Genomics & Health Impact Update

Published by the Office of Public Health Genomics (OPHG), the Update includes CDC announcements, publications, blogs and other products. The Update also includes links to genomics and health impact news and publications. The Update features genomic tests, family history, programs and practice, policy and legislation and public health science.  To receive this update electronically every week sign-up here.

Thursday, February 21, 2013       Volume 30   Number 8

Spotlight

Genetic Testing and Population Screening for Common Diseases

• New CDC blog post: How can we use genetic testing in population screening for common diseases? Scientific and implementation challenges
• Stratified screening based on genetic testing is a radically new approach to prevention-Stratified cancer screening: The practicalities of implementation. Dent T, et al. Public Health Genomics. 2013 Jan 26.
• CDC paper: How can polygenic inheritance be used in population screening for common diseases? Khoury MJ et al. Genetics in Medicine Feb 14, 2013
• Incorporating genomics into breast and prostate cancer screening: assessing the implications. Chowdhury S et al. Genetics in Medicine Feb 14, 2013
• Population-based screening in the era of genomics. Pashayan N, Pharoah P. Per Med. 2012 Jun;9(4):451-455.
• Polygenic susceptibility to prostate and breast cancer: implications for personalized screening. Pashayan N, et al. Br J Cancer. 2011 May 10;104(10):1656-63

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Features of the Week

February is Heart Disease Month

• CDC feature: February is American Heart Month-heart disease is preventable and controllable
• CDC feature: Genomics and heart disease
• CDC information: Heart disease and family history
• CDC podcast: Cascade screening for familial hypercholesterolemia
• CDC blog: A million hearts, a thousand genes and your family history

Human Telomeres in Health and Disease

• CDC blog post: Tell me more about telomeres by M Gwinn
  
• Association between telomere length and experimentally induced upper respiratory viral infection in healthy adults
  Sheldon Cohen, PhD; et al JAMA. 2013;309(7):699-705.
• Telomere length and pancreatic cancer: A case–control study
  Halcyon G. Skinner et al.  Cancer Epi Biom Prevention Mar 2013
• Telomeres may predict common cold risk in adults: What are they? CBS news Feb 20
• Emerging methods and technologies: Telomeres in cancer epidemiology: opportunities & challenges.
  Verma M et al. Cancer Epidemiol Biom and Prevention Feb 2013
• Cold Spring Harbor Laboratory Meeting on Telomeres and Telomerase. April 30-May 4, 2013

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Diseases of the Week

Hypertrophic Cardiomyopathy

• From the American Heart Association: Hypertrophic cardiomyopathy (HCM) is very common and can affect people of any age. About one out of every 500 people has HCM. It affects men and women equally. HCM is a common cause of sudden cardiac death in young people, including young athletes.
• What is hypertrophic cardiomyopathy? Information from the National Heart, Lung and Blood Institute
• Guidelines for the diagnosis and treatment of hypertropic cardiomyopathy. From the American College of Cardiology/American Heart Association
• Hypertrophic cardiomyopathy kills 7 in one family, ABC News story, Feb 7
• CDC blog: Can sudden cardiac death of the young be prevented?
• Did you know that 85 genes have been reported with hypertrophic cardiomyopathy? For more information, check out the HuGENavigator
  

Creutzfeldt-Jakob Disease

• CDC information: Classic Creutzfeldt-Jakob Disease
• CDC information: Variant Creutzfeldt-Jakob Disease
• National Institute of Neurological Disorders and Stroke:  About 5 to 10 percent of cases in the United States are hereditary.  In hereditary Creutzfeldt-Jakob Disease , the person has a family history of the disease and/or tests positive for a genetic mutation associated with disease
• 15 genes have been reported with Creutzfeldt-Jakob Disease, including 2 genomewide association studies/ The most known gene is the prion protein PRNP. To find out more, visit the HuGE Navigator
• Genetic variation in prion protein PRNP has been associated with several human diseases. To find out more, visit the HuGENavigator

Muscular Dystrophy

• CDC feature: Muscular dystrophy-Kevin’s story
• CDC information: What should you know about muscular dystrophy?
• CDC muscular dystrophy surveillance tracking and research network

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Select Events

• Rare Disease Day at NIH Feb 28-March 1, Bethesda, Maryland
• Moving next generation sequencing into diagnostics-EuroGenTest March 7-8, Prague

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Funding Opportunities

• NIH National Institute for Allergy and Infectious Diseases: Genomic Centers for Infectious Diseases (letter of intent May 24, 2013): A collaborative program that will use a combination of next generation sequencing and related genomic technologies, bioinformatics capabilities and computational analyses, with a focus on the pathogen and its interaction with the host.

