Genomics & Health Impact Update
Volume 31 Number 5 August 1 - August 8, 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
Did you know? There are more than 9000 specific gene-disease associations reported in genomewide association studies. To find out more, visit the HuGE Navigator
Check out the GWAS Catalog at the National Human Genome Research Institute
CDC paper: Recommendations for returning genomic incidental findings? We need to talk!
Wylie Burke et al. Genetics in Medicine 2013 Aug 1
Reporting genomic sequencing results to ordering clinicians: Incidental, but not exceptional
Robert C. Green, et al. JAMA. 2013;310(4):365-366.
Mandatory extended searches in all genome sequencing: “incidental findings,” patient autonomy, and shared decision making
Lainie Friedman Ross, et al. JAMA. 2013;310(4):367-368.
Return of secondary genomic findings vs patient autonomy: Implications for medical care
Robert Klitzman, et al. JAMA. 2013;310(4):369-370.
Incidental swimming with millstones.
Stephen F. Kingsmore Sci Transl Med 17 July 2013
Did you know? 1572 genes have been reported in relation to obesity risk and outcomes, including 138 genomewide association studies. To find out more, visit the HuGE Navigator
Find out about genetic conditions associated with obesity, gene reviews and available genetic tests using the NIH Genetic Testing Registry
Gene × physical activity interactions in obesity: Combined analysis of 111,421 individuals of European ancestry
Ahmad S, et al. PLoS Genetics
Rare gene mutations suggest one more path to obesity, by Rebecca Voelker, JAMA News, Jul 18
Overweight? Maybe you really can blame your genes, by Gina Kolata, New York Times, Jul 18
Stop blaming genetics for your weight, M Hart, Huffington Post, Jul 19
Obesity gene boosts hunger hormone, by Rebecca Bazeley, PHG Foundation, Jul 23
'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 feature: Aging and health in America, 2013
Genetics and genomics of human aging.
Heather E. Wheeler and Stuart K. Kim Philos Trans R Soc Lond B Biol Sci. 2011 January 12; 366(1561): 43–50.
A genome-wide association study of aging.
Neurobiol Aging. 2011 Nov;32(11):2109.e15-28.
CDC information:Why is family history important for your health at any age?
Information on genomics in selected diseases related to aging:
Alzheimer's disease genetics fact sheet, from the National Institute on Aging
Age-related macular degeneration genetics, from the NIH Genetics Home Reference
Heart disease, genomics and family history, CDC information
Breast and ovarian cancer, genomics and family health history, CDC information
Colorectal cancer, genomics and family history, CDC information
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
CDC feature: World Hepatitis Day was July 28
CDC paper: Viral hepatitis C gets personal - The value of human genomics to public health
Zhang L,et al.. Public Health Genomics 16(4) 2013
Genome-wide association study identifies new variants associated with the risk of chronic hepatitis B.
Kim YJ, et al. Hum Mol Genet 2013 Jun 26
Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma.
Jiang DK, et al. Nat Genet 2013 Jan;45(1):72-5.
Genome-wide association study of spontaneous resolution of hepatitis C virus infection: data from multiple cohorts.
Duggal P, et al. Ann Intern Med. 2013 Feb 19;158(4):235-45.
Did you know: 1282 genes have been reported with hepatitis risk and outcomes, including 44 genomewide association studies. To find out more, visit the HuGE Navigator
Find out which genetic conditions and what genetic tests are available for hepatitis. Visit the NIH Genetic Testing Registry
CDC information: Symptoms of ovarian cancer
NCI information: Some ovarian cancers are caused by inherited gene mutations.
CDC information: The importance of family health history in breast and ovarian cancer
CDC paper: Issues of ovarian cancer survivors in the USA: a literature review
Trivers KF, et al. Support Care Cancer. 2013 Jul 12.
Did you know: 758 genes have been reported in relation to risk and outcomes of ovarian cancer, including 14 genomewide association studies. BRCA1 and BRCA2 are the most common studied genes. To find out more, visit the HuGE Navigator
Did you know: 15 genetic conditions are associated with ovarian cancer and 11 genetic tests are available. To find out more, visit the NIH Genetic Testing Registry
Beyond the bloodspot: How will emerging technologies shape detection & clinical care? Washington DC, August 20, 2013
A genetic score can identify men at high risk for prostate cancer among men with prostate-specific antigen of 1-3 ng/ml
Nordstrom T, et al. Eur Urol 2013 Jul
Challenges to implementation of an epidermal growth factor receptor testing strategy for non-small-cell lung cancer in a publicly funded health care system
Ellis PM, et al. J Thorac Oncol 2013 Jul
First-degree relatives of early-onset gastric cancer patients show a high risk for gastric cancer: phenotype and genotype profile
Marcos-Pinto R, et al. Virchows Arch 2013 Jul
Molecular analysis of thymoma.
Badve S, et al. PLoS One 2012;7(8):e42669.
Gene test highly accurate in predicting metastasis in patients with thymoma, Medical News Today, Jul 26
Utility of MLH1 methylation analysis in the clinical evaluation of Lynch syndrome in women with endometrial cancer.
Bruegl AS, et al. Curr Pharm Des. 2013 Jul 19.
Ethics, Policy and Law
'Born in Michigan? You're in the biobank': Engaging population biobank participants through facebook advertisements.
