Genomics & Health Impact Update
Volume 30 Number 19 May 9-16, 2013
Winnable Battles in Public Health: Emerging Role of Genomics
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.
- 2013 Joint Meeting of the Newborn Screening and Genetic Testing Symposium and the International Society for Neonatal Screening: 50 Years of newborn screening- celebrating the past and preparing for the future, Atlanta, GA May 5–10, 2013
- Association for Public Health Laboratories: The newborn screening story: how one simple test changed lives, science & health in America [PDF 25.50 MB]
- Association for Public Health Laboratories: What is newborn screening? Find the facts: Testing that can save a baby's life
- Newborn screening: One of public health’s greatest achievements celebrates 50 years and thousands of lives saved, The Pump Handle Post by Kim Krisberg, May 3
- National Academy of Sciences Report: Toward precision medicine: building a knowledge network for biomedical research and a new taxonomy of disease
- OME 2013 Conference: NIH and FDA officials join UCSF chancellor to talk precision medicine
- OME 2013 yields pilot proposals to advance precision medicine- Two-day summit brought top minds together to tackle implementation challenges
- Preparing for precision medicine
Reza Mirnezami et al N Engl J Med 2012; 366:489-491
- CDC Blog: The public health approach to genetic testing in the 21st century: Saving lives and saving unnecessary healthcare costs
- CDC Paper: A population perspective to precision medicine.
Khoury MJ, Gwinn ML, Glasgow RE, et al. Am J Prev Med 2012 Jun;42(6):639-45.
- PHG Foundation 15th anniversary video: Public health perspective more important than ever
National Nurses Week: Integrating Genomics into Nursing Practice
- HHS Secretary Kathleen Sebelius on National Nurses Week (May 6): Every day, nurses provide leadership, innovation and advocacy to meet the health care needs of Americans
- Journal of Nursing Scholarship special issue articles on genomics and health care
- A blueprint for genomic nursing science
Calzone KA, et al. J Nurs Scholarsh 2013 Jan
- Implications of newborn screening for nurses
Deluca J, et al. J Nurs Scholarsh 2013 Jan
- Survey of nursing integration of genomics into nursing practice
Calzone KA, et al. J Nurs Scholarsh 2012 Dec;44(4):428-36
- Why nurses are getting genomics training? C Rizk, New York Genome Center, Apr 3
May is Mental Health Month
- National Institute for Mental Health: May is Mental Health Awareness Month. Find the help you or a loved one needs with mental illness today
- Suicide among adults aged 35–64 years — United States, 1999–2010. MMWR May 3, 2013 / 62(17);321-325
- CDC Information on suicide prevention: Suicide is a serious public health problem that can have lasting harmful effects on individuals, families, and communities
- Community Guide recommendations: Improving mental health and addressing mental illness
- CDC information: Risk factors for suicide include family history of suicide
- Did you know 189 genes have been studied in relation to suicide risk, including 9 genomewide association studies. To find out more, visit the HuGE Navigator
- US Preventive Services Task Force recommends that family history of depression be considered with other risk factors when screening adults for depression
May is Healthy Vision Month
- CDC feature: You should have a comprehensive dilated eye exam to check for common eye problems. Know your family’s eye health history. It’s important to know if anyone in your family has been diagnosed with an eye disease or condition, since many are hereditary.
- NIH encourages Americans to make vision a priority during Healthy Vision Month, Statement from National Eye Institute Director, May 1
- Recommendations for genetic testing of inherited eye diseases: Report of the American Academy of Ophthalmology Task Force on Genetic Testing
- American Academy of Ophthalmology recommends offering genetic testing to patients with clinical findings suggestive of a Mendelian disorder with identified gene(s)
- American Academy of Ophthalmology recommends against routine genetic testing for complex disorders like age-related macular degeneration
May is Asthma Awareness Month
- CDC information: Learn to control your asthma
- CDC asthma public health information
- NHLBI information: What causes asthma? Family history and genetic factors play a role
- Asthma and genomics from the Utah Department of Health, Chronic Disease Genomics Program
- Did you know that 1054 genes have been reported in relation to the risk of asthma including 61 genomewide association studies. To find out more, visit the HuGE Navigator
Amyotrophic Lateral Sclerosis (ALS)-Lou Gehrig's Disease Registry
- CDC information: The goal of the national ALS Registry is to gather information that can be used to estimate the number of new cases of ALS each year, better understand who gets ALS and what factors affect the disease; and improve care for people with this disease
- ALS Bioregistry
- NIH Genetics Home Reference: An estimated 5 to 10 percent of ALS cases are familial and caused by mutations in one of several genes
- Did you know that 170 genes have been reported with amyotrophic lateral sclerosis including 2 genomewide association studies?
