Genomics & Health Impact Update
Volume 31 Number 6 August 8 - August 15, 2013 About the Update
CDC paper: Recommendations for returning genomic incidental findings? We need to talk!
Wylie Burke et al. Genetics in Medicine 2013 Aug 1
CDC blog post: On spinning wheels and genomes revealed: sequencing is no longer a sleeping controversy. March 2013
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing, Genetics in Medicine, Jun 2013
Bringing genome-wide association findings into clinical use.
Teri A. Manolio. Nat Rev Genetics, July 2013
GWAS Series: In the past 2 years genome-wide association studies in humans have revealed dozens of disease-associated loci, Nature Rev Genetics
Check out the GWAS Catalog at the National Human Genome Research Institute
'Results may vary’ with at-home gene tests, Futurity, July 18
Variations in predicted risks in personal genome testing for common complex diseases, Genetics in Medicine, June 2013
CDC paper: Scientific foundation for using personal genomic tests to improve health and prevent disease, Genetics in Medicine
CDC blog post: Think after you spit: personal genomic tests and the teachable moment (2012)
Consumer genetics conference, Boston, September 23-25, 2013
Direct-to-consumer genetic testing: To test or not to test, that is the question
Dandara C, et al. S Afr Med J 2013 Aug;103(8):510-2
CDC information: Health disparities in cancer
Underutilization of BRCA1/2 testing to guide breast cancer treatment: Black and Hispanic women particularly at risk.
Levy D, et al. Genetics in Medicine, 2011
Minireview: The molecular and genomic basis for prostate cancer health disparities
Isaac J. Powell and Aliccia Bollig-Fischer. Molecular Endocrinology, Jun 2013
CDC National Registry of Recognized Diabetes Prevention Programs: Can be used by health care providers to refer patients to a local program; and to also help people who want to make a lifestyle change to prevent type 2 diabetes.
CDC information: Prediabetes: Am I at risk?
CDC information: Does diabetes run in your family? Take steps towards better health!
Did you know? More than 3000 genes have been reported with risk of type 2 diabetes and its outcomes, including more than 120 genomewide association studies. To find out more, visit the HuGE Navigator
Check out genetic disorders and tests associated with diabetes at the NIH Genetic Testing Registry
CDC feature: E. coli infection and food safety
Pediatric hemolytic uremic syndrome, Medscape, June 29
What is atypical hemolytic-uremic syndrome? From the NIH Genetics Home Reference
Did you know: 63 genes have been reported with Hemolytic-Uremic Syndrome. To find out more, visit the HuGE Navigator
CDC blog post: Genome vs genome (2011)
Integrative genomic analysis of the human immune response to influenza vaccination [PDF 4.03 MB]
Luis M Franco et al. elife July 2013
Could changes in gene expression be used to predict which individuals will respond to the influenza vaccine? Ferreira P et al. elife, July 2013
The role of host genetics in susceptibility to influenza: A systematic review
Peter Horby et al. PLoS One, 2012
Role of polymorphisms in host immune genes in determining the severity of respiratory illness caused by pandemic H1N1 influenza.
Kenyan W, et al. Public Health Genomics, Mar 2013
CDC paper: A pilot study of host genetic variants associated with influenza-associated deaths among children and young adults.
Ferdinands J et al. Emerging Inf Dis 2011
Human to human transmission of H7N9
Rudge J et al. BMJ 2013;347:f4730
Genetic code shows bird flu in China spread between people, NPR Health, Aug 6
Incorporating DNA sequencing into current prenatal screening practice for Down's syndrome
Wald NJ, Bestwick JP. PLoS One. 2013;8(3):e58732.
Non-invasive prenatal testing for Down's syndrome: Pregnant women's views and likely uptake.
Lewis C, et al. Public Health Genomics. 2013 Jul 25
A new era in noninvasive prenatal testing
Morain S, et al. N Engl J Med. 2013 Jul 17.
Learning about Down syndrome, from the National Human Genome Research Institute
Translational research in genomic medicine: What can genomic medicine offer today? How can genomics improve screening and prevention of disease? Emory University-CDC Course, Atlanta, Georgia, August 15-16
Beyond the bloodspot: How will emerging technologies shape detection & clinical care? Washington DC, August 20
Living with Lynch conference, Minneapolis, Minnesota, September 14
A multigene expression assay to predict local recurrence risk for ductal carcinoma in situ of the breast.
Solin LJ, et al. J Natl Cancer Inst. 2013 May 15;105(10):701-10.
Genomic scoring helps predict ductal carcinoma recurrence in patients with breast cancer, Oncology Nurse Advisor, Aug 1
Contralateral prophylactic mastectomy for breast cancer: Addressing peace of mind
Steven J. Katz; Monica Morrow, JAMA, August 1
Epigenetic modifications in breast cancer and their role in personalized medicine.
