Genomics & Health Impact Update
Volume 30 Number 26 June 27 - July 3, 2013
CDC information: Public health action is now needed beyond newborn screening
CDC feature: Breast cancer disparities
Amplifying the voice of the underserved in the implementation of the Affordable Care Act, Institute of Medicine Discussion Paper, June 21
Genomics and Cancer Survivorship
CDC feature: Cancer survivorship
NCI paper: Leveraging epidemiology and clinical studies of cancer outcomes: Recommendations and opportunities for translational research.
Joanne W. Elena et al. JNCI 2013
Barriers to breast and colorectal cancer survivorship care: Perceptions of primary care physicians and medical oncologists in the United States
Katherine S. Virgo et al. J Clinical Oncology 2013 May 20
CDC feature: Middle East Respiratory Syndrome
Hospital outbreak of middle east respiratory syndrome coronavirus.
Abdullah Assiri, et al. NEJM, June 26
Genome sequencing tracks outbreak of novel pneumonia virus, by Dr Philippa Brice, PHG Foundation, Jun 24
Can heart attacks be prevented? Know your ABCS, the Million Hearts Initiative
CDC information: Genomics, family history & heart disease
Early family history of heart disease informs earlier screening for cholesterol, US Preventive Services Task Force
What is familial hypercholesterolemia? Information from the FH Foundation
Type 1 Diabetes
Seroconversion to multiple islet autoantibodies and risk of progression to diabetes in children
Anette G. Ziegler et al. JAMA June 19
The evolution of type 1 diabetes.
Jay S. Skyler; Jay M. Sosenko JAMA June 19
When does Type 1 diabetes begin to develop? Research reveals how to identify those at highest risk. American Diabetes Association 2013 meeting session
Children and diabetes — More CDC Information
Did you know? 639 genes have been reported in relation to risk and outcomes of type 1 diabetes, including 32 genomewide association studies. The most common reported genes are HLA related. To find out more, visit the HuGE Navigator
CDC information: Learn the signs and symptoms of TB disease
Did you know? 286 genes have been reported in relation to tuberculosis susceptibility & outcomes, including 9 genomewide association studies. To find out more, visit the HuGE Navigator
CDC information: Cytomegalovirus: Protect your baby
Did you know? 66 genes have been reported in relation to cytomegalovirus infection/outcomes, including 2 genomewide association studies. To find out more, visit the HuGE Navigator
Fifth Annual Consumer Genomics Conference, Sept 25-27, Boston, MA
Individualizing Medicine Conference, September 30 - October 2, Rochester, MN
The 14th International Meeting on Human Genome Variation and Complex Genome Analysis (HGV2013), September 30th – October 2nd, Seoul, South Korea
Third Annual Translational Bioinformatics Conference, October 2-4, Seoul, South Korea
The 5th Annual Personalized Medicine Conference- The Emerging Practice of Personalized Medicine, October 21-22, Boston, MA
PCORI’s Engagement Awards: A New Opportunity to Build New Research Partnerships
by Anne C. Beal, MD, MPH, Susan Sheridan, MBA, MIM, and Suzanne Schrandt, JD, Jun 17
NIH Funding: Person-Centered Outcomes Research Resource (U2C)
A comparison of the detection of BRCA mutation carriers through the provision of Jewish population-based genetic testing compared with clinic-based genetic testing
Metcalfe KA, et al. Br J Cancer 2013 Jun
Aspirin use and risk of colorectal cancer according to BRAF mutation status
Reiko Nishihara, Paul Lochhead, Aya Kuchiba, et al. JAMA. 2013;309(24):2563-2571.
Differential effects of aspirin before and after diagnosis of colorectal cancer
Boris Pasche JAMA. 2013;309(24):2598-2599.
Association between genomic recurrence risk and well-being among breast cancer patients
Retel VP, et al. BMC Cancer 2013 Jun;13(1):295
BreastPRS is a gene expression assay that stratifies intermediate-risk Oncotype DX patients into high- or low-risk for disease recurrence
D'Alfonso TM, et al. Breast Cancer Res Treat 2013 Jun
Comprehensive molecular characterization of clear cell renal cell carcinoma.
The Cancer Genome Atlas Research Network. Nature, June 23
Deep sequencing accurately predicts prolonged survival in multiple myeloma patients, Jo Cavallo, ASCO Post, Jun 26
Ethics, Policy and Law
Data sharing in large research consortia: experiences and recommendations from ENGAGE.
