Published on 05/07/2015
Human Genomics across the Lifespan
Birth Defects and Child Health
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An Adolescent Substance Prevention Model Blocks the Effect of CHRNA5 Genotype on Smoking During High School.
Vandenbergh David J et al. Nicotine Tob. Res. 2015 May 4. -
The Pediatric Imaging, Neurocognition, and Genetics (PING) Data Repository.
Jernigan Terry L 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 Laurel K et al. Lancet Respir Med 2015 Apr 27. -
Doctors improve newborn care with genetic testing,
by Kimberly Leonard, US News, Apr 28
Cancer
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No Clinical Utility of KRAS Variant rs61764370 for Ovarian or Breast Cancer.
Gynecol. Oncol. 2015 May 1. -
Early prediction of disease progression in small-cell lung cancer: Towards model-based personalized medicine in oncology.
Buil-Bruna Nuria et al. Cancer Res. 2015 May 4. -
Adherence patterns to National Comprehensive Cancer Network (NCCN) guidelines for referral to cancer genetic professionals.
Febbraro Terri et al. Gynecol. Oncol. 2015 Apr 28. -
Use of modified Magee equations and histologic criteria to predict the Oncotype DX recurrence score.
Turner Bradley M 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 -
New study on 'very hot topic' in BRCA testing,
by Rosanne Nelson, Medscape, May 4 [by free subscription only]
Chronic Disease
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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. -
Italian registry of patients with alpha-1 antitrypsin deficiency: general data and quality of life evaluation.
Luisetti Maurizio et al. COPD 2015 May 12 Suppl 152-7 -
The United States alpha-1 foundation research registry: genesis, impact and future.
Strange Charlie et al. COPD 2015 May 12 Suppl 142-5 -
The Clinical Profile of Subjects Included in the Swedish National Register on Individuals with Severe Alpha 1-Antitrypsin deficiency.
Piitulainen Eeva et al. COPD 2015 May 12 Suppl 136-41 -
The national alpha-1 antitrypsin deficiency registry in poland.
Chorostowska-Wynimko Joanna et al. COPD 2015 May 12 Suppl 122-6 -
Alpha-1 antitrypsin deficiency in Canada: regional disparities in diagnosis and management.
Bradi Ana C et al. COPD 2015 May 12 Suppl 115-21 -
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 M Emmet et al. COPD 2015 May 12 Suppl 12-9 -
Family history of premature myocardial infarction, life course socioeconomic position and coronary heart disease mortality - A Cohort of Norway (CONOR) study.
Fiskå Bendik S et al. Int. J. Cardiol. 2015 Apr 22. 190302-307 -
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 Yoshimi et al. Diabetes Res. Clin. Pract. 2015 Apr 20. -
Analysis of the Reasons for Non-Uptake of Predictive Testing for Huntington's Disease in Spain: A Qualitative Study.
Rivera-Navarro Jesús et al. J Genet Couns 2015 Apr 30.
Ethics/Policy/Law
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Ethical, legal, social, and policy issues in the use of genomic technology by the U.S. Military.
Mehlman Maxwell J et al. J Law Biosci 2014 Sep 1. 1(3) 244-280 -
Whole-genome sequencing in critically ill infants and emerging ethical challenges.
Char Danton S et al. Lancet Respir Med 2015 Apr 27. -
Patentability of human genes: the conceptual differences between the industrialised and Latin American countries.
Bergel Salvador Darío et al. J Community Genet 2015 May 1. -
Genetics and Personal Insurance: the Perspectives of Canadian Cancer Genetic Counselors.
Lane Michelle et al. J Genet Couns 2015 May 1. -
Altering genetic material: A line that must not be crossed,
by Ruth Macklin, Huffington Post, May 1
Practice
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Using community-based participatory research principles to develop more understandable recruitment and informed consent documents in genomic research.
Skinner Harlyn G et al. PLoS ONE 2015 10(5) e0125466 -
Personalized medicine: Time for one-person trials.
