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, January 10, 2013       Volume 30   Number 2

Spotlight

15 Years of Public Health Genomics

 

• CDC blog post: Public health genomics: 15 years on
• Beyond the horizon: Connecting science and health: Read PHG Foundation overview celebrating 15 years of public health genomics in the United Kingdom
• CDC paper: The impact of genomics on public health practice: the case for change. Zimmern R & Khoury M. Publ Health Genomics 2012; 15
• CDC paper: Public health action in genomics Is now needed beyond newborn screening. Bowen MS, et al. Public Health Genomics. 2012;15(6):327-34.
• CDC paper: Current priorities for public health practice in addressing the role of human genomics in improving population health. . Khoury MJ., et al. Am J Prev Med. 2011 Apr;40(4):486-93.
• Delivering the promise of public health genomics: can genomics help developing countries face their growing burden of disease? By Jane Parry, The Guardian, Jan 3

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Features of the Week

January is National Birth Defects Prevention Month

• CDC information: Major birth defects affect 1 in 33 US babies. Learn more
• CDC preconception care: Take care of yourself today for a healthy baby tomorrow
• CDC information about specific birth defects- Many of them have strong genetic components
• CDC information:  What should you know about pediatric genetics?
• National Birth Defects Prevention Network:  10 things you should know about birth defects. [PDF 397.68 KB]

Folic Acid Awareness Week: January 6-12, 2013:

• CDC information: Get enough folic acid today? Women who can become pregnant need 400mg daily plus a healthy diet
• Did you know? Folic acid taken before & during early pregnancy can prevent many neural tube defects.
• Did you know that 196 genes have been reported in relation to the association between folic acid and various diseases? Check out the HuGE Navigator for details and click on “Gene”

Genomics Office, Connecticut Department of Health

• Genomics Office integrates developing genomic technologies into public health policy, programs, and practice. The Office is a resource for health professionals and the public about the role of genomics in disease prevention and health improvement.
• Genomics profile for Connecticut [PDF 47.13 KB]
• Cancer genomics best practices for Connecticut healthcare providers [PDF 7.80 MB]

50 Years of Newborn Screening

• 50 years of saving babies’ lives: Association for Public Health Laboratories, Jan 3
• Happy 50th birthday, newborn screening! 50 years of saving babies' lives APHL Public Service Announcement
• Health Resources and Services Administration grant to evaluate health outcomes of newborn screening long-term follow-up
• CDC information on newborn screening: Newborn screening identifies conditions that can affect a child's long-term health or survival

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Diseases of the Week

Deep Vein Thrombosis

• CDC Public Health Grand Rounds: Preventing Venous Thromboembolism, January 15
• CDC information: Deep vein thrombosis/pulmonary embolism
• CDC feature: Are you at risk for deep vein thrombosis?
• Mayo Clinic: Risk factors for deep vein thrombosis: If someone in your family has had DVT or a pulmonary embolism, your risk of developing DVT is increased
• Did you know that 136 genes have been reported in association with risk of venous thrombosis? Factors V and II are the most well known genes

Gout

• Study finds new genetic links to gout, PHG Foundation, Jan 3
• CDC information: Gout
• Since 2001, 62 publications have reported on genes associated with gout. These include 7 meta analyses and 16 genomewide association studies. To find out more, visit the HuGENavigator

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Select Events

NCI Workshop: Evidence needed to support the clinical utility of molecular diagnostics January 10-11

Pacific Symposium on Biocomputing January 3-7

• Theme of embracing complexity in health and disease
• Integrative personal "omic" profiles in health and disease. By Mike Snyder (Stanford University)
• "More data does not equal more knowledge": Time to embrace complexity. By Jonathan Moore
• The curse of big data: by V Cranville
• Characterizing genetic interactions in disease based on pairwise statistical epistasis networks. By T Hu
• Finding higher-order interactions is not an easy task. It is highly computationally intensive [PDF 259.76 KB]. By T Hu

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Reports and Publications

Cancer

• High familial risk in nodular lymphocyte-predominant Hodgkin lymphoma
  Saarinen S, et al. J Clin Oncol 2013 Jan

Family History

• Heart disease and stroke statistics--2013 update- Chapter 7- Family history and genetics- A report from the American Heart Association

Funding Opportunity

• NIH reissuing dissemination & implementation research program announcements. Webinars to learn more: Jan. 9 and 31

Genomics in Practice

• The genetics of autism spectrum disorders - a guide for clinicians.
  Heil KM, Schaaf CP. Curr Psychiatry Rep. 2013 Jan;15(1):334.

