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, November 15, 2012       Volume 29   Number 20

Spotlight

CDC Genomics & Laboratory Practice: Assuring the Quality of Next Generation Sequencing

 

• Next Generation Sequencing: Standardization of Clinical Testing CDC Working Groups
• CDC Working Group Guidelines: Assuring the Quality of Next Generation Sequencing in Clinical Practice
• Next-generation Sequencing: Standardization of Clinical Testing (Nex-StoCT)Workgroup Principles and Guidelines [PDF 490.80 KB]

November is National Prematurity Awareness Month

• March of Dimes: World Prematurity Day November 17
• CDC Feature: Prematurity Awareness
• Each year, premature (preterm) birth affects nearly 500,000 babies—that's 1 of every 8 infants born in the United States
• A risk factor for premature birth is having a previous premature birth
• Genetic and environmental factors both play a role in increasing the risk of prematurity

November is National Diabetes Month

• Presidential Proclamation -- National Diabetes Month, 2012
• Healthy habits can help prevent type 2 diabetes. Learn more by watching this video
• National Diabetes Education Program: If you have diabetes, 5 questions to ask healthcare team: Question #3 Are my children at risk?
• CDC Information: Family Health History
• CDC information: Check Your Risk for Developing Type 2 Diabetes

November is Epilepsy Awareness Month

• CDC Feature: Epilepsy Awareness
• If you have a family history of epilepsy, you may be at an increased risk of developing a seizure disorder, MayoClinic
• Find out about genes associated with epilepsy via HuGENavigator

National Alzheimer’s Disease Awareness Month

• All about Alzheimer’s, PLoS Blog, November 9
• CDC Feature: Alzheimer’s disease
• Alzheimer’s disease has both genetic and environmental risk factors, Alzheimer’s Association
• The genetics of Alzheimer's disease.
  Bertram L, Tanzi RE. Prog Mol Biol Transl Sci. 2012;107:79-100.
• Variant of TREM2 Associated with the Risk of Alzheimer's Disease
  Jonsson T et al. New Engl J Med Nov 15
• Variant TREM2 as Risk Factor for Alzheimer's Disease
  Harald Neumann, and Mark J. Daly, 2012 New Engl J Med Nov 14
  
• Check out genes associated with Alzheimer’s disease via HuGE Navigator and GWAS Integrator

Genomics, Genetic Testing and Eye Diseases

• Recommendations for Genetic Testing of Inherited Eye Diseases: Report of the American Academy of Ophthalmology Task Force on Genetic Testing - November 2012
• American Academy of Ophthalmology recommends Offering genetic testing to patients with clinical findings suggestive of a Mendelian disorder with identified gene(s)
• American Academy of Ophthalmology recommends against routine genetic testing for complex disorders like age-related macular degeneration
• Find out which genes are associated with macular degeneration

Whole Genome Sequencing- Bioinformatics

• Bioinformatics contest to interpret DNA sequence of sick kids: the shape of things to come
• Can unexplained intellectual disability be explained by whole exome sequencing?
• The era of whole-genome sequencing has arrived, New York Genome Center
• ClinVar preview: National Library of Medicine database of information about sequence variation & its relationship to human health
• 10-min video "Whole Genome Sequencing and You" from Mount Sinai Medical School Nov 8
• Training videos & slides on clinical applications of next generation sequencing, Harvard Medical School
• Genome sequencing in microbiology characterizes pathogens & tracks their evolution & spread, Nature Biotechnology News and Views, Nov 2012
• 2012 8th Annual Personalized Medicine Conference, November 28-29
• Genomic medicine: What it is, what it isn’t, what it may become, Genetics and your health, November 9
• Use of whole-genome sequencing for outbreak investigations, Lancet Infectious Diseases
• Whole-genome sequencing for analysis of an outbreak of MRSA, Lancet Infectious Diseases

Great American Smokeout November 15, 2012

• The American Cancer Society is marking the 37th Great American Smokeout on November 15 by encouraging smokers to use the date to make a plan to quit, or to plan in advance and quit smoking that day
• Great American Smokeout — November 15, 2012, CDC MMWR Report
• CDC blog: “But my great aunt smoked every day and lived to be 100”: no easy answers through genetics-quit smoking now

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Publications of the Week

Cancer

• Adding age and genetic risk to PSA test could improve screening for prostate cancer
  Kmietowicz Z BMJ 2012;345:e7467

