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, June 28, 2012       Volume 28   Number 26

Spotlight

New Blog Post: Peeling the pyramid, scaling the onion—how to implement genomic medicine

• A framework for public health action: the health impact pyramid
  Frieden TR. AM J Public Health 2010;100:590-595.
• Multilevel research and the challenges of implementing genomic medicine.
  Khoury MJ, Coates RJ, Fennell ML, et al. J Natl Cancer Inst Monogr. 2012 ;2012(44):112-20.
• May 2012 special issue of the Journal of the National Cancer Institute:
  Understanding and Influencing Multilevel Factors Across the Cancer Care Continuum

 

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Genomic Pulse

• Over a million people in the U.S. are predisposed to serious health problems and premature death due to Lynch syndrome, familial hypercholesterolemia, or BRCA-associated hereditary breast and ovarian cancer.  Evidence-based recommendations are available that can be adopted now to save lives. To find out more about tier 1 genomic applications, please click here

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Tweets of the Week:

• Follow Dr. Khoury on Twitter

  • Find out more about #P4medicine https://m360.washbio.org/event.aspx?eventID=50715 and how public health http://www.ncbi.nlm.nih.gov/pubmed/22608383 can help make it succeed
  • RT @DrGrantCDC Learn about #sicklecelltrait from this month's webinar with Dr Laretta Jordan, June 28, 2pm http://go.usa.gov/ybA

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Announcements

• National HIV Testing Day, June 27
  • CDC Feature
  • Find out how genetic testing can reduce adverse effects from specific HIV therapy. Search table of genomic applications
  • Find out how genetic susceptibility gene affect HIV risk and transmission. Search the HuGE Navigator
• CDC feature: Cancer and Men
  • Know your family health history: it can save your life
  • Genetics and prostate cancer (from the National Cancer Institute)
• CDC feature: Sickle Cell Awareness
  • World Sickle Cell Awareness Day was June 19th
  • How Sickle Cell Trait is Inherited?
  • Stay Healthy with Sickle Cell Disease

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Topics of the Week

Cancer

• Perceptions of genetic research and testing among members of families with an increased risk of malignant melanoma
  Branstrom R, et al. Eur J Cancer 2012 Jun

• Shorter telomere length is associated with increased ovarian cancer risk in both familial and sporadic cases, Medscape, June 26 [by free subscription only]

Cardiovascular Disease

• Familial Aggregation of Lone Atrial Fibrillation in Young Persons
  Oyen N, et al. J Am Coll Cardiol 2012 Jun

Genetic Testing in Practice

• A Report Template for Molecular Genetic Tests Designed to Improve Communication Between the Clinician and Laboratory
  Scheuner MT, et al. Genet Test Mol Biomarkers 2012 Jun

• Awareness and Uptake of Direct-to-Consumer Genetic Testing Among Cancer Cases, Their Relatives, and Controls: The Northwest Cancer Genetics Network
  Hall TO, et al. Genet Test Mol Biomarkers 2012 Jun

• Improvement of interpretation in cystic fibrosis clinical laboratory reports: longitudinal analysis of external quality assessment data
  Berwouts S, et al. Eur J Hum Genet 2012 Jun

• Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth disease
  Choi BO, et al. Hum Mutat 2012 Jun

• To Know or Not to Know: An Update of the Literature on the Psychological and Behavioral Impact of Genetic Testing for Alzheimer Disease Risk
  Rahman B, et al. Genet Test Mol Biomarkers 2012 Jun

• Preoperative Diagnosis of Benign Thyroid Nodules with Indeterminate Cytology.
  Alexander EK, Kennedy GC, Baloch ZW, et al. N Engl J Med. 2012 Jun 25.

  • Minimizing Unnecessary Surgery for Thyroid Nodules.
    Jameson JL. N Engl J Med. 2012 Jun 25.

  • Low-risk thyroid nodules identified by gene expression test, Medical News Today, June 27
• Providing Appropriate Genetic Information to Healthy Carriers of Hemoglobinopathy Can Be a Welcome and Safe Initiative: The Latium Example
  Amato A, et al. Genet Test Mol Biomarkers 2012 Jun

Newborn Screening

• Standardized Procedural Practices of the Ontario Prenatal Screening Program for aneuploidies and open neural tube defects
  Lepage N, et al. Clin Biochem 2012 Jun

• Parents: Critical Stakeholders in Expanding Newborn Screening
  Friedman Ross L, Waggoner D. Journal of Pediatrics 2012 Jun 25

  • Informed consent for newborn screening? Medical News Today, June 22

Public Health Sciences

• Multiple comparisons of drug efficacy between subgroups defined by genetic polymorphisms
  Tu YH & Hsu JC Stat Med 2012 Jun

• Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders
  Lou R, Sanders S, Tian Y, et al. American Journal of Human Genetics 2012 Jun 21

  • Study uncovers new tools for targeting genes linked to autism, Medical News Today, June 24

• Cigarette smoke-induced transgenerational alterations in genome stability in cord blood of human F1 offspring
  Laubenthal J, Zlobinskaya O, Poterlowicz K, et al. FASEB Journal 2012 Jun 22

  • Another reason why dads and hopeful dads should quit smoking now, Science Daily, June 23

Funding

• Population Architecture Using Genomics and Epidemiology (PAGE), Phase II – Coordinating Center (U01)

• Population Architecture Using Genomics and Epidemiology (PAGE), Phase II Study Investigators (U01)

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CDC-Authored Genomics Publications

CDC authors are indicated in bold

View previous CDC-authored publications

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