Genomics & Health Impact Update
Volume 30 Number 20 May 16-23, 2013
National Women's Health Week: Breast Cancer, Genomics and Family History
- CDC feature: National Women’s Health Week 2013- an annual observance to encourage you to make your health a priority. Take simple steps for a safer and healthier life
- CDC information: Breast and ovarian cancer and family health history
- CDC information: Genetic testing for breast and ovarian cancer
- CDC fact sheet: Implementing evidence-based genomic tests and family health history [PDF 1.04 MB]
- My medical choice: My mother fought cancer for almost a decade and died at 56, The New York Times, May 14
Jolie's double mastectomy shines light on preventing cancer, NPR News May 15
To keep pace with emerging public health challenges and to address the leading causes of death and disability, CDC initiated an effort to achieve measurable impact in a few targeted areas or “winnable battles”. To find out more click here and check out trend data & 2015 targets
Health-care Associated Infections
- Healthcare-associated infections are down; virtually all hospitals in US now using CDC's National Network
- Personalized microbial epidemiology: Outsmarting outbreaks with whole genome sequencing, Science, Nov 30, 2012
- Youth smoking is down, but more work is needed to decrease adult smoking
- CDC TIPS is helping smokers quit
- If you have a family history of smoking-related conditions, you are at increased risk of these conditions if you smoke-quit now
- "But my great aunt smoked every day and lived to be 100”. Genetics will not protect you from the harsh reality of smoking-quit now, CDC blog post (2012)
- Genetic risk and the developmental progression to heavy, persistent smoking and nicotine dependence: a longitudinal study.
Daniel W. Belsky, Terrie E. Moffitt, Timothy B. Baker, et al. JAMA Psychiatry 2013;70(5):534-542.
- Biomarkers for smoking cessation: A review.
Bough KJ, Lerman C, Rose JE, et al. Clin Pharmacol Ther. 2013 Mar 18.
- We still have work to do in improving food safety.
- CDC Advanced Molecular Detection initiative will help detect & respond to outbreaks faster
- Genomics and outbreak investigation: from sequence to consequence.
Esther R Robinson, Timothy M Walker and Mark J Pallen Genome Medicine 2013, 5:36
- Childhood obesity declining in some areas, breastfeeding increasing in US - signs of progress.
- Behavior, environment, and genetic factors all have a role in causing people to be overweight and obese
- Nutrigenomics and personalized diets: What will they mean for food?
German JB, Zivkovic AM, Dallas DC, et al. Annu Rev Food Sci Technol. 2011;2:97-123.
- Trends in new HIV infections are concerning, but more people tested for HIV & entering treatment
- The future of genomics in HIV medicine: Presentations and slides from the AIDS 2012 conference
- Landmarks of the HIV genome
- HLA-B*5701 testing to predict abacavir hypersensitivity in HIV treatment
Joseph D. Ma, Kelly C. Lee, and Grace M. Kuo PLoS Currents Evidence on Genomic Tests.
- New paper: Comparative effectiveness research in cancer genomics and precision medicine: Current landscape and future prospects
Naoko I. Simonds, et al. JNCI, May 9
- Building the evidence base for decision making in cancer genomic medicine using comparative effectiveness research
Goddard KA, et al. Genet Med 2012 Apr.
- Stakeholder assessment of the evidence for cancer genomic tests: insights from three case studies.
Deverka PA, et al. Genet Med. 2012 Apr 5.
- Realizing the opportunities of genomics in health care.
Ginsburg GS. JAMA. 2013 Apr 10;309(14):1463-4
- Comparative effectiveness research, genomics-enabled personalized medicine, and rapid learning health care: a common bond.
Ginsburg GS, Kuderer NM. J Clin Oncol. 2012 Dec 1;30(34):4233-42.
May is Cystic Fibrosis Awareness Month
- Cystic Fibrosis Awareness ToolKit, Cystic Fibrosis Foundation
- CDC facts: What is cystic fibrosis? [PDF 298.67 KB]
- Cystic fibrosis is included in the universal panel for newborn screening in the United States. Find out more about cystic fibrosis.
May is Hepatitis Awareness Month
- CDC Vital Signs: Hepatitis C- testing baby boomers saves lives
- CDC Information: About 3 million Americans have hepatitis C, most were born from 1945-1965. If you were born during these years, talk to your doctor about getting tested.
- An FDA-approved hepatitis C RNA test should be used to identify active hepatitis C infection among persons who test anti-HCV positive
Skin Cancer Awareness
- CDC information: Risk factors for skin cancer include UV exposure & history of sunburn
- 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
May is Ehlers-Danlos Syndrome (EDS) Awareness Month
- Several states including Oklahoma [PDF 178.82 KB] and Oregon [PDF 107.87 KB] have declared May 2013 Ehlers-Danlos Syndrome (EDS) Awareness Month
- From the Mayo Clinic: Ehlers-Danlos syndrome is a group of inherited disorders that affect connective tissues — primarily your skin, joints and blood vessel walls
- What is EDS? From the NIH Genetics Home Reference
- Risk factors for aortic aneurysm include family history and certain genetic diseases like Marfan syndrome and EDS [PDF 335.58 KB]
- 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
- National Human Genome Research Institute: Genomic medicine pilot demonstration projects
Communicating risk of hereditary breast and ovarian cancer with an interactive decision support tool
Rupert DJ, et al. Patient Educ Couns 2013 May
Cost-effectiveness of BRCA1 and BRCA2 mutation testing to target PARP inhibitor use in platinum-sensitive recurrent ovarian cancer
Secord AA, et al. Int J Gynecol Cancer 2013 May
Current Lynch syndrome tumor screening practices: A survey of genetic counselors.
