Presentation by Gail Jarvik, University of Washington

NWIGM Leadership
Gail Jarvik
Medical Genetics
Peter Tarczy-Hornoch
Biomedical Informatics,
Pediatrics, Computer Science
Debbie Nickerson
Genome Sciences
NW Genome Center
Bruce Weir
Biostatistics
Mike Bamshad
Pediatric Genetics
Supported by
Eric Larson,
Group Health Research
Institute
Motivation: Genetic Medicine is Transformational
“Traditional one-size-fits-all treatments must be
tailored to the individual…if we’re smart enough, we
will be able to preempt disease” Elias Zerhouni, NIH Medline Plus, 2007
“Personalized medicine remains one of the most
compelling opportunities we have to improve the
odds of staying healthy” Francis Collins, Boston Globe Op-ed, 2005
“Individualized medicine offers the potential for better
targeting populations so screening efforts can be used
more efficiently…cost savings materialize… they will
primarily be population-based...” James P. Evans, JAMA, 2007
NWIGM.ORG
Institutional/Regional Strengths
• Leaders in genetics and genomics
– Genomics
– Genetic Bioethics, IRB, data-sharing
– Biostatistics and Statistical Genetics
– Medical Genetics Clinic and training
program
• Repository opportunities
• Many true translational genetics
projects and opportunities
NWIGM.ORG
NWIGM Goals
To facilitate the design, development, and
execution of translational genetic studies
that bridge basic and clinical research at
academic institutions and biotechnology
companies
Funded 9/2008 thru 8/2012 by an LSDF
award
NWIGM.ORG
IGM Specific Aims
1. To enhance the capabilities of investigators to carry out cutting edge
research on the etiology, prevention, and treatment outcomes of common
human disease by the following activities:
-study design, grant writing, pilot data
-subjects (biorepository with EMR, human subjects)
-informatics (extract phenotypes, database)
-innovative technology (high-throughput genotype, sequencing,
and proteomics)
-innovative statistical analysis
2. Initiate outcomes research on the clinical use of genetic technology
3. Assist in the protection of research subjects and explore the ethical
delivery of genetic medicine
4. Facilitate communications among the faculty, trainees, and industry
partners working in translational genetic medicine
NWIGM.ORG
Major NWIGM activities: Research support
Access by request or by RFA.
Study design and grant writing
• Genetic design
• Subject collection methods
• Technology methods (boilerplate on web)
• Biostatisticians: Analysis methods (Boilerplate on web),
writing and editing
• All NIH genetic/genomic RFAs are posted on web
• Named personnel for grants, wrote budgets and justifications
NWIGM.ORG
Major NWIGM activities: Genetic outcomes
Offer out for outcomes position
Outreach to existing UW outcomes community
Project underway:
Follow-up of women who received inconclusive
breast/ovarian cancer test results
Evaluating informatics to facilitate genetic outcomes
research.
NWIGM.ORG
Major NWIGM activities: Ethics
IRB and ethics (Pyne, Jarvik, Nickerson)
Strong input into UW IRB procedures
• Established guidelines for dbGaP posting
• Model language for dbGaP consent (also for VAMC)
• With Bioethics, reviewed IRB genetics forms and new
proposed genetics form.
• Key IRB assistance to >$34 million dollars worth of
exome ARRA grants
• Review of UW genetic identifiability criteria
• Education of outside IRBs
• Biorepository support
With Bioethics,
• Initiated a catalyst survey of investigators
• Return of genetic results to research subjects
• Seminars
NWIGM.ORG
Major NWIGM activities: communication
-NWIGM.ORG webpage
Seminars, NIH RFAs,
grant boilerplate
-Annual retreat (standing room only!)
-Regional Clinical Genetics meeting
-Seminars
-Networking for investigators
-Identification of technology services
NWIGM.ORG
Use of NWIGM Resources
• Biostatistics and Statistical Genetics support: currently
supporting 11 genetic projects
• Power calculations and methods for grants
• Data formatting, coding, cleansing
• analyses & tutorials
• IRB expertise in genetic research
IRB approval of 10 new applications & 7 modifications in 2009.
