Transcript PRIORITIES FOR PUBLIC HEALTH GENOMICS 2012-2017 A Public Health Stakeholder Consultation Co-Authors • Toby Citrin, JD – [email protected] – Center for Public Health and Community Genomics • Stephen M.

PRIORITIES FOR PUBLIC
HEALTH GENOMICS
2012-2017
A Public Health Stakeholder
Consultation
Co-Authors
• Toby Citrin, JD
– [email protected]
– Center for Public Health and Community
Genomics
• Stephen M. Modell, MD, MS
– [email protected]
– Center for Public Health and Community
Genomics
• James O’Leary, BS
– Genetic Alliance
Presenter Disclosures
The following personal financial
relationships with commercial interests
relevant to this presentation existed
during the past 12 months:
No Relationships to Disclose
Our Assignment from CDC/OPHG
April-December 2012
• Center for Public Health & Community
Genomics
– Consult stakeholders from public health
community (academe, practice and community) on
the future of public health genomics in the next
five years
– Collect, categorize, analyze input
– Report findings at a wrap-up conference and in a
written report
• Genetic Alliance
– Convene and organize the wrap-up conference
Planning Committee
• Academe
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Karen Edwards
Sharon Kardia
Barbara Burns McGrath
Sara Shostak
• Practice
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Sylvia Au
Suzanne Cupal
Deb Duquette
Karen Greendale
Planning Committee (Cont’d)
• Community
– Winona Hollins-Hauge
– Imogene Wiggs
• Ex Officio
– Ella Greene-Moton (community liaison)
– Dean Hosgood (APHA Genomics Forum)
Center Staff
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Toby Citrin
Judy Daltuva
Nora Isack
Megan Knaus
Sally Meyer
Stephen Modell
Tevah Platt
RFI Responses
• 62 responses
• Site for review of responses:
http://www.regulations.gov/#!docketDetail;dct=F
R+PR+N+O+SR+PS;rpp=10;po=0;D=CDC2011-0008
• Spreadsheet and summaries in background
materials of written report
Interviews (9)
• Practice
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Jean Chabut
Maxine Hayes
Stephen Teutsch
Deborah Klein Walker
• Academe
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Wylie Burke
Kim Kaphingst
Chris Kuzawa
Ken Olden
• Community: Chickezie Maduka
Informal Discussions (3)
• National Community Committee –
Special Interest Group on Genomics
• Public Health Practice
• Genetic Alliance Annual Meeting –
“breakfast discussion”
Process Involved
• Selection of Planning Committee
• Themes identified from literature
• RFI data organized into Word tables
and mapped on Nvivo
• Planning Cmte. summary data review
• Topics areas and sub-themes refined
• Data organized into recommendations,
then refined after Bethesda meeting
• Compilation of final report
Literature Review
• Workshops – Conferences – Reports Program Reviews & Strategic Plans
• Articles on the Future of Public Health
Genomics
• Articles on Stakeholder Consultation
Other Studies; Reports
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Healthy People 2020
CDC/OPHG 10th Year Report (2008)
HRSA Strategic Plan
NHGRI Strategic Plan
IOM Roundtable on Translating Genomic-based
Research for Health
GAPPNet
Public Health Genomics Conference (2010)
SACGHS Education & Training Report (2011)
NHGRI Genomic Literacy Conference (11/2011)
Procedural Strengths
• Preliminary work already done by CDC Office of
Public Health Genomics
• Combination of federal RFI and University
expertise allowed for quick turn-around
• Knowledgeable Planning Committee advised on
both general (e.g., frameworks) and specific
(e.g., structuring of meetings) items
• Umbrella community and genetics advocacy
organizations aided in recruitment and
information gathering
Procedural Weaknesses
• Federal restriction to 9 key informant interviews
• Scope of the project limited the number of
assessment avenues. Wiki had to be deferred.
• Short time window influenced information
collation techniques used.
