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

Genomics|Update|Non Communicable Diseases

Volume 34  Number 17  April 30 - May 7, 2015

Human Genomics across the Lifespan

• Birth Defects & Child Health
• Cancer
• Chronic Diseases
• Genomics in Practice

• Newborn Screening
• Pharmacogenomics
• Reproductive Health
• Reviews, News & Commentaries

Birth Defects and Child Health

Autism in our DNA? Slew of studies points to genetics as main driver, but there is no "autism gene", by Ben Locwin & Jon Entine, Genetic Literacy Project, Apr 27

Evaluating a counseling strategy for diagnostic WES in pediatric neurology; an exploration of parents' information and communication needs. 
Krabbenborg L et al. Clin. Genet. 2015 Apr 28.

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Cancer

A model-based assessment of the cost-utility of strategies to identify Lynch syndrome in early-onset colorectal cancer patients. 
Snowsill T et al. BMC Cancer 2015 Apr 25. 15(1) 313

Breast cancer prevention in the era of precision medicine. 
Narod SA et al. J. Natl. Cancer Inst. 2015 May 107(5)

Cancer risk in relatives of testicular cancer patients by histology type and age at diagnosis: A joint study from five Nordic countries. 
Kharazmi E et al. Eur. Urol. 2015 Jan 7.

Does rapid genetic counseling and testing in newly diagnosed breast cancer patients cause additional psychosocial distress? results from a randomized clinical trial. 
Wevers MR et al. Genet. Med. 2015 Apr 23.

Effect of oophorectomy on survival after breast cancer in BRCA1 and BRCA2 mutation carriers
Metcalfe K, et al JAMA Oncology 2015 April 23

Oophorectomy linked to better survival in BRCA1 breast cancer, Cancer Therapy Advisor, Apr 24

Oncologists push beyond new lung cancer genomic testing guidelines. 
Garber K et al. J. Natl. Cancer Inst. 2015 Feb 107(2)

Breast cancer screening draft recommendations, U.S. Preventive Services Task Force

Colorectal cancer: What you should know, FDA, Apr 21 

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Chronic Diseases

Limitations of current AHA guidelines and proposal of new guidelines for the preparticipation examination of athletes. 
Dunn TP et al. Clin J Sport Med 2015 Apr 24.

The Psychiatric Genomics Consortium Posttraumatic Stress Disorder Workgroup: Posttraumatic stress disorder enters the age of large-scale genomic collaboration. 
Logue MW et al. Neuropsychopharmacology 2015 Apr 23.

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Genomics in Practice

Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations. 
Lerner-Ellis J et al. J. Med. Genet. 2015 Apr 22.

Can targeted genetic testing offer useful health information to adoptees? 
May T et al. Genet. Med. 2015 Apr 23. (CDC Author)

Evaluation of a cartoon-based knowledge dissemination intervention on scientific and ethical challenges raised by nutrigenomics/nutrigenetics research. 
Lafrenière D et al. Eval Program Plann 2014 Oct 46103-14

Telemedicine uptake among genetics professionals in Europe: room for expansion. 
Otten E et al. Eur. J. Hum. Genet. 2015 Apr 22.

Why the shift? Taking a closer look at the growing interest in niche markets and personalized medicine. 
Gibson S et al. World Med Health Policy 2015 Mar 7(1) 3-27

'An absurd medical test', Genome Web, Apr 28 [by free subscription only]

Panelists offer pros and cons of 'genomic revolution', Cornell Chronicle, Apr 27 

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Newborn Screening

Five years of experience with biochemical cystic fibrosis newborn screening based on IRT/PAP in Germany. 
Sommerburg Olaf et al. Pediatr. Pulmonol. 2015 Apr 23.

Sickle cell disease: time for a targeted neonatal screening programme. 
Gibbons C et al. Ir Med J 2015 Feb 108(2) 43-5

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Pharmacogenomics

Interleukin 28B polymorphisms as predictors of sustained virological response in chronic hepatitis C: systematic review and meta-analysis. 
Cariani E et al. Pharmacogenomics J. 2015 Apr 28. 

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Reproductive Health

Screening performance and costs of different strategies in prenatal screening for trisomy 21. 
Kagan KO et al. Geburtshilfe Frauenheilkd 2015 Mar 75(3) 244-250

Row over human embryo gene editing, by Smitha Mundasad, BBC News, Apr 24

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Reviews, News and Commentaries

American medical education at a crossroads 
Feldman A, et al. Sci Transl Med 29 April 2015: Vol. 7, Issue 285, p. 285fs17

Big names or big ideas: Do peer-review panels select the best science proposals?
Li D, et al. Science 2015 April 24

Is precision medicine the route to a healthy world?
Coote JH, et al. Lancet 2015 April 25

Exploring why some people get fitter than others, by Gretchen Reynolds, The New York Times, Apr 29

Personalized medicine: Time for one-person trials, by Nicholas J. Schork, Nature News, Apr 29

Consumer DNA firms get serious about drug development, by Erika Check Hayden, Nature News, Apr 28

Consumer genomics is already here, by John Sterling, GEN Blog, Apr 28

Genetic testing moves into world of employee health, ABC News, Apr 28 

Scanxiety with Lynch syndrome, Cure Today, Apr 28

Gene therapy moves towards the mainstream,  Genomics Education Programme, Apr 27

Study suggests more genetic testing discussions needed with breast cancer patients, by John Lugo, Genome, Apr 27

Why whole-genome testing hurts more than it helps, by H. Gilbert Welch and Wylie Burke, LA Times, Apr 27

The rise of the microbiome: Challenges and opportunities, by Jonathan Eisen, Slideshare, Apr 24

Precision medicine revolution hits cost and tech barriers, by Meredith Knight, Genetic Literacy Project, Apr 20