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 29, 2012       Volume 29   Number 22

Spotlight

Genetic Counseling & Cascade Screening

 

 

• CDC new blog: From Genetic Counseling in Individuals to Cascade Screening in Populations: An Emerging Role for Public Health Practice
• What is genetic counseling? National Society for Genetic Counselors
• Video: “Cascade genetic screening and public health practice: an idea whose time has come”
• Can genetic counseling be nondirective for validated genomic tests that can prevent disease?

Chronic Obstructive Pulmonary Disease (COPD) Awareness

• CDC information: COPD Homepage
• CDC Feature on COPD: More than 15 million adults may be living with COPD and millions more may be unaware they have it.
• CDC Surveillance: According to BRFSS data 6.3% of people in the U.S. have been told they have COPD.
• About 100,000 Americans have a genetic condition called alpha-1 antitrypsin deficiency and are at increased risk for COPD.  Find out more [PDF 960.81]
• Genetic factors are associated with COPD.
  • Since 2001, 568 genes have been reported with COPD.  Find out more on HuGENavigator
  • Since 2007, there has been 49 genomewide association hits with COPD. Find out more at GWAS Integrator
• Find out more about COPD Gene Study
  

Population Screening in the Era of Genomics:  Breast cancer

• CDC Information on breast cancer screening
• NEJM Study: In last 30 years, screening mammography has only marginally reduced the rate at which women present with advanced cancer. Blyer A, Welsh HG, Nov 22
• Should screening be targeted to women at highest risk of dying from breast cancer? Strong family histories or genetic predispositions? New York Times Opinion Piece Nov 21
• Is mammography screening recommended for 40 year old women? Discussion New Engl J Med

• Population screening in the era of genomics-Review
• Polygenic susceptibility to prostate and breast cancer: implications for personalized screening? Review
• CDC information: Breast and ovarian cancer and family health history
• Women with strong family history of breast or ovarian cancer should be offered counseling for BRCA testing, USPSTF recommendation
• The benefits and harms of cancer screening- Commentary O Brawley, NCI Cancer Bulletin Nov 27

Integrating Medicine and Public Health in the Era of Genomics

• Public health and health care: Working together-Robert Wood Johnson Foundation Nov 2012
• VIDEO: A hopeful future for public health, Robert Wood Johnson Foundation
• CDC article: Will genomics help heal or widen the schism between medicine and public health?
• CDC Article:   The impact of genomics on public health practice: the case for change. Pub Health Genomics 2012
• CDC Blog:  New strategies for public health genomics beyond newborn screening.
• CDC information: A framework for patient-centered health risk assessments
• CDC article: From P4 Medicine to P5 Medicine-integrating public health & health care to use new science for improving health

Genomic Medicine-Bioinformatics

• CDC Working Group Guidelines: Assuring the quality of next generation sequencing in clinical practice
• CDC Workgroup Principles and Guidelines: Next-generation sequencing: standardization of clinical testing (Nex-StoCT) [PDF 490.80]
• Sequencing inches closer to the clinic: Neonatal, intellectual disorders identified
  Bridget M. Kuehn, MSJ JAMA. 2012;308(19):1961-1962.
• American Medical Association News: The mainstreaming of personalized medicine:  Researchers say a data-driven approach is less than a few years away for specialists and less than a decade away for primary care physicians. Nov 26
• AMA meeting: Standards sought as clinical use of gene sequencing speeds up, Nov 26
  
• Special Issue:  Bioinformatics approaches for metagenomic analysis-Briefings in Bioinformatics, Nov 2012 
• Did you know: there are (at least) 20 applications of next-generation DNA sequencing? Nextgenseq blog, Nov 15
• BMC Genome Biology Blog Nov 23:  How is personalized genomics changing medicine?
• Another “ome” in the making: the birth of the Epitranscriptome: deciphering the function of RNA modifications. Genome Biology Review Yogesh Saletore et al. Nov 2012
• Will insurance cover genome sequencing? Genwatch-Council for Responsible Genomics
• Genomics for primary care practitioners in 10 minutes or less-Video

Premature heart attacks-A million hearts & familial hypercholesterolemia

• Million Hearts Initiative
• We need your help to prevent 1 million heart attacks and strokes by 2017. Take the pledge today
• Stroke and heart attacks aren’t just for the old: More than 150,000K people under age 65 have one each year. Know your risk
• There are more than 600,000 people with familial hypercholesterolemia in US, most are not diagnosed & may have an early heart attack.
• Familial hypercholesterolemia in children and adolescents
  Current Opinion in Lipidology, 11/20/2012 Clinical Article McCrindle BW