Platt JE, et al. Public Health Genomics. 2013 Jun 21
The future of gene patents and the implications for medicine
Jacob S. Sherkow, et al. JAMA Intern Med. 2013 Jul 29
Private data, public good? Wellcome Trust Blog, Jul 30
Understanding of informed consent by parents of children enrolled in a genetic biobank
Klima J, et al. Genet Med. 2013 Jun 27.
Parents don't fully understand biobank research, Study Finds, Science Daily, Jul 29
Consideration of family history of cancer in medical routine: a survey in the primary care setting in Germany
Fiederling J, et al. Eur J Cancer Prev 2013 Jul
Family history of cancer and increased risk of several cancers- a network of case–control studies
Turati F, et al. Ann Oncol (2013) Jul 24
Family history of cancer may raise risk for other types of tumors, Medline Plus, Jul 25
Family history: Impact on coronary heart disease risk assessment beyond guideline-defined factors
Hasanaj Q, et al. Public Health Genomics 2013 Jul
Genomics in Practice
Educational needs and preferred methods of learning among Florida practitioners who order genetic testing for hereditary breast and ovarian cancer
Cragun D, et al. J Cancer Educ 2013 Jul
Implementation of a breast cancer genetic service in South Africa - lessons learned
Schoeman M, et al. S Afr Med J 2013 Aug;103(8):529-33
Improving the management of people with a family history of breast cancer in primary care: before and after study of audit-based education
Rafi I, et al. BMC Fam Pract 2013 Jul;14(1):105
BRAF V600E mutation analysis simplifies the testing algorithm for Lynch syndrome.
Jin M, Hampel H, et al. Am J Clin Pathol. 2013 Aug;140(2):177-83.
Clinical utility gene card for: Alagille Syndrome (ALGS)
Leonard LD, et al. Eur J Hum Genet 2013 Jul
Guidelines and Recommendations
ACMG clinical laboratory standards for next-generation sequencing
Rehm HL, et al. Genet Med 2013 Jul
Newborn screening: Education, consent, and the residual blood spot. The position of the National Society of Genetic Counselors
Blout C, et al. J Genet Couns 2013 Jul
Differences in pharmacogenomic biomarker information in package inserts from the United States, the United Kingdom and Japan
Shimazawa R & Ikeda M J Clin Pharm Ther 2013 Jul
Pharmacogenetic testing in the face of unclear clinical efficacy: Lessons from cytochrome P450 2D6 for tamoxifen
Peppercorn J, et al. Cancer 2013 Jul
Non-invasive prenatal testing for Down's syndrome: Pregnant women's views and likely uptake
Lewis C, et al. Public Health Genomics 2013 Jul
Public viewpoints on new non-invasive prenatal genetic tests
Farrimond HR & Kelly SE Public Underst Sci 2013 Aug;22(6):730-44
Public Health Sciences
A novel channelopathy in pulmonary arterial hypertension
Ma L, et al. N Engl J Med 2013; 369:351-361 Jul 25
Gene uncovered by whole-exome sequencing suggests potential treatment for some pulmonary arterial hypertension cases, Genome Web, Jul 26 [by free subscription only]
Making headway with genetic diagnostics of intellectual disabilities
Willemsen MH & Kleefstra T Clin Genet 2013 Jul
Reviews and Commentaries on Science & Technology
Overdiagnosis and overtreatment in cancer: An opportunity for improvement
Esserman L, et al. JAMA 2013 Jul 29
Heritable genetic changes in the open
Nature Methods 10,683(2013) Jul 30
Doorway to a cure for cystic fibrosis, by Bijal P. Trivedi, Discover Magazine
How exercise changes fat and muscle cells, The New York Times, Jul 31
Biological domains and big data, by Alice Rathjen, slideset, Jul 30
Microbiome research goes without a home, Nature News, Jul 30
You have no genotype, and you have no phenotype, either! Mermaid Tale blog, Jul 30
What is 'your' genotype? There's no answer because you have millions of them! Mermaid Tale blog, Jul 29
The disconnect between classical biostatistics and the biological data mining community.
Malley JD, Moore JH. BioData Min. 2013 Jul 24;6(1):12.
The National Coalition for Health Professional Education in Genetics (NCHPEG) closes, by Jeannine Mjoseth, NHGRI, Jul 26
Videos from Genome Canada Conference: The power and the promise of genomics videos are now available.
Tools and Databases
The BioResource for rare diseases, National Institute for Health Research
Progress in UK-wide rare disease genomics initiative, by Dr Leila Luheshi, PHG Foundation, Jul 29
UKGTN - promoting gene testing, NHS, UK Genetic Network
CDC authors are indicated in bold
A systematic review of cancer GWAS and candidate gene meta-analyses reveals limited overlap but similar effect sizes.
Chang CQ, Yesupriya A, Rowell JL, Pimentel CB, Clyne M, Gwinn M, Khoury MJ, Wulf A, Schully SD. Eur J Hum Genet. 2013 Jul 24.
Viral Hepatitis C gets personal - The value of human genomics to public health
Zhang L, Gwinn M, Hu D. Public Health Genomics 16(4) 2013
The Update includes genomics and health impact news and publications, CDC announcements, reports, blogs, podcasts, and other products. The Update features genomic tests, family history, programs and practice, policy and legislation and public health science. To receive the update electronically every week sign-up here.
Send Web sites that you would like to see included in a future update to email@example.com
Sign-up for new Genomics and Health Impact Updates through GovDelivery.
You may return to GovDelivery to edit preferences.
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.
Get email updates
To receive the impact update electronically every week, enter your email address: