Genomics & Health Impact Update
Published by the Office of Public Health Genomics (OPHG), the Update offers links to genomics news and publications relevant to population health and health care. The Update highlights family health history and genomic tests, along with relevant data, policy, and legislation. Please send your comments to: genetics@cdc.gov.
Thursday, March 22, 2012 Volume 28 Number 12
Highlights of the Week:
Spotlight

March 22 is Lynch Syndrome Awareness Day
- New Blog Post: Making Universal Screening for Lynch Syndrome a Reality: The Lynch Syndrome Screening Network
- 33 State Governors declare March 22 Lynch Syndrome Awareness Day
- Genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives, EGAPP Recommendation
- Genetic Testing for Lynch Syndrome in Colorectal Cancer, CDC Podcast
- Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting.
Bellcross CA, et al.. Genet Med. 2012 Jan;14(1):152-62. - Lynch syndrome: Don't miss it, Medscape, March 16 [by free subscription only]
- Cancer in their genes, White Bear Press, March 21
Announcements
- Genome-Based Diagnostics: Clarifying Pathways to Clinical Use- Workshop Report, Institute of Medicine
- March is National Colorectal Cancer Awareness Month, CDC Feature
- Genomics and Health: Colorectal Cancer Awareness
- Hot topics for Colorectal Cancer Awareness Month, University of Michigan Health System, March 19
- Two new members of the EGAPP Working Group, with experience and expertise in pharmacogenomics and public health, will be selected in 2012. Nominate yourself or someone you know today!
- Blog Post: The public health approach to genetic testing in the 21st century: Saving lives and saving unnecessary healthcare costs
- Can genomics bend the cost curve?
Armstrong K JAMA 2012 Mar;307(10):1031-2 - Report: “Personalized Medicine: Trends and prospects for the new science of genetic testing and molecular diagnostics"[PDF 703.72 KB]
- Spending on genetic tests is forecast to rise sharply by 2021, Los Angeles Times
- Can genomics bend the cost curve?
Genomic Pulse
- In the United States, it has been estimated that there are more than 800,000 people affected with Lynch syndrome, the vast majority of whom have not been diagnosed by the healthcare system. Screening new cases of colorectal cancer for Lynch syndrome can save many lives. To find out more, please click here
Picks of the Week
- Supreme court rejects key biotech patents
- Value of genetic profiling in leukemia patients
- Prognostic Relevance of Integrated Genetic Profiling in Acute Myeloid Leukemia
Patel JP, et al. N Engl J Med 2012 Mar - Leukemia patients' outcomes predicted with genetic profiling, Medical News Today, March 16
- Prognostic Relevance of Integrated Genetic Profiling in Acute Myeloid Leukemia
- Value of pharmacogenomic testing in Warfarin therapy
- Randomized and Clinical Effectiveness Trial Comparing Two Pharmacogenetic Algorithms and Standard Care for Individualizing Warfarin Dosing: CoumaGen-II
Anderson JL, et al. Circulation 2012 Mar
- Randomized and Clinical Effectiveness Trial Comparing Two Pharmacogenetic Algorithms and Standard Care for Individualizing Warfarin Dosing: CoumaGen-II
- Underutlization of genetic services in autism
- Underutilization of Genetics Services for Autism: The Importance of Parental Awareness and Provider Recommendation
Vande Wydeven K, et al. J Genet Couns 2012 Mar
- Underutilization of Genetics Services for Autism: The Importance of Parental Awareness and Provider Recommendation
- Is epidemiology ready for epigenetics?
- Is epidemiology ready for epigenetics?
Relton C, Smith G I. Int J Epidemiol. 2012 41(1):5-9.
- Is epidemiology ready for epigenetics?
- Patient and research participant experiences with genome-scale testing
- Call for papers: Narrative Symposium: Patient and research participant experiences with genome-scale testing [PDF 148.94 KB] , Narrative Inquiry in Bioethics
Topics
Genomic Tests
Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities
Srebniak MI, et al. Mol Cytogenet 2012 Mar;5(1):14
Screening for Cervical Cancer Recommendations, USPSTF, March
New professional guidelines recognize benefit of genotyping HPV 16 and 18 for cervical cancer prevention by assessing individual patient risk, The New York Times, March 15
For more information on genomic applications in practice and prevention, please visit the GAPP Finder in the GAPP Knowledge Base and PLoS Currents Evidence on Genomic Tests.
Family Health History
Asymptomatic individuals with a positive family history for premature coronary artery disease and elevated coronary calcium scores benefit from statin treatment: a post hoc analysis from the st. Francis heart study
Mulders TA, et al. JACC Cardiovasc Imaging 2012 Mar;5(3):252-60
MRI screening for women with a family history of breast cancer but no genetic predisposition, EurekAlert, March 21
Age-related macular degeneration: the importance of family history as a risk factor.
