Health Systems
y
Interventions to
Reduce Disparities:
Incorporation of Genomics in
Routine Care in the Veterans Health
Administration
Sara J. Knight, PhD
Interdisciplinary Program to Improve Care for
Veterans with Complex Comorbid Conditions
San Francisco VA Medical Center
Evidence on disparities in genomics p
g
health services
• Ethnic/racial and socioeconomic variation in attitudes risk perception and uptake of
attitudes, risk perception, and uptake of genetic testing primarily in cancer;
• Mostly
Mostly from high risk groups, familial from high risk groups familial
applications;
• Hypothesized barriers to care include socioeconomic, geographic, ethnocultural, psychosocial health literacy and logistical
psychosocial, health literacy, and logistical factors.
Common Diseases and
Health Systems
lh
• Less is known about the potential for disparities in access to genomic services for
disparities in access to genomic services for common chronic diseases;
• Littl
Little information on disparities in access to i f
ti
di
iti i
t
genomic health services that are incorporated in health care systems;
in health care systems;
• Need models to understand how disparities may occur as new technologies are introduced
may occur as new technologies are introduced within health care systems.
VHA Considerations
VHA Considerations

Equal access to health care system

E li itl
Explicitly serves vulnerable populations
l
bl
l ti

Emphasis on equity in care
p
q y

Empirical work supports equity

Critical to consider definition of disparities



Patient complexity
Literacy and level of educational attainment
Social isolation
Disparities and Diffusion of Innovation
Early model to understand access
• Hereditary nonpolyposis colon cancer (HNPCC) provides
g
in VHA.
an illustration of current integration
– Colon cancer is common and one of the leading
causes of cancer death.
– HNPCC is rare (5% of colon cancers), but is associated
with 80% risk of colon cancer and lesser risk of ten
other cancers (e.g., ovarian and endometrial cancer).
g standing
g and widely
y disseminated clinical g
guidelines
• Long
recommend individualized care:
– National Comprehensive Cancer Network (NCCN);
– American Gastroenterology Association (AGA).
Disparities in colon cancer
Disparities in colon cancer
Social disparities observed in colorectal cancer Social
disparities observed in colorectal cancer
incidence and mortality, access to clinical trials, and treatment.
and treatment.
Race/ethnicity, socioeconomic status, gender, age language and literacy insurance and
age, language and literacy, insurance, and geography have been examined.
However, recent review suggests mixed results H
i
i d
l
in several domains, such as screening and treatment.
treatment
Person with CRC Potentially Due to
HNPCC
Genetic Counseling
Analyze Tumor for MSI or IHC
High MSI and/or Low IHC
Low MSI or Stability of MS
and/or IHC
Germline Testing for
Mismatch Repair Genes
Unlikely Due to HNPCC
Germline Mutation in Mismatch
Repair Genes HNPCC
No Germline Mutation
MLH1 Methylation Studies and/or BRAF
Assessment if MLH1 Loss
Normal Methylation and/or BRAF
M t ti
Mutation
Hypermethylation
yp
y
or
Mutation in BRAF Gene
Tumor Likely Due to Undetectable
Mutation in MLH1
Tumor Unlikely Due to
HNPCC
Referral of Family Members for Genetic
Counseling
What genomic services are available?
• Three types of services specified in guidelines:
– Family history collection and documentation
– Ge
Genetic
et c Counseling
Cou se g
– Molecular analysis and genetic testing
• G
Goals
l off genomic
i services
i
ffor colon
l cancer
patients:
– Identify patients who may benefit from more intensive
surveillance and more aggressive treatment;
– Identify family members for more intensive screening.
Central Questions
• How is genomic information being integrated in
to colon cancer care in the VHA?
• What are the p
patient,, p
provider,, organization,
g
, and
innovation characteristics associated genomic
services in VHA?
• What are the barriers and facilitators for
appropriate utilization of these services
thorough-out the VHA?
What we have learned so far
Retrospective cohort design focusing on young
Veterans (under age 50) cared for in the VHA who
would be expected to receive a genomic service
relevant to hereditary nonpolyposis colon cancer
HNPCC.
Documentation appropriate for three health services
when diagnosed with colon cancer or HNPCC
HNPCC-related
related
cancer under age 50:
Family history
Genetic counseling
Genetic testing,
g DNA analysis
y
Administrative Data Sources
Initial Data sources (2003 to 2007):
– National Patient Care Database Outpatient Event
– National Enrollment
