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 3, 2013       Volume 30   Number 1

Spotlight

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.
• 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

CDC Information for a Healthy 2013

• CDC feature: Commit to quit smoking in 2013
• CDC feature: Inspiration for a healthy new year
• CDC feature: Be prepared to stay safe and healthy in winter
• CDC feature: Gather and share your family health history
  • Key health conversations to have with your mom: Family health history facts. Every Day Health by L Petronis

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 disseminated to medical providers [PDF 7.80 MB]

State-based Cancer Data and Statistics

• CDC Interactive Cancer Atlas lets you create customized United States maps showing how many people were diagnosed with or died from cancer by cancer site, gender, race/ethnicity, and state during a given period
• Evaluation of state comprehensive cancer control plans for genomics content
  Laufman JD, et al. Prev Chronic Dis 2012 Dec;9:E176
• Multiple-state genomics data 2001-2010 (including cancer)
• Public health surveillance for BRCA1/2 in Michigan 2008-2012 [PDF 772.97 KB]
• Public health surveillance for gene expression profiling (GEP) for breast cancer recurrence risk prediction in Michigan, 2008-2012 [PDF 577.26 KB]

January is National Birth Defects Prevention Month

• CDC information: Major birth defects affect 1 in 33 US babies. Learn more
• CDC information about Specific Birth Defects- Many of them have strong genetic components
• CDC information:  What should you know about pediatric genetics?
• American Academy of Pediatrics partners with the National Birth Defects Prevention Network to raise awareness of birth defects.

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Diseases of the Week

Deep Vein Thrombosis

• 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
• Recommendations from the EGAPP working group: Against routine testing for Factor V Leiden (R506Q) and prothrombin (20210G>A) mutations in adults with a history of idiopathic venous thromboembolism and their adult family members (2011). Genetics in Medicine

Parkinson Disease

• New GenomeTV video posted on the genomics of Parkinson's disease, National Human Genome Research Institute, Dec 30
• Parkinson's disease information page from the National Institute for neurological disorders and stroke
• PDGene: A database that provides an unbiased, centralized, publicly available and regularly updated collection of genetic association studies in Parkinson disease
• Since 2001, 1174 papers reported on 443 genes associated with Parkisnon disease, inclusing 69 meta analyses and 57 genomewide association studies. To find out more, visit the HuGENavigator

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Reports and Publications

Cancer

• Risk of asynchronous contralateral breast cancer in noncarriers of BRCA1 and BRCA2 mutations with a family history of breast cancer: A report from the women's environmental cancer and radiation epidemiology study
  Reiner AS, et al. J Clin Oncol 2012 Dec

• Rebooting cancer tissue handling in the sequencing era: Toward routine use of frozen tumor tissue
  Laura Goetz, Kelly Bethel, Eric J. Topol  JAMA. 2013;309(1):37-38.

  • New standards of practice needed in cancer tissue sampling, Medscape, Jan 2
• Prognostic significance of progesterone receptor-positive tumor cells within immunohistochemically defined luminal a breast cancer.
  Prat A, Cheang MC, Martín M, et al. J Clin Oncol. 2012 Dec 17.
  • Gene expression improves the definition of a breast cancer subtype, Medical News Today, January 2
• Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.
  Claire Palles, Jean-Baptiste Cazier, Kimberley M Howarth, et al. Nature Genetics, 2012
  • Rare genetic faults identified in families with bowel cancer, Science Daily, December 30
• CYP2D6 metabolism and patient outcome in the Austrian breast and colorectal cancer study group trial (ABCSG) 8
  Matthew P Goetz, Vera Suman, Tanya L Hoskin, et al. Clinical Cancer Research Dec 4
  • Genes linked to effectiveness of Tamoxifen for breast cancer, Medline Plus, December 28
• Familial risk of early and late onset cancer: nationwide prospective cohort study
  Kharazmi E, Fallah M, Sundquist K, et al. BMJ 2012;345:e8076 Dec 20

Funding Opportunity

• AHRQ Health Services Research Demonstration & Dissemination Grants (R18) PA-13-046

Genomics in Practice

• Molecular genetic testing for mitochondrial disease: from one generation to the next
  McCormick E, et al. Neurotherapeutics 2012 Dec

• How I use molecular testing in clinical practice for patients with lung cancer
  G Oxnard, Oncology Times, Dec 28
• Editorial: A Glimpse of the Next 100 Years in Medicine-increasing precision from molecular & genomic interactions with medications, nutrients, microbiome & the environment
  New Engl J Med

New Reviews and Commentaries on Science & Technology

• Encyclopedia Genomica: UK scientists print the book of life in 130 volumes by Kevin Davies Dec 28
• The future of medicine is now: From cancer treatments to new devices to gene therapy, a look at six medical innovations that are poised to transform the way we fight disease. Wall Street Journal, Dec 29
• Translational bioinformatics: an emerging field that addresses the current challenges of integrating increasingly voluminous amounts of molecular and clinical data. PLoS Computational Biology Educational  Collection
• Probing microbiome function. Tal Nawy, Nat Methods, Jan 2013
• Whole genome sequencing advances expected for 2013, Murray Feingold, blog post, Jan 1
• Nature methods' choice for method of the year 2012 is targeted proteomics, Dec 2012
• uBiome - Sequencing your microbiome
• Ethical challenges for clinical genome sequencing- MassGenomics, Dec 31st, 2012
• Five massive next-gen sequencing projects published in 2012- Dec 28, 2012 by nextgenseek

Newborn Screening

• Cascade testing in families of carriers identified through newborn screening in Western Brittany (France)
  Dugueperoux I, et al. J Cyst Fibros 2012 Dec

• A tangled debate centers on newborns’ DNA by Carolyn Y. Johnson, Boston Globe, Dec 29

Pharmacogenomics

• Karczewski KJ, Daneshjou R, Altman RB (2012) Chapter 7: Pharmacogenomics. PLoS Comput Biol 8(12): e1002817.

• A train-the-trainer approach to a shared pharmacogenomics curriculum for US colleges and schools of pharmacy
  Lee KC, et al. Am J Pharm Educ 2012 Dec;76(10):193

Public Health Sciences

• Raphael B (2012) Chapter 6: Structural variation and medical genomics. PLoS Comput Biol 8(12): e1002821.

• Attitudes of health care professionals toward carrier screening for cystic fibrosis. A review of the literature
  Janssens S, et al. J Community Genet 2012 Dec

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