Gender & Health Interest Group Meeting
Methodological Advances and Approaches
in Gender and Health Research
June 26, 2010
Maren T. Scheuner, MD, MPH, FACMG
VA Greater Los Angeles Healthcare System
RAND Health, Santa Monica, CA
Department of Medicine, David Geffen School of Medicine at UCLA
VA HSR&D Center for the
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Provider Behavior
Outline
What is g
genomic medicine?
Gender and genomic medicine
Where we are on the translation highway?
Delivery of genomic medicine
Health services research and policy questions
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Definition of Genomic Medicine
The delivery of health care in a manner
that is informed by each person’s unique
clinical information; genetic, genomic,
and other molecular/biological
characteristics; and environmental
influences.
Willard HW. In Genomic and Personalized Medicine Vol 1. Ed: Willard and
g, London: Academic Press: 2009:4-21.
Ginsburg,
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Goal of Genomic Medicine
To enhance preventive care strategies,
improve diagnosis and prognosis, avoid
adverse events, and inform appropriate
selection and dosing of drug therapies.
Willard HW. In Genomic and Personalized Medicine Vol 1. Ed: Willard and
g, London: Academic Press: 2009:4-21.
Ginsburg,
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Number of Molecular Tests Increasing
Testing for single gene disorders
100 in 1993; 2,097 as of June 24, 2010
Genome wide association studies have accelerated
gene discoveries for common diseases
http://hugenavigator.net
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Genomic Medicine Is Changing
g g
g shifting
g from:
Focus of g
genetic testing
– Rare to common conditions
– Diagnosing
Di
i to
t predicting
di ti risk
i k off di
disease and
d
response to therapy
Focus of genomic medicine will shift from:
S
i li t tto primary
i
– Specialist
care
– One
One--sizesize-fitsfits-all to individualized medicine
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Gender and Genetics
G
i iis relevant
l
b h ffemales
l and
d males
l
Genetics
to both
throughout the lifespan
Test results inform medical, reproductive and
personal decision
decision--making
Women are more directly affected by test results
that inform reproductive decisions
Genetic test results can have different implications
depending on gender
– BRCA1/2 mutations and hereditary breast
breast--ovarian cancer
– Mismatch repair mutations and Lynch syndrome
– Fragile X pre
pre--mutation status
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Breast ca, 42
Ovarian ca, 42
Breast ca, 49
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Prostate ca, 62
Breast ca, 28
8
Ataxia & tremor, 59
POF, 38
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Mental
Retardation
Mental
Retardation
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Continuum of Genomics
Translational Research
Phase 1
Phase 2
Phase 3
Phase 4
Gene discovery
to clinical
application
Assess value of
genetic applications;
Guideline
development
Move evidencebased guidelines
into health
practice
Evaluate “real
world” health
outcomes
No more than 3% of published genomics research
f
focuses
on T2 and
d beyond
b
d (Khoury
(Kh
et al.,
l 2007)
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Useful Genomic Applications
Commonly Not Put Into Practice
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C. Lenfant “Lost in Translation” NEJM 2003;349:868
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Is the health care system ready
to translate genomic medicine discoveries
into effective, personalized care for patients?
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Key Questions
1. What are the outcomes of genomic medicine for
common, chronic
h
i diseases?
di
?
2 What are consumer information needs?
2.
3. How is genomic medicine best delivered?
4. What are the barriers/challenges to delivery of
genomic medicine for common
common, chronic diseases?
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What Did We Learn?
Health care workforce not adequately prepared
– Not enough genetics professionals; other clinicians
lack knowledge and confidence
G
Genomic
i medicine
di i delivery
d li
models
d l limited;
li it d
concerns about scalability and sustainability
Consumers optimistic yet cautious
– Concerns about stigmatization & discrimination
Gaps
p in regulation
g
of genetic
g
testing
g industry
y
Limited evidence describing health outcomes
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The Total Testing Process
A Framework for Assessing Quality of Laboratory Services
Pre-Analytic Phase
Order test,
Collect sample,
Transport specimen
Patient & Family
and Clinical Staff
Analytic Phase
Process and
Analyze specimen,
Generate results
and report
Laboratory
P
Personnel
l
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Post-Analytic Phase
Receive report,
R
Recommend
d
Management/prevention
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Errors in Genetic Testing
More likely to occur during the:
– Pre
Pre--analytic phase - inappropriate test
requests causing misuse, overuse or underunder-use
of of tests
– Post
Post--analytic phase - lack of awareness about
test limitations causing misinterpretation of
results, inappropriate recommendations,
resulting in adverse health outcomes and
increased costs
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Potential Strategies to Reduce Errors
Educate healthcare providers about genetic
testing services; indications,
indications limitations
Create better, standardized laboratory
requisitions and reports
Develop and integrate clinical decision support in
electronic health records
I t
t genetic
ti counselors/nurse
l /
ti i t
Integrate
geneticists
within primary care and other settings
Increase the genetics professional workforce
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“Strategies to Increase Access to Quality Genetic
Testing Services: Case Study of BRCA1/2 Testing”
Maren Scheuner
Benjamin Kim
Tanya
y Bentley
y
Stuart Olmsted
Steve Wooding
Elisa Eiseman
Poster session C, Monday night!
