Genomics & Health Impact Update
The Office of Public Health Genomics (OPHG) provides updated and credible information on how genomic information and family health history can improve health and influence policy and practice. We highlight news and information on the use of genomic tests and other applications, including family health history, in clinical and public health practice and programs, along with relevant data, policy, and legislation. We hope the update is informative to practitioners, policy makers, consumers, and researchers. Please send your comments to: genetics@cdc.gov.
Thursday, July 14, 2011 Volume 27 Number 2
Spotlight

CDC has issued a Request for Information (RFI) [PDF 185.98 KB] for comments, data, and other information helpful to assess the current research, policy, and practice environment in public health genomics, as part of a process to assess the most important steps for the field in the next five years. Submit comments in response to the RFI here.
Announcements
- July is Colorectal Cancer Month
- New CDC Vital Signs: Colorectal Cancer Screening, Incidence, and Mortality
- Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives [PDF 219.30 KB]
- Recommendations from the EGAPP Working Group: can UGT1A1 genotyping reduce morbidity and mortality in patients with metastatic colorectal cancer treated with irinotecan? [PDF 200.16KB]
- CDC Podcast: Genetic Testing for Lynch Syndrome in Colorectal Cancer
- New publication, Genetic Testing for Lynch Syndrome in Individuals Newly Diagnosed with Colorectal Cancer to Reduce Morbidity and Mortality from Colorectal Cancer in Their Relatives, published in PLoS Currents: Evidence on Genomic Tests 2011 July 6. Authors: Ralph Coates, Marc Williams, Stephanie Melillo, Jim Gudgeon.
- New publication, Risk for CRC in Lynch Syndrome may be lower than we thought, Medscape Today, July 6
- Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer.
Limburg PJ, Harmsen WS, Chen HH, et al. Clin Gastroenterol Hepatol. 2011 Jun;9(6):497-502 - High Risk of Colorectal and Endometrial Cancer in Ashkenazi Families With the MSH2 A636P Founder Mutation.
Mukherjee B, Rennert G, Ahn J, et al. Gastroenterology. 2011 Jun;140(7):1919-26. - Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.
Bonadona V, Bonaïti B, Olschwang S, et al. JAMA. 2011 Jun 8;305(22):2304-10.
- Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer.
- July is National Hemochromatosis Awareness Month
- New publication, Clinically Relevant Changes in Family History of Cancer Over Time, published in JAMA 2011 July 12. Authors: Argyrios Ziogas, PhD; Nora K. Horick, MS; Anita Y. Kinney, PhD; Jan T. Lowery, PhD; Susan M. Domchek, MD; Claudine Isaacs, MD; Constance A. Griffin, MD; Patricia G. Moorman, PhD; Karen L. Edwards, PhD; Deirdre A. Hill, PhD; Jonathan S. Berg, MD, PhD; Gail E. Tomlinson, MD, PhD; Hoda Anton-Culver, PhD; Louise C. Strong, MD; Carol H. Kasten, MD; Dianne M. Finkelstein, PhD; Sharon E. Plon, MD, PhD
- New publication, Sodium and Potassium Intake and Mortality Among US Adults, published in Arch Intern Med. 2011;171(13):1183-1191. Authors: Quanhe Yang, PhD; Tiebin Liu, MSPH; Elena V. Kuklina, MD, PhD; W. Dana Flanders, MD, ScD; Yuling Hong, MD, PhD; Cathleen Gillespie, MS; Man-Huei Chang, MPH; Marta Gwinn, MD; Nicole Dowling, PhD; Muin J. Khoury, MD, PhD; Frank B. Hu, MD, PhD
- Blog post: What are the Priorities for Public Health Genomics 2012-2017?
- The HuGE Navigator has been moved to a high capacity server that should enhance the performance of the database. We would appreciate it if you could report us any glitches or provide any feedback.
- The Centers for Disease Control and Prevention announces a new funding opportunity for programs to assist the adoption of evidence-based recommendations for breast cancer genomic tests and other related interventions into health practice maximizing health benefits and minimizing harm to individuals and populations.
