Genomics & Health Impact Update
Volume 30 Number 17 April 25 -May 2, 2013
Human Genome Project 10th Anniversary: What is the Role of Public Health?
- CDC information: April 25 is National DNA Day: Celebrate the 10th anniversary of the completion of the Human Genome Project
- Government's role in protecting health and safety- One key role for public health action: ensure free & open information to empower people to make informed choices
Thomas R. Frieden, New England Journal of Medicine Apr 17, 2013
- Key role for public health action: ensure open and credible genomic information to empower people to make informed choices- CDC Public health genomics 2013 At-a-Glance
- CDC information: What public health can do now to save lives using genomics
- Genetic Alliance video: Cascade genetic screening & public health practice: An idea whose time has come
- CDC and Emory University course: Translational Research in Genomic Medicine, Emory University, Atlanta, Georgia, August 15-16, 2013
A 2-day multi-disciplinary course on establishing the validity and utility of genomic applications in clinical medicine and disease prevention.
- Excessive alcohol consumption kills thousands annually. Learn more
- CDC alcohol information: Frequently asked questions
- CDC information: Alcohol and pregnancy: Why take the risk?
- Mayo Clinic alcoholism risk factors: The risk of alcoholism is higher for people who have a parent or other close relatives who have problems with alcohol
- HuGE Navigator: includes more than 2700 scientific articles on genetic factors associated with alcohol use and adverse health effects, including 63 genomewide association studies. The most commonly studied genes are ALDH2 ADH1B and ADH1C
- An online continuously updated, curated database of epidemiologic studies of human genetic variation in relation to human diseases. As of April 10, the database exceeded 80,000 articles. Search the HuGE Navigator by disease, gene, type of study (GWAS, candidate genes, meta analysis), exposure, year, author and much more
- CDC article: A navigator for human genome epidemiology.
Yu Wei al, Nat Genet 2008
- CDC article: Genetic Epidemiology with a capital E: Ten Years After.
Khoury MJ. et al. Genet epidemiol 2011
Poliomyelitis and Genetic Primary Immune Deficiencies
- CDC information: A polio-free U.S. thanks to vaccine efforts
- CDC blog post: What’s the connection between polio eradication and primary immunodeficiency? A public health role for human genetics. By Marta Gwinn
- National primary immunodeficiency resource, Jeffrey Modell Foundation
- National Institute of Allergy and Infectious Diseases, NIH. Primary Immune Deficiency Diseases.
Sudden Cardiac Death of the Young
- Sudden cardiac death of the young: surveillance and prevention project, Michigan Department of Community Health
- Screening NCAA athletes for sudden cardiac death risk, Science Daily, Apr 19
- Too young to die - An update on the impact of sudden cardiac death of the young in Michigan 1999 - 2011 [PDF 827.69 KB]
- CDC blog post: Can sudden cardiac death of the young be prevented?
- HuGE Navigator: 101 genes have been reported with risk of sudden cardiac death including 5 genomewide association studies. The most common reported genes are SCN5, KCNH2 and KCNQ1.
- Promising therapy for cystic fibrosis: Phase 2 study of Kalydeco and VX-661 in combination shows promising results, Cystic Fibrosis Foundation, Apr 18
- CDC facts about cystic fibrosis [PDF 298.67 KB]
- What you need to know about cystic fibrosis, Cystic Fibrosis Foundation
- I manage cystic fibrosis by singing: one woman's inspirational story
- Cystic fibrosis is one of the core genetic conditions included in the recommended universal newborn screening panel.
- Newborn screening saves a future NBA star, Association for Public Health Laboratories, Apr 18
- Diabetes screening & diagnosis in patients with cystic fibrosis, from the CF Foundation
- NIH Symposium: The Genomics Landscape a Decade after the Human Genome Project, April 25, 2013
- GET Conference: Genomics, Environments & Traits, Boston, MA, April 25-26, 2013
Celebrating the 60th anniversary of the discovery of the DNA double helix
- 2013 Joint Meeting of the Newborn Screening and Genetic Testing Symposium and the International Society for Neonatal Screening, Atlanta, Georgia, May 5-10, 2013
- Big Data in BioMedicine Conference, Stanford University, Palo Alto, California, May 22-24, 2013
- Third National Conference on Genetics, Ethics and the Law, University of Virginia, Charlottesville, Virginia, May 22-23, 2013
- 4th Annual Beyond the Genome Conference, San Francisco, California, October 1-3, 2013
Can we test for hereditary cancer at 18 years when we start surveillance at 25? Patient reported outcomes
Sie AS, et al. Fam Cancer 2013 Apr
Clinical genomics information management software linking cancer genome sequence and clinical decisions
Watt S, et al. Genomics 2013 Apr
- Colorectal cancer: Update on the clinical management of Lynch syndrome
Henry T. Lynch & Patrick M. Lynch. Nature Reviews Gastroenterology and Hepatology, Apr 23
- Existing and emerging technologies for tumor genomic profiling.
