Volume 34 Number 18 May 7-14, 2015
Birth Defects and Child Health
An adolescent substance prevention model blocks the effect of CHRNA5 genotype on smoking during high school.
Vandenbergh DJ et al. Nicotine Tob. Res. 2015 May 4.
Vandenbergh DJ et al. Nicotine Tob. Res. 2015 May 4.
The Pediatric Imaging, Neurocognition, and Genetics (PING) data repository.
Jernigan TL et al. Neuroimage 2015 Apr 30.
Jernigan TL et al. Neuroimage 2015 Apr 30.
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.
Willig LK et al. Lancet Respir Med 2015 Apr 27.
Willig LK et al. Lancet Respir Med 2015 Apr 27.
Doctors improve newborn care with genetic testing, by Kimberly Leonard, US News, Apr 28
by Kimberly Leonard, US News, Apr 28Cancer
Adherence patterns to National Comprehensive Cancer Network (NCCN) guidelines for referral to cancer genetic professionals.
Febbraro T et al. Gynecol. Oncol. 2015 Apr 28.
Febbraro T et al. Gynecol. Oncol. 2015 Apr 28.
Early prediction of disease progression in small-cell lung cancer: Towards model-based personalized medicine in oncology.
Buil-Bruna N et al. Cancer Res. 2015 May 4.
Buil-Bruna N et al. Cancer Res. 2015 May 4.
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.
Gynecol. Oncol. 2015 May 1.
Gynecol. Oncol. 2015 May 1.
Use of modified Magee equations and histologic criteria to predict the Oncotype DX recurrence score.
Turner BM et al. Mod. Pathol. 2015 May 1.
Turner BM et al. Mod. Pathol. 2015 May 1.
Ovarian cancer blood tests breakthrough: Huge success of new testing method could lead to national screening in Britain, by Adam Withnall, The Independent, May 5
by Adam Withnall, The Independent, May 5New study on 'very hot topic' in BRCA testing, by Rosanne Nelson, Medscape, May 4 [by free subscription only]
by Rosanne Nelson, Medscape, May 4 [by free subscription only] Chronic Diseases
Alpha-1 antitrypsin deficiency in Canada: regional disparities in diagnosis and management.
Bradi AC et al. COPD 2015 May 12 Suppl 115-21
Bradi AC et al. COPD 2015 May 12 Suppl 115-21
Analysis of the reasons for non-uptake of predictive testing for Huntington's disease in Spain: A qualitative study.
Rivera-Navarro J et al. J Genet Couns 2015 Apr 30.
Rivera-Navarro J et al. J Genet Couns 2015 Apr 30.
Family history and body mass index predict perceived risks of diabetes and heart attack among community-dwelling Caucasian, Filipino, Korean, and Latino Americans-DiLH Survey.
Fukuoka Y et al. Diabetes Res. Clin. Pract. 2015 Apr 20.
Fukuoka Y et al. Diabetes Res. Clin. Pract. 2015 Apr 20.
Family history of premature myocardial infarction, life course socioeconomic position and coronary heart disease mortality - A Cohort of Norway (CONOR) study.
Fiskå BS et al. Int. J. Cardiol. 2015 Apr 22. 190302-307
Fiskå BS et al. Int. J. Cardiol. 2015 Apr 22. 190302-307
Familial risk of Sjögren's syndrome and co-aggregation of autoimmune diseases in affected families: A nationwide population study.
Kuo Chang-Fu et al. 2015 May 4.
Kuo Chang-Fu et al. 2015 May 4.
Italian registry of patients with alpha-1 antitrypsin deficiency: general data and quality of life evaluation.
Luisetti M et al. COPD 2015 May 12 Suppl 152-7
Luisetti M et al. COPD 2015 May 12 Suppl 152-7
The clinical profile of subjects included in the Swedish National Register on individuals with severe alpha 1-antitrypsin deficiency.
