Transcript Genetics and Colorectal Cancer: A Department of Veterans

PROVIDERS AND PATIENTS IN THE
CLINICAL SETTING: GENETIC
TESTING AND MENTAL ILLNESS
Holly L. Peay, MS CGC
NCHPEG
Importance of Education: Genetic
Testing and Mental Illness
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Highly prevalent group of disorders
Etiologically complex
Increased risk to relatives
Strong interest in genetic testing from affected
individuals and family members
 Perceived
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utility not known
High perceived burden
Perceived cause commonly includes genetics
Genetic Susceptibility Testing
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Provides a risk for a particular disorder or group of
disorders
 Will
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never provide yes/no answers
Testing can include one or many genes
Difficult to imagine a more complex educational
challenge
When is the time right for an educational initiative?
Needs Assessment Focus Group
and Interviews
Needs Assessment: Partnership with
IntegraGen
Is now the time for education about evaluating
genetic susceptibility testing?
What are providers’ perceptions?
What do they need to know?
[Simulated ad]
Genetic Risk Assessment for Autism
ACME Laboratories is now offering genetic susceptibility testing to
identify those at very high risk for autism.
For whom: siblings of children diagnosed with autism
What: analysis of risk alleles in 4 genes to identify children at high risk
Why: early identification and intervention for those with high-risk
scores on the genetic test
Major Barriers
Time and reimbursement
 Insufficient knowledge
 Perceived utility of test
 Not knowing how to start the
conversation & discuss these issues
 Unclear how to intervene with positive
result
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Perceived Benefits
Potential psychological benefits to the
parents
 Providers would be very interested if
the test results were associated with
interventions for at-risk sibs.
 Potential to better understand the
disorder
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Use of Testing
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Providers want to incorporate genetic testing
with other risk factors for integrated risk
assessment.
 Corresponds
to providers’ perception of complex
etiology
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Provider interested in using test to aid early
diagnosis
Educational Needs
Terminology
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The genetic terminology was unfamiliar to the
majority of the attendees.
 Statistical
concepts, e.g., sensitivity and specificity,
positive and negative predictive value, especially in this
context
 Risk alleles, SNPs, etc
 The concept of susceptibility was familiar, but providers
requested information about applying it in this context.
Use of Testing
Providers need to know what they would do
differently before they order the testing.
 Providers need to understand the “proper” use
of the test.
 (Un)anticipated uses:
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 Prenatal
diagnosis
 Adult sibs concerned about affected child
 Risk in sibs of children with other ASDs
 Infants at average risk
Populations and Phenotypes
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Providers need to understand the appropriate
population(s) for testing. Providers may tend to
assume generalizability.
Inability of test to predict the severity of the
disorder reduces utility for families
Providers need to understand the phenotype, e.g.,
autism vs ASDs
Understanding Test Capabilities
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What is the ability of only 4 genes to discriminate
autism?
What do we know about the 4 genes?
Concerns about ability to evaluate the test’s
detection rate, accuracy, and predictive abilities.
Understanding Results
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Understanding the risk score
How is it possible to draw a “bright line” between
high risk and not high risk?
Concern that the symptoms in a child who had a
“low risk” test result might be discounted by parents
or professionals
Risk
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Need to understand the complex etiology of autism
before providers can interpret this test
 focus
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on gxe
Understand baseline risks (comparing to empiric
risks)
Interpret the risk score, sensitivity, specificity, odds
ratios, positive and negative predictive values
Risk
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Odds ratios and natural numbers much more
familiar and meaningful to healthcare professionals
Need access to other resources to understand risks
evaluation as applied to genetics
Cost
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Providers need to be able to help parents evaluate
the cost/benefit ratio
Provider Education
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Educate a wide range of providers
Point-of-care/just-in-time materials
Use a series of vignettes to help providers
appreciate application
Evaluation: focus on clinical utility
Terminology tutorial
Statistics concepts in genetics 101
Patient/Public Education
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The public does not understand the interaction of
genes and environment that is necessary to cause
most cases of autism.
The average individual has limited understanding of
statistics.
These parents have already had the ‘rare’
experience happen to them, and they are likely to
perceive risk through that perspective.
Patient/Public Education
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Need to understand susceptibility/screening vs
diagnostic testing
Need to understand risks and benefits, possible
outcomes of the test, and what those outcomes mean
in terms of risk and interventions
People who have strongly-held perceptions of
etiology (e.g., vaccine exposure) may find it difficult
to appreciate the applicability of genetic
susceptibility testing.