Genomics & Health Impact Update
Volume 31 Number 7 August 15 - August 22, 2013 About the Update
The EGAPP Initiative: Lessons learned
EGAPP Working Group, Genetics in Medicine, Aug 8
The EGAPP Working Group was established by CDC in 2005 to support the development of a systematic process for assessing the available evidence regarding the validity and utility of rapidly emerging genetic tests for clinical practice.
EGAPP methods update 2013
Veenstra et al., Genetics in Medicine (2012)
EGAPP approach to binning whole genome sequence information: a novel approach and pilot results. [PDF 656.44 KB]
Goddard K et al., Genetics in Medicine 2013
Upcoming EGAPP Working Group meeting, August 19-20, Atlanta, Georgia
CDC Advanced Molecular Detection Initiative: Ramping up genomics and bioinformatics capacity in public health
A special issue of the American Journal of Public Health with a focus on intersection between genetics and behavioral and social research
Advancing scientific inquiry by blurring research boundaries
Kaplan RM, et al. AJPH 2013 Aug 8
Genes can point to environments that matter to advance public health
Bearman PS AJPH 2013 Aug 8
Integration of behavioral, social science and genetics research: exploring public health significance
Michael L. Spittel, et al. AJPH Aug 8
Rethinking our public health genetics research paradigm
Abdulrahman M et al. AJPH Aug 8
Genetics in population health science: Strategies and opportunities
Daniel W. Belsky, et al. AJPH Aug 8
Social regulation of human gene expression: Mechanisms and implications for public health
Steven W. Cole AJPH Aug 8
Conceptual shifts needed to understand the dynamic interactions of genes, environment, epigenetics, social processes, and behavioral choices
Fatimah L. C. Jackson, et al. AJPH Aug 8
Genomics and the nature of behavioral and social risk
Matt McGue. AJPH Aug 8
The dialogue between social environments and the genome
Moshe Szyf AJPH Aug 8
NIH-CDC paper: Health applications of genomics: Priorities for communication, behavioral & social sciences
Mc Bride C, et al. Am J Prev Med. 2010 May;38(5):556-65.
Quality standard of care for familial hypercholesterolaemia in the UK, [PDF 125.48 KB] National Institute for Clinical Excellence, August, 2013
What is familial hypercholesterolemia? It is a common genetic condition associated with premature heart disease and stroke, FH Foundation information
CDC podcast: Cascade screening in familial hypercholesterolemia
Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands
Kindt I, et al. Cholesterol 2013;2013:531658
International Familial Hypercholesterolemia Summit, September 19, Annapolis, Maryland
The impact of systems improvements: A progress review of healthcare-associated infections & blood disorders and blood safety, register for an online webinar for August 28
Genomics and Healthy People 2020: what gets measured gets done, CDC blog post (2012)
CDC information: Learn about stroke
Stroke is a complication of sickle cell disease. To find out more, visit the CDC sickle cell disease complications and treatments page
Did you know? 925 genes have been reported with risk of stroke and related outcomes, including 55 genomewide association studies. To find out more, visit the HuGE Navigator
Call for nominations: Million Hearts® blood pressure control champions!
High blood pressure is out of control for too many Americans. The latest data show that nearly 1 in 3 American adults has high blood pressure, and more than half don't have it under control
Did you know? 1558 genes have been reported with high blood pressure and outcomes, including 82 genomewide association studies. To find out more, visit the HuGE Navigator
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
Full genome of influenza A (H7N9) virus derived by direct sequencing without culture
Xianwen Ren et al. Emerg Infectious Dis Nov 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
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
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
Beyond the bloodspot: How will emerging technologies shape detection & clinical care? August 20 ~ Washington DC
American College of Epidemiology: Innovation in Epidemiology: Reframing Approaches to Research Questions, September 21-24 ~ Louisville, KY
The 5th Annual Personalized Medicine Conference, October 21-22 ~ Boston, MA
Age at diagnosis may trump family history in driving BRCA testing in a population of breast cancer patients
Vig H, et al. Cancer Epidemiol Biomarkers Prev 2013 Aug
Cost-effectiveness of screening women with familial risk for breast cancer with magnetic resonance imaging
Saadatmand S, et al. J Natl Cancer Inst 2013 Aug
Diagnostic value of stool DNA testing for multiple markers of colorectal cancer and advanced adenoma: A meta-analysis
Yang H, et al. Can J Gastroenterol 2013 Aug;27(8):467-75
Quality of life after surgery in individuals with familial colorectal cancer: does extended surgery have an adverse impact?
