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 17, 2013       Volume 30   Number 3

Spotlight

Genomic Medicine: The Future is Here

 

• Implementing genomic medicine in the clinic: the future is here. Manolio T et al. Genetics in Medicine Jan 10
• New-CDC Commentary: The arrival of genomic medicine to the clinic is only the beginning of the journey. Evans J and Khoury MJ, Genetics in Medicine Jan 10 
• New-CDC Medscape Video:  A tiered approach to integrating genomic tests into your practice
• Challenges of implementing genomic medicine: the role of multilevel research. Khoury MJ et al.  J Natl Cancer Inst Monogr. 2012(44):112-20.
• Beyond base pairs to bedside: A public health perspective on how genomics can improve health. Khoury MJ, et al. Am J Publ Health 2012;102:34-37

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Features of the Week

15 Years of Public Health Genomics

• New 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.

January is National Birth Defects Prevention Month

• CDC Information: Major birth defects affect 1 in 33 US babies. Learn more
• CDC- National Birth Defects Prevention study video  
• CDC Information about specific birth defects- Many of them have strong genetic components
• CDC feature: Living with a birth defect
• PHG Foundation ToolKit for improving the care and prevention of congenital disorders
  

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Diseases of the Week

Spina Bifida

• CDC information: What should you know about spina bifida?
• CDC information: Not all spina bifida is preventable but folic acid reduces risk by up to 70%
• CDC quiz: How much do you know about folic acid?
• Did you know that since 2001, 101 genes have been studied in relation to the risk of spina bifida. Folic acid related genes MTHFR and CBS have been studied the most. To find out more, visit the HuGE Navigator

Osteoporosis

• CDC information: Nutrition for everyone:  Calcium and bone health
• Preventing osteoporosis: Questions for the doctor,  Healthfinder.gov
• CDC fast facts on osteoporosis
• Parental history of fracture informs earlier start to osteoporosis screening in women.  U.S. Preventive Services Task Force: Screening for osteoporosis [PDF 580.50 KB]
• Family history and osteoporosis: A person with a parent who had osteoporosis is at increased risk of developing bone loss-Your Disease Risk- Washington University, St Louis
• CDC article: Family history is a significant, independent risk factor for osteoporosis in U.S. women 35 years or older. Robitaille J et al. AM J Prev Med
• Did you know that since 2001, 933 genes have been studied in relation to the risk of osteoporosis, including 38 genomewide association studies. VDR, ESR1 and Col1A1 are the most studied genes. To find out more, visit the HuGENavigator

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Select Events

Global Health: From John Snow to Genome Science

• NIH Videocast: Air date:Wednesday, January 30, 2013, 11:00 AM

Translational genomics: The path from genomic insight to clinical applications, licensed drugs and treatment decisions through case-examples, January 15, London UK

• This old dog learns new tricks: genomics Jan 17 Blog Post  by BMJ Group

Healthy People 2020 Progress Review: Cancer and Genomic Topic Areas, February 6, Webinar

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Funding Opportunities

• CDC funding opportunity announcement: Building capacity of the public health system
  
• Patient Centered Outcome Research Institute (PCORI) Funding Announcement, Jan 15- Priority areas: Assessment of prevention, diagnosis, and treatment options; improving healthcare systems; communication and dissemination; addressing disparities

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Reports and Publications

Cancer

• Can mutations of EGFR and KRAS in serum be predictive and prognostic markers in patients with advanced non-small cell lung cancer (NSCLC)?
  Kim ST, et al. Med Oncol 2013 Mar;30(1):328

• Management of genetic syndromes predisposing to gynecologic cancers
  Miesfeldt S, et al. Curr Treat Options Oncol 2013 Jan

• One stop screening for multiple cancers: The experience of an integrated cancer prevention center
  Sella T, et al. Eur J Intern Med 2013 Jan

Genomics in Practice

• Variants of Uncertain Significance (VUS) and Lynch syndrome (Patient Information Sheet)- Kjomahan, Jan 7
• Primary-care physicians access to genetic specialists: Impediment to routine use of genomic medicine? Genetics in Medicine Jan 14. SB Haga et al

• Integration of genomic medicine into pathology residency training: The Stanford open curriculum
  Schrijver I, et al. J Mol Diagn 2013 Jan

Guidelines and Recommendations

• An updated draft clinical practice guideline on Familial breast cancer is being developed for use in the National Health Service in England, Wales and Northern Ireland (for comments)

• Screening for ovarian cancer: U.S. Preventive Services Task Force reaffirmation recommendation statement.
  Moyer VA, on behalf of the U.S. Preventive Services Task Force. Ann Intern Med. 2012;157:900-904

Newborn Screening

• Maternal attitudes to newborn screening for fragile X syndrome
  Christie L, et al. Am J Med Genet A 2013 Jan

Pharmacogenomics

• A series of pharmacogenomics articles, Genome Medicine, Jan 2013

Prenatal Screening

• Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma.
  Srinivasan A, Bianchi DW, Huang H, et al. Am J Hum Genet. 2013 Jan 9

  • Noninvasive test for chromosomal defects in the fetus, Medical News Today, January 13

Public Health Sciences

• Common variants in the HLA-DRB1–HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis
  LeishGEN Consortium, Wellcome Trust Case Control Consortium 2, et al. Nature Genetics (2013) Jan 6

  • Leishmaniasis: A genetic link found in far-flung victims of a lethal form of a parasitic disease, The New York Times, January 14 [by free subscription only]

• Human genetic variation of CYP450 superfamily: analysis of functional diversity in worldwide populations.
  Polimanti R, Piacentini S, Manfellotto D, et al. Pharmacogenomics. 2012 Dec;13(16):1951-60.

• A host transcriptional signature for presymptomatic detection of infection in humans exposed to influenza H1N1 or H3N2  
  Christopher W. Woods, Micah T. McClain, Minhua Chen, Aimee K. Zaas, et al. 2013 PLOS ONE Jan 9

  • Gene expression-based classifiers identify staphylococcus aureus infection in mice and humans  
    Sun Hee Ahn, Ephraim L. Tsalik, Derek D. Cyr, Yurong Zhang, et al. 2013 PLOS ONE Jan 9
  • Reducing the time to diagnosis by measuring genomic response to infection, Medical News Today, January 11

Reviews and Commentaries on Science & Technology

• Restoration of the gut microbial habitat as a disease therapy. David A Relman Nature Biotechnology Jan 2013
• Will Big Data DNA analysis herald new era in medicine? By Susan Watts  BBC News, Jan 17
• Eric Schadt's top 5 genomic predictions, GEN, January 15
• Precision genome editing technique shows promise S Leese, PHG Foundation Jan 14
• The Age of Epigenetics by Tim Spector, Jan 10

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CDC-Authored Genomics Publications

CDC authors are indicated in bold

View previous CDC-authored publications

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