- CDC information: International Thalassemia Day on May 8th. How much do you know about thalassemia? Take our quiz to find out
- 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
Agency for Healthcare Research and Quality: AHRQ Patient Centered Outcomes Research (PCOR) Institutional Mentored Career Development Program (K12)
Molecular diagnosis of endometrial cancer from uterine aspirates
Perez-Sanchez C, et al. Int J Cancer 2013 May
Prospective, multi-center randomized intermediate biomarker study of oral contraceptive vs. depo-provera for prevention of endometrial cancer in women with lynch syndrome
Lu KH, et al. Cancer Prev Res (Phila) 2013 May
Risk of metachronous breast cancer after BRCA mutation-associated ovarian cancer
Domchek SM, et al. Cancer 2013 Apr;119(7):1344-8
Underestimated survival predictions of the prognostic tools Adjuvant Online and PREDICT in BRCA1-associated breast cancer patients
Plakhins G, et al. Fam Cancer 2013 May
- Underutilization of Lynch syndrome screening in a multisite study of patients with colorectal cancer
Deanna S. Cross et al. Genetics in Medicine, May 2
- Genomic analysis of endometrial tumors, NIH Research Matters May 6
Ethics, Policy and Law
- Incidental variants are critical for genomics.
Biesecker LG. 2013 Am J Human Genetics, May 2
- Experiences and attitudes of genome investigators regarding return of individual genetic test results
Rachel B. Ramoni et al. Genetics in Medicine, May 2
Fabricut to pay $50,000 to settle EEOC disability and genetic information discrimination lawsuit, U.S. Equal Employment Opportunity Commission, May 7
- A very personal genome project: “as an integral part of the consent and enrollment process; neither anonymity nor confidentiality of participant identities or their data are promised to research participants.” by Madeleine Price Ball, May 2
- Endometrial cancer and a family history of cancer
Cook LS, et al. Gynecol Oncol 2013 Apr 27
The risk of type 2 diabetes in men is synergistically affected by parental history of diabetes and overweight
Wikner C, et al. PLoS One 2013;8(4):e61763
Genomics in Practice
Cost minimization of HLA-B*1502 screening before prescribing carbamazepine in Thailand
Tiamkao S, et al. Int J Clin Pharm 2013 May
Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan
Tanaka K, et al. J Hum Genet 2013 May
Pre-symptomatic genetic testing for inherited cardiac conditions: a qualitative exploration of psychosocial and ethical implications
Ormondroyd E, et al. Eur J Hum Genet 2013 May
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory
Lieve KV, et al. Genet Test Mol Biomarkers 2013 Apr
- Venous thromboembolism in adults with sickle cell disease: A serious and under-recognized complication.
Naik RP, et al Am J Med. 2013 May;126(5):443-9.
Guidelines and Recommendations
- American College of Medical Genetics and Genomics: Incidental findings in clinical genomics: A clarification, [PDF 234.43 KB] Apr 25
- ACMG issues clarification over incidental findings guidance, PHG Foundation, May 7
- Effectiveness guidance document: Evaluation of clinical validity and clinical utility of actionable molecular diagnostic tests in adult oncology, [PDF 1.80 MB] CMTP, May 1
- The Community Preventive Services Task Force recommends clinical decision-support systems for prevention of cardiovascular disease (CVD) based on sufficient evidence of effectiveness in improving screening for risk factors and practices for preventive services, tests and treatments.
Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. National Guideline Clearinghouse, May 6
Public Health Sciences
Identification of genetic loci associated with Helicobacter pylori serologic status
Julia Mayerle, JAMA May 8
- Population genomics of post-vaccine changes in pneumococcal epidemiology
Nicholas J Croucher et al. Nature Genetics 2013, May 5
Reviews and Commentaries on Science & Technology
- Establish good genomic practice to guide medicine forward
Richard W Barker et al. Nature Medicine. May 7
- News from the front in war on cancer--Mission not accomplished -genetic sequencing has dumped a mountain of data into researchers' laps, but it hasn't yielded a silver bullet to cure cancer, by Marissa Fessenden, Scientific American, May 2
- DNA testing chip delivers results in one hour, paves way for personalized drug treatments, by Don Kennedy and Ryo Osuga, DIGINFO TV, Apr 4
- Prognostic models: Rising to the challenge.
Nicola McCarthy Nature Reviews Cancer, 3 May 2013
- Gene expression: Colorectal cancer classifications.
Darren J. Burgess Nature Reviews Cancer, 3 May 2013
- “Relax: It is good for your genes” by Maia Szalavitz, Time, May 3
- Pattern recognition in bioinformatics.
de Ridder D, de Ridder J, Reinders MJ. Brief Bioinform. 2013 Apr 4
- New cost-effective genome assembly process, Science Daily, May 5
Nothing about us without us: guidelines for genetic testing.
Terry SF, Bonhomme N. Genet Test Mol Biomarkers. 2013 May;17(5):357-8.
- Telomeres affect gene expression-as telomeres shorten with age, genes as far as 1,000 kilobases away could be affected, including one responsible for an inherited muscle disease. By Ed Yong, The Scientist, May 5
CDC authors are indicated in bold
Borrelia burgdorferi bba66 gene inactivation results in attenuated mouse infection by tick transmission
Patton TG, Brandt KS, Nolder C, Clifton DR, Carroll JA, Gilmore RD. Infect Immun. 2013 Apr 29.
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