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Genomic Medicine Program Ronald M' Przygodzki, MD Associate Director, Genomic Medicine ORD March 200


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Title: Genomic Medicine Program Ronald M' Przygodzki, MD Associate Director, Genomic Medicine ORD March 200

Genomic Medicine ProgramRonald M. Przygodzki,
MDAssociate Director, Genomic Medicine
ORDMarch 2008
What is Genomic Medicine?
  • Genomic Medicine (personalized medicine) is
    healthcare tailored to an individual based on
    their genetic makeup (genes).
  • Genes are the basis for all our characteristics.
  • There are about 25,000 genes in a human cell.
  • In 2003, the entire human genome was sequenced.
  • This has resulted in an explosion in new and
    advanced technologies.

VA Genomic Medicine Program
  • VA launched the Genomic Medicine Program in 2006
  • Optimize medical care for veterans (for example,
    avoid adverse drug reactions)
  • Enhance development of tests and treatments for
    relevant diseases
  • Examine the potential of emerging genomic

VA Genomic Medicine Program (contd)
  • VA is uniquely positioned to implement the
    genomics medicine program
  • Largest healthcare system in the US, providing
    care for gt5.3 million veterans
  • Equipped with an unrivaled electronic medical
    record system
  • Stable and diverse patient population

VA Genomic Medicine Program (contd)
  • Veterans may volunteer to participate
  • Provide blood sample for genetic analysis
  • Genetic information linked to their electronic
    health records

  • VA Secretary established Genomic Medicine Program
    Advisory Committee (GMPAC)
  • GMPAC felt earning trust of and partnering with
    veterans was paramount
  • Recommended VA assess veterans knowledge,
    attitudes, and beliefs about genomic medicine and
    research participation

Veteran Consultation Project
  • VA moved to assess veterans knowledge and
    attitudes in 2007.
  • VA established inter-agency agreement (IAA) with
    National Human Genome Research Institute (NHGRI)
    to add veteran-specific component to their
    ongoing project to assess public attitudes toward
    genomic medicine.

Veteran Consultation Project (contd)
  • NHGRI project conducted by Genetics and Public
    Policy Center (GPPC) at Johns Hopkins University
    (PI Kathy Hudson)
  • GPPC will conduct veteran focus groups and
    surveys over a 1-year period

Focus Groups
  • Knowledge and attitudes about genomic medicine
  • General acceptability of proposed goals and
    methods of VA genomic studies
  • Areas of concern
  • Methods of recruitment and consent issues
  • Role of Veteran Service Organizations (VSOs)
  • Expectations of potential participants with
    regard to confidentiality, privacy, and security
  • Use of research findings
  • Return of results, ongoing communication, etc.

Focus Groups (contd)
  • Nine focus groups were conducted (10-12
    participants in each group).
  • Focus group guides and questions were developed
    in consultation with VACO.

Focus Groups (contd)
  • Veterans were recruited from
  • Local chapters of VSOs that reflect the diversity
    of veterans using VA healthcare system
  • VAMCs, VA Community-Based Outpatient Clinics, and
    VET Centers (Readjustment Counseling Centers)
    from various geographic regions and demographic

Focus Groups (contd)
Initial Observations from Focus Groups
  • Areas of optimism include
  • Altruism and a sense of community
  • No expectations of compensation for participation
  • Community leaders to voice their
  • Appreciative of being consulted
  • Generally knowledgeable about genetics

Initial Observations from Focus Groups (contd)
  • Areas of concern include
  • Trust issues
  • Data privacy, security, and access
  • Data sharing (trusted VA and academic researchers
    but not the commercial sector)
  • Loss of benefits

  • Based on issues raised in focus groups, GPPC
    will develop internet-based survey
  • Plan to survey 850 veterans, including those
    receiving their healthcare through VA

Fears about Genetic Research
  • Genetic information could be used against people
    by employers or insurers
  • To counteract concern, House passed the Genetic
    Information Nondiscrimination Act (2007), which
    is expected to be passed in Senate and signed
    into law soon.

Fears about Genetic Research (contd)
  • Veterans benefits would be affected if shown to
    have genetic disposition to a disease
  • Having dealt with genetically based diseases,
    consistent position of VA that genetic disease
    that first appears during a period of active
    service constitutes a service-connected condition
  • Genomic medicine program aims only to improve
    effectiveness of VAs health care system

Data and Sample Sharing Policy
  • Samples and data will only be available to VA
  • Policy may change to reflect veterans attitudes
    revealed in Veteran Consultation Project focus
    groups and survey.