Topics
Family Health History
Taking the family history in genetic disease: a guide for ophthalmologists
Stroh E Curr Opin Ophthalmol 2011 Jul
Practice and Programs
Genetics in Health Care: An Overview of Current and Emerging Models
Battista RN, et al. Public Health Genomics 2011 Jul
Genome-based health literacy: a new challenge for public health genomics
Syurina EV, et al. Public Health Genomics 2011;14(4-5):201-10
Health literacy: the essential catalyst for the responsible and effective translation of genome-based information for the benefit of population health
Sorensen K & Brand H. Public Health Genomics 2011;14(4-5):195-200
The paradox of public health genomics: Definition and diagnosis of familial hypercholesterolaemia in three European countries
Aarden E, et al. Scand J Public Health 2011 Jul
Data and Statistics
Attitudes and Beliefs of African-Americans Toward Genetics, Genetic Testing, and Sickle Cell Disease Education and Awareness
Long KA, et al. J Genet Couns 2011 Jul
A pilot study to determine whether health care professionals perceive stigma in heterozygote carrier identification and disclosure decisions
Moffett A & Ross LF Am J Med Genet A 2011 Jul
GenetiKit: a randomized controlled trial to enhance delivery of genetics services by family physicians
Carroll JC, et al. Fam Pract 2011 Jul
ICGC releases new genomic data on cancer ahead of schedule, PR Newswire, July 11
Systems biology of vaccination for seasonal influenza in humans.
Nakaya HI, Wrammert J, Lee EK, et al. Nat Immunol. 2011 Jul 10
Quick test can predict immune responses to flu shots, EurekAlert, July 10
199 human genome epidemiology articles have recently been added, please visit the HuGE Literature Finder in the HuGE Navigator.
CDC-Authored Genomics Publications
CDC authors are indicated in bold
The contribution of chromosomal abnormalities to congenital heart defects: a population-based study
Hartman RJ, Rasmussen SA, Botto LD, Riehle-Colarusso T, Martin CL, Cragan JD, Shin M, Correa A. Pediatr Cardiol. 2011 Jul 5.
NLRX1 protein attenuates inflammatory responses to infection by interfering with the RIG-I-MAVS and TRAF6-NF-kappaB signaling pathways
Allen IC, Moore CB, Schneider M, Lei Y, Davis BK, Scull MA, Gris D, Roney KE, Zimmermann AG, Bowzard JB, Ranjan P, Monroe KM, Pickles RJ, Sambhara S, Ting JP. Immunity. 2011 Jun 24;34(6):854-65.
Palliative care services in families of males with Duchenne muscular dystrophy
Arias R, Andrews J, Pandya S, Pettit K, Trout C, Apkon S, Karwoski J, Cunniff C, Matthews D, Miller T, Davis MF, Meaney FJ. Muscle Nerve. 2011 Jul;44(1):93-101.
Subtype analysis of Cryptosporidium parvum and Cryptosporidium hominis isolates from humans and cattle in Iran
Nazemalhosseini-Mojarad E, Haghighi A, Taghipour N, Keshavarz A, Mohebi SR, Zali MR, Xiao L. Vet Parasitol. 2011 Jun 30;179(1-3):250-2.
Toll-like and adenosine receptor expression in injured skeletal muscle
Warren GL, Hulderman T, Liston A, Simeonova PP. Muscle Nerve. 2011 Jul;44(1):85-92.
View previous CDC-authored publications
Let's Go Surfing
Constructing "best interests": Genetic testing of children in families with hypertrophic cardiomyopathy
Geelen E, et al. Am J Med Genet A 2011 Jul
Epigenome-wide association studies for common human diseases
Rakyan VK, et al. Nat Rev Genet 2011 Jul
Reengineering translational science: the time is right.
Collins FS. Sci Transl Med. 2011 Jul 6;3(90):90cm17.
Priorities for public health genomics in the US, PHG Foundation, July 13
Increased exonic de novo mutation rate in individuals with schizophrenia.
Simon L Girard, Julie Gauthier, Anne Noreau, et al. Nature Genetics, 2011
New genetic clues for schizophrenia; De novo mutations more frequent, study finds, Science Daily, July 10
Update on the pharmacogenomics of proton pump inhibitors
Krisztina Hagymási; Katalin Müllner; László Herszényi; et al. Pharmacogenomics. 2011;12(6):873-888.
How bright promise in cancer testing fell apart, The New York Times, July 7
Events and Training
7th ISNS European Neonatal Screening Regional Meeting
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The CDC Office of Public Health Genomics makes available the above information as a public service only. The items in the update come from news articles and scientific articles and abstracts published during the past week. The headlines and lead sentences are exactly as they appear & do not necessarily reflect the opinions, recommendations, or endorsement by the CDC. Note that some links may become invalid over time.
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