reporting may be one of the most cost-effective means for states to save lives using Tier 1 cancer genomic applications. Bi-directional reporting means that health-related data are separated/enhanced with added informational value and sent back to the providers or institutions that originally reported them. For example, a consolidated list of people who have had certain types of cancer might be sent back to providers along with educational materials, if current evidence- based guidelines state that people with that medical history might need to consider genetic testing. For Phase 2, this strategy could potentially be used to facilitate identification of relatives who might be at risk.
Example: MichiganMichigan identified more than 10,000 cases of CRC that were eligible for LS evaluation, using cancer registry data collected in 2006-2007. They developed a bi-directional reporting system to return facility-specific data and educational materials to 145 reporting institutions. They identified all cases with CRC or ovarian cancer and all endometrial cancers diagnosed between ages 18 and 49. In addition, they identified all individuals who had two or more LS-related primary tumors (e.g., colorectal-endometrial or colorectal-colorectal) between 1990 – 2007, with at least one diagnosis in 2006 or 2007. Facility-specific profiles were sent to key administrators including the Cancer Registrar and Medical Director of 145 facilities in 2010-2011. The packet of information included the EGAPP guideline, a data report, a directory listing Michigan cancer genetic counselors, and numerous other relevant resource materials [PDF 724.59 KB]. Free provider in-services were offered. Cases reported back to the facilities included 10,340 cases of CRC and 1985 cases with selected multiple primary cancers. Michigan’s work extends beyond the EGAPP guideline by also including other Lynch syndrome associated cancers that can be ascertained through the cancer registry, with 1544 cases of ovarian cancer and 459 cases of endometrial cancer under age 50 being reported back also.
According to Michigan staff, important factors for success included: (1) positive and longstanding relationships with the Michigan Cancer Surveillance Program and registry staff; (2) interest of the local tumor registrar in the project and their relationship with their Tumor Board or Oncology staff; (3) follow up phone calls to get the packets to the most appropriate staff member; (4) Michigan Department of Community Health Cancer Genomics presentations at the cancer registrars’ annual meeting; and (6) identification of key cancer genomics ‘champions’ within the health system (i.e., heads of oncology, marketing, risk management, etc.).
Example: ConnecticutConnecticut implemented bidirectional reporting through a $25K Healthy People 2020 Action Award and reported back 3517 cases of colorectal cancer using existing cancer registry data collected in 2008-2009. Also, 2471 cases with two or more Lynch syndrome-related primary tumors with the most recent diagnosis in 2008-2009 were reported back. Additionally, Connecticut’s work extends beyond the EGAPP guideline by including other Lynch syndrome-associated cancers that can be ascertained through the cancer registry with 533 cases of ovarian cancer and 1411 cases of endometrial cancer reported back. Targeted practitioners at acute care hospitals received reports on numbers of colorectal, endometrial and ovarian cancers to help them identify individuals who might be at increased risk for LS. The providers also received educational materials about LS and copies of evidence-based “best practice” recommendations for genetic testing. Staff at each hospital were offered the services of a board-certified genetic counselor for a Grand Rounds training session on prevention and early detection of cancer and the appropriate use of genetic counseling and testing services. Ultimately staff at 70% of the 32 hospitals requested and received a training session. In addition, project directors from 14 National Breast and Cervical Cancer Early Detection and Colorectal Cancer Control Program sites received information packets and training. These interventions were evaluated and the resulting data used to identify areas of need and inform future activities.
Example: ColoradoIn 2009, using a $30K grant from the Mountain States Genetics Collaborative the Colorado Central Cancer Registry (of the Colorado Department of Public Health and Environment) designed a small-scale project to increase awareness about hereditary CRC. This one-year study used the registry to identify patients at risk for LS and conducted targeted educational outreach to patients and physicians, providing access to a free telephone information line staffed by genetic counselors. At the end of the one-year project, they had identified and sent targeted information about hereditary CRC to 430 medical providers and 200 at-risk cases. The mail-based approach was viewed favorably by providers and patients who responded to the survey – 98% thought that the information was clear and useful – and it appears to have influenced their behavior in a positive way. Many patients reported engaging in further dialogue with their physician, a genetic counselor or family members about cancer risk assessment. About 1/3 of respondents said that they planned to have a risk assessment as a result of receiving the materials.