GMPAC Working Groups
  • Ethics Advisory - ethical considerations, esp.
    informed consent of special populations
  • Hereditary Non-Polyposis Colon Cancer (HNPCC) -
    research on routine genetic/genomic analysis for
    clinical management of HNPCC sporadic colon
  • Endocrine Tumors - research on routine
    genetic/genomic analysis for clinical management
    of tumors with known genetic abnormalities

Infrastructure Development
  • DNA Bank/Biorepository (Boston VA)
  • About 30,000 blood samples collected as part of
    CSP trials
  • Pharmacogenomics Analysis Laboratory (Little
  • Educational toolscollaboration between VA
    Employee Education Resource Center and National
    Coalition ofr Health Professionals Education in
    Genetics (NCHPEG)
  • Assessing current capabilities and activities
    related to genomics at VAMCs

Ongoing Genomics/ Genetics-Related Projects
  • VA funds 142 investigator-initiated Merit Review
  • Cover wide spectrum of conditions prevalent in
    veterans schizophrenia, PTSD, bipolar disorder,
    substance abuse, Alzheimers, cardiovascular
    disease, diabetes, cancer (prostate, breast,
    colon, bladder, lung), stroke, chronic viral
    infections, autoimmune disorders, Gulf War
    Illness, etc.
  • Genetic-association, pharmacogenomics
  • Candidate gene analysis, SNP analysis, linkage
    studies, microarrays, si RNA, gene expression

Studies in Planning
  • Serious Mental Illness Cohort Study
  • Concept letter approved for planning/submitting
    full proposal to CSP
  • Goal to develop 3 longitudinal cohorts, each
    consisting of 5000 veterans suffering from 1)
    schizophrenia or 2) bipolar disorder or a 3)
    control group
  • Genome-wide association studies
  • Variants that contribute to functional disability
  • Responsiveness to therapy
  • Drug toxicity

Studies in Planning (contd)
  • PTSD Genetics Working/Planning Group
  • Goal to explore/ define basis to conduct research
    on PTSD through development of new/ expansion of
    current cohorts (e.g., ongoing CSP clinical
  • Via careful clinical characterization and genetic
    analyses, cohort should be longitudinally
  • Use cohort to determine genetic variants
    contributing to PTSD risk, as well as treatment
    response and outcomes.

Interactions With Other Organizations
  • VA involved in ongoing discussions and in working
    groups with
  • Pharmacogenetic Research Network, supported by
    several NIH Institutes
  • National Human Genome Research Institute (NHGRI)
  • Institute of Medicine Roundtable on Translating
    Genomic-Based Research for Health
  • American Health Information Community (AHIC)

Tissue Banking Policies
  • January 2008

Topics Covered
  • Definitions of human biological specimens,
    banked specimens, and de-identified
  • On-site tissue banks
  • Off-site tissue banks
  • Specimens stored at non-academic, for-profit
  • Applying for an off-site waiver
  • Elements required in an informed consent

Human Biological Specimens
  • Any material derived from a human subjectsuch as
    blood, urine, tissues, organs, hair, nail
    clippings, or any other cells or fluids
  • Whether collected for research purposes or as
    residual specimens from diagnostic, therapeutic,
    or surgical procedures

Banked Specimens
  • Biological specimens collected and stored for
    future research purposes that are beyond the
    scope of work described in the original protocol
    and informed consent
  • OR
  • Biological specimens collected under a protocol
    designed for banking of specimens

Non-Banked Human Biological Specimens
  • Human biological specimens collected under a
    VA-approved protocol that are used for only the
    specific purposes defined in the protocol and are
    destroyed when the specific testing/use is
    completed or at the end of the protocol
  • Important Notes
  • If specimens are stored off-site at a non-profit
    institution ?5 years, then the investigator must
    obtain a waiver from ORD.
  • If specimens are stored off-site at a
    non-academic, for-profit institution for gt3
    months, a waiver must be obtained from ORD.

Non-Banked Specimens
  • If the specimens are sent to a non-VA institution
    for testing as defined in the protocol, once the
    specific analyses are performed, the remainder of
    the specimens must be destroyed or returned to
    the VA for destruction.
  • If the specimens are destroyed at another
    institution, that institution must certify the
    destruction of the specimens in writing.

  • De-identified data is health or other
    information about an individual that
  • Does not contain any of the 18 HIPAA identifiers
  • AND
  • Is de-identified according to the Common Rule
  • Coded information is not considered
    de-identified if the tissue bank or data
    coordinating center has access to the codes.

HIPAA Identifiers
  • Names or initials
  • All geographic subdivisions smaller than a state
  • All elements of dates except the year and all
    ages over 89
  • Telephone numbers
  • Fax numbers
  • E-mail addresses
  • Social Security numbers (or scrambled SSNs)
  • Medical record numbers
  • Health plan beneficiary numbers

HIPAA Identifiers (contd)
  • Account numbers
  • Certificate or license numbers
  • Vehicle identifiers
  • Device identifiers and serial numbers
  • URLs
  • IP addresses
  • Biometric identifiers, including finger and voice
  • Full-face photographs and any comparable images
  • Any other unique identifying number,
    characteristic, or code

On-Site Tissue Banks
  • A tissue bank established at a VA site by a
    VA-paid investigator does not require ORD
  • The ACOS/R or research office should maintain
    records of all tissue banks within the facility.

