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, August 16, 2012       Volume 29   Number 7

Spotlight

Type 2 Diabetes, Genes and Family History

• A meta analysis report first use Metabochip to characterize genetic architecture type 2 diabetes, glycemic traits
• Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.
  Scott RA, Lagou V, Welch RP, et al. Nat Genet. 2012 Aug 12.
• Genetic clues for type 2 diabetes, Medical Xpress, August 14
• Meta-Analyses of Glucose and Insulin-related traits Consortium (MAGIC) reveal new genetic regions influencing blood glucose traits, Wellcome Trust Sanger Institute, August 12
• Since 2001, 2615 publications have assessed 3270 genes for risk of type 2 diabetes, including 101 GWAS and 201 meta analyses
• Knowing your family history of diabetes is still more useful than testing for many genetic variants related to diabetes
• Does diabetes run in your family? Take steps towards better health!
• CDC Diabetes Public Health Resource

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Announcements

• Integration of Whole Genome Sequencing into Clinical Practice
  • Challenges and opportunities: Lessons from the ClinSeq project by L Biesecker et al. Genetics in Medicine 2012;
  • CDC paper: Deploying whole genome sequencing in clinical practice and public health: meeting the challenge one bin at a time. Genetics in Medicine 2011;
  • CDC Blog: Can we have our genome and eat it too? Deploying the whole genome sequence into medicine and public health: one base pair at a time
• Reproducibility Initiative and Genomics
  • The Reproducibility Initiative is a new program to help scientists validate studies for publication or commercialization.
  • Science Exchange Initiative to facilitate independent replication of scientific findings
  • More trial, less error: An effort to improve scientific studies
  • Independent labs to verify high-profile papers, Nature News, August 14
  • Human Genome Epidemiology Network interim guidelines for evaluating the cumulative credibility of genetic association studies
  • Human Genome Epidemiology Network proposed guidelines for evaluating cumulative evidence on gene-environment interaction in cancer
  • CDC paper: Ioannidis J, Khoury MJ. Improving Validation Practices in “Omics” Research. Science 2011 334(6060); 1230-1232.
  • For more information on the Human Genome Epidemiology Network click here
• Family History and the Million Hearts Initiative
  • Million Hearts Initiative
  • CDC Blog: A Million Hearts, a Thousand Genes and Your Family History
  • CDC Director speaks on family history and the million hearts initiative
  • Has someone in your family had a heart attack or stroke? Find out. Knowing could save your life.
  • If you’re seeing loved ones this weekend, ask about your family’s history of heart attack and stroke.
• CDC Feature: Genetic Testing for Hereditary Colorectal Cancer
  • EGAPP: Informing the effective integration of genomics into health practice—Lynch syndrome
  • CDC Podcast: Genetic Testing for Lynch Syndrome in Colorectal Cancer
• New CDC Report: A report template for molecular genetic tests designed to improve communication between the clinician and laboratory
  Scheuner MT, Hilborne L, Brown J, Lubin IM. Genet Test Mol Biomarkers. 2012 Jul;16(7):761-9.

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Topics of the Week

Cancer

• Barriers to genetic testing for breast cancer risk among ethnic minority women: an exploratory study
  Glenn BA, et al. Ethn Dis 2012 Summer;22(3):267-73

• Interpretation of Melanoma Risk Feedback in First-Degree Relatives of Melanoma Patients
  Hay JL, et al. J Cancer Epidemiol 2012;2012:374842

• Cognitive and Psychological Impact of BRCA Genetic Counseling in Before and After Definitive Surgery Breast Cancer Patients.
  Christie J, Quinn GP, Malo T, et al. Ann Surg Oncol. 2012 Jul 6.

  • Pre-test genetic counseling increases cancer knowledge for BRCA patients, Moffitt Cancer Center, August 15
• Molecular inversion probe analysis detects novel copy number alterations in Ewing sarcoma.
  Jahromi MS, Putnam AR, Druzgal C, et al. Cancer Genet. 2012 Jul;205(7-8):391-404.
  • Genomic study of rare children’s cancer yields possible prognostic tool, University of Utah Health Care, August 9

Genomics in Practice

• Quality in genetic counselling for presymptomatic testing — clinical guidelines for practice across the range of genetic conditions
  Skirton H, Goldsmith L, Jackson L, et al. Eur J Hum Genet 2012 Aug 15

• Consumer awareness and attitudes about insurance discrimination post enactment of the Genetic Information Nondiscrimination Act
  Allain DC, et al. Fam Cancer 2012 Aug

• Clinical utility gene card for: MUTYH-associated polyposis (MAP), Autosomal recessive colorectal adenomatous polyposis, Multiple colorectal adenomas, Multiple adenomatous polyps (MAP) - update 2012
  Aretz S, et al. Eur J Hum Genet 2012 Aug

Prenatal Testing

• Prenatal Whole Genome Sequencing: Just Because We Can, Should We?
  Donley G, Hull S, Bergman B. Hastings Center Report 42, no. 4 (2012): 28-40.

  • Prenatal whole genome sequencing: Just because we can, should we? EurekAlert, August 10

Funding

• Genomic Sequencing and Newborn Screening Disorders (U19)

  • NIH seeks proposals to study genomic sequencing in newborn period, NIH News, August 9

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CDC-Authored Genomics Publications

CDC authors are indicated in bold

View previous CDC-authored publications

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