Genomics|Update|Non Communicable Diseases ▲ Human Genomics across the Lifespan

Genomics|Update|Non Communicable Diseases

Volume 34  Number 8  February 26 - March 5, 2015

Human Genomics across the Lifespan

• Birth Defects & Child Health
• Cancer
• Chronic Diseases
• Ethics, Policy & Law

• Newborn Screening
• Pharmacogenomics
• Reviews, News & Commentaries

Birth Defects and Child Health

Association of an inherited genetic variant with vincristine-related peripheral neuropathy in children with acute lymphoblastic leukemia
Barthelemy Diouf, et al. JAMA 2015 Feb 24

Benefits of genomic sequencing evident in pediatric diagnoses: Recent study finds testing method less costly, more effective than other medical, genetic tests. 
Am. J. Med. Genet. A 2015 3 0. (3) vii-viii

Clinical utility gene card for: CHARGE syndrome - update 2015. 
van Ravenswaaij-Arts Conny Ma et al. Eur. J. Hum. Genet. 2015 2 18.

CDC key findings: Population-based prevalence of Duchenne and Becker muscular dystrophies in the United States

Prevalence of Duchenne and Becker muscular dystrophies in the United States. 
Romitti Paul A et al. Pediatrics 2015 Feb 16.

Duchenne, Becker muscular dystrophy 'affects 1 in 5,000 boys in the US', Medical News Today, Feb 16

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Cancer

A modified Lynch syndrome screening algorithm in colon cancer: BRAF immunohistochemistry is efficacious and cost beneficial. 
Roth Rachel M et al. Am. J. Clin. Pathol. 2015 3 0. (3) 336-43

Adjusting the frequency of mammography screening on the basis of genetic risk: Attitudes among women in the UK. 
Meisel Susanne F et al. Breast 2015 2 20.

End of cancer-genome project prompts rethink. 
Ledford Heidi et al. Nature 2015 1 8. (7533) 128-9

Family history of prostate cancer in men being followed by active surveillance does not increase risk of being diagnosed with high-grade disease. 
Selkirk Christina G et al. Urology 2015 2 20.

Genomic classifier identifies men with adverse pathology after radical prostatectomy who benefit from adjuvant radiation therapy.
Den RB, et al. J Clin Oncol. 2015 Feb 9. pii: JCO.2014.59.0026.

Practical opportunities to improve early detection and prevention of colorectal cancer (CRC) in members of high-risk families. 
Patel S G et al. Dig. Dis. Sci. 2015 2 20.

Precision medicine to improve the risk and benefit of cancer care
Howard L. McLeod JAMA 2015 Feb 24

Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.
Wong-Brown MW, et al. Breast Cancer Res Treat. 2015 Feb 15.

Breast cancer gene breakthrough, Healthcanal, Feb 24

Utility of next generation sequencing technologies for the efficient genetic resolution of haematological disorders. 
Zhang Jianguo et al. Clin. Genet. 2015 2 20.

Timing of risk reducing mastectomy in breast cancer patients carrying a BRCA1/2 mutation: retrospective data from the Dutch HEBON study. 
Wevers M R et al. Fam. Cancer 2015 2 21. 

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Chronic Diseases

Disclosing genetic risk for coronary heart disease: effects on perceived personal control and genetic counseling satisfaction. 
Robinson Christopher L et al. Clin. Genet. 2015 2 23.

Epidemiology of Huntington disease: first post-HTT gene analysis of prevalence in Italy. 
Squitieri Ferdinando et al. Clin. Genet. 2015 2 18.

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Ethics, Policy and Law

Clinical genetic research 3: Genetics ELSI (Ethical, Legal, and Social Issues) Research. 
Pullman Daryl et al. Methods Mol. Biol. 2015 0 0. 369-82

Reflections on the US FDA's warning on direct-to-consumer genetic testing. 
Yim Seon-Hee et al. Genomics Inform 2014 12 0. (4) 151-5

23andMe gets FDA approval for Bloom Syndrome genetic test, by Katelyn Busse, National Monitor, Feb 23

FDA approves 23andMe's DNA test, but not the one it halted earlier, by Cecile Janssens, Huffington Blog Post, Feb 23

FDA clearance of DTC genetic test gets mixed reviews, Medscape, Feb 20 [by free subscription only]

The shifting sands of direct-to-consumer genetic test regulation, by Philippa Brice, PHG Foundation, Feb 23

US regulators try to tame 'wild west' of DNA testing, by Erika Check Hayden, Nature News, Feb 20

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Newborn Screening

Newborn screening: spotting for more. 
Lancet 2015 1 10. (9963) 90

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Pharmacogenomics

Awareness regarding clinical application of pharmacogenetics among Japanese pharmacists. 
Obara Taku et al. Pharmgenomics Pers Med 2015 0 0. 35-41

Implementation of pharmacogenomics: Evidence needs
Mary V. Relling, David L. Veenstra Discussion Paper IOM 2015 Feb 26

Pharmacogenomic information in drug labels: European Medicines Agency perspective. 
Ehmann F et al. Pharmacogenomics J. 2015 2 24.

Review of pharmacoeconomic evaluation of genotype-guided antiplatelet therapy. 
Jiang Minghuan et al. Expert Opin Pharmacother 2015 2 7. 1-9

Web resources for pharmacogenomics. 
Zhang Guoqing et al. Genomics Proteomics Bioinformatics 2015 2 19. 

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Reviews, News and Commentaries

Protein clues to sudden cardiac death mysteries, by Rebecca Burbidge, PHG Foundation, Feb 26

Data sharing: Make outbreak research open access, Nature News, Feb 25

Personalized medicine: Great, but some really serious issues,  by Arthur L. Caplan, Medscape, Feb 24 [by free subscription only]

eMERGE publications highlight large-scale genomics research using electronic medical records, by Steven Benowitz, NHGRI, Feb 23

An era of precision medicine and rapid learning, by Lynn Etheredge, Health Affairs Blog, Feb 20

Big data needs better questions, by Elizabeth Sabet, World Bank Blog Post, Feb 18