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, July 19, 2012       Volume 29   Number 3

Spotlight

100K Genome Project

• FDA, UC Davis, Agilent Technologies and CDC to create publicly available food pathogen genome database, FDA, July 12
• PulseNet is a national network of public health and food regulatory agency laboratories coordinated by the Centers for Disease Control and Prevention (CDC).

 

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Genomic Pulse

• The 100K Genome Project is  a five-year effort to sequence the genetic code of approximately 100,000 important foodborne pathogens and make this information available in a free, public database. The project  includes pathogens such as Salmonella, Listeria, and E. coli. To find out more, please click here

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Tweets of the Week:

• Follow Dr. Khoury on Twitter

  • FDA, UC Davis, Agilent Tech & CDC to create publicly available food pathogen genome database http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/ucm311661.htm

  • CDC Feature:# FragileX Syndrome: One Mother’s Story http://www.cdc.gov/features/fragilexawareness/

  • IOM Roundtable on Genomics Translation workshop July 17-18 will assess economics of genomic medicine, find out more
    http://www.iom.edu/Activities/Research/GenomicBasedResearch/2012-JUL-17.aspx

  • #USPSTF BRCA recommendation is a preventive service covered under the Affordable Care Act (#ACA)
    http://www.healthcare.gov/law/features/rights/preventive-care/index.html

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Announcements

• New EGAPP sponsored evidence review - Multigene Panels in Prostate Cancer Risk Assessment [PDF 1.48 MB] - conducted by investigators at the McMaster University AHRQ Evidence-based Practice Center.

• July is National Hemochromatosis Awareness Month
• CDC feature: Million Hearts initiative
  • Join the Million Hearts™ Caregiver Video Contest
  • CDC Blog Post: A Million Hearts, A Thousand Genes, and Your Family History
• CDC feature: Global Tobacco Control: A Prevention Best Buy
  • CDC Tobacco Grand Rounds
  • CDC Blog Post: Smokescreen: genetics and smoking
• July 22nd is Fragile X Awareness Day

• CDC feature: HIV Awareness
  • Let’s stop HIV together
  • Recommendation for genetic testing to reduce adverse effects from Abacavir treatment for HIV
  • Genetic factors associated with HIV occurrence and natural history: results from the HuGE Navigator

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Topics of the Week

Cancer

• Potential Impact of Adding Genetic Markers to Clinical Parameters in Predicting Prostate Biopsy Outcomes in Men Following an Initial Negative Biopsy: Findings from the REDUCE Trial.
  Kader AK, Sun J, Reck BH, et al. Eur Urol. 2012 May 12.

• Colorectal Cancer: Is Your Patient at High Risk? NCHPEG

  • Online tool to help physicians identify, manage genetic risk for colorectal cancer offered by AMA, NCHPEG, AMA, July 12

Family History

• Adding systematic family history enquiry to cardiovascular disease risk assessment: clinical utility in primary care
  Goff D Ann Intern Med 2012 Jul;157(2):148

  • Adding systematic family history enquiry to cardiovascular disease risk assessment: clinical utility in primary care
    Robson J, et al. Ann Intern Med 2012 Jul;157(2):148
  • Adding systematic family history enquiry to cardiovascular disease risk assessment: clinical utility in primary care (Original article 22351711)
    Qureshi N, et al. Ann Intern Med 2012 Jul;157(2):149

Cardiovascular Disease

• A genetic risk score based on direct associations with coronary heart disease improves coronary heart disease risk prediction in the Atherosclerosis Risk in Communities (ARIC), but not in the Rotterdam and Framingham Offspring, Studies
  Brautbar A, et al. Atherosclerosis 2012 Jun

Genomics in Practice

• Direct-to-consumer genetic testing
  Lancet 2012 Jul;380(9837):76

• Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors
  Finucane B, et al. J Genet Couns 2012 Jul

• How Genetic Variant Libraries Effectively Extend Gene Testing Patents: Implications for Intellectual Property and Good Clinical Care
  McElligott S, et al. J Clin Oncol 2012 Jul

• Preferences for outcomes associated with decisions to undergo or forego genetic testing for Lynch syndrome
  Kuppermann M, et al. Cancer 2012 Jul

• When access is an issue: exploring barriers to predictive testing for Huntington disease in British Columbia, Canada
  Hawkins AK, et al. Eur J Hum Genet 2012 Jul

Newborn Screening

• Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland - Experience and development of a routine program for expanded newborn  screening
  Lund AM, et al. Mol Genet Metab 2012 Jun

• Newborn hearing screening in youth health care in the Netherlands: National results of implementation and follow-up
  van der Ploeg CP, et al. Int J Audiol 2012 Aug;51(8):584-90

• Perils of newborn screening: doctors may be testing infants for too many diseases  
  Bleicher A Sci Am 2012 Jul;307(1):30-1

Public Health Sciences

• A public resource facilitating clinical use of genomes
  Ball MP, et al. Proc Natl Acad Sci U S A 2012 Jul

• Personalized medicine and access to health care: potential for inequitable access?
  McClellan KA, et al. Eur J Hum Genet 2012 Jul

• Risk Estimations, Risk Factors, and Genetic Variants Associated with Alzheimer's  Disease in Selected Publications from the Framingham Heart Study
  Weinstein G, et al. J Alzheimers Dis 2012 Jul

• Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells.
  Peters BA, Kermani BG, Sparks AB, et al. Nature. 2012 Jul 11;487(7406):190-5.

• Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
  Wu C, Fallini C, Ticozzi N, et al. Nature 2012 Jul 15

  • New gene mutations linked to ALS and nerve cell growth dysfunction, NIH News, July 15
• Conflict potential seen in genetic counselors, The New York Times, July 13
• Limitations of the Human Reference Genome for Personalized Genomics
  Rosenfeld JA, Mason CE, Smith TM.  2012; PLoS ONE 7(7): e40294
  • Many hurdles to leap to win the race in personalized genomic medicine, Medical News Today, July 13

Funding

• Clinically Relevant Genetic Variants Resource: A Unified Approach for Identifying Genetic Variants for Clinical Use (U01)

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CDC-Authored Genomics Publications

CDC authors are indicated in bold

View previous CDC-authored publications

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