Piitulainen E et al. COPD 2015 May 12 Suppl 136-41
Piitulainen E et al. COPD 2015 May 12 Suppl 136-41
The impact of smoke exposure on the clinical phenotype of alpha-1 antitrypsin deficiency in Ireland: exploiting a national registry to understand a rare disease.
O'Brien ME et al. COPD 2015 May 12 Suppl 12-9
O'Brien ME et al. COPD 2015 May 12 Suppl 12-9
The national alpha-1 antitrypsin deficiency registry in Poland.
Chorostowska-Wynimko J et al. COPD 2015 May 12 Suppl 122-6
Chorostowska-Wynimko J et al. COPD 2015 May 12 Suppl 122-6
The United States alpha-1 foundation research registry: genesis, impact and future.
Strange C et al. COPD 2015 May 12 Suppl 142-5
Strange C et al. COPD 2015 May 12 Suppl 142-5
Ethics, Policy and Law
Ethical, legal, social, and policy issues in the use of genomic technology by the U.S. Military.
Mehlman MJ et al. J Law Biosci 2014 Sep 1. 1(3) 244-280
Mehlman MJ et al. J Law Biosci 2014 Sep 1. 1(3) 244-280
Genetics and personal insurance: the perspectives of Canadian cancer genetic counselors.
Lane M et al. J Genet Couns 2015 May 1.
Lane M et al. J Genet Couns 2015 May 1.
Patentability of human genes: the conceptual differences between the industrialised and Latin American countries.
Bergel SD et al. J Community Genet 2015 May 1.
Bergel SD et al. J Community Genet 2015 May 1.
Whole-genome sequencing in critically ill infants and emerging ethical challenges.
Char DS et al. Lancet Respir Med 2015 Apr 27.
Char DS et al. Lancet Respir Med 2015 Apr 27.
Altering genetic material: A line that must not be crossed, by Ruth Macklin, Huffington Post, May 1
by Ruth Macklin, Huffington Post, May 1Genomics in Practice
Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research.
Middleton A et al. Eur. J. Hum. Genet. 2015 Apr 29.
Middleton A et al. Eur. J. Hum. Genet. 2015 Apr 29.
Impact of family history assessment on communication with family members and health care providers: A report from the Family Healthware™ Impact Trial (FHITr).
Wang C et al. Prev Med 2015 Apr 19.
Wang C et al. Prev Med 2015 Apr 19.
Personalized medicine: Time for one-person trials.
Schork NJ et al. Nature 2015 Apr 30. 520(7549) 609-11
Schork NJ et al. Nature 2015 Apr 30. 520(7549) 609-11
Using community-based participatory research principles to develop more understandable recruitment and informed consent documents in genomic research.
Skinner HG et al. PLoS ONE 2015 10(5) e0125466
Skinner HG et al. PLoS ONE 2015 10(5) e0125466
Genetic testing can help adoptees get crucial hereditary information, by Thomas May, Genetic Literacy Project, May 5
by Thomas May, Genetic Literacy Project, May 5 Newborn Screening
An update on the use of health information technology in newborn screening.
Abhyankar S et al. Semin. Perinatol. 2015 Apr 29.
Abhyankar S et al. Semin. Perinatol. 2015 Apr 29.
Medium-chain acyl-CoA dehydrogenase deficiency: Evaluation of genotype-phenotype correlation in patients Detected by newborn screening.
Gramer G et al. JIMD Rep 2015 May 5.
Gramer G et al. JIMD Rep 2015 May 5.
Newborn screening: evolving challenges in an era of rapid discovery.
Bailey DB et al. JAMA 2015 Apr 21. 313(15) 1511-2
Bailey DB et al. JAMA 2015 Apr 21. 313(15) 1511-2
Pharmacogenomics
A survey on the awareness and attitude of pharmacists and doctors towards the application of pharmacogenomics and its challenges in Qatar.
Elewa H et al. J Eval Clin Pract 2015 Apr 30.
Elewa H et al. J Eval Clin Pract 2015 Apr 30.