On-Site Tissue Banks (contd)
  • If a VA site does not have the resources to bank
    specimens, then they may be banked at any VA site
    that has an established tissue bank.
  • Alternatively, specimens may be banked at the
    Massachusetts Veterans Epidemiology Research and
    Information Center (MAVERIC) core laboratory at
    the Boston VA. It serves as the Cooperative
    Studies Program (CSP) Genetic Tissue Core
  • Either option is considered on-site banking.

Off-Site Tissue Banks
  • The researcher must obtain a waiver from ORD
    before banking human biological specimens at an
    off-site location.
  • Off-site tissue banks are approved on a per
    protocol basis.
  • Exception National Cancer Institute
    (NCI)-sponsored cooperative tissue banks listed
    on the next slide. As a result of a letter of
    understanding with the NCI, these banks are
    designated as VA-approved if they are used for
    one of their protocols (for example, the
    SWOG-supported tissue bank can be used for SWOG
    protocols without ORD approval).

VA-Approved NCI Tissue Banks
  • Clinical Trials Cooperative Groups Tissue
  • American College of Surgeons Oncology Group
  • Cancer and Leukemia Group B (CALGB)
  • Eastern Cooperative Oncology Group (ECOG)
  • Gynecologic Oncology Group (GOG)
  • North Central Cancer Treatment Group (NCCTG)
  • National Surgical Adjuvant Breast and Bowel
    Project (NSABP)
  • Radiation Therapy Oncology Group (RTOG)
  • Southwest Oncology Group (SWOG)
  • National Cancer Institute of Canada Clinical
    Trials Group (NCIC CTG)
  • Cooperative Breast Cancer Tissue Resource
  • Cooperative Human Tissue Network
  • Gynecologic Oncology Group Tissue Network
  • Cancer Prevention Network

Banked Specimens
  • Specimens may not be banked at a non-academic,
    for-profit institution
  • Specimens must be labeled with a code that does
    not contain any of the 18 HIPAA identifiers.
  • The key to the code must be maintained at the VA
    unless there is a compelling reason otherwise.

Data Related to Banked Specimens
  • If data linked to the sample leaves the VA, then
    it must be de-identified or stored in a database
    that is encrypted according to FIPS 140-2
  • See VA Handbook 6500 Information Security.

Non-Banked Specimens Stored at Non-Academic
For-Profit Sites
  • If the specimens are held for gt3 months, then a
    waiver must be obtained from ORD.
  • Only analyses/tests listed in the protocol and
    informed consent may be performed.
  • The code must be maintained at the VAMC.
  • All specimens and associated data must be
  • DNA and RNA may not be analyzed.
  • The company must inform the PI in writing when
    samples are destroyed.

Non-Banked Specimens Stored at Non-Academic
For-Profit Sites (contd)
  • HIPAA authorization must expire.
  • Case reports may not contain initials if they
    leave VA.
  • Specimens must be destroyed upon request of the
  • Before company personnel may view files at the
    VA, they must complete VA security and privacy
  • Specimens must be destroyed within 1 year of the
    study completion date.

Application Process
  • The investigator must complete VA form 10-0436.
    This is a pdf form that can be filled in and
    saved using Acrobat Reader version 7 or higher
  • The information requested on page 5 of the
    application can be scanned and attached to the
    pdf or to the e-mail.
  • Biographical sketch of the PI
  • Research protocol
  • Tissue bank manual or SOPs
  • VA consent form

Application Process (contd)
  • The application should be e-mailed to Marilyn
    Mason ( The ACOS/R must be
    carbon copied.
  • Alternatively, the form and requested information
    can be mailed to the address given on the form.

Application Process (contd)
  • After the application is reviewed, the PI and
    ACOS/R will receive a memo listing any issues
    found with the application. Frequently, the
    informed consent needs to be modified.

Multi-Site Trials
  • If several VAMCs are planning to participate in
    the same clinical trial, then only one of the VA
    sites needs to apply for a waiver.
  • A list of multi-site clinical trials in which
    more than one VAMC is participating is posted on
    the VA RD web site. (http//

Informed Consent
  • Several elements must be included in an informed
    consent when the protocol involves bankingeither
    on-site or off-site of human biological
  • The elements are important for transparency to
    the subject.
  • The list of elements is posted on the VA RD web
    site, and some are given on the next slide.

Informed Consent (contd)
  • Some informed consent elements
  • Types of samples stored and length of time to be
  • Name and location of tissue bank
  • Types of future studies
  • Subject may withdraw from the study and request
    that his/her samples be destroyed
  • If the specimen will be shared with other
    researchers for approved research protocols

Informed Consent (contd)
  • The informed consent does not need to narrowly
    specify the future uses of the banked specimens.
  • But if it is not specific, in the consent form or
    during the consent process, the PI should explain
    what such phrases as related diseases or
    unspecified research means for the use of the
    sample and the impact on the subject.

Contact Information
  • For additional information and questions, contact
    Marilyn Mason
  • E-mail
  • Phone 202-254-0496
  • Fax 202-254-0521