Expanding coverage for recommended clinical services that can improve health
States have approached LS from a policy perspective by providing information for evidence-based decisions by policy makers about Tier 1 genomics applications. Examples include working with and providing information to payers and providers which ultimately resulted in the expansion of coverage for recommended clinical services to reduce morbidity and mortality. This work also resulted in the development of the means to identify or promote self-identification of individuals and families who might be at risk of LS based on medical, genetic, or family history information.
Working with payers and providers to develop means to identify or encourage self-identification of individuals and families who may be at risk based on medical, genetic, or family history information.
Multiple State Partnership Opportunity Example: Lynch Syndrome Screening NetworkThe LSSN encourages collaboration among institutions engaged in screening for LS and provides information to institutions interested in initiating such programs. More information is available about institutions in your state that have set up universal screening programs.
Healthy People 2020 includes a developmental genomics objective: “Increase the proportion of persons with newly diagnosed colorectal cancer who receive genetic testing to identify Lynch Syndrome (or familial colorectal cancer syndromes).”
OPHG is currently leading an effort to develop LS surveillance indicators from a national population level perspective. Efforts to identify appropriate LS surveillance indicators that are relevant at the individual state level are also important. Once this process is completed, opportunities and challenges will be clarified in regard to assessing the burden within states and measuring the impact of interventions.
Example: State-Added BRFSS QuestionsSeveral states are using surveillance systems and surveys to monitor awareness and appropriate use of genetic services for LS. For example, several states have used the CDC Behavioral Risk Factor Surveillance System (BRFSS) to ask family history or genomics related questions in recent years [PDF 800.84 KB].
- Have you or any of your parents, brothers, sisters, or children ever been diagnosed with CRC by a doctor, nurse, or other HCP?
- Have you heard of a genetic test that would determine if the CRC in your family was inherited?
- To your knowledge, did you or any of your parents, brothers, sisters or children have a genetic test to determine if the CRC in your family was inherited?
- Who was it that had the genetic test?
- How likely would you be to have a genetic test to determine if the CRC in your family was inherited?
Example: Oregon Results of the 2010 BRFSS analysis [PDF 66 KB] of a state-added genetics module showed that:,
- 7.5% of people had a first-degree family history of colorectal cancer
- Among those with a first-degree relative with colorectal cancer:
- 40% had at least one relative who was diagnosed with CRC < age 60.
- 18% had at least one relative with CRC diagnosed < age 50.
Additional questions in the 2010 Oregon BRFSS included: (1) Have you ever had genetic counseling for CRC?; (2) Have you ever heard of genetic testing for CRC?; (3) Have you ever had genetic testing for CRC?
Hundreds of thousands of Americans have inherited one of the LS-causing mutations, yet many are not even aware that they are at risk of colorectal and other cancers. Furthermore, people in need of cancer genetic counseling are often not identified by the healthcare system. As a result, there is a strong need for public health education outreach to inform health care providers, payers, consumers, and policy makers about evidence-based LS recommendations. If those at risk are identified, they can benefit from more intensive and earlier screening and other preventive strategies. The style, format, and information included in educational materials may vary depending on the population, but examples produced by CDC or states can be a helpful guide. Please see the “LS tools and educational materials” section for more information including communication resources for Tier 1 LS applications.
Example: MaineCancer in the family: primary care matters. This free CME event was held in conjunction with the annual meeting of the Maine Academy of Family Physicians (MAFP) in 2012.
- Page last reviewed: March 6, 2014
- Page last updated: March 6, 2014
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