Transcript Presentation

Adult-Onset Disease
The Example of Colon
Cancer
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?”
What Do You Need To Know and
Where Are The Gaps?
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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?
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.
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:
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Obesity
Smoking
Alcohol
Age
Inflammatory bowel disease
• About 2% of colon cancers are associated with
Lynch syndrome
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
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 syndromerelated cancers)
– Potential for cancer prevention in relatives who didn’t
know they were at risk
• Check out this analysis from the CDC
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?
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.
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.
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?
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
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?”
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
Which essential public health
services would you recommend?
(See Framework on Next Slide for
Ideas)
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-ofcare centers that are already effectively screening for
Lynch syndrome, ultimately to come up with a statewide
plan.