Genomics & Health Impact Update
Published by the Office of Public Health Genomics (OPHG), the Update includes CDC announcements, publications, blogs and other products. The Update also includes links to genomics and health impact news and publications. The Update features genomic tests, family history, programs and practice, policy and legislation and public health science. To receive this update electronically every week sign-up here.
Thursday, March 14, 2013 Volume 30 Number 11
Whole Genome Sequencing for All?
- New commentary: We screen newborns, don’t we? Realizing the promise of public health genomics. James P. Evans et al. Genetics in Medicine, 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, online
- CDC paper: Public health action in genomics is now needed beyond newborn screening.
Bowen S et al. Public Health Genomics 2012
- CDC blog post: Deploying the whole genome sequence into clinical and public health practice: one base pair at a time
Researchers explore genetic testing to identify people at high risk for preventable disease, News-Medical.Net, Mar 8
- Should healthy people get their genomes sequenced? By Eliza Strickland, Discover, Mar 8
- CDC feature: Colorectal cancer screening saves lives.
- CDC feature: Genetic testing for hereditary colorectal cancer
- CDC information: Family history is an important risk factor for colorectal cancer
- CDC podcast on cascade screening for Lynch syndrome on all newly diagnosed cases of colorectal cancer
- Lynch Syndrome Screening Network: Mission is to reduce the burden of colorectal cancer and other cancers associated with Lynch Syndrome
- CDC fact sheet: Implementing evidence-based genomic tests and family health history [PDF 1.04 MB]
- American Society for Clinical Oncology information: Do you know the importance of family history & genetic counseling as a tool to assess cancer risk? Learn more
- March is DVT Awareness Month
- CDC feature: How much do you know about deep vein thrombosis?
- CDC information: Risk factors for deep vein thrombosis include positive family history
- Did you know that 138 genes havc been reported in relation to risk of venous thrombosis including 7 genomewide association studies. The most common reported genes are F5, F2 and MTHFR. To find out more, visit the HuGE Navigator
- The EGAPP™ Working Group found adequate evidence to recommend against routine testing for F5 Leiden (FVL) and/or F2 20210G>A (PT) mutations
Diabetes Alert Day, March 26
- CDC feature: 'Our cultures are our source of health' Type 2 diabetes is a growing concern around the world. American Indian and Alaska Native adults are at high risk to have diagnosed diabetes-find out more
- CDC information: Does diabetes run in your family? Take steps towards better health
American Diabetes Association: Alert Day March 26! See Video
World Kidney Day March 14
- CDC feature: Diabetes, high blood pressure and family history of chronic kidney disease raise kidney disease risk
- Did you know that 1143 genes have been studied in relation to chronic kidney disease including 14 genomewide association studies. The most commonly reported genes are MTHFR, ACE and NOS3 Find out more by visiting the HuGENavigator
- Polycystic kidney disease: a genetic disorder characterized by the growth of numerous cysts in the kidneys- In the United States, about 600,000 people have PKD and is the fourth leading cause of kidney failure- Information from the National Kidney and Urologic Diseases Information Clearinghouse
Today is World Kidney Day. Listen to this podcast to learn the causes of kidney disease & how to prevent it.
National Kidney Disease Education Program: If you have kidney disease, tell your relatives to talk to their provider about getting tested for kidney disease
- CDC key findings: Tourette syndrome and parenting aggravation
- CDC information: What should you know about Tourette syndrome?
- NIH Genetics Home Reference: Tourette syndrome
Age-related Macular Degeneration
- CDC information: Vision loss as a public health problem
- It is estimated that 1.8 million Americans 40 years and older are affected by AMD
- NIH information: the genetics of age-related macular degeneration
- Did you know that 251 genes have been reported in relation to Macular Degeneration, including 22 genomewide association studies. The most commonly associated genes are CFH, & ARMS2
- NIH Genetics Home Reference: What is age-related macular degeneration?
- National Eye Institute: Age-related macular degeneration
Future of genomic medicine, La Jolla, California March 8-10
- Live coverage- By Gary Robbins, March 7, 2013
- A focus on patient's point of view at “genomics in medicine” meeting. New York Genome Center, March 7
- Future of genomic medicine: It is all about the data. New York Genome Center. March 8
- The search for what's wrong with Lilly. By Gary Robbins March 9, 2013
Analysis of circulating tumor DNA to monitor metastatic breast cancer
Sarah-Jane Dawson et al. New Engl J Med Mar 13
- Circulating tumor DNA — ready for prime time?