• Genetics, inheritance and strategies for prevention in populations at high risk of colorectal cancer (CRC)
  Burn J, et al. Recent Results Cancer Res 2013;191:157-83

• International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer
  Canto MI, et al. Gut 2012 Nov

• Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial
  Mathers JC, et al. Lancet Oncol 2012 Nov

• Multi-purpose utility of circulating plasma DNA testing in patients with advanced cancers
  Perkins G, et al. PLoS One 2012;7(11):e47020

• The 21-gene recurrence score assay impacts adjuvant therapy recommendations for ER-positive, node-negative and node-positive early breast cancer resulting in a risk-adapted change in chemotherapy use
  Eiermann W, et al. Ann Oncol 2012 Nov

• A prognostic assay to identify patients at high risk of mortality despite small, node-negative lung tumors.
  Kratz JR, Van den Eeden SK, He J, et al. JAMA. 2012 Oct 24;308(16):1629-31

  • Lung cancer odds better with gene test, San Francisco Chronicle, November 13

Cardiovascular Disease

• Genetic testing in patients with acute coronary syndrome undergoing percutaneous coronary intervention: A cost-effectiveness analysis
  Lala A, et al. J Thromb Haemost 2012 Nov

Family History

• Talking (or not) about family health history in families of Latino young adults
  Corona R, et al. Health Educ Behav 2012 Nov

Funding

• Initiative to Maximize Research Education in Genomics: Courses (R25)       

Genomics in Practice

• Gene-diet interactions in complex disease: Current findings and relevance for public health
  Qi L Curr Nutr Rep 2012 Dec;1(4):222-7

• Statin treatment of children with familial hypercholesterolemia - Trying to balance incomplete evidence of long-term safety and clinical accountability: Are we approaching a consensus?
  Vuorio A, et al. Atherosclerosis 2012 Oct

• The clinical effectiveness and cost-effectiveness of primary stroke prevention in children with sickle cell disease: a systematic review and economic evaluation
  Cherry M, et al. Health Technol Assess 2012 Nov;16(43):1-129

Genomic Testing

• A risk-benefit analysis of factor V Leiden testing to improve pregnancy outcomes: a case study of the capabilities of decision modeling in genomics
  Bajaj PS & Veenstra DL Genet Med 2012 Nov

• Informed consent in direct-to-consumer personal genome testing: The outline of a model between specific and generic consent
  Bunnik EM, et al. Bioethics 2012 Nov

• Direct-to-consumer genomics reinvents itself
  Malorye Allison (2012) Nature Biotechnology  30:1027–1029

Guidelines and Recommendations

• American College of Medical Genetics and Genomics (ACMG) position statement public disclosure of clinically relevant genome variants [PDF 142.78 KB], ACMG

  • ACMG releases new position statement on the public disclosure of clinically relevant genome variants, ACMG News, November 7

Newborn Screening

• Informed choice for newborn blood spot screening in the United Kingdom: A survey of parental perceptions
  Nicholls SG & Southern KW Pediatrics 2012 Nov

• Research results: preserving newborn blood samples.
  Lewis MH, Scheurer ME, Green RC, McGuire AL. Sci Transl Med. 2012 Nov 7;4(159):159cm12

  • Newborn screening samples can serve as a resource to promote public and individual health, Genetics and Public Policy Center, November 9
• State profiles on newborn screening including residual blood spot retention and use

Public Health Sciences

• Going back to the future with Guthrie-powered epigenome-wide association studies
  Cruickshank MN, et al. Genome Med 2012 Oct;4(10):83

• Risk alleles in CFH and ARMS2 and the long-term natural history of age-related macular degeneration: The Beaver Dam Eye Study
  Ronald Klein, Chelsea E. Myers, Stacy M. Meuer, et al.2012 Arch Ophthalmol Nov 8

  • Study examines genetics, incidence of age-related macular degeneration, Medical News Today, November 13

• Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis
  David C Whitcomb, Jessica LaRusch, Alyssa M Krasinskas, et al. 2012 Nature Genetics Nov 11

  • Genetic link between pancreatitis and alcohol consumption, Medical Xpress, November 12
• DNA 'telomere' length tied to aging, death risk, Medline Plus, November 8
  • Significant relationship between mortality and telomere length discovered, Science Daily, November 8

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CDC-Authored Genomics Publications

CDC authors are indicated in bold

View previous CDC-authored publications

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