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, December 13, 2012       Volume 29   Number 24

Spotlight

Public Health Action in Genomics

 

 

• New report and recommendations from the September 7, 2012 CDC Workshop: New strategies in public health genomics: Actions to save lives now [ PDF 951.81 KB]. Michigan Center for Public Health and Community Genomics. APHA Genomics Forum
• CDC Video: Cascade genetic screening and public health practice: an idea whose time has come
• CDC Genomics Implementation: What public health can do now to save lives
• CDC blog: From genetic counseling in individuals and families to cascade screening in populations: An emerging role for public health practice

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Features of the Week

Family Health History and the Holidays

• CDC Feature: Twelve health and safety tips for the holidays
• CDC Information: Family health history
• CDC Blog: Family health history and the holidays
• CDC Feature: Gather and Share Your Family Health History
• The importance of family gatherings to your health: Oregonian Dec 4
• Million Hearts Initiative: A family history of heart disease, high blood pressure, or high cholesterol ups your risk for heart attack and stroke. Do you know your family history? Does your doctor? Use this tool to collect, share, and update your family health history
• Could knowing your family health history save your life? Dec 7 blog

Pathogen Genomic Epidemiology & Bioinformatics

• Researchers use powerful genetic techniques to trace Drug-resistant C difficile to source in US and Canadian hospitals, Guardian, Dec 9
• Genomic polish for shoe-leather epidemiology. S. Tong, Nature Rev Micro Dec 3. This month's Genome Watch highlights the advantages of using whole-genome sequencing for infectious-disease surveillance and infection control.

Genomics and Personalized Medicine

• Britain launches genome database to improve patient care, Dec 10
• Up to 100,000 patients with cancer and rare diseases in England are to have their entire genetic code sequenced, BBC News, Dec 10
• BBC News podcast, Dec 10- Sir John Bell: Genetic codes give remarkable insights
• Plans for NHS database of patients' DNA angers privacy campaigners, Dec 8
• Public Health Genomics response to  '100,000 genomes' UK announcement (Strategy for UK Life Sciences update) (PDF) from the PHG Foundation, Dec 11
• European Science Foundation Report:  Personalized medicine for the European citizen: towards more precise medicine for the diagnosis, treatment and prevention of disease [PDF 3.65 MB}
• NCI Cancer Center News: Genes predict if trastuzumab will work for breast cancer patients- Dec 10

Personal Genome Project

• Personal Genome Project in Canada launches, Dec 9
• PGP-Canada Homepage: Recruiting volunteers who are willing to share their genome sequence and many types of personal information with the research community and the general public
• PGP-USA Homepage:  Individuals from the general public have a vital role to play in making personal genomes useful
• Personal Genome Project- A public resource facilitating clinical use of genomes. PNAS 2012; 109
• My genome, unzipped, 10/12/2012 Blog Joe Pickrell

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Diseases of the Week

Type 1 Diabetes, Genomics, Prevention and Treatment

• CDC information: What is type 1 and type 2 diabetes?
• CDC information: Diabetes- basics about the diabetes and factors involved in developing type 1 diabetes
• Since 2001, 625 genes have been reported with type 1 Diabetes Mellitus in more than 1000 publications including 31 genomewide association studies. To find out more, visit the HuGENavigator
• Blog: Diabetes stops here from the American Diabetes Association

Von Willebrand Disease

• CDC Information: What should you know about von Willebrand disease?
• When periods are heavy and painful, think genetics: What is von Willebrand disease? ACOG Blog, Nov 29    

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Select Events

Nobel Week Dialogue Dec 9

• The genetic revolution and its impact on society, Dec 9, Stockholm
• Do we understand gene-environment interactions? Blog by M Delaney, Dec 9
• How biology entered the information age, Blog by John, Dec 9 
• Genetics in agriculture and the environment, Blog by Jim Dec 9
• Genome challenge emerges in sharing DNA benefits across society, Bloomberg News Dec 9

Institute of Medicine,  December 11

• IOM emerging infections, microbial threats to health, and the microbiome, December 11
• "Genomics and genetic sequencing have transformed how we respond to emerging infections." --Dr. Anthony Fauci, Director, NIAID

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Reports and Publications

Cancer

• Cognitive and psychological impact of BRCA genetic counseling in before and after definitive surgery breast cancer patients
  Christie J, et al. Ann Surg Oncol 2012 Dec;19(13):4003-11

