Genomics & Health Weekly Update
This weekly update provides information about the impact of human genomic research on disease prevention & population health. Learn more about the Genomics & Health Weekly Update.
Thursday, March 3, 2011 Volume 26 Number 9
Spotlight
Lynch syndrome genetic testing for newly diagnosed colorectal cancer patients
As part of CDC's Expert Commentary Series on Medscape, W. David Dotson, PhD, health scientist from CDC’s Office of Public Health Genomics, explains the Evaluation of Genomic Applications in Practice and Prevention (or EGAPP) Working Group recommendation on genetic testing for all newly-diagnosed colorectal cancer patients to identify Lynch syndrome, a little-understood and under-diagnosed hereditary condition associated with susceptibility to colorectal and other cancers. Learn more.
Announcements
- New publication of interest published as an Institutional Profile in Pharmacogenomics: University of California San Diago Pharmacogenomics Education Program (PharmGenEd™): Bridging the gap between science and practice. Authors: Kuo GM, Ma JD, Lee KC, Halpert JR, Bourne PE, Ganiats TG and Taylor P.
- New publication of interested from the American College of Obstetricians and Gynecologists, Family History as a Risk Assessment Tool, published in Obstetrics & Gynecology, March 2011, recommends that all women undergo a family history evaluation to screen for inherited risk. Read the press release.
- The U.S. Health Resources and Services Administration has awarded a cooperative agreement to Genetic Alliance and Blenderbox to develop and implement BabysFirstTest.org, an online newborn screening clearinghouse, which will connect parents and health care providers with resources and information relevant to the four million newborns screened annually. Read the press release.
Genomics In The News
- The following are headlines from on-line news articles published during the past week.
- The headlines and lead sentence are exactly as they appear in the popular press & do not necessarily reflect the opinions or recommendations of CDC.
- Free registration required for some articles.
Birth Defects
Screening and diagnosing Down syndrome, South Coast Today, March 3
Blood Disorders
New advances in genetic studies of Fanconi Anaemia patients, Medical News Today, March 3
Genetic switch increases muscle blood supply, Science Daily, March 1
Cancer
Aggressive type of lung cancer in never-smokers identified by quick, easy test, Medical News Today, February 28
Gene behind rare skin cancer found, Penarth Times, February 28
Oncogene AEG-1 strongly predicts response to Erlotinib treatment in EGFR-mutant lung cancer, Medical News Today, February 28
Scientists can deliver gene into breast cancer cells causing them to destroy themselves, Medical News Today, February 27
Diabetes
Gene variations associated with risk of type 2 diabetes, Medical News Today, March 1
Environmental and Occupational Health
FDA: Advanced genomic test helps trace sources of foodborne illness outbreak, FDA, February 24
Ethical, Legal, and Social Issues (ELSI)
Dilemmas of destiny: Genetic predictors of disease can raise thorny ethical issues, Physorg.com, February 28
White House Commission eyes genomics issues, Genome Web, February 28 [by free subscription only]
FDA issues PGx draft guidance, Genome Web, February 25 [by free subscription only]
Family History
The family tree could save your life, 41nbc, March 1
ACOG recommends family history evaluation to screen for inherited risk, Medscape, February 24
Genetic Testing
Gene test to predict nerve damage from bone cancer treatment, Scientist Live, March 2
Warfarin study launched to assess impact of genetic testing in reducing hospitalizations and deaths caused by warfarin, Medical News Today, March 2
AMA to FDA: Genetic testing should be conducted by qualified health professionals, Medical News Today, February 25
Coronary heart disease genetic marker test cleared in Europe, Diagnostic & Interventional Cardiology, February 25
Infectious Disease
Gene therapy raises hope for a future AIDS cure, USA Today, February 28
Neurologic Conditions
Gene variants in autism linked to brain development, Medical News Today, March 2
New gene implicated in schizophrenia, PHG Foundation, March 1
Gene variant affects stroke prognosis in humans, EurekAlert, February 28
People with schizophrenia more likely to have multiple copies of a gene on chromosome 7, Medical News Today, February 26
Newborn Screening
Award-winning vendor selected to develop BabysFirstTest.org, Genetic Alliance, March 2
Other
IL28B gene predicts treatment outcome for liver transplantation patients, EurekAlert, March 2
Genetic cause for extreme form of dwarfism uncovered, Medical News Today, March 1
Lack of medical support for patients with rare diseases, PHG Foundation, February 28
Rare Disease Day: 21 rare diseases, The Huffington Post, February 28
Researchers looking at a rare disease make breakthrough that could benefit everyone, EurekAlert, February 28
Healthy genomes: implications for medicine, PHG Foundation, February 26
Singapore scientists perform the first Asian-based genome-wide association study on optic disc area, Medical News Today, February 25
French scientists create DNA app for smartphones, rfi, February 24
Genetic mutations may increase susceptibility to hypothalamic amenorrhea, Endocrine Today, February 24
Genomics in the Scientific Literature
Aging
Genome-Wide Association Studies: Is there a Genotype for Cognitive Decline in Older Persons with Type 2 Diabetes?
Abbatecola AM, et al.
Curr Pharm Des 2011 Feb
The Genetics of Bone Loss: Challenges and Prospects
Mitchell BD & Yerges-Armstrong LM
J Clin Endocrinol Metab 2011 Feb
Autoimmune Disease
The genetics of systemic lupus erythematosus and implications for targeted therapy
Sestak AL, et al.