Laura E. MacConaill. Journal Clinical Oncology 2013, Apr 15
Genetic markers associated with early cancer-specific mortality following prostatectomy.
Liu W, et al. Cancer Apr 22
- Implementation of routine screening for Lynch syndrome in university and safety-net health system settings: successes and challenges.
Evelyn Marquez et al. Genetics in Medicine, Apr 18
- The knowledge of colorectal cancer symptoms and risk factors among 10,078 screening participants: Are high risk individuals more knowledgeable?
Martin C. S. Wong et al. PloS One Apr 2013
- Screening participation predictors for people at familial risk of colorectal cancer: A systematic review.
Aiit Ouakrim D, et al. Am J Prev Med. 2013 May;44(5):496-506.
Genomics in Practice
Attitudes of African Americans toward return of results from exome and whole genome sequencing
Yu JH, et al. Am J Med Genet A 2013 May;161(5):1064-72
Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy
Jodie Ingles et al. Genetics in Medicine, Apr 18
Development of genetic counseling services in Taiwan
Chien S, et al. J Genet Couns 2013 Apr
"Information is Information": A public perspective on incidental findings in clinical and research genome-based testing
Daack-Hirsch S, et al. Clin Genet 2013 Apr
- Insurance coverage of medical foods for treatment of inherited metabolic disorders.
Susan A. Berry. Genetics in Medicine, Apr 18
Management of incidental findings in clinical genomic sequencing
Krier JB & Green RC Curr Protoc Hum Genet 2013 Apr;Chapter 9:Unit9.23
Perceptions of genetic counseling services in direct-to-consumer personal genomic testing
Darst BF, et al. Clin Genet 2013 Apr
Practices and policies of clinical exome sequencing providers: analysis and implications
Jamal SM, et al. Am J Med Genet A 2013 May;161(5):935-50
Guidelines and Recommendations
- Clinical pharmacogenetics implementation consortium guideline for CYP2D6 and CYP2C19 genotypes and dosing of tricyclic antidepressants
J K Hicks, J J Swen, C F Thorn, et al.Clinical Pharmacology & Therapeutics (2013); 93 5, 402–408.
- Clinical implementation of pharmacogenetics: More than one gene at a time
JA Johnson, T E Klein and M V Relling Clinical Pharmacology & Therapeutics (2013); 93 5, 384–385.
- Clinical implementation of pharmacogenetics: More than one gene at a time
Public Health Sciences
Consulting the community: public expectations and attitudes about genetics research
Etchegary H, et al. Eur J Hum Genet 2013 Apr
Feasibility of a microarray-based point-of-care CYP2C19 genotyping test for predicting clopidogrel on-treatment platelet reactivity
Chae H, et al. Biomed Res Int 2013;2013:154073
- Magnetic barcode assay for genetic detection of pathogens
Monty Liong et al. Nature Communications, April 23
Reviews and Commentaries on Science & Technology
- Network news: Powering clinical research
Joseph V. Selby et al. Science Translational Medicine Apr 23
- The black box of you: Why the quantified self is so frustrating today. Grohol JM, e-patients.net Apr 22
- Genetics in social media: Curated sites and information by Webicina
- Video: The optimistic reality of personalized medicine. Sage Bionetworks
- Is genetic sequencing a scientific crutch? By Jeffrey Marlow, Wired, Apr 19
- Rare cancer successes spawn ‘exceptional’ research efforts
Jocelyn Kaiser, Science, Apr 19
- Genome research creating data that's too big for IT, by Paul McCloskey, GCN, Apr 18
- Raising standards. Nature journals' updated editorial policies aim to improve transparency and reproducibility
Nature Immunology 14,415 2013 Apr 18
- Electronic health records spur fundamental changes in medicine, but questions persist about overall effectiveness By James Arvantes, AAFP News Now, Apr 17
- Why we’re motivated to exercise. Or not. By Gretchen Reynolds, New York Times, Apr 17
- Interpreting infective microbiota: the importance of an ecological perspective.
Rogers GB, et al. Trends Microbiol. 2013 Apr 15.
CDC authors are indicated in bold
Are randomized trials obsolete or more important than ever in the genomic era?
John PA Ioannidis and Muin J Khoury Genome Medicine 2013, 5:32 Apr 18
Cancer prevention for the next generation
Mary C. White, Lucy A. Peipins, Meg Watson, Katrina F. Trivers, Dawn M. Holman, , Juan L. Rodriguez Journal Adolescent Health, May 2013
Is there evidence of the new variant Chlamydia trachomatis in the United States?
Won H, Ramachandran P, Steece R, Van Der Pol B, Moncada J, Schachter J, Gaydos C. Sex Transm Dis. 2013 May;40(5):352-3
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