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Reports and Publications

Cancer

• Changes in screening behaviors and attitudes toward screening from pre-test genetic counseling to post-disclosure in Lynch syndrome families
  Burton-Chase A, et al. Clin Genet 2013 Mar;83(3):215-20

• Evaluating use characteristics for the Oncotype Dx 21-gene recurrence score and concordance with chemotherapy use in early-stage breast cancer.
  Clara Chen et al. J Oncology Practice Mar 2013

• Genotyping and genomic profiling of non-small-cell lung cancer: implications for current and future therapies.
  Li T, Kung HJ, Mack PC, et al. J Clin Oncol. 2013 Feb 11

• Implementation of universal microsatellite instability and immunohistochemistry screening for diagnosing Lynch syndrome in a large academic medical center
  Heald B, et al. J Clin Oncol Mar 2013
  • Researchers develop clinical screening program for no.1 genetic cause of colon cancer, Medical Xpress, Feb 14
• Role of new endoscopic techniques in Lynch syndrome.
  Haanstra JF, et al. Fam Cancer. 2013 Feb 19.

• Young adult daughters of BRCA1/2 positive mothers: What do they know about hereditary cancer and how much do they worry?
  Patenaude AF, et al. Psychooncology 2013 Feb

Family History

• Family health history communication networks of older adults: importance of social relationships and disease perceptions.
  Ashida S, et al. 2013 Jan 23.

• Patients' intentions to inform relatives about Type 2 diabetes risk: the role of worry in the process of family risk disclosure.
  van Esch SC et al.. Diabet Med. 2012 Dec;29(12)

Genomics in Practice

• Closing the personalized medicine information gap: HER2 test documentation practice.
  Ilia L. Ferrusi et al. Am J Manag Care Jan 2013
• Diagnosis and treatment of familial hypercholesterolaemia
  Hovingh GK et al.  Eur Heart J Feb 2013

• Public knowledge of and attitudes toward genetics and genetic testing
  Haga SB, et al. Genet Test Mol Biomarkers 2013 Feb

Genomic Tests

• Clinical utility gene card for: Joubert syndrome - update 2013
  Valente EM, et al. Eur J Hum Genet 2013 Feb

Guidelines and Recommendations

• Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts
  Vasen HF, et al. Gut 2013 Feb

Public Health Sciences

• Outbreak investigation using high-throughput genome sequencing within a diagnostic microbiology laboratory.
  Sherry NL, Porter JL, Seemann T, et al. J Clin Microbiol. 2013 Feb 13

• The congenital heart disease genetic network study: rationale, design, and early results
  Circ Res 2013 Feb;112(4):698-706

• The EPIIC hypothesis: Intrapartum effects on the neonatal epigenome and consequent health outcomes
  Dahlen HG, et al. Med Hypotheses 2013 Feb

• T-HOD: a literature-based candidate gene database for hypertension, obesity and diabetes Dai HJ, et al. Database (Oxford) 2013;2013:bas061

Reviews and Commentaries on Science & Technology

• The microbiome and health-Sniffing out hypertension. Gut bacteria help regulate blood pressure. The Economist, Feb 16th
• Genomic data in patients’ hands  Stein RA GEN Magazine, Feb 15, 2013 (Vol. 33, No. 4)
• After years of exotic and very expensive machines sequencing DNA, is genomic medicine poised for its cell phone moment? By Daniela Hernandez Wired Blog Feb 14
• As genome sequencing becomes more affordable should you do it? By Ki Mae Heussner Feb 15 Blog  
• DNA becoming a routine medical tool, Kolata G, New York Times Feb 19
• The reimbursed personal genome—-five years away? Bernadette Tansey Xconomy Blog post, Feb 19
• Gene sequencing leaves the laboratory Maturing technology speeds medical diagnoses.
  Erika Check Hayden. Nature 19 Feb
• Understanding, predicting and manipulating the genotypic evolution of antibiotic resistance
  Adam C. Palmer et al. Nature Rev Genetics Feb 19
• When genetic testing can be dangerous to your health, Oprah Winfrey Magazine Mar
• Genetics and the future of medicine, Australian Broadcasting Corporation, Feb 21
• Entering the golden age of big data: Pharmalot Op Ed piece by Ed Silverman Feb 20
• Screening everyone for everything: A changing model of screening for carrier status of genetic diseases? by Robert Resta | THE DNA EXCHANGE February 20, 2013
• Emerging technologies: NGS gains foothold  by R. Diiulio Feb 13 CLP

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CDC-Authored Genomics Publications

CDC authors are indicated in bold

View previous CDC-authored publications

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