Genomics & Health Impact Update
Volume 30 Number 22 May 30 - June 6, 2013
Evidence Matters in Genomic Medicine
- New CDC blog post: New products from the EGAPP working group: further development of evidence review methodology and more recommendations in genomic medicine
- What is EGAPP? An evidence-based evaluation of genomic tests in medicine and public health
- A CDC tiered approach to the classification of evidence on genomic tests in transition from research to practice
- Personalized medicine vs guideline-based medicine
Goldberger JJ, Buxton AE, JAMA May 27
- CDC blog post: Genomes at CDC: Man, mouse, and microbe—it's a genomic world!
- CDC 2013 publications in genomics
- CDC 2012 publications in genomics
- CDC new initiative: Advanced Molecular Detection (AMD) and response to infectious disease outbreaks
- CDC video: Director's briefing: Advanced-molecular detection
- Did you know? Human genes have been associated with almost all diseases, including diseases with infectious and environmental causes, diseases of children and adult-onset chronic diseases. Search the HuGE Navigator for additional information on genes, diseases, infectious agents and environmental factors
World No Tobacco Day
- CDC information: Annual awareness day sponsored by the World Health Organization-let’s protect youth from tobacco marketing
- CDC information: Tips from former smokers 2013 campaign
- When you smoke, you aren't just harming yourself. Quit for someone else-tips from previous smoker
- If you have a family history of smoking-related conditions, you are at increased risk of these conditions if you smoke-quit now
- Smokescreen: Genetics and smoking: CDC blog post But my great aunt smoked every day and lived to be 100.
Genes, Environment and Causes of Human Disease
- A blog post series from the Mermaid Tale Blog
- CDC blog post: Shall we have pie or stew? Understanding genetic and environmental causes of human disease?
- CDC article: Why we need genomic research for the prevention of common diseases with environmental causes? Am J Epidemiology
- Should we sequence everyone's genome? No.
Frances Flinter BMJ 2013;346:f3132
- Should we sequence everyone's genome? Yes.
John Burn BMJ 2013;346:f3133
- Commentary: We screen newborns, don't we? Realizing the promise of public health genomics. James P. Evans et al. Genetics in Medicine, Mar 7
- Genomic screening for improved public health, [PDF 333.56 KB] ACMG, Mar 7
- A proposal to assess feasibility of genomic screening to detect preventable rare diseases in healthy people. Science Daily, Mar 7
- CDC paper: How can polygenic inheritance be used in population screening for common diseases?
Muin J. Khoury et al. Genetics in Medicine, 2013
- CDC blog post: Deploying the whole genome sequence into clinical and public health practice: one base pair at a time
Skin Cancer Awareness
- CDC feature: Skin cancer awareness: Protect your skin
- CDC information: People who have a close relative (parent, sibling, or child) with a specific type of skin cancer called melanoma may be at greater risk of developing the disease than the general population
- NCI information: Skin cancer risk factors include inherited disorders, such as xeroderma pigmentosum or nevoid basal cell carcinoma syndrome, that make the skin more sensitive to the sun and increases the risk of skin cancer
- NCI Physician Desk Queries (PDQs): Genetics of skin cancer
High Blood Pressure
- CDC Grand Round: public health and clinical approaches to better identify, treat, and control high blood pressure
- World Health Organization: Silent killer, global public health crisis
- CDC information: Learn about high blood pressure
- MMWR article: Self-reported hypertension and use of antihypertensive medications among adults, United States, 2005-2009. Apr 5, 2013
- Risk factors for high blood pressure include family history. [PDF 94.84 KB] Collect and act on your family history to cut your own risk from high blood pressure
- Did you know: 1522 genes have been reported with hypertension, including 70 genomewide association studies.
National Stroke Awareness
- CDC information: It's a good time to make sure you know how to avoid a stroke, how to recognize when it happens, and what to do
- CDC stroke information: Stroke is a leading cause of death in the United States.
- CDC stroke information: Genomics and family history family health history is an important tool for identifying people at increased risk for stroke
- Did you know? 921 genes have been reported in relation to risk of stroke, including 53 genomewide association studies. To find out more, visit the HuGENavigator
- 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. Register now
A decision impact, decision conflict and economic assessment of routine Oncotype DX testing of 146 women with node-negative or pNImi, ER-positive breast cancer in the UK
Holt S, et al. Br J Cancer 2013 May
Contralateral breast cancer after radiotherapy among BRCA1 and BRCA2 mutation carriers: A WECARE study report
Bernstein JL, et al. Eur J Cancer 2013 May
Keeping it simple: Genetics referrals for all invasive serous ovarian cancers
Demsky R, et al. Gynecol Oncol 2013 May
Lineage relationship of gleason patterns in Gleason score 7 prostate cancer.
Kovtun IV, Cheville JC, Murphy SJ, et al. Cancer Res. 2013 May 21.
- Aggressive prostate cancer tumors share the same genetic origins, Medical News Today, May 27
NHS pilots new genetic testing service for cancer patients
Chinthapalli K BMJ 2013;346:f3323
Prevalence and predictors of cancer specific distress in men with a family history of prostate cancer
McDowell ME, et al. Psychooncology 2013 May
- Risk of pancreatic cancer in breast cancer families from the breast cancer family registry.