• Exploring genome-wide DNA methylation profiles altered in hepatocellular carcinoma using Infinium HumanMethylation 450 BeadChips
  Shen J, et al. Epigenetics 2012 Dec;8(1)

• Genome-scale discovery of DNA-methylation biomarkers for blood-based detection of colorectal cancer
  Lange CP, et al. PLoS One 2012;7(11):e50266

• RET proto-oncogene genetic screening of families with multiple endocrine neoplasia type 2 optimizes diagnostic and clinical management in China
  Qi XP, et al. Thyroid 2012 Dec;22(12):1257-65

Epigenetics

• Epigenetics of host-pathogen interactions: the road ahead and the road behind
  Gomez-Diaz E, et al. PLoS Pathog 2012 Nov;8(11):e1003007  

Genomics Education

• Genomics & health video series for students and teachers (NowGEN, UK):  15-minute films that explore how genes can influence people’s health; now and in the future.
• ‘Genes and disease’ –exploring how genomic research is helping scientists to understand a range of illnesses
• ‘Breast cancer in the family’ –one family’s story of breast cancer
• ‘Genomics, decision-making and risk’ –clinicians, researchers and ethicists discuss how genomics has the potential to affect people’s lives
• Bioinformatics: Computational thinking in the era of big data biology  

Genomics in Practice

• Clinical pharmacogenomics: opportunities and challenges at point of care
  Scott SA Clin Pharmacol Ther 2012 Dec

• Detecting familial hypercholesterolaemia in general practice
  Kirke A, et al. Aust Fam Physician 2012 Dec;41(12):965-8

• Effective communication of molecular genetic test results to primary care providers.  Scheuner M, et al. Genetics in Medicine Dec 6

• Survey of nursing integration of genomics into nursing practice
  Calzone KA, et al. J Nurs Scholarsh 2012 Dec;44(4):428-36

Genomic Testing

• Clinical utility of the X-chromosome array
  Zarate YA, et al. Am J Med Genet A 2012 Dec

• A better early blood genomic test for autism? PR Newswire, Dec 5

New Reviews and Commentaries on Science & Technology

• Gene network illuminates stress, mutation and adaptation responses, ScienceDaily, Dec. 6

• 6 of top 10 medical breakthroughs of 2012 by Time are in genomics: DNA, microbiome, cancer, newborn screening & stem cells

Newborn Screening

• Retention and research use of residual newborn screening bloodspots
  Botkin JR, et al. Pediatrics 2012 Dec

Prenatal Testing

• Application of genomic technology in prenatal diagnosis.
  Dugoff L. N Engl J Med. 2012 Dec 6;367(23):2249-51
  • Chromosomal microarray versus karyotyping for prenatal diagnosis
    Ronald J. Wapner, Christa Lese Martin, Brynn Levy, et al. New England Journal of Medicine 2012 Dec
  • Clinical diagnosis by whole-genome sequencing of a prenatal sample.
    Talkowski ME, Ordulu Z, Pillalamarri V, et al. N Engl J Med. 2012 Dec 6;367(23):2226-32.
  • Karyotype versus microarray testing for genetic abnormalities after stillbirth.
    Reddy UM, Page GP, Saade GR, et al. N Engl J Med. 2012 Dec 6;367(23):2185-93.
  • NEJM papers support use of arrays in prenatal Dx as sequencing gains ground, Genome Web, December 6 [by free subscription only]

Public Health Sciences

• Examining the comorbidity between attention deficit hyperactivity disorder and bipolar I disorder: a meta-analysis of family genetic studies
  Faraone SV, et al. Am J Psychiatry 2012 Dec;169(12):1256-66
• Human genetics.genetic influences on disease remain hidden
  Kaiser J Science 2012 Nov;338(6110):1016-7
• Tailored second line therapy in asthmatic children with the arginine-16 genotype
  Lipworth BJ, et al. Clin Sci (Lond) 2012 Nov
• Why have tobacco control policies stalled? Using genetic moderation to examine policy impacts.
  Fletcher JM. PLoS One. 2012;7(12):e50576

• Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing
  Yali Xue, Yuan Chen, Qasim Ayub, et al American Journal of Human Genetics 2012

  • Researchers produce a catalogue of the deleterious and disease-causing genetic variants in healthy people, Wellcome Trust Sanger Institut, December 6
• Why doesn't a healthy person's genome sequence reveal more about health and disease? Blog by Mark Wanner, Dec 7  

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CDC-Authored Genomics Publications

CDC authors are indicated in bold

View previous CDC-authored publications

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