Pollett WG, et al. ANZ J Surg. 2013 Aug 7.
Performance and cost efficiency of KRAS mutation testing for metastatic colorectal cancer in routine diagnosis: The MOKAECM study, a nationwide experience
Blons H, et al. PLoS One 2013;8(7):e68945
Personalizing the treatment of women with early breast cancer: highlights of the St Gallen International Expert Consensus on the primary therapy of early breast cancer 2013
Goldhirsch A, et al. Ann Oncol 2013 Aug
Psychosocial approaches to participation in BRCA1/2 genetic risk assessment among African American women: a systematic review
Sherman KA, et al. J Community Genet 2013 Aug
Risk of thyroid cancer in relatives of patients with medullary thyroid carcinoma by age at diagnosis
Fallah M, et al. Endocr Relat Cancer 2013 Aug
Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers.
Phillips KA, et al. J Clin Oncol. 2013 Aug 5.
Tamoxifen for prevention in high-risk breast cancer, Medical News Today, Aug 9
The emerging role of the molecular diagnostics laboratory in breast cancer personalized medicine
De Abreu F et al. Am J Pathol 2013 Aug 5
Validation of next generation sequencing technologies in comparison to current diagnostic gold standards for BRAF, EGFR and KRAS mutational analysis
McCourt CM, et al. PLoS One 2013;8(7):e69604
Anonymizing patient genomic data for public sharing association studies
Fernandez-Lozano C, et al. Stud Health Technol Inform 2013;192:979
Ethical and legal implications of whole genome and whole exome sequencing in African populations
Wright GE, et al. BMC Med Ethics 2013;14:21
Mandatory extended searches in all genome sequencing: "incidental findings," patient autonomy, and shared decision making
Ross LF, et al. JAMA 2013 Jul;310(4):367-8
Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional
Green RC, et al. JAMA 2013 Jul;310(4):365-6
Return of secondary genomic findings vs patient autonomy: implications for medical care
Klitzman R, et al. JAMA 2013 Jul;310(4):369-70
Playing with heart and soul…and genomes: sports implications and applications of personal genomics.
Jennifer K. Wagner PeerJ Aug 2013
Regulating genomics: Time for a broader vision
Efy Vayena and Barbara Prainsack Sci Transl Med 14 Aug 2013: Vol. 5, Issue 198, p. 198ed12
Return of whole-genome sequencing results in paediatric research: a statement of the PG international paediatrics platform
Knoppers BM, et al. Eur J Hum Genet 2013 Aug
Analysis of family health history based risk assessment algorithms: classification and data requirements
Ranade-Kharkar P, et al. Stud Health Technol Inform 2013;192:1205
Genomics education for health educators in Texas: The family health history training program
Goodson P, et al. Public Health Genomics 2013 Aug
Patient and primary care provider experience using a family health history collection, risk stratification, and clinical decision support tool: a type 2 hybrid controlled implementation-effectiveness trial
Wu RR, et al. BMC Fam Pract 2013 Aug;14(1):111
Criteria for fairly allocating scarce health-care resources to genetic tests: which matter most?
Rogowski WH, et al. Eur J Hum Genet 2013 Aug
MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting
Gatta V, et al. BMC Med Genet 2013 Aug;14(1):79
The pregnancy & health profile: A risk assessment & screening tool, NCHPEG and March of Dimes
Clinical utility gene card for: Hypophosphatasia - update 2013
Mornet E, et al. Eur J Hum Genet 2013 Aug
Genetic testing information standardization in HL7 CDA and ISO13606
Bosca D, et al. Stud Health Technol Inform 2013;192:338-42
The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders.