Isabelle Budin-Ljøsne et al. EJHG June 19
A victory for genes, Spoonful of Medicine, Nature Medicine, Jun 24
Creating a global alliance for sharing of genomic and clinical data, White House Blog Post, Jun 20
Improving assessment of cardiovascular disease risk by using family history: an integrative literature review
Kashani M, et al. J Cardiovasc Nurs 2013 Jun
Racial and ethnic variations in the effects of family history of colorectal cancer on screening compliance
Perencevich M, et al. Gastroenterology 2013 Jun
Genomics in Practice
Genetic testing practices in infants with congenital heart disease
Connor JA, et al. Congenit Heart Dis 2013 Jun
Use of genetic tests among neurologists and psychiatrists: knowledge, attitudes, behaviors, and needs for training
Salm M, et al. J Genet Couns 2013 Jun
Genetic testing for psychiatric disorders: Its current role in clinical psychiatric practice, By Jehannine Austin, Psychiatric Times, Jun 11
Genetics in primary care: Seven key roles for the primary care provider, Genetics and Primary Care Institute
Special report: Multiple molecular testing of cancers to identify targeted therapies, Blue Cross Blue Shield Association Technology Evaluation Center (TEC), Jun 25
Guidelines and Recommendations
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Robert C. Green et al. Genetics in Medicine, Jun 20
NICE recommends preventive drugs for breast cancer-Women with a high risk of developing breast cancer (a lifetime risk of 30% or more) should be offered tamoxifen or raloxifene for five years, NICE recommends
BMJ 25 June 2013
Institute of Medicine Report: The CTSA Program at NIH: Opportunities for advancing clinical and translational research, June 25, 2013
Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening
Waisbren SE, et al. Dev Disabil Res Rev 2013 Jun;17(3):260-8
Utah now screening infants for ‘boy in the bubble’ syndrome Utah to screen at birth for “boy in the bubble” syndrome; earlier test may have kept girl from “heartbreaking” ordeal, by Kirsten Stewart, The Salt Lake Tribune, Jun 23
Pharmacogenomics: Recent advances and future directions, special section in the June issue of the Journal of Human Genetics
Public Health Sciences
Environmental and genomic factors as well as interventions influencing smoking cessation: A systematic review of reviews and a proposed working model
de Viron S, et al. Public Health Genomics 2013 Jun
Intermediate-dose versus high-dose prophylaxis for severe hemophilia: comparing outcome and costs since the 1970s.
Fischer K,et al. Blood. 2013 Jun 18
Lessons learned from implementing a national infrastructure in Sweden for storage and analysis of next-generation sequencing data. [PDF 281.93 KB]
Lampa S, et al. BioMedCentral Jun 25
Next-generation sequencing in genetic hearing loss
Yan D, Tekin M, Blanton SH, et al. Genet Test Mol Biomarkers. 2013 Jun 5.
Goal of identifying nearly all genetic causes of deafness is within reach, Medical News Today, Jun 24
Reviews and Commentaries on Science & Technology
Father’s genetic quest pays off- Mutation provides clue to daughter’s undefined syndrome. By Brendan Maher, Nature News, Jun 26
The body-data craze- technology has revolutionized what we can measure about ourselves. But is all that tracking good for our health? By Alissa Quart , The Daily Beast, Jun 26
The limits to de-identification of clinical data, by William Hersh, Informatics Professor, Jun 23
The genome's 3-D structure shapes how genes are expressed, Science Daily Jun 22
Population medicine: Let's get over it! Eric Topol, Topolog, Jun 21
Bacterial DNA in human genomes, by Ed Yong, The Scientist, Jun 20
Light and nanoprobes detect early signs of infection, Duke University News Release, Jun 20
The American Statistical Association and big data, AmStatNews, Jun 2013
Listening to the genome: Music or noise? by Carl Zimmer, National Geographic, Jun 2013
Tools and Databases
The NGS WikiBook: a dynamic collaborative online training effort with long-term sustainability.
Briefings in Bioinformatics, June 21
Providing access to risk prediction tools via the HL7 XML-formatted risk web service
Chipman J, et al. Breast Cancer Res Treat 2013 Jun
CDC authors are indicated in bold
Human G9P rotavirus strains circulating in Cameroon, 1999-2000: genetic relationships with other G9 strains and detection of a new G9 subtype
Esona MD, Mijatovic-Rustempasic S, Foytich K, Roy S, Banyai K, Armah G, Steele A, Volotao E, Gomez M, Silva M, Gautam R, Quaye O, Tam K, Forbi J, Seheri M, Page N, Nyangao J, Ndze V, Aminu M, Bowen M, Gentsch J. Infect Genet Evol. 2013 Jun 13.
Antimicrobial resistance genes in multidrug-resistant Salmonella enterica isolated from animals, retail meats, and humans in the United States and Canada
Glenn LM, Lindsey RL, Folster JP, Pecic G, Boerlin P, Gilmour MW, Harbottle H, Zhao S, McDermott PF, Fedorka-Cray PJ, Frye JG. Microb Drug Resist. 2013 Jun;19(3):175-84.
Prevalence, characteristics and clinical diagnosis of maturity onset diabetes of the young due to mutations in HNF1A, HNF4A, and glucokinase: results from the SEARCH for Diabetes in Youth
Gilliam LK, Pihoker C, Ellard S, Hattersley AT, Dabelea D, Davis C, Dolan LM, Greenbaum CJ, Imperatore G, Lawrence JM, Marcovina SM, Mayer-Davis E, Rodriguez BL, Steck AK, Williams DE. J Clin Endocrinol Metab. 2013 Jun 14.
Plasmodium vivax merozoite surface protein-3 (PvMSP3): expression of an 11 member multigene family in blood-stage parasites
Jiang J, Barnwell JW, Meyer EV, Galinski MR. PLoS One. 2013 ;8(5):e63888.
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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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