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, June 18, 2009       Volume 22   Number 24

 

Spotlight

CDC-Supported Family Healthware Study Methods Released
This month, the American Journal of Preventive Medicine published a paper that describes the methodology of an evaluation study of Family Healthware. Family Healthware is a web-based tool developed by CDC’s Office of Public Health Genomics for collecting family health history and assessing disease risk. The study was conducted by the University of Michigan School of Medicine, Evanston Northwestern Healthcare Research Institute, and Case Western Reserve University School of Medicine. Read the methods paper. Also available in PDF (PDF 263KB). Read about Family Healthware and preliminary results of this study.

 

Announcements

• New evidence report on, Outcomes of Genetic Testing in Adults with a History of Venous Thromboembolism, released by the Agency for Healthcare Research and Quality (AHRQ) on June 17th. Read the AHRQ press release.
• CDC, NCI, and other stakeholders have launched the Genomic Applications in Practice and Prevention Network (GAPPNet) to help accelerate and streamline effective and responsible use of validated and useful genomic knowledge and applications into clinical and public health practice. Visit the GAPPNet Web page. Access a new scientific article about GAPPNet (PDF 311KB).
• CDC Publishes Recommendations on Good Lab Practices for Genetic Testing. Read the recommendations in the Morbidity and Mortality Weekly Report. Also available in PDF (PDF 593KB). For questions and comments, contact cdcinfo@cdc.gov.

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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.

Biobanking

Hospital to collect patients' genomic data, Technology Review, June 12

Cancer

Gene findings are revealing reasons for neuroblastoma risk, Medical News Today, June 18

Massague: "We have discovered the first genes intervening in brain metastasis", Medical News Today, June 18

Cancer activist sounds alarm for early testing for genetic marker, The Baltimore Sun, June 17

Scientists find faster, cheaper way to identify cancer causing genes, Medical News Today, June 17

Fifty one genes predict breast cancer survival, Medical News Today, June 15

Researchers identify key gene in deadly inflammatory breast cancer, Medical News Today, June 15

LSUHSC research finds single gene controls growth of some cancers, EurekAlert, June 11

Cardiovascular Disease

Genes affect blood pressure risk, WebMD, June 16

Diabetes

TGen and USC researchers find genetic markers to help fight diabetes, EurekAlert, June 16

Ethical, Legal, and Social Issues (ELSI)

The Genetic Interest Group welcomes EU health ministers' move to tackle rare diseases, Medical News Today, June 16

Our view: Government awards patents for genes, stifling research, USA Today, June 16

Personal genomics: patience is a virtue, Times Online, June 12

Epigenetic

Companies starting work on H1N1 vaccine: CDC, Reuters Health, May 29

Genomic Applications in Practice and Prevention Network (GAPPNet)

CDC, NIH to start genomic applications network, Genome Web, June 5 [by free subscription only]

Genetic Testing

A look inside your genetic roadmap can provide answers that you can't get elsewhere, wrdw.com, June 2

European genetics group offers draft of genetic testing oversight, Genome Web, June 2 [by free subscription only]

Genetic testing in minors: ESHG recommendations, PHG Foundation, June 2

Quest Diagnostics introduces first comprehensive laboratory test to analyze KRAS, NRAS, and BRAF gene mutations in reflex testing service, Medical News Today, June 2

Expert urges testing for genetic disorders, Cleveland Jewish News, May 29

First annual Consumer Genetics Conference to demystify direct-to-consumer genetic tests, ..., Business Wire, May 29

Influenza

Companies starting work on H1N1 vaccine: CDC, Reuters Health, May 29

Mental Health

Much touted "depression risk gene" may not add to risk after all, NIH News, June16

Other News

Aussie and Kiwi researchers make double MS genetic discovery, Medical News Today, June 15

Closing the gaps in the human genome, Science Daily, June 15

Huntington's disease deciphered, Medical News Today, June 15

Scientists identify gene vital to early embryonic cells forming a normal heart and skull, EurekAlert, June 15

Scientists launch Gene Expression Atlas, News-Medical.Net, June 15

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Genomics in Scientific Literature

