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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


Couple meeting with doctor

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.



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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


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


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,, 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FDA issues PGx draft guidance, Genome Web, February 25 [by free subscription only]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, Genetic Alliance, March 2


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

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Genomics in the Scientific Literature


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


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


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


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


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


For this week's human genome epidemiology articles, please visit the HuGE Navigator.


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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