• Autism genetic testing: a qualitative study of awareness, attitudes, and experiences among parents of children with autism spectrum disorders
  Chen LS, et al. Genet Med 2013 Jan

• Changes in chemistry and biochemistry education: Creative responses to medical college admissions test revisions in the age of the genome
  Brenner C Biochem Mol Biol Educ 2012 Dec

• Family-based associations in measures of psychological distress and quality of life in a cardiac screening clinic for inheritable cardiac diseases: a cross-sectional study
  McGorrian C, et al. BMC Med Genet 2013 Jan;14(1):1

• Perception, experience, and response to genetic discrimination in Huntington's Disease: The Australian results of the international RESPOND-HD study 
  Goh AM, et al. Genet Test Mol Biomarkers 2013 Jan

• What counts as effective genetic counselling for presymptomatic testing in late-onset disorders? A study of the consultand's perspective
  Guimaraes L, et al. J Genet Couns 2013 Jan

• Chapter 13: Mining electronic health records in the genomics era
  Denny J. 2012 PLoS Comput Biol 8(12): e1002823
  • Researchers link DNA with EHRs, leverage data for genomic research, EHR Intelligence, January 3

Guidelines and Recommendations

• ACMG practice guideline: Lack of evidence for MTHFR polymorphism testing
  Hickey SE, et al. Genet Med 2013 Jan

Newborn Screening

• Newborn screening for critical congenital heart disease: potential roles of birth defects surveillance programs-United States, 2010-2011  JAMA 2012 Dec;308(23):2452-4

Pharmacogenomics

• Predicting the cost and pace of pharmacogenomic advances: An evidence-based study
  Ramy Arnaout, Thomas P. Buck, Paulvalery Roulette,and Vikas P. Sukhatme 2013 Clinical Chemistry 59:4

  • When will genomic research translate into clinical care -- and at what cost? EurekAlert, January 4

Prenatal Diagnosis

• Can fetal DNA sequencing replace amniocentesis? Video By Eric Topol Jan 9  

Public Health Sciences

• Genomewide association studies and common disease--realizing clinical utility
  Fugger L, et al. N Engl J Med 2012 Dec;367(25):2370-1

• A variant upstream of IFNL3 (IL28B) creating a novel interferon gene IFNL4 is associated with impaired clearance of hepatitis C virus.
  L Prokunina-Olsson et al. 2013 Nature Genetics

  • NIH investigators discover new gene that affects clearance of hepatitis C virus, NIH News, January 6
• Tailored second-line therapy in asthmatic children with the Arg16 genotype
  Brian J. Lipworth, Kaninika Basu, Helen P. Donald, et al. Clinical Science (2013) 124, (521–528)
  • Childhood asthma study points to personalised medicine, PHG Foundation, January 9

• A host transcriptional signature for presymptomatic detection of infection in humans exposed to influenza H1N1 or H3N2
  Woods CW, McClain MT, Chen M, Zaas AK, Nicholson BP, et al. (2013 PLoS ONE 8(1): e52198)

• Gene Expression-Based Classifiers Identify Staphylococcus aureus Infection in Mice and Humans
  Ahn SH, Tsalik EL, Cyr DD, Zhang Y, van Velkinburgh JC, et al. (2013) PLoS ONE 8(1): e48979

  • Studies uncover host expression signatures in influenza, bacterial infections, Genome Web, January 10 [by free subscription only]

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CDC-Authored Genomics Publications

CDC authors are indicated in bold

View previous CDC-authored publications

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