Stefansson OA et al. Am J Pathology
Deciphering the genetic architecture of low penetrance susceptibility to colorectal cancer.
Whiffin N,et al Hum Mol Genet. 2013 Jul 30
Gynecologic cancer screening and communication with health care providers in women with Lynch syndrome
Burton-Chase AM, et al. Clin Genet 2013 Jul
Identification of a 5-gene signature for clinical and prognostic prediction in gastric cancer patients upon microarray data
Wang Z, et al. Med Oncol2013 Sep: 30(3):678
The attitudes of people with sarcoma and their family towards genomics and incidental information arising from genetic research
Young MA, et al. Clin Sarcoma Res 2013 Jul;3(1):11
Who gets genomic testing for breast cancer recurrence risk?
Defrank JT, et al. Public Health Genomics 2013 Jul
Parent and child cigarette use: A longitudinal, multigenerational study
Mike Vuolo and Jeremy Staff, Pediatrics, August 5
If parents ever smoked, teens may be more likely to light up, HealthDay Aug 5
CHACO outreach project: the development of a primary health care-based medical genetic service in an Argentinean province
Barreiro CZ, et al. J Community Genet 2013 Aug
Flexible approaches for teaching computational genomics in a health information management program.
Leming Zhou, et al. Perspect Health Inf Manag. Summer 2013
Clinical utility gene card for: 3-M syndrome - update 2013
Holder-Espinasse M, et al. Eur J Hum Genet 2013 Jul
Short read (Next-gen) sequencing: A tutorial with cardiomyopathy diagnostics as an exemplar.
Punetha J, Hoffman EP. Circ Cardiovasc Genet. 2013 Jul 14.
Decision-making process for conditions nominated to the recommended uniform screening panel: Statement of the US Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children.
Alex R. Kemper et al. Genetics in Medicine, August 1, 2013
Newborn screening for homocystinuria
Walter JH, et al. Cochrane Database Syst Rev 2013 Aug;8:CD008840
New York Department of Health celebrates 50 years of newborn screening, Legislative Gazette, Aug 6
Kids learn about health screenings with furry friends, Courier Post, Jul 31
‘It really is all about the babies’: 50 years of screening: Testing newborns can prevent lifelong illness, by Charlotte Tucker, The Nation’s Health, Aug 2013
The National Newborn Bloodspot Screening Programme (NNBSP) process review 2010
Jennings P, et al. Ir Med J 2013 Jun;106(6):171-3
Clinical applications of pharmacogenetics: Present and near future
Gladding PA Cleve Clin J Med 2013 Aug;80(8):477-82
Determination of genotype combinations that can predict the outcome of the treatment of alcohol dependence using the 5-HT3 antagonist ondansetron.
Johnson, BA, et al. American Journal of Psychiatry. 2013 July 30.
Personalized estimates of benefit from preventive care guidelines: A proof of concept
Glen B. Taksler et al. Annals of Internal Medicine, Aug 6
The TREAT-NMD Duchenne muscular dystrophy registries: Conception, design and utilisation by industry and academia
Bladen CL, et al. Hum Mutat 2013 Aug
If I'm healthy, why should I have my genome sequenced? Mermaid’s Tale blog post, Aug 6
Don’t call it “junk DNA” anymore, GenNewsHighlights, Aug 5
NIH ‘superbug’ was thwarted with help of two scientists (an epidemiologist and a genomicist), Washington Post, Jul 31
Close encounters of the microbial kind, by Kathie Y. Sun, NHGRI, Jul 31
Novelty in the target landscape of the pharmaceutical industry
Pankaj Agarwal et al. Nature Reviews Drug Discovery Vol: 12, Pag: 575–576 (2013)
Validating therapeutic targets through human genetics
Robert M. Plenge et al. Nat Rev Drug Discovery, Jul 19
Barriers to the genomic revolution? By Dr Philippa Brice, PHG Foundation, Aug 1
Tumor-biomarker diagnostics- breaking a vicious cycle
Daniel F. Hayes et al. Sci Trans Med, Jul 31
A strong start for electronic health records in the United States, by Julia Adler-Milstein and Ashish K. Jha. Newsatjama, Aug 2
Understanding the effects of genes on human traits, by Mike Spear Genomics Blog, Aug 1
DNA methylation contributes to natural human variation.
Heyhn H et al. Genome Res. 2013 Aug 1.
GEMINI: Integrative exploration of genetic variation and genome annotations
Paila U, et al. PLoS Comput Biol 9(7): e1003153.
The Canadian "National program for hemophilia mutation testing" database: A ten-year review
Rydz N, et al. Am J Hematol 2013 Aug
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The CDC Office of Public Health Genomics makes available the above information as a public service only. The items in the update come from news articles and scientific articles and abstracts published during the past week. The headlines and lead sentences are exactly as they appear & do not necessarily reflect the opinions, recommendations, or endorsement by the CDC. Note that some links may become invalid over time.
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