Schork Nicholas J et al. Nature 2015 Apr 30. 520(7549) 609-11 -
Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research.
Middleton Anna et al. Eur. J. Hum. Genet. 2015 Apr 29. -
Genetic testing can help adoptees get crucial hereditary information,
by Thomas May, Genetic Literacy Project, May 5
Newborn Screening
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Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening.
Gramer Gwendolyn et al. JIMD Rep 2015 May 5. -
Newborn screening: evolving challenges in an era of rapid discovery.
Bailey Donald B et al. JAMA 2015 Apr 21. 313(15) 1511-2 -
An update on the use of health information technology in newborn screening.
Abhyankar Swapna et al. Semin. Perinatol. 2015 Apr 29.
Pharmacogenomics
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PGMD: a comprehensive manually curated pharmacogenomic database.
Kaplun A et al. Pharmacogenomics J. 2015 May 5. -
Effects of CYP2C19 and P2Y12 Gene Polymorphisms on Clinical Results of Patients Using Clopidogrel after Acute Ischemic Cerebrovascular Disease.
Sen H M et al. Balkan J. Med. Genet. 2014 Dec 17(2) 37-41 -
A survey on the awareness and attitude of pharmacists and doctors towards the application of pharmacogenomics and its challenges in Qatar.
Elewa Hazem et al. J Eval Clin Pract 2015 Apr 30.
Reproductive Health
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"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 Megan et al. AJOB Empir Bioeth 6(1) 5-20 -
Attitudes and Knowledge of Maternal-Fetal Medicine Fellows Regarding Noninvasive Prenatal Testing.
Swaney Paul et al. J Genet Couns 2015 May 1. -
"Suddenly Having two Positive People who are Carriers is a Whole New Thing"- Experiences of Couples Both Identified as Carriers of Cystic Fibrosis Through a Population-Based Carrier Screening Program in Australia.
Ioannou Liane et al. J Genet Couns 2015 May 1. -
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 Asma et al. Fetal. Diagn. Ther. 2015 Apr 30.
News/ Reviews/Comments
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For $249, shouldn't we all have the cancer gene panel?
My Gene Counsel, Apr 28 -
I'm a bioinformatician,
Simon?s Blog, May 1 -
NIH summit delivers recommendations to transform Alzheimer's disease research,
NIH News, May 1 -
Iceland study provides insights into disease, paves way for large-scale genomic studies,
by Yekaterina Vaydylevich, NIH, May 1 -
Sequencing finds listeria in unlikely places,
by Catherine Matacic, Science Magazine, May 5 -
Public want to know medical findings from genomic research,
by Dr Philippa Brice, PHG Foundation, Apr 30 -
Unlucky genes: When your family tree is full of cancer,
Vancouver Sun Blog, Apr 30 -
Pint-sized DNA sequencer impresses first users,
by Erika Check Hayden, Nature News, May 5 -
Whole-genome CNV analysis: advances in computational approaches.
Pirooznia Mehdi et al. Front Genet 2015 6138 -
Toothbrush that checks your DNA for onset of cancer and Alzheimer's could revolutionise health care, say scientists,
Daily Mail, Apr 25 -
Genes determine whether exercise causes women to lose or gain weight,
Huffington Post, May 1 -
New test can predict cancer up to 13 years before disease develops,
The Telegraph, May 1 -
In the wake of new cures bill, NIH celebrates while FDA mulls responsibilities,
by Kelly Servick, Science Insider, Apr 30 -
CRISPR germline editing reverberates through biotech community,
Trade Secrets Blog, Apr 30 -
Phil Bourne: Open Data Evangelist on NIH Data Plan,
Bio IT World, May 5 -
Precision medicine approaches peak hype,
Forbes, May 6 -
Aligning incentives to fulfil the promise of personalised medicine.
Dzau Victor J, et al. Lancet (London, England) 2015 5 0. (9982) 2118-9