Shahid H, Khan JC, Cipriani V, et al. Br J Ophthalmol. 2012 Mar;96(3):427-431.
Age-related macular degeneration: The importance of family history as a risk factor, Medscape, March 20 [by free subscription only]
Practice and Programs
A primary care specialist genetics service: a cluster-randomised factorial trial
Westwood G, et al. Br J Gen Pract 2012 Mar;62(596):191-7
What management for the asymptomatic men carriers of BRCA1 or 2 mutation? Results of a survey in the French oncogenetic centers
Brachot-Simeonova I, et al. Bull Cancer 2012 Mar
Who is being referred to cancer genetic counseling? Characteristics of counselees and their referral
van Riel E, et al. J Community Genet 2012 Mar
Policy and Legislation
Broadening research consent in the era of genome-informed medicine
Kronenthal C, et al. Genet Med 2012 Mar
Ethical aspects of participation in the Database of Genotypes and Phenotypes of the National Center for Biotechnology Information: The Cancer and Leukemia Group B Experience
Peppercorn J, et al. Cancer 2012 Mar
Public Health Science
Methods for Meta-Analyses of Genome-wide Association Studies: Critical Assessment of Empirical Evidence
Goegele M, Minelli C, Thakkinstian A, et al. American Journal of Epidemiology 2012 Mar 16
Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families.
Osher DJ, De Leeneer K, Michils G, et al. Br J Cancer. 2012 Mar 13.
Parent, sibling and peer influences on smoking initiation, regular smoking and nicotine dependence. Results from a genetically informative design
Scherrer JF, et al. Addict Behav 2012 Mar;37(3):240-7
Pharmacogenomics in Early Phase Oncology Clinical Trials: Is There a Sweet Spot in Phase II?
O'Donnell PH & Stadler WM Clin Cancer Res 2012 Mar
Exploring concordance and discordance for return of incidental findings from clinical sequencing.
Green RC, Berg JS, Berry GT, et al. Genet Med. 2012 Mar 15.
Many of the incidental findings discovered during genetic testing should be reported to ordering physician, Medical News Today, March 19
The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomization analysis
The Interleukin-6 Receptor Mendelian Randomisation Analysis (IL6R MR) Consortium Lancet; 2012 Mar 14
Gene chip may help prevent heart disease, Medical News Today, March 18
Dendritically targeted Bdnf mRNA is essential for energy balance and response to leptin.
Liao GY, An JJ, Gharami K, et al. Nat Med. 2012 Mar 18.
How a single gene mutation leads to uncontrolled obesity, Science Daily, March 18
Systematic evaluation of environmental factors: persistent pollutants and nutrients correlated with serum lipid levels.
Patel CJ, Cullen MR, Ioannidis JP, et al. Int J Epidemiol. 2012 Mar 15.
Stanford study finds GWAS statistical tools improve environment-wide association research, Genome Web, March 16 [by free subscription only]
DNA Methylation Patterns in Cord Blood DNA and Body Size in Childhood
Relton D, Groom A, St. Pourcain B, et al. PLoS One 2012 Mar 14
Diet or DNA: are we fated to be fat? Medical Xpress, March 15
194 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
Pneumococcal genome sequencing tracks a vaccine escape variant formed through a multi-fragment recombination event
Golubchik T, Brueggemann AB, Street T, Gertz RE, Spencer CC, Ho T, Giannoulatou E, Link-Gelles R, Harding RM, Beall B, Peto TE, Moore MR, Donnelly P, Crook DW, Bowden R. Nat Genet. 2012 ;44(3):352-5.
View previous CDC-authored publications
Let's Go Surfing
Public Health Genomics in Spain: The Status of a Non-Existing Reality
Gutierrez-Ibarluzea I, et al. Public Health Genomics 2012 Mar
Genetics: Broken giant linked to heart failure
McNally EM. Nature. 2012 Mar 14;483(7389):281-2.
Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes
Chen R, Mias G, Li-Pook_Thank J, et al. Cell 2012;148(6):1293-1307
Geneticist able to discover, track his own diabetes onset, Medical News Today, March 18
The rise of the 'narciss-ome', Nature News, March 16
Events and Training
Basic and Advanced Course in Genetic Counselling in Practice
April 14-20 ~ Bologna, Italy
The Biology of Genomes
May 8-12 ~ Cold Spring Harbor, NY
The Contribution of Epigenetics in Pediatric Environmental Health
May 30 - June 1 ~ San Francisco, CA
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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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