– Fee Basis
– Inpatient Main
– Inpatient Observation
– Non-VA Inpatient Main
– Extended Care Main
– Inpatient Procedure and Surgery
– Non-VA Procedure and Surgery
– Extended Care Procedure and Surgery
Qualitative Methods
• Limited chart review of records at San Francisco to
explore evidence of documentation of genomic services
and potential reasons for lack of documentation.
• Charts randomly sampled from individuals diagnosed with
colon cancer among Veterans of age 50 years and
younger.
• Selected queries of key informants (oncologists
(oncologists,
pathologists) regarding types of documentation expected
genomic services ((e.g.,
g g
genetic testing,
g family
y history).
y)
on g
• Focus group of Veterans cared for in VHA primary care
clinic.
clinic
Results
Genomic Services Documented for Possible HNPCC 2003-2007
Family
y History
y
Colon Cancer
Age 50 or <
(3,282 )
Genetic
Counseling
DNA Analysis
y
N
%
N
%
N
%
220
6.7
<25
0.1
89
2.7
ICD-9 and CPT codes used to determine presence of family history, genetic
counseling, and DNA analysis.
Geographical Variation in Presence of Family History Documentation
Coding of Genomics for Veterans age 50 and under with Colon Cancer
(N= 3,282)
Family History
Counseling
DNA Analysis
N
%
N
%
N
%
Female
35
84
8.4
<25
25
02
0.2
<25
25
19
1.9
Male
185
6.5
<25
0.1
81
2.8
Unknown
<25
8.0
<25
0.7
<25
1.4
Not Married
124
6.5
<25
0.1
62
3.2
Married
85
6.9
<25
0.2
25
2.0
Unknown
127
7.2
<25
0.2
31
1.8
Other
<25
10.4
<25
0.0
<25
5.7
African AM
<25
50
5.0
<25
00
0.0
<25
45
4.5
Caucasian AM
58
6.3
<25
0.1
30
3.3
2-4
163
7.7
<25
0.2
36
1.7
5 or Greater
57
4.9
<25
0.0
53
4.5
GENDER
MARITAL
RACE
CHARLSON
Chart Review
Potential
P
i l reasons ffor llacking
ki d
documentation
i
include:
– Multiple competing health and psychosocial problems
among patients;
– Structure of charts, including clinical reminders, does
not allow for easy or clear documentation of family
history or individualized follow up
up.
Key Informant Results
• Little standardization of services.
• Services, such as genetic counseling, not located
in the VA, but at affiliated medical center.
• Lack of agreement among clinical services about
when to test (e.g.,
(e g oncology versus laboratory).
laboratory)
• VA and academic affiliate differ in policy regarding
genetic testing.
testing
Conclusions
From 2003 to 2007,
2007 little coding of genomic
services for young colon cancer patients.
– C
Coding
di off ffamily
il hi
history
t
more common th
than genetic
ti
counseling or molecular analysis or genetic testing;
• L
Less th
than what
h t would
ld b
be expected
t db
based
d on
previous studies (approximately 20% of colon
cancer cases have positive family history)
history).
– Little variation in coding according to sociodemographic
characteristics.
characteristics
– Substantial variation in coding according to geographic
region.
region
Challenges
• ICD-9
ICD 9 and CPT codes for family history, genetic
counseling, and genetic testing;
• Limitations
Li i i
off sample
l size;
i
• Chart review and key informants in single
geographic area.
Next Steps
• To characterize integration of genomics into
routine colon cancer care in VHA:
– Trends over time and geographic variation;
– Patient, health professional, and organizational
characteristics associated with integration of genomic
services.
To examine barriers and facilitators of integration
genomic information and services into routine
of g
care for
f Veterans diagnosed with colon cancer
– Organization factors;
– Innovation factors;
– Patient factors including complex comorbid conditions
and psychosocial factors.
Triangulation Process
Sampling
p g Process for Qualitative Study
y
Key Messages
Key Messages
• H
Health disparities in genomic health services l h di
ii i
i h lh
i
may be difficult to identify even in an integrated health care system with excellent
integrated health care system with excellent data sources.
• Challenges
Challenges include:
include
• Lack of strong conceptual models that integrate access to care with innovation;
integrate access to care with innovation;
• Limitations of existing administrative data to account for race/ethnicity and for other
to account for race/ethnicity and for other variables that rely on coding;
• Small numbers.
A k
Acknowledgements
l d
t
This work was supported by two VA Health Services Research and Development Service awards to Sara J. Knight, PhD, Interdisciplinary Program to Improve Care for Veterans with Complex Comorbid ,
Conditions, San Francisco VA Medical Center. The contents do not necessarily represent the views of the Department of Veterans Affairs or the United States Government.