Featured Item

Cancer genetic predisposition: information needs of patients irrespective of risk level
Metcalfe A, et al.
Fam Cancer 2009 Jun

General Articles

The synergy factor: a statistic to measure interactions in complex diseases
Cortina-Borja M, et al.
BMC Res Notes 2009 Jun;2(1):105

Dissecting the many genetic faces of schizophrenia
Rujescu D & Collier DA
Epidemiol Psichiatr Soc 2009 Apr-2009 Jun;18(2):91-5

Criteria for selection of single nucleotide polymorphisms in pathway pharmacogenetics: TNF inhibitors as a case-study
Kooloos WM, et al.
Drug Discov Today 2009 Jun

Predictive role of gene polymorphisms affecting thrombin-generation pathway in variable efficacy of photodynamic therapy for neovascular age-related macular degeneration
Parmeggiani F, et al.
Recent Pat DNA Gene Seq 2009;3(2):114-22

The role of vascular factors in late-onset sporadic Alzheimer's disease. Genetic  and molecular aspects
Rocchi A, et al.
Curr Alzheimer Res 2009 Jun;6(3):224-37

Polygenic susceptibility to breast cancer: current state-of-the-art
Ghoussaini M & Pharoah PD
Future Oncol 2009 Jun;5(5):689-701

Discovering novel risk factors for venous thrombosis: a candidate-gene approach
Smith NL, et al.
Thromb Res 2009;123 Suppl 4:S25-9

The Impact of Gene-Environment Dependence and Misclassification in Genetic Association Studies Incorporating Gene-Environment Interactions
Lindstrom S, et al.
Hum Hered 2009 Jun;68(3):171-81

HLA-B*5701 screening prior to abacavir prescription: clinical and laboratory aspects
Nolan D
Crit Rev Clin Lab Sci 2009;46(3):153-65

Long-term cohort study of women at intermediate risk of familial breast cancer: experiences of living at risk
Bennett P, et al.
Psychooncology 2009 Jun

Genetics of psychosis; insights from views across the genome
O'Donovan MC, et al.
Hum Genet 2009 Jun

Family History

Family history? The forgotten question in high-risk colorectal cancer patients
Foo W, et al.
Colorectal Dis 2009 Jun;11(5):450-5

Awareness of heredity in colorectal cancer patients is insufficient among clinicians: a Norwegian population-based study
Trano G, et al.
Colorectal Dis 2009 Jun;11(5):456-61

Methods for Assessing Familial Aggregation: Family History Measures and Confounding in the Standard Cohort, Reconstructed Cohort and Case-Control Designs
Zimmerman R, et al.
Hum Hered 2009 Jun;68(3):201-8

The current state of cancer family history collection tools in primary care: a systematic review
Qureshi N, et al. Genet Med
2009 Jun

Genetic Testing

DNA-based test: when and why to apply it to primary hyperparathyroidism clinical  phenotypes
Falchetti A, et al.
J Intern Med 2009 Jul;266(1):69-83

Using the Optimal Robust Receiver Operating Characteristic (ROC) Curve for Predictive Genetic Tests
Lu Q, et al.
Biometrics 2009 Jun

Good laboratory practices for molecular genetic testing for heritable diseases and conditions
Chen B, et al.
MMWR Recomm Rep 2009 Jun;58(RR-6):1-37; quiz CE-1-4

Cost effectiveness of pharmacogenetic testing for uridine diphosphate glucuronosyltransferase 1A1 before irinotecan administration for metastatic colorectal cancer
Gold HT, et al.
Cancer 2009 Jun

Genome Wide

A genome-wide association study of testicular germ cell tumor
Rapley EA, et al.
Nat Genet 2009 May

Genome-wide association study of bipolar disorder in European American and African American individuals
Smith EN, et al.
Mol Psychiatry 2009 Jun

Genome-wide Study of Single Nucleotide Polymorphisms Associated with Azoospermia  and Severe Oligozoospermia
Aston KI & Carrell DT
J Androl 2009 May

HuGE

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

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