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Objectives
Create a framework to understand how best to
organize
the d
delivery
off
i and
d strategically
t t i ll plan
l ffor th
li
genetic testing services.
Use this framework to develop a decision analytic
model to understand the scope of problems
relating to prepre- and post
post--analytic phases of the
process
genetic testing process.
Evaluate potential effects of strategies designed
to increase access to quality genetic testing
services with decision analysis
analysis.
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1. Select Individual for
Testing
2. Select Test(s)
3. Pre-test Communication
Framework Depicting Processes
Involved in Delivery of Genetic Tests
Pre-analytic phase
4. Test
Uptake
Decision
Analytic phase
Yes
5. Order Test
6. Collect
Specimen
7. Process Specimen
No
8. Analyze Specimen
12. Recommendations
Health
Outcomes
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11. Test Result
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Disclosure
10. R
10
Receive
i
Report
9 T
9.
Testt R
Result
lt &
Report
Post-analytic phase
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BRCA1/2 Predisposition Testing Model
Model Assumptions (Markov microsimulation)
,
,
g USPSTF criteria
– 1,000,000
unaffected,, non Jewish women meeting
for BRCA1/2 testing without familial mutation known
– Probability of detecting a BRCA1/2 mutation: 0.32
– Women
W
enter
t pathway
th
with
ith PCP
– PCP can refer to geneticists, genetic counselors, other specialists
– PCP can refer to 4 DTC companies; only 1 offers BRCA1/2 testing
Primary Outcomes of Interest
–
–
–
–
ifi d as hi
h-risk
i k
% off women id
identified
high
high% of women opting for BRCA1/2 testing
% of women opting for different test (with DTC)
% of women receiving appropriate medical recommendations
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Base Case Probabilities for PCPs and with
Genetics
G
ti Education
Ed
ti or Use
U off CDS
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Base Case Model with Sensitivity Analysis
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Base Case Model with Sensitivity Analysis
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Base Case Model with Sensitivity Analysis
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Base Case Model with Sensitivity Analysis
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Conclusions
Base Case: There is underutilization of services for women at
high risk for breast and ovarian cancer.
Increasing referrals to DTC companies may undermine
screening and prevention efforts for highhigh-risk women.
When the PCP is responsible for coordination of care:
– Availability of EHRs with CDS appears to be key in
achieving improved health outcomes relating to BRCA1/2
tests
– If CDS is not available, PCP education with high rates of
referrals to g
genetics p
professionals at Step
p 2 is a reasonable
alterative.
If a woman could begin the process with a genetics
professional, this might provide additional improvements in
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outcomes.
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Provider Behavior
Implementation of Genomic Medicine
eea
e fundamental
u da e ta cchallenges
a e ges to
There
are
integration of genomic medicine into practice.
Increasing access to quality genetic testing
p
on multiand related services will depend
disciplinary, multi-level level approaches, and
will require cost-effective
cost effective resource
investment.
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Some Unanswered Questions about
I l
Implementation
t ti off Genomic
G
i Medicine
M di i
How should we deliver genomic medicine? Who should do
it
i and
d iin what
h settings?
i
?
How should we train health professionals to deliver
genomic
i medicine?
di i ?
How do we assess the added value of genetic tests? What
study
t d designs
d i
would
ld b
be mostt useful
f l ffor evaluating
l ti
outcomes?
H
d
ff ti l communicate
i t genetic
ti iinformation
f
ti tto
How
do we effectively
consumers? Can we change behaviors?
Will GINA mitigate privacy concerns? How will it impact the
insurance industry? The testing industry?
Should gaps in regulation of genetic testing be filled?
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Who Should Care About These Issues?
H lth
Healthcare
systems
t
Public health agencies
Insurers
Regulators
g
Pharmaceutical industry
Employers
Diagnostic testing industry
Educators
HIT industry
Consumers
Health professional groups
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Thank You
maren.scheuner@va.gov
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