Ann Rheum Dis 2011 Mar;70 Suppl 1:i37-43
Cancer
Clinical Management of Hereditary Breast Cancer Syndromes
Clark AS & Domchek SM
J Mammary Gland Biol Neoplasia 2011 Mar
Chronic Disease
Hemochromatosis gene and nonalcoholic fatty liver disease: a systematic review and meta-analysis
Hernaez R, et al.
J Hepatol 2011 Feb
Use of thiopurine testing in the management of inflammatory bowel diseases in clinical practice: A worldwide survey of experts
Roblin X, et al.
Inflamm Bowel Dis 2011 Feb
Diabetes
Implications of genome wide association studies for the understanding of type 2 diabetes pathophysiology
Petrie JR, et al.
Biochem Pharmacol 2011 Feb;81(4):471-7
Environmental and Occupational Health
Interactive Effects of Antioxidant Genes and Air Pollution on Respiratory Function and Airway Disease: A HuGE Review
Minelli C, et al.
Am J Epidemiol 2011 Feb
Polymorphism in the DNA Repair Enzyme XRCC1: Utility of Current Database and Implications for Human Health Risk Assessment
Ginsberg G, et al.
Mutat Res 2011 Feb
Family History
Basic medical genetics for the otolaryngologist
Alford RL & Darilek SA
Adv Otorhinolaryngol 2011;70:10-7
Breast cancer risk assessment: positive predictive value of family history as a predictor of risk
Smith RP, et al.
Menopause 2011 Feb
Colonoscopic findings in first-degree relatives of patients with colorectal cancer: a population-based screening program
Armelao F, et al.
Gastrointest Endosc 2011 Mar;73(3):527-34.e2
Genetic Testing
Affective and cognitive attitudes, uncertainty avoidance and intention to obtain genetic testing: An extension of the Theory of Planned Behaviour
Wolff K, et al.
Psychol Health 2011 Feb:1-13
Quality assurance for duchenne and becker muscular dystrophy genetic testing development of a genomic DNA reference material panel
Kalman L, et al.
J Mol Diagn 2011 Mar;13(2):167-74
Underutilization of BRCA1/2 testing to guide breast cancer treatment: Black and Hispanic women particularly at risk
Levy DE, et al.
Genet Med 2011 Feb
Infectious Disease
HCV-GenoFibrotest: A combination of viral, liver and genomic (IL28b, ITPA, UGT1A1) biomarkers for predicting treatment response in patients with chronic hepatitis C
Costa JM, et al.
Clin Res Hepatol Gastroenterol 2011 Feb
Prospects for personalizing antiviral therapy for hepatitis C virus with pharmacogenetics
Tavis JE, et al.
Genome Med 2011 Feb;3(2):8
Maternal and Child Health
Genetics of otitis media
Post C
Adv Otorhinolaryngol 2011;70:135-40
Mental Health
Genetics in psychiatry: Are the promises met?
Bondy B
World J Biol Psychiatry 2011 Mar;12(2):81-8
Neurologic Conditions
Apolipoprotein E in Alzheimer's disease and other neurological disorders
Verghese PB, et al.
Lancet Neurol 2011 Mar;10(3):241-52
Autism spectrum disorders-A genetics review
Miles JH
Genet Med 2011 Feb
HFE Gene Variants Affect Iron in the Brain
Nandar W & Connor JR
J Nutr 2011 Feb
Personalized Medicine
Breast cancer genome heterogeneity: a challenge to personalised medicine?
Swanton C, et al.
Breast Cancer Res 2011 Feb;13(1):104
Pharmacogenomics
A cost effectiveness analysis of thiopurine methyltransferase testing for guiding 6-mercaptopurine dosing in children with acute lymphoblastic leukemia
Donnan JR, et al.
Pediatr Blood Cancer 2011 Feb
Coding of DNA Samples and Data in the Pharmaceutical Industry: Current Practices and Future Directions-Perspective of the I-PWG
Franc MA, et al.
Clin Pharmacol Ther 2011 Feb
Genetic variability of pain perception and treatment-clinical pharmacological implications
Lotsch J
Eur J Clin Pharmacol 2011 Feb
Pharmacogenetics of cutaneous adverse drug reactions
Aihara M
J Dermatol 2011 Mar;38(3):246-54
Should CYP2D6 inhibitors be administered in conjunction with tamoxifen?
Zembutsu H, et al.
Expert Rev Anticancer Ther 2011 Feb;11(2):185-93
Variability in response to clopidogrel: how important are pharmacogenetics and drug interactions?
Ma TK, et al.
Br J Clin Pharmacol 2011 Feb
Why, when, and how should pharmacogenetics be applied in clinical studies?: current and future approaches to study designs
Stingl Kirchheiner JC & Brockmoller J
Clin Pharmacol Ther 2011 Feb;89(2):198-209
Other
An Empirical Test of the Materialist Framework for Understanding the General Population's Reaction to Nonpersonalized Genetic Health Messages
Smerecnik CM, et al.
J Health Commun 2011 Feb:1-13
Developing education tailored to clinical roles: Genetics education for haemophilia nurses
Burke S, et al.
Nurse Educ Today 2011 Feb
Family communication matters: The impact of telling relatives about unclassified variants and uninformative DNA-test results
Vos J, et al.
Genet Med 2011 Feb
Implications for educating the next generation of nurses on genetics and genomics in the 21st century
Lea DH, et al.
J Nurs Scholarsh 2011 Mar;43(1):3-12
HuGE
For this week's human genome epidemiology articles, please visit the HuGE Navigator.
GAPP
For the most recent information on genomic applications in practice and prevention, please visit the GAPP Knowledge Base.
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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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