Marc Lippman, M.D., C. Kent Osborne, M.D. New England Journal of Medicine
- Blood test tracks cancer- Monitoring tumor DNA shows promise for following progress of disease.
Heidi Ledford Nature News, Mar 13
- Circulating tumor DNA — ready for prime time?
BRCA1 expression and improved survival in ovarian cancer patients treated with intraperitoneal cisplatin and paclitaxel: a gynecologic oncology group study
Lesnock JL, Darcy KM, Tian C, et al. Br J Cancer. 2013 Mar 5.
- Frequency of premature menopause in women who carry a BRCA1 or BRCA2 mutation.
Finch A, et al. Fertil Steril. 2013 Feb 13. pii: S0015-0282(13)00165-9
Prevalence of BRCA1 mutations in familial and sporadic Greek ovarian cancer cases.
Stavropoulou AV, Fostira F, Pertesi M, et al. (2013) PLoS ONE 8(3): e58182.
- The InSiGHT database: utilizing 100 years of insights into Lynch Syndrome.
Plazzer JP et al. Familial Cancer Feb 2013
The evolving role of multi-gene tests in breast cancer management.
By Rachel C. Jankowitz et al. Oncology, Mar 11
Variants of uncertain significance in BRCA1 and BRCA2 assessment of in silico analysis and a proposal for communication in genetic counselling
Setareh Moghadasi, Nandy Hofland, Joyce N Wouts, et al. J Med Genet. 2013;50(2):74-79.
Ethics & Law
- Breast cancer genetic testing gets covered by health care reform, By Rachael Rettner, MyHealthNewsDaily, Mar 6
- The policy of public health genomics in Italy.
Simone B, et al. Health Policy 2013 Mar 2.
- Intellectual property and development: beware the 'genome divide'. The Guardian, Mar 12
- Recording of family history is associated with colorectal cancer stage.
Lessels K, et al. Eur J Gastroenterol Hepatol. 2013 Apr;25(4):482-7.
Genomics in Practice
CFTR2: How will it help care?
Castellani C Paediatr Respir Rev 2013 Mar
Crossing the omic chasm: Integrating genomic data into electronic health records.
Justin Starren, MD, PhD; Marc S. Williams, MD; Erwin P. Bottinger, MD JAMA 2013;():1-2 Mar 14
Early diagnosis and treatment of familial hypercholesterolemia: improving patient outcomes
Alonso R, et al. Expert Rev Cardiovasc Ther 2013 Mar;11(3):327-42
Is the psychological impact of genetic testing moderated by support and sharing of test results to family and friends?
Lapointe J, et al. Fam Cancer 2013 Mar
Clinical utility gene card for: Diamond - Blackfan anemia - update 2013
Vlachos A, et al. Eur J Hum Genet 2013 Mar
Identification of infants at risk for developing Fabry, Pompe, or Mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry
Scott CR, et al. J Pediatr 2013 Mar
Newborn screening for hepatorenal tyrosinemia-I by tandem mass spectrometry using pooled samples: A four-year summary by the New England newborn screening program
Zytkovicz TH, et al. Clin Biochem 2013 Feb
- Severe combined immune deficiency newborn screening – status of implementation in the US by state map, Immune Deficiency Foundation Blog, Feb 2013
- Understanding the importance of one drop of blood, Stapley R, BabyFirst test blog post, Mar 7
- Beyond the clinic: 'direct-to-consumer' genomic profiling services and pharmacogenomics.
Praioknsack B, Vayena E. Pharmacogenomics. 2013 Mar;14(4):403-12
Mutational analysis clopidogrel resistance and platelet function in patients scheduled for coronary artery bypass grafting
Correll M, et al. Genomics 2013 Feb
Pharmacogenetics and pharmacogenomics: A bridge to individualized cancer therapy
Liming Weng, Li Zhang, Yan Peng, et al. Pharmacogenomics. 2013;14(3):15-24.
Pharmacogenetics of Risperidone: A systematic review of the clinical effects of CYP2D6 polymorphisms (March)
Cartwright AL, et al. Ann Pharmacother 2013 Mar
Public Health Sciences
- Likelihood ratios for genome medicine.