Communication with over 92 individuals regarding genetic IRB
issues regarding:
• Pioneering IRB submission protocols to national
databases (dbGaP) for several institutions
• Producing template language for genetic studies and
consent forms
• Participation in ad hoc IRB committees for
standardization of practices related to genetic studies
NWIGM.ORG
Major NWIGM activities: Research support
Pilot data (RFAs for services, not $)
• Biorepository, began cohort of 1500 subjects aged 50-65
years from Group Health (EMR, DNA, and plasma)
• Atherosclerosis Biorepository (case-control)
• Clinical Genetics Biorepository
• Facilitated pilot data from existing studies
• IRB support (full-time staff)
• Technology (e.g. genotyping, copy number variation arrays,
sequencing)
• Collect new samples
• Informatics (Hired new faculty)
NWIGM.ORG
Progress to Date
• All milestones met including:
– 6 ARRA grants (5 UW, Nickerson (2), Reiner,
Wurfel, Bamshad, 1 FHCRC, Carlson); 1 RO1, 2
supplements funded
– Current grant round, 4 resubmissions supported
– Biorepository is collecting blood samples at a rate
of 30 per week
– Multiple collaborations with Academia and Industry
– 3 seminars and 1 meeting held in 2009
– 2009 retreat – standing room only; 2010 retreat
scheduled for June 10th
– 10 investigators awarded RFAs, new RFA out
NWIGM.ORG
Projects supported: fellow to faculty transition
Fuki Hisama, MD (Medicine)
•Genetics clinic registry
•Colon polyps/cancer
•Rare muscle disease
Jerry Kim, MD (Anesthesia)
•Pediatric infection outcomes
•Malignant hyperthermia
Heather Mefford, MD, (Pediatrics)
•Epilepsy
NWIGM.ORG
Progress to date (continued)
Supported 10 RFAs for significant support
Project
Design/
Biostats
Research
Coordinator
Genomic
Technol
Sample
handling
Genetic Registry & Repository
X
X
X
X
Sleep disturbance
X
X
X
X
Epilepsy
X
Septicemia in children
X
Joubert syndrome
X
Lupus (SLE)
X
Acute kidney injury
X
Rare Mendelian disorders
X
X
X
X
X
X
Health risk assessment
X
Ethics
X
Summarizing the Progress to Date
• Over 150 investigators supported in
scientific goals
• Over 20 UW departments supported
• Over 24 academic/research institutions
supported
NWIGM.ORG
Diseases Investigated with NWIGM Support
Pediatric:
Congenital Heart
Cranio-Synotosis
Cystic Fibrosis
Defects
Distal Arthrogryposis 5
Hallermann-Streiff
Syndrome
Kabuki Syndrome
Miller Syndrome
Nager Syndrome
Osteogenesis, V, VI, VII
Pediatric lung disorders
Vascular:
Atherosclerosis
Blood clots
Diabetes
Lipid metabolism
Stroke
Neurological:
Alzheimer disease
Dementia
Epilepsy
Hereditary neurological disorders
Joubert Syndrome
Dystonia
Pontine Tegmental Cap Dysplasia
Sleep disturbance
Spinocerebellar Ataxia
Werner’s Syndrome
Immune:
Autoimmune disease Idiopathic
Lupus
Oral yeast
Purpura
Septicemia
Thrombocytopenic
Cancer:
BRCA 1/2 risk
Breast Cancer
Colon polyps and cancer
Esophageal cancer
Lung cancer
Pancreatic cancer
Other:
Acute kidney injury
Cirrhosis
Erectile dysfunction
Fractures
Genomic data sharing
Health Risk Appraisals
Personalized med-learning
health care
Returning genetic results
Urological complications
NWIGM.ORG
UW use of NWIGM Support
Anthesthiology
Biostatistics
Bioethics & Humanities
Biophysics
Cytogenetics
Dentistry
Epidemiology
Endocrinology
Gastroenterology
Genome Sciences
Harborview Medical Center
Hematology
Human Subjects Division
Infectious Diseases
Medical Genetics
Medical Genetics Clinic
Nephrology
Neurology
Pathology
Pediatrics
Psychiatry & Behavioral Sciences
Pulmonary Critical Care
Rheumatology
Social Development Research Group
Stem Cell Center
Urology
NWIGM.ORG
External Institutions utilizing NWIGM
Local:
Benaroya Research Institute
(Nepom LSDF program)
Fred Hutchinson Cancer Research Center
Group Health
HMO Research Network
Microsoft Health Solutions
SAGE
Seattle Children's Hospital
Quorum Review IRB
Virginia Mason Medical
National/International:
Affymetrics
Complete Genomics
Helicos BioSciences
Illumina
Merck Pharmaceutical
Progeny
Wellcome Trust
12 non-regional Universities
NWIGM.ORG
Future of NWIGM: initiatives
•Exomics
•Full sequencing of the coding regions of
the genome
•LSDF investment
•~$33 M in grants
•Dozens of diseases
•UW, SCH, GH
patients
NWIGM.ORG
Future of NWIGM: initiatives
•Induced pluripotent stem (iPS) cells
reprogramming from adult specialized cells
(eg skin) to cells that can differentiate into
any tissue
•Strong stem cell group
•Incorporating sequencing
NWIGM.ORG
Future of NWIGM: ITHS support
• NWIGM offers
• Vertical strength in genetics and genomics
• International reputation
• Focus of NIH funding
• Needed across many ITHS supported
institutions and departments
• Proven success and productivity
• Nickerson genomic technology cost center
• Distinguish our ITHS from other ITHS’s
•Improve ITHS renewal application
NWIGM.ORG
NWIGM thanks you!
NWIGM.ORG