Cohen SA.. J Genet Couns. 2013 May 15.
Familial risk of childhood cancer and tumors in the Li-Fraumeni spectrum in the Utah population database: Implications for genetic evaluation in pediatric practice
Curtin K, et al. Int J Cancer 2013 May
Family communication of BRCA1/2 results and family uptake of BRCA1/2 testing in a diverse population of BRCA1/2 carriers
Fehniger J, et al. J Genet Couns 2013 May
A Novel Fully Automated Molecular Diagnostic System (AMDS) for colorectal cancer mutation detection
Kitano S, et al. PLoS One 2013;8(5):e62989
Uptake of genetic testing by relatives of Lynch syndrome Probands: a systematic review
Sharaf RN, et al. Clin Gastroenterol Hepatol 2013 May
Ethics, Policy and Law
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
- U.S. Equal Employment Opportunity Commission: Federal agency files first suit enforcing genetic discrimination law against fabric distributor that requested family medical history, refused to hire woman, May 7
- Your genes, your choice? Critics say the American College of Medical Genetics and Genomics’ recent recommendations for reporting incidental clinical sequencing results undermine patient autonomy, Genetic Engineering & Biotech News, May 9
- Personal Genome Project participants often identifiable, by Simon Leese, PHG Foundation, May 10
- Public preferences regarding informed consent models for participation in population-based genomic research [PDF 408.35 KB]
Platt J et al. Genetics in Medicine May 9
- Professional societies state concerns, recommendations for interim pricing on molecular tests, Clinical Lab Products, May 10
- Privacy protections: The genome hacker Yaniv Erlich shows how research participants can be identified from 'anonymous' DNA, Erika Check Hayden Nature 2013 May 8
Addition of a novel, protective family history category allows better profiling of cardiovascular risk and atherosclerotic burden in the general population. The asklepios study
Van Daele CM, et al. PLoS One 2013;8(5):e63185
Synergistic effects of family history of hepatocellular carcinoma and hepatitis B virus infection on risk for incident hepatocellular carcinoma
Loomba R, et al. Clin Gastroenterol Hepatol 2013 May
Clinical utility gene card for: Johanson-Blizzard syndrome
Sukalo M, et al. Eur J Hum Genet 2013 May
Predictive gene testing for Huntington's dsease and other neurodegenerative disorders
Wedderburn S, et al. Intern Med J 2013 May
Guidelines and Recommendations
Guideline recommendations for EGFR mutation testing in lung cancer: Proposal of the Korean cardiopulmonary pathology study group
Shim HS, et al. Korean J Pathol 2013 Apr;47(2):100-6
Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing
Allyse M, Michie M. Trends Biotechnol. 2013 May 3.
- Patients should have right to control genomic health information, Medical Xpress, May 9
A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document
Cornel MC, et al. Eur J Hum Genet 2013 May
Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform
Sista RS, et al. Clin Chim Acta 2013 May
Public Health Sciences
Funding considerations for the disclosure of genetic incidental findings in biobank research
Black L, et al. Clin Genet 2013 May
Public preferences regarding informed consent models for participation in population-based genomic research
Platt J, et al. Genet Med 2013 May
Worldwide policies on haemochromatosis and blood donation: a survey among blood services
Pauwels NS, et al. Vox Sang 2013 May
Reviews and Commentaries on Science & Technology
- Meta-analysis methods for genome-wide association studies and beyond
Evangelos Evangelou & John P. A. Ioannidis Nat Rev Genetics May 9
- Fishing for answers in human disease, by Dr. Francis Collins, NIH Blog, May 9
- Genetics of bipolar disorder
Nick Craddock and Pamela Sklar, Lancet May 10
- A cautionary tale on genome-sequencing diagnostics for rare diseases, Science Daily, May 10
- Be warned, bacteria: We’re putting you to work, By Scott Kirsner, Boston Globe, May 12
- Quantifying diet for nutrigenomic studies.
Katherine L. Tucker et al. Annual Review of Nutrition. April 29
- Hand-held probe could isolate human DNA in 2-3 minutes, PHG Foundation, May 13
- Big data needs a big theory to go with it, West G, Scientific American, May 9
- Large scale genetics of human gene expression studies turn to next-gen sequencing, Next Gen Seek, May 14
CDC authors are indicated in bold
Comparative effectiveness research in cancer genomics and precision medicine: Current landscape and future prospects
Naoko I. Simonds, Muin J. Khoury, Sheri D. Schully, Katrina Armstrong, Wendy F. Cohn, David A. Fenstermacher, Geoffrey S. Ginsburg, Katrina A.B. Goddard, William A. Knaus, Gary H. Lyman, Scott D. Ramsey, Jianfeng Xu and Andrew N. Freedman, JNCI, May 9
Association of the Period3 clock gene length polymorphism with salivary cortisol secretion among police officers
Wirth M, Burch J, Violanti J, Burchfiel C, Fekedulegn D, Andrew M, Zhang H, Miller DB, Youngstedt SD, Hebert JR, Vena JE. Neuro Endocrinol Lett. 2013 ;34(1):27-37.
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