Morgan AA et al. Genome Medicine Mar 2013
- Distinguishing true from false positives in genomic studies: p values.
Broer L et al. Eur J Epidemiology Feb 2013
- Methodology and software for visualization of statistical epistasis networks.
Hu T, Chen Y, Kiralis JW, Moore JH. Genetic Epi Mar 2013
Towards a universal clinical genomics database: The 2012 International Standards for Cytogenomic Arrays (ISCA) Consortium Meeting
Riggs ER, et al. Hum Mutat 2013 Mar
Reviews and Commentaries on Science & Technology
- Genetics and epigenetics of rheumatoid arthritis
Sebastien Viatte et al. Nat Rev Rheumatol Mar 2013
Genetic privacy needs a more nuanced approach Genetic privacy needs a more nuanced approach
Angrist M Nature 2013 Feb;494(7435):7
- The less-is-more approach to health care- dozens of medical specialties join the campaign to “choose wisely” By Rachel Pomerance, U.S. News & World Report, Mar 5
- When will genomics transform medicine? New York Genome Center, Mar 7
- Venter and Topol on the true revolution in medicine, Medscape Mar 8
- Finding the true $1000 genome
Jeffrey Perkel BioTechniques, Vol. 54, No. 2, Feb 2013, pp. 71–74
- Personal Genome Project: Nature and nurture, warts and all
By Michael Smith, edPage Today, Mar 8
- Momentum grows to make 'personalized' medicine more 'precise' Alla Katsnelson.
Nature Medicine 2013, Mar
- GenomeTV is the National Human Genome Research Institute (NHGRI) collection of video resources
- Do we know enough? A scientific and ethical analysis of the basis for genetic-based personalized nutrition.
Ulf Görman et al, Genes & Nutrition Mar 2013
- “We gained hope.” The story of Lilly’s genome. by Ed Yong, National Geographic, Mar 11
Get ready for the risks of genetic testing, by Arthur Caplan, Special to CNN, Mar 12
Expanded cancer genome project proposed, by Simon Leese, PHG Foundation, Mar 11
How well do you want to know your DNA? PBS News Hour, Mar 12
CDC authors are indicated in bold
Susceptibility to repeated, low-dose, rectal SHIVSF162P3 challenge is independent of TRIM5 genotype in rhesus macaques
Butler K, Morgan JS, Hanson DL, Adams DR, Garcia-Lerma G, Heneine PW, Ellenberger D, Hendry RM, McNicholl JM, Johnson W, Kersh EN. AIDS Res Hum Retroviruses. 2013 Mar 5.
MtrR control of a transcriptional regulatory pathway in Neisseria meningitidis that influences expression of a gene (nadA) encoding a vaccine candidate
Cloward JM, Shafer WM. PLoS One. 2013 ;8(2):e56097.
Modeling uncertain outcomes of genetic testing: factor V Leiden mutation and pregnant women
Grosse SD, Caughey AB. Genet Med. 2013 Feb 28.
Transforming epidemiology for 21st century medicine and public health
Khoury MJ, Lam TK, Ioannidis JP, Hartge P, Spitz MR, Buring JE, Chanock SJ, Croyle R, Goddard KA, Ginsburg GS, Herceg Z, Hiatt RA, Hoover RN, Hunter DJ, Kramer BS, Lauer MS, Meyerhardt JA, Olopade OI, Palmer JR, Sellers TA, Seminara D, Ransohoff DF, Rebbeck TR, Tourassi G, Zauber AG, Winn DM, Schully SD. Cancer Epidemiol Biomarkers Prev. 2013 Mar 5.
Comparison of DNA extraction kits for detection of Burkholderia pseudomallei in spiked human whole blood using real-time PCR
Podnecky NL, Elrod MG, Newton BR, Dauphin LA, Shi J, Chawalchitiporn S, Baggett HC, Hoffmaster AR, Gee JE. PLoS One. 2013 ;8(2):e58032.
Inhibition of DNA-dependent protein kinase catalytic subunit by small molecule inhibitor NU7026 sensitizes human leukemic K562 cells to benzene metabolite-induced apoptosis
You H, Kong MM, Wang LP, Xiao X, Liao HL, Bi ZY, Yan H, Wang H, Wang CH, Ma Q, Liu YQ, Bi YY. J Huazhong Univ Sci Technolog Med Sci. 2013 Feb;33(1):43-50.
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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.
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