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Adult-Onset Disease The Example of Colon Cancer

Adult-Onset Disease The Example of Colon Cancer. Summer, 2012. Day #4 as Director.

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Adult-Onset Disease The Example of Colon Cancer

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  1. Adult-Onset DiseaseThe Example of Colon Cancer Summer, 2012

  2. Day #4 as Director When you get to your office this morning, you see that someone has left a copy of HP2020 on your desk, opened to the page describing the new Genomics objectives. The following objective is highlighted: Increase the proportion of persons with newly diagnosed colorectal cancer who receive genetic testing to identify Lynch syndrome (or familial colorectal cancer syndromes). Attached is a post-it note: “What are we going to do about this? Can the Virginia Cancer Registry help?”

  3. What Do You Need To Know and Where Are The Gaps? • What is Lynch syndrome? • How common is it? • What is the screening? • Is it cost-effective? • Is informed consent required? • Can the state registry help? • Are there alternative strategies?

  4. What Is Lynch Syndrome? • An autosomal dominant condition associated with strong risks for colon cancer as well as cancers of the uterus and other GI Cancers. • Visit the Genetics Home Reference for some more information.

  5. How Common Is Lynch Syndrome? • In Virginia, about 3,250 new cases of colorectal cancer are expected this year. • Most colon cancer is not hereditary. Important risk factors include: • Obesity • Smoking • Alcohol • Age • Inflammatory bowel disease • About 2% of colon cancers are associated with Lynch syndrome

  6. How Can We Screen the Population for Lynch Syndrome? • Colon cancer tumor tissue can be tested for microsatellite instability. • About 90% of Lynch syndrome colon cancers show microsatellite instability, compared to about 15% of non-hereditary colon cancers

  7. Is Lynch Syndrome Screening Cost-Effective? • Relevant factors include: • Cost of the screening – typically ~$800 • Number you screen (everyone? Only those who have cancer at young ages?) • Cost of diagnostic genetic testing if screen positive (typically several thousand dollars) • Potential for prevention of subsequent cancers (e.g., second colon cancers or other Lynch syndrome-related cancers) • Potential for cancer prevention in relatives who didn’t know they were at risk • Check out this analysis from the CDC

  8. Is Informed Consent Required? • What are some risks with screening? • Unanticipated information about future disease risk for self and family members • Psychological harm? • Who pays for confirmatory genetic testing? • Who pays for recommended screening/prevention for those who test positive? • Will this put someone (and/or their relatives) at risk for insurance discrimination (e.g., life, disability)? • Does this obligate the treating doctors to counsel patients (and their family members) about Lynch syndrome?

  9. Can the State Registry Help? • Read a bit about the Virginia Cancer Registry • Collects information about all new diagnoses, including MSI results (if performed) • Could this be used to: • Assess the genetic epidemiology of Lynch syndrome? • Identify the current state of Lynch syndrome screening? • Identify persons at risk for Lynch syndrome? • Facilitate informed consent? • Check out this relevant publication.

  10. Are There Alternatives To Expensive Lab Testing? • A good family health history may be the most powerful, publicly accessible screen currently available. • Check out this flyer from the CDC.

  11. Will Family History Screening Work? • EGAPP said “No”: “Family history is an important risk factor for CRC in the general population. Among individuals with newly diagnosed CRC, however, family history is less useful as the first step in identifying Lynch syndrome than strategies involving the analysis of tumor samples (e.g., MSI, IHC).” • Would this change if we did a better job of promoting family history communication?

  12. Family History as a Public Health Tool • Note Am J Prev Med 2(24); Feb 2003 • From 2009 AHRQ report on assessing family history: • Difficult to assess clinical validity • Low sensitivity, but high specificity (analytic validity) • Impact on health behaviors uncertain (clinical utility) • Not psychologically harmful (ELSI) • Lots of research to be done

  13. Recall Your Task When you get to your office this morning, you see that someone has left a copy of HP2020 on your desk, opened to the page describing the new Genomics objectives. The following objective is highlighted: Increase the proportion of persons with newly diagnosed colorectal cancer who receive genetic testing to identify Lynch syndrome (or familial colorectal cancer syndromes). Attached is a post-it note: “What are we going to do about this? Can the Virginia Cancer Registry help?”

  14. What Public Health Genomic Competencies Apply? Competencies • Apply the basic public health sciences, (including behavioral and social sciences, biostatistics, epidemiology, informatics, environmental health) to genomic issues and studies and genetic testing, using the genomic vocabulary to attain the goal of disease prevention  • Identify the role of cultural, social, behavioral, environmental and genetic factors in development of disease, disease prevention, and health promoting behaviors; and their impact on medical service organization and delivery of services to maximize wellness and prevent disease  • Participate in the evaluation of program effectiveness, accessibility, cost benefit, cost effectiveness and quality of personal and population-based genomic services in public health  • Develop protocols to ensure informed consent and human subject protection in research and human subject protection in research

  15. Which essential public health services would you recommend?(See Framework on Next Slide for Ideas)

  16. A Potential Action Plan • Public Health Service: • Monitor health status to identify and solve community health problems • You talk with leaders in the cancer registry and find out that MSI is currently recorded by registrars in Virginia. You request a report of incident colon cancers, ages at diagnosis, and whether MSI screening was performed. From this, you plan to identify and work with point-of-care centers that are already effectively screening for Lynch syndrome, ultimately to come up with a statewide plan.

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