World AIDS Day: December 1st

• CDC feature: World AIDS day
• From AIDS.GOV: The 2012 theme for World AIDS Day is "Working Together for an AIDS-Free Generation"
• The Future of Genomics in HIV Medicine: Presentations and slides from the AIDS 2012 conference, July 2012, Washington DC
• Landmarks of the HIV genome
• One for all, all for one: Sanger Institute Blog:  New method gets super-variable HIV genome sequences within reach Nov 23

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Publications of the Week

Cancer

• Cost-effectiveness of alternating magnetic resonance imaging and digital mammography screening in BRCA1 and BRCA2 gene mutation carriers
  Cott Chubiz JE, et al. Cancer 2012 Nov

• Follow-up recommendations and risk-reduction initiatives for Lynch syndrome.
  Guillén-Ponce C, et al. Expert Rev Anticancer Ther. 2012 Oct;12(10):1359-67

• Perinatal and family risk factors for Hodgkin Lymphoma in childhood through young adulthood
  Crump C, et al. Am J Epidemiol 2012 Nov

• Increased risk of breast cancer in women with NF1.
  Madanikia SA, Bergner A, Ye X, Blakeley JO. Am J Med Genet A. 2012 Dec;158A(12):3056-60.

  • Gene that causes tumor disorder linked to increased breast cancer risk, EurekAlert, November 27

Genomic Testing

• An algorithm for genetic testing of Serbian patients with demyelinating Charcot-Marie-Tooth
  Keckarevic Markovic MP, et al. Genet Test Mol Biomarkers 2012 Nov

• The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy
  Brunklaus A, et al. Dev Med Child Neurol 2012 Nov

• Debating the clinical utility of direct-to-consumer genetic testing for addiction susceptibility   
  Borry P & Henneman L Addiction 2012 Dec;107(12):2076-7

• Direct-to-consumer genetic testing for addiction susceptibility: a premature commercialisation of doubtful validity and value
  Mathews R., Hall W., Carter A Addiction 2012; 107: 2069–2074.

• Screening and rapid molecular diagnosis of tuberculosis in prisons in Russia and Eastern Europe: A cost-effectiveness analysis
  Daniel E. Winetsky, Diana M. Negoescu, Emilia H. DeMarchis, et al. 2012 PLoS Medicine Nov 27

  • A simple gene test helps curb tuberculosis in prisons, MIT Technology Review, November 27

Guidelines and Recommendations

• NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy
  Wilson KL, et al. J Genet Couns 2012 Nov

Newborn Screening

• Evaluation of genetic counseling among cystic fibrosis carriers, Michigan newborn screening
  Kleyn MJ, et al. Pediatr Pulmonol 2012 Nov

• Newborn screening for cystic fibrosis in Serbia - a pilot study
  Danijela R, et al. Pediatr Int 2012 Nov

• Newborn screening for Duchenne muscular dystrophy gains support: Researchers to push for federal recommendation to have states add DMD test to newborn panel  
  Am J Med Genet A 2012 Dec;158A(12):viii-ix

Policy and Legislation

• The perspective from EASAC and FEAM on direct-to-consumer genetic testing for health-related purposes
  Fears R & Ter Meulen V Eur J Hum Genet 2012 Nov

• "Trust is not something you can reclaim easily": patenting in the field of direct-to-consumer genetic testing
  Sterckx S, et al. Genet Med 2012 Nov
• AMA meeting: Standards sought as clinical use of gene sequencing speeds up, AMA News, November 26

Public Health Sciences

• Epigenome-wide association study in the European Prospective Investigation into cancer and nutrition (EPIC-Turin) identifies novel genetic loci associated with smoking
  Shenker NS, et al. Hum Mol Genet 2012 Nov

• Incidental findings in genetic research and clinical diagnostic tests: A systematic review
  Jackson L, et al. Am J Med Genet A 2012 Dec;158A(12):3159-67

• Daily dose of toxics to be tracked
  Ewen Callaway Nature 2012 Nov 27

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CDC-Authored Genomics Publications

CDC authors are indicated in bold

View previous CDC-authored publications

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