Mocci E et al. Cancer Epidemiol Biomarkers Prev. 2013 May;22(5):803-11.
Screening participation for people at increased risk of colorectal cancer due to family history: a systematic review and meta-analysis
Ait Ouakrim D, et al. Fam Cancer 2013 May
- "The Angelina Effect"; Actress doesn't regret double mastectomy; "I feel empowered, supported in cancer fight", CNN, May 18
Ethics, Policy and Law
Growing use of genomic data reveals need to improve consent and privacy standards
Kuehn BM JAMA 2013 May;309(20):2083-4
Homocysteine and metabolic risk factors in individuals with family history of premature ischemic stroke
Mierzecki A, et al. Pol Arch Med Wewn 2013 May
Population-based, multigenerational family clustering study of obsessive-compulsive disorder
Mataix-Cols D, et al. JAMA Psychiatry 2013 May:1-9
Genomics in Practice
- Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders.
C. Sue Richards et al. Genetics in Medicine May 23
- Genetic testing insurance coverage trends: A review of publicly available policies from the largest US payers
Michael D Graf, Denise F Needham, Nicole Teed, et al. Personalized Medicine. 2013;10(3):235-243.
Survey of European clinical geneticists on awareness, experiences and attitudes towards direct-to-consumer genetic testing
Howard HC & Borry P Genome Med 2013 May;5(5):45
FDA approves companion diagnostic from Genentech for advanced skin cancer, Clinical Lab Products, May 29
Guidelines and Recommendations
Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for cytochrome P450-2C19 (CYP2C19) genotype and clopidogrel therapy: 2013 Update
Scott SA, et al. Clin Pharmacol Ther 2013 May
Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for HLA-B genotype and carbamazepine dosing
Leckband SG, et al. Clin Pharmacol Ther 2013 May
Newborn screening for cystic fibrosis in Switzerland - Consequences after analysis of a 4 months pilot study
Torresani T, et al. J Cyst Fibros 2013 May
Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin
Van Calcar SC, et al. Mol Genet Metab 2013 Apr
Web-based newborn screening system for metabolic diseases: machine learning versus clinicians
Chen WH, et al. J Med Internet Res 2013;15(5):e98
SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy
Samango-Sprouse C, et al. Prenat Diagn 2013 May
Public Health Sciences
Gut metagenome in European women with normal, impaired and diabetic glucose control
Karlsson F, Tremaroli V, Nookaew I, et al. Nature 2013 May 29
Incidental findings from clinical genome-wide sequencing: A review
Lohn Z, et al. J Genet Couns 2013 May
The power of meta-analysis in genome-wide association studies
Orestis A. Panagiotou, Cristen J. Willer, Joel N. Hirschhorn, and John P.A. Ioannidis Annu. Rev. Genomics Hum. Genet. 2013. 14:7.1–7.25
The value of genetic information for diabetes risk prediction - differences according to sex, age, family history and obesity
Muhlenbruch K, et al. PLoS One 2013;8(5):e64307
Will gene sequencing fundamentally change understanding of childhood disorders, by Nick Collins, The Telegraph May 27
Reviews and Commentaries on Science & Technology
- The case of a cohort
Nature Genetics 45, 579 (2013) May 29
- Collaborations: The fourth age of research
Jonathan Adams Nature 497, 557-560 2013 May 29
- Genomics: A gut prediction
Willem M. de Vos and Max Nieuwdorp Nature 2013 May 29
- Medicine and the media: Angelina Jolie's double mastectomy and the question of who owns our genes.
BMJ 2013;346:f3340 (May 23)
- Early stem cell trial for stroke may show promise, by Dr Philippa Brice, PHG Foundation, May 27
- FDA will soon issue guidance on co-development of drugs and diagnostics, Oncology Times, May 28
- FDA rethinking personalized drug trials, by David Pittman, Washington Correspondent, MedPage Today, May 22
- Stanford University students study their own DNA, by Lisa M. Krieger, Mercury News, May 24
- McKinsey: The $33 Trillion technology payoff. A gallery of disruptive technologies, by S Lohr, New York Times, May 22
- When DNA screenings lead to devastating mistakes, by Cheryl Platzman Weinstock, Huffintgon Post, May 23
Tools and Databases
Clinical genomic database
Solomon BD, et al. Proc Natl Acad Sci U S A 2013 May
- Genetics Generation - Education is our motivation
New educational resource prepares clinicians for genomic medicine, Genetic Alliance, May 22
CDC authors are indicated in bold
Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing
Kalman L, Tarleton J, Hitch M, Hegde M, Hjelm N, Berry-Kravis E, Zhou L, Hilbert JE, Luebbe EA, Moxley RT, Toji L. J Mol Diagn. 2013 May 13.
The use of US health insurance data for surveillance of rare disorders: hereditary hemorrhagic telangiectasia
Scott D. Grosse, Sheree L. Boulet, Althea M. Grant, Mary M. Hulihan & Marie E. Faughnan Genetics in Medicine 2013 May 23
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