Effects of CYP2C19 and P2Y12 gene polymorphisms on clinical results of patients using clopidogrel after acute ischemic cerebrovascular disease.
Sen HM et al. Balkan J. Med. Genet. 2014 Dec 17(2) 37-41
Sen HM et al. Balkan J. Med. Genet. 2014 Dec 17(2) 37-41
PGMD: a comprehensive manually curated pharmacogenomic database.
Kaplun A et al. Pharmacogenomics J. 2015 May 5.
Kaplun A et al. Pharmacogenomics J. 2015 May 5.
Reproductive Health
Attitudes and knowledge of maternal-fetal medicine fellows regarding noninvasive prenatal testing.
Swaney P et al. J Genet Couns 2015 May 1.
Swaney P et al. J Genet Couns 2015 May 1.
"Don't want no risk and don't want no problems": Public understandings of the risks and benefits of non-invasive prenatal testing in the United States.
Allyse M et al. AJOB Empir Bioeth 6(1) 5-20
Allyse M et al. AJOB Empir Bioeth 6(1) 5-20
Estimation of detection rates of aneuploidy in high-risk pregnancy using an approach based on nuchal translucency and non-invasive prenatal testing: A cohort study.
Khalil A et al. Fetal. Diagn. Ther. 2015 Apr 30.
Khalil A et al. Fetal. Diagn. Ther. 2015 Apr 30.
Reviews, News and Commentaries
Whole-genome CNV analysis: advances in computational approaches.
Pirooznia M, et al. Front Genet. 2015 Apr 13;6:138.
Pirooznia M, et al. Front Genet. 2015 Apr 13;6:138.
Aligning incentives to fulfil the promise of personalised medicine
Dzau VJ, et al. Lancet 2015 May 6
Dzau VJ, et al. Lancet 2015 May 6
Precision medicine approaches peak hype, Forbes, May 6
Forbes, May 6Phil Bourne: Open data evangelist on NIH data plan, Bio IT World, May 5
Bio IT World, May 5Pint-sized DNA sequencer impresses first users, by Erika Check Hayden, Nature News, May 5
by Erika Check Hayden, Nature News, May 5Sequencing finds listeria in unlikely places, by Catherine Matacic, Science Magazine, May 5
by Catherine Matacic, Science Magazine, May 5New technology maps human genome in days, by Michele Munz, Naples Daily News, May 2
by Michele Munz, Naples Daily News, May 2Genes determine whether exercise causes women to lose or gain weight, Huffington Post, May 1
Huffington Post, May 1Iceland study provides insights into disease, paves way for large-scale genomic studies, by Yekaterina Vaydylevich, NIH, May 1
by Yekaterina Vaydylevich, NIH, May 1New test can predict cancer up to 13 years before disease develops, The Telegraph, May 1
The Telegraph, May 1I’m a bioinformatician, Simon’s Blog, May 1
Simon’s Blog, May 1The big data addiction-NGS has it bad
Greatest Challenge Lies In Effective Analysis and Interpretation. J Buguliskis, GEN News, May 2015
Greatest Challenge Lies In Effective Analysis and Interpretation. J Buguliskis, GEN News, May 2015
CRISPR germline editing reverberates through biotech community, Trade Secrets Blog, Apr 30
Trade Secrets Blog, Apr 30In the wake of new cures bill, NIH celebrates while FDA mulls responsibilities, by Kelly Servick, Science Insider, Apr 30
by Kelly Servick, Science Insider, Apr 30Public want to know medical findings from genomic research, by Dr Philippa Brice, PHG Foundation, Apr 30
by Dr Philippa Brice, PHG Foundation, Apr 30Unlucky genes: When your family tree is full of cancer, Vancouver Sun Blog, Apr 30
Vancouver Sun Blog, Apr 30For $249, shouldn’t we all have the cancer gene panel? My Gene Counsel, Apr 28
My Gene Counsel, Apr 28
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