Vandana Shash et al. Genetics in Medicine, 2013 Aug 8
Early detection of prostate cancer: AUA guideline
Carter HB, et al. J Urol 2013 Aug;190(2):419-26
Rapid gene expression test for breast cancer spread, PHG Foundation, Aug 13
Clinical and pharmacogenetic predictors of circulating atorvastatin and rosuvastatin concentration in routine clinical care
DeGorter M, et al. Circulation: Cardiovascular Genetics 2013
Cost-effectiveness analysis of carrier and prenatal genetic testing for X-linked hemophilia
Tsai MC, et al. J Formos Med Assoc 2013 Aug
Canadian project to compare non-invasive prenatal tests, PHG Foundation, Aug 14
Mutational signature of aristolochic acid exposure as revealed by whole-exome sequencing.
Margaret L. Hoang et al. Sci Transl Med August 7
Genome-wide mutational signatures of aristolochic acid and its application as a screening tool.
Song Ling P et al. Sci Trans Med August 7
Genomics traces carcinogen fingerprints.
William Lee and Marc Ladanyi. Sci Trans Med August 7
Early hits and long-term consequences: Tracking the lasting impact of prenatal smoke exposure on telomere length in children
Katherine P. Theall, et al. AJPH August 8
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs
Nature Genetics, August 11
Mediterranean diet reduces the adverse effect of the TCF7L2-rs7903146 polymorphism on cardiovascular risk factors and stroke incidence
Corella D, et al. Diabetes Care 2013 Aug 13
Patient compliance based on genetic medicine: a literature review
Schneider KI & Schmidtke J J Community Genet 2013 Aug
Nature 500,121 2013 Aug 8
Is the global NGS market worth billions? PHG Foundation, Aug 15
Seemingly unimportant mutations can foster disease, by Ed Yong, Scientific American, Aug 15
More women consider gene test after Angelina Jolie mastectomy revelation, Health Day, Aug 14
The fall and rise of gene therapy, Wired, Aug 13
If I'm not healthy, should I have my genome sequenced? The Mermaids Tale, Aug 13
If I'm healthy, why should I have my genome sequenced? The Mermaids Tale, Aug 6
Talent or skill?: Homing in on the elusive 'sports gene', National Public Radio, Aug 5
Earth's life-forms collected to aid in genetic research: The Smithsonian plans to create a huge bank of genetic samples to enable study of the planet's diversity through DNA sequencing, National Geographic, Aug 5
Genes in Life - is a user-friendly resource for anyone interested in genetics and health, with a primary focus on genetic services
New web resources on genetic test services in the UK, by Dr Philippa Brice, Aug 9
SNVHMM: predicting single nucleotide variants from next generation sequencing.
Bian J et al. BMC Bioinformatics. July 2013
Text categorization of heart, lung, and blood studies in the database of genotypes and phenotypes (dbGaP) utilizing n-grams and metadata features
Ross MK, et al. Biomed Inform Insights 2013;6:35-45
CDC authors are indicated in bold
Shared Mycobacterium avium genotypes observed among unlinked clinical and environmental isolates
Dirac MA, Weigel KM, Yakrus MA, Becker AL, Chen HL, Fridley G, Sikora A, Speake C, Hilborn ED, Pfaller S, Cangelosi GA. Appl Environ Microbiol. 2013 Jul 12.
Disparate distribution of hepatitis B virus genotypes in four sub-Saharan African countries
Forbi JC, Ben-Ayed Y, Xia GL, Vaughan G, Drobeniuc J, Switzer WM, Khudyakov YE. J Clin Virol. 2013 Jul 16.
Genotype GI.6 norovirus, United States, 2010-2012
Leshem E, Barclay L, Wikswo M, Vega E, Gregoricus N, Parashar UD, Vinje J, Hall AJ.Emerg Infect Dis. 2013 Aug;19(8):1317-20.
Family history of myocardial infarction is a risk factor for venous thromboembolism among whites but not among blacks
Mili FD, Hooper WC, Lally C, Austin H. Clin Appl Thromb Hemost. 2013 Jul;19(4):410-7.
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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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