The Context
Past, Promise and Potential
• Progress in specific interventions, e.g.:
– Newborn Screening
– BRCA and Lynch Syndrome testing
– Sudden cardiac death
• We’re a “half-way technology” needing translation,
evidence and guidelines
• Near unanimous agreement by “insiders” on broader
promise of public health genomics
• Lack of understanding or appreciation by “outsiders”
of potential value of genomics to all of public health
What We Learned
Education
What We Learned
Education -Health Literacy Professional Training
• Need for education of
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the workforce (See SACGHS Report)
The public (“we’re still genomically illiterate”)
K-12
policy makers
What We Learned
Health Applications:
Chronic Disease – Family Health History
• Increased emphasis on family history
– Utilization by health depts. for risk
identification and early implementation of
preventive measures
– Integration with EMRs – bridge between
public health and medicine
– Need for validation, integration, marketing
Research
What We Learned
Research: Translational – Impact on
Health Outcomes
• Research base for decisions on screening
• Cost-effectiveness of genetic technologies (e.g.,
family history)
• “Research [providing] evidence that the segmentation
of populations by genomic characteristics
would…achieve greater effectiveness and efficiency
across a range of public health interventions, especially
in the fields of obesity, diabetes, stroke, cancer and
heart disease, and in neurodegenerative disorders.” –
Ron Zimmern
What We Learned
Research: Translational – Impact on
Health Outcomes (Continued)
• “…public health genomics demands that we
understand—and address—how unequally
distributed exposures, resources, and other factors
outside the body enter into molecular processes to
shape health and illness within and across
populations.” – Sara Shostak
What We Learned
Research – Infrastructure and Focus
• Integration of data sets/registries/tissue banks
for research
• Database cataloguing genetics, physical and
social environment, determinants of health
• Research focus toward public health goals
and methods
• Role of CDC/OPHG – warehousing,
guidance; “ushering” through the translation
process
What We Learned
Assurance – Evidence Base
• Systems providing information on validity and
utility of genetic tests
– e.g., EGAPP but not as slow
– OPHG role as trusted source of evidence
• “Leverage electronic healthcare infrastructure
to achieve several goals: outcomes research,
quality improvement, decision support.”
– RFI Response
Policy Development
What We Learned
Policy Development
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Population level genetic screening
Utilization of family health history
FDA oversight of genetic tests
Advisory panel on multiplex screening
Regulation of direct-to-consumer testing
Funding
What We Learned
Funding
• Support for state-level utilization of genomics
professionals
• Support for integration of genomics
throughout public health practice
• Funding of gene x environment research
bridging between medicine and public health
• Funding CBPR utilizing genomic approaches
• Funding to assure equal access to genetic
testing
Collaborations - Partnerships
What We Learned
Crosscutting:
Collaborations - Partnerships
• Personalized medicine advisory board
within OPHG
• NIH, AHRQ, CDC, CMS collaboration
on evidence-based approaches
• State level: Chronic disease, labs, MCH
and NBS collaboration
What We Learned
Crosscutting:
Collaborations – Partnerships (Cont’d)
• Schools of Public Health with State
Health Departments
• Public-Private (e.g., with DTC
companies)
• Transdisciplinary research teams
(genetics, social, behavioral)
• Enhanced stakeholder engagement,
coordination and leadership
Role of CDC/OPHG in Furthering
Collaborations and Partnerships
• Convener, e.g.,
– with PRCs; chronic disease programs
– Fostering interdisciplinary research
• Advocate
– Liaison with APHA Genomics Forum
• Need for Advisory Group of stakeholders
Frameworks for Organization
• Core Functions (IOM “Future” 1988)
• From Genes to Public Health (Khoury, AJPH,
1996)
• Core Functions & Essential Services
– Public Health in America – 1994
– ASTHO - 2001)
• Ecological View (IOM “Future” 2002)
– Strengthen all sectors of public health
Health Disparities
Community Engagement
What We Learned
Health Disparities
Community Engagement
• Gene x Environment – Epigenetic Research
focused on health disparities
• Community-Based Participatory Research
incorporating genomics (e.g. by PRC’s)
• “continue to seek out [the grassroots voice of the
community], embracing the idea that community
lies at the heart of public health….”
– Ella Greene-Moton
Priorities Conference
• September 14, 2011
• Over 70 leaders in public health
genomics
– Academe, public health, health care,
community
Priorities Conference
Overarching Objectives
• Improve public education about
genetics through community
engagement
• Continue working on issues related to
evidence development
• Take a bottom-up approach to
technology development
Priorities Conference
Overarching Objectives
• Embed genetics into all aspects of
healthcare
• Expand public health screening
programs that utilize genetic information
– Relates to cascade screening
recommendations in earlier presentation by
Scott Bowen, et al
Summary
1. PH Genomics has already achieved an impressive
track record in addressing less common diseases
and has demonstrated its significant potential to
advance all areas of public health
2. Currently available genetic tools still need to be
embraced by public health (e.g., those described by
Scott Bowen, et al, earlier in this session)
3. Realizing the future potential of PH genomics will
require
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Leadership and a common vision
Collaboration among currently separate groups
Infrastructure and education
Advocacy to secure resources and policies
Written Report – email:
• [email protected]