Shona R. Whitehead
Program Coordinator
Heartland Genetics and Newborn Screening Collaborative
405-271-8001 ext. 42190
-----Original Message-----
From: Williamson, Lori L. (HSC)
Sent: Monday, February 16, 2009 12:05 PM
To: Whitehead, Shona R. (HSC)
Subject: FW: Summary of Genome Meeting
________________________________________
From: [nsgc-list] Wendy Uhlmann [[log in to unmask]]
Sent: Monday, February 16, 2009 8:43 AM
To: Williamson, Lori L. (HSC)
Subject: Summary of Genome Meeting
Dear Colleagues:
The National Advisory Council for Human Genome Research (NACHGR) met on February 9, 2009. You can download the agenda at
www.genome.gov/27530008
and Dr. Alan Guttmacher's Acting Director's Report (which has links to several pertinent articles and press releases at
www.genome.gov/27530011 .
Some highlights:
The NHGRI, as part of its long-range planning process, has issued 4 white papers (just 4-5 pages each in length) for comment by February 27,
2009: 1) Applying Genomics to Clinical Problems-Diagnostics, Preventive Medicine, Pharmacogenomics 2) Applying Genomics to Clinical Problems - Therapeutics 3) A Vision for the Future of Genomics: Education and Community Engagement and 4) The Future of Genome Sequencing.
Specifically, NHGRI seeks input on whether these are the right questions to ask and whether other questions should be considered. You can view comments and add your own at: www.genome.gov/10001307
Family History Activities: In January 2009, a new family history tool was released by the Surgeon General, "My Family Health Portrait,"
that is compatible with electronic health records/personal health records and more comprehensive. There is also a help desk for consumers.
NHGRI's Genomic Healthcare Branch played a lead role in creating this tool and developing national standards for family history in electronic health records/personal health records. https://familyhistory.hhs.gov/
Large Cohort Study: Kathy Hudson, PhD, Director Genetics & Public Policy Center presented study results on "Public Perspectives on a Proposed Large Cohort Study of Genes, Environment and Health." Most participants were supportive of a large cohort study and creation of national biobank. Of note, were views on the researcher-participant relationship (we say "consent"; they say "contract") and the fact that the return of research results to participants had the most impact on willingness to participate.
www.dnapolicy.org/pub.reports.php?action=detail&report_id=27 ; www.dnapolicy.org/pub.bib.html
NIH Peer Review Process: Changes to enhance review process and transparency include: shorter R01applications (12 pages); scoring - 9-point scale instead of 5-point scale; "impact score" instead of "priority score," more emphasis on research significance than methodological weakness; engage best reviewers by having service over a 6-year period for increased flexibility, "virtual reviews" to reduce travel; revised review criteria and templates for written critiques.
http://enhancing-peer-review.nih.gov/index.html ; http://grants.nih.gov/grants/guide/notice-files/NOT-OD-09-023.html
Race, Ethnicity and Gender Issues: The Biennial Report on Inclusion of Women and Minorities in NHGRI-Supported Research was presented. NHGRI partnered with NCI and NCMHD and held a workshop in September 2008 on Ethnicity and Genetics: Understanding the Role of Genomics in Racial and Health Disparities.
ELSI held a Natural Selection Workshop in Oct. 2008 to identify future directions and best practices for research regarding natural selection.
ENCODE and modENCODE data release policy finalized in October 2008.
Human Microbiome Project (HMP) has begun sequencing samples from 5 body sites and initiated research to explore how microbes interact with the human body to affect health and disease.
http://genome.gov/pfv.cfm?pageID=27528386
Updates were presented on NHGRI's Program Portfolio, GTEX (Genotype-Tissue Expression), 1000 Genomes, PhenX (Phenotypes and
eXposures) and MGC (Mammalian Gene Collection). The MGC project has been completed. NHGRI's Advanced DNA Sequencing Technology Program:
www.genome.gov/Pages/News/Documents/GenomesatOneTen-ThousandthCost-Schloss.pdf
Publications/Findings of Interest
Science magazine (12/19/08) cited Cancer Genes as the #3 Breakthrough of the year and Genome Technologies as #10
Nature - News (12/18-25/08) called 2008 as the year of personal genomics and cited the 1000 genomes project
New England Journal of Medicine will feature a series of articles on Genomics in Medicine, starting in 2010, edited by Dr. Gregory Feero, Dr.
Alan Guttmacher and Dr. Francis Collins. Planned topics include disease risk assessment/GWAS, type 2 diabetes/obesity, mental retardation and autism, genomics and eye disorders, new therapeutic approaches to Mendelian disorders, cardiovascular disease and stroke, pharmacogenomics, ELSI issues.
Cleft lip Gene Variant Identified: A one-nucleotide difference in a gene involved in facial development may account for ~20% of isolated cleft lip cases (SNP rs642961 in IRF-6 gene, G >A).
www.genome.gov/27528380
Adult and childhood obesity: 6 new genetic variants were identified, 2 variants confirmed. www.genome.gov/27529231
Lung cancer: The Tumor Sequencing Project (TSP) has identified 26 genes that are frequently mutated in lung cancer (including tumor suppressor genes NF1, ATM, RB1, APC), detailed key pathways and described patterns of genetic mutations in smokers and non-smokers with lung cancer.
www.genome.gov/27528559
Brain cancer: The Cancer Genome Atlas Research Network has defined human glioblastoma genes and core pathways www.genome.gov/Pages/Newsroom/CurrentNewsReleases/NatureTCGA-GBM.pdf
Progeria: experimental anti-cancer drug, tipifarnib, prevents, reverses cardiovascular damage in mouse model. www.genome.gov/27528377
Long-lasting Immunity: protein, SAP, identified that enables T and B cells to interact in crucial way for establishing long-lasting immunity after an infection. www.genome.gov/27528397
Policy Updates and Outreach
Regulations are being written by the Department of Labor, Department of Health and Human Services and the EEOC for GINA (Genetic Information Nondiscrimination Act), which was passed in May 2008. Implementation for health insurance will be in May and for employment in November 2009.
There was an Appropriations Update - American Recovery and Reinvestment Act of 2009 and a comparison of the Senate and House versions in regards to NIH funding.
Darwin Day (2/12/09), the 200th anniversary of his birth: NHGRI and the National Museum of Natural History sponsored a program for high school students and the public at the Smithsonian. www.genome.gov/27529500
DNA Day: April 25, 2009
This is my last report and it has been a pleasure to serve as NSGC's Liaison to NACHGR; NSGC's new liaison is Rhonda Schonberg, MS, CGC.
Respectfully submitted,
Wendy R. Uhlmann, MS, CGC
NSGC Liaison to NACHGR
***********************************************
Wendy R. Uhlmann, MS, CGC
Clinical Assistant Professor of Internal Medicine and Human Genetics University of Michigan Division of Molecular Medicine & Genetics 300 North Ingalls
NI3 A03, SPC 5419
Ann Arbor, MI 48109-5419
Phone: (734) 763-2532
Fax: (734) 763-7672
e-mail: [log in to unmask]
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