genomic medicine program ronald m przygodzki md associate director genomic medicine ord march 2008 l.
Download
Skip this Video
Loading SlideShow in 5 Seconds..
Genomic Medicine Program Ronald M. Przygodzki, MD Associate Director, Genomic Medicine ORD March 2008 PowerPoint Presentation
Download Presentation
Genomic Medicine Program Ronald M. Przygodzki, MD Associate Director, Genomic Medicine ORD March 2008

Loading in 2 Seconds...

play fullscreen
1 / 49

Genomic Medicine Program Ronald M. Przygodzki, MD Associate Director, Genomic Medicine ORD March 2008 - PowerPoint PPT Presentation


  • 168 Views
  • Uploaded on

Genomic Medicine Program Ronald M. Przygodzki, MD Associate Director, Genomic Medicine ORD March 2008. What is Genomic Medicine?. Genomic Medicine (personalized medicine) is healthcare tailored to an individual based on their genetic makeup (genes).

loader
I am the owner, or an agent authorized to act on behalf of the owner, of the copyrighted work described.
capcha
Download Presentation

Genomic Medicine Program Ronald M. Przygodzki, MD Associate Director, Genomic Medicine ORD March 2008


An Image/Link below is provided (as is) to download presentation

Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author.While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server.


- - - - - - - - - - - - - - - - - - - - - - - - - - E N D - - - - - - - - - - - - - - - - - - - - - - - - - -
Presentation Transcript
genomic medicine program ronald m przygodzki md associate director genomic medicine ord march 2008

Genomic Medicine ProgramRonald M. Przygodzki, MDAssociate Director, Genomic Medicine ORDMarch 2008

what is genomic medicine
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 Genomic Medicine Program
  • VA launched the Genomic Medicine Program in 2006 to
    • 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 technologies
va genomic medicine program cont d
VA Genomic Medicine Program (cont’d)
  • VA is uniquely positioned to implement the genomics medicine program
    • Largest healthcare system in the US, providing care for >5.3 million veterans
    • Equipped with an unrivaled electronic medical record system
    • Stable and diverse patient population
va genomic medicine program cont d5
VA Genomic Medicine Program (cont’d)
  • Veterans may volunteer to participate
    • Provide blood sample for genetic analysis
    • Genetic information linked to their electronic health records
implementation
Implementation
  • 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
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 cont d
Veteran Consultation Project (cont’d)
  • 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
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 cont d
Focus Groups (cont’d)
  • Nine focus groups were conducted (10-12 participants in each group).
  • Focus group guides and questions were developed in consultation with VACO.
focus groups cont d11
Focus Groups (cont’d)
  • 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 groups
initial observations from focus groups
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 opinions/concerns
    • Appreciative of being consulted
    • Generally knowledgeable about genetics
initial observations from focus groups cont d
Initial Observations from Focus Groups (cont’d)
  • 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
survey
Survey
  • 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
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 cont d
Fears about Genetic Research (cont’d)
  • Veteran’s 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 VA’s health care system
data and sample sharing policy
Data and Sample Sharing Policy
  • Samples and data will only be available to VA researchers.
  • Policy may change to reflect veterans’ attitudes revealed in Veteran Consultation Project focus groups and survey.
gmpac working groups
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 cancer
  • Endocrine Tumors - research on routine genetic/genomic analysis for clinical management of tumors with known genetic abnormalities
infrastructure development
Infrastructure Development
  • DNA Bank/Biorepository (Boston VA)
    • About 30,000 blood samples collected as part of CSP trials
  • Pharmacogenomics Analysis Laboratory (Little Rock)
  • Educational tools—collaboration 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
Ongoing Genomics/ Genetics-Related Projects
  • VA funds 142 investigator-initiated Merit Review projects
    • Cover wide spectrum of conditions prevalent in veterans: schizophrenia, PTSD, bipolar disorder, substance abuse, Alzheimer’s, 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
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 cont d
Studies in Planning (cont’d)
  • 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 trials).
    • Via careful clinical characterization and genetic analyses, cohort should be longitudinally available.
    • Use cohort to determine genetic variants contributing to PTSD risk, as well as treatment response and outcomes.
interactions with other organizations
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)
topics covered
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 institutions
  • Applying for an off-site waiver
  • Elements required in an informed consent
human biological specimens
Human Biological Specimens
  • Any material derived from a human subject—such 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
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
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 >3 months, a waiver must be obtained from ORD.
non banked specimens
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
De-identified

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
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 cont d
HIPAA Identifiers (cont’d)
  • Account numbers
  • Certificate or license numbers
  • Vehicle identifiers
  • Device identifiers and serial numbers
  • URLs
  • IP addresses
  • Biometric identifiers, including finger and voice prints
  • Full-face photographs and any comparable images
  • Any other unique identifyingnumber, characteristic, or code
on site tissue banks
On-Site Tissue Banks
  • A tissue bank established at a VA site by a VA-paid investigator does not require ORD approval.
  • The ACOS/R or research office should maintain records of all tissue banks within the facility.
on site tissue banks cont d
On-Site Tissue Banks (cont’d)
  • 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 Laboratory.
  • Either option is considered on-site banking.
off site tissue banks
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
VA-Approved NCI Tissue Banks
  • Clinical Trials Cooperative Groups Tissue Resources
    • American College of Surgeons Oncology Group (ACOSOG)
    • 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 specimens38
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
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 standards.
  • See VA Handbook 6500 “Information Security.”
non banked specimens stored at non academic for profit sites
Non-Banked Specimens Stored at Non-Academic For-Profit Sites
  • If the specimens are held for >3 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 de-identified.
  • 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 cont d
Non-Banked Specimens Stored at Non-Academic For-Profit Sites (cont’d)
  • HIPAA authorization must expire.
  • Case reports may not contain initials if they leave VA.
  • Specimens must be destroyed upon request of the subject.
  • Before company personnel may view files at the VA, they must complete VA security and privacy training.
  • Specimens must be destroyed within 1 year of the study completion date.
application process
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 (http://www.va.gov/vaforms/medical/pdf/vha-10-0436-fill.pdf).
  • 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 cont d
Application Process (cont’d)
  • The application should be e-mailed to Marilyn Mason (Marilyn.Mason@va.gov). 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 cont d44
Application Process (cont’d)
  • 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
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 R&D web site. (http://www.research.va.gov/programs/tissue_banking)
informed consent
Informed Consent
  • Several elements must be included in an informed consent when the protocol involves banking–either on-site or off-site– of human biological specimens.
  • The elements are important for transparency to the subject.
  • The list of elements is posted on the VA R&D web site, and some are given on the next slide.
informed consent cont d
Informed Consent (cont’d)
  • Some informed consent elements
    • Types of samples stored and length of time to be stored
    • 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 cont d48
Informed Consent (cont’d)
  • 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
Contact Information
  • For additional information and questions, contact Marilyn Mason
    • E-mail: Marilyn.Mason@va.gov
    • Phone: 202-254-0496
    • Fax: 202-254-0521