Published on 03/10/2016
Human Genomics across the Lifespan
Birth Defects and Child Health
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Health literacy and disease-specific knowledge of caregivers for children with sickle cell disease.
Carden Marcus A et al. Pediatric hematology and oncology 2016 Mar 1-13 -
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
Stark Zornitza et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar
Cancer
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Polygenic susceptibility to testicular cancer: implications for personalised health care.
Litchfield Kevin et al. British journal of cancer 2015 Nov 113(10) 1512-8 -
Predicting Barrett's esophagus in Families: An Esophagus Translational Research Network (BETRNet) Model Fitting Clinical Data to a Familial Paradigm.
Sun Xiangqing et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2016 Feb -
Eligibility Criteria and Genetic Testing Results from a High-Risk Cohort for Hereditary Breast and Ovarian Cancer Syndrome in Southeastern Ontario.
Vidal Ricardo Dos Santos et al. The Journal of molecular diagnostics : JMD 2016 Feb
Chronic Disease
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HLA-Incompatible Kidney Transplantation--Worth the Risk?
Rostaing Lionel P E, et al. The New England journal of medicine 2016 3 0. (10) 982-4 -
Illness representations, knowledge and motivation to perform presymptomatic testing for late-onset genetic diseases.
Leite Ângela et al. Psychology, health & medicine 2016 Mar 1-6 -
Survival Benefit with Kidney Transplants from HLA-Incompatible Live Donors.
Orandi Babak J, et al. The New England journal of medicine 2016 3 0. (10) 940-50 -
Current landscape of direct-to-consumer genetic testing and its role in ophthalmology: a review.
Sanfilippo Paul G et al. Clinical & experimental ophthalmology 2015 Aug 43(6) 578-90 -
A pilot randomized clinical trial evaluating the impact of genetic counseling for serious mental illnesses.
Hippman Catriona et al. The Journal of clinical psychiatry 2016 Feb 77(2) e190-8
Ethics/Policy/Law
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Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research.
Souzeau Emmanuelle et al. Translational vision science & technology 2016 Feb 5(1) 3
Practice
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Incidental Findings: The Importance of Pretest Counseling.
Buchtel Kathryn M et al. Pediatric neurology briefs 2015 Dec 29(12) 91 -
Genomic research in Zambia: confronting the ethics, policy and regulatory frontiers in the 21st Century.
Chanda-Kapata Pascalina et al. Health research policy and systems / BioMed Central 2015 1360 -
Patients' views on incidental findings from clinical exome sequencing.
Clift Kristin E et al. Applied & translational genomics 2015 Mar 438-43 -
Improving Decision Making about Genetic Testing in the Clinic: An Overview of Effective Knowledge Translation Interventions.
Légaré France et al. PloS one 2016 11(3) e0150123 -
Comprehension and Data-Sharing Behavior of Direct-To-Consumer Genetic Test Customers.
McGrath Scott P et al. Public health genomics 2016 Mar -
A community survey on knowledge of the impact of environmental and epigenetic factors on health and disease.
Miller Marian et al. Perspectives in public health 2016 Mar -
Clinical utility of a Web-enabled risk-assessment and clinical decision support program.
Orlando Lori A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar -
Consumer Perceptions of Interactions With Primary Care Providers After Direct-to-Consumer Personal Genomic Testing.
van der Wouden Cathelijne H et al. Annals of internal medicine 2016 Mar -
Medical implications of technical accuracy in genome sequencing.
Goldfeder Rachel L et al. Genome medicine 2016 8(1) 24
Heart, Lung, Blood and Sleep Diseases
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Comprehensive Versus Targeted Genetic Testing in Children with Hypertrophic Cardiomyopathy.
Bales Nathan D et al. Pediatric cardiology 2016 Mar -
The UK Paediatric Familial Hypercholesterolaemia Register: preliminary data.
Ramaswami Uma et al. Archives of disease in childhood 2016 Mar
Pharmacogenomics
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Advancing Pharmacogenomics Education in the Core PharmD Curriculum through Student Personal Genomic Testing.
Adams Solomon M et al. American journal of pharmaceutical education 2016 Feb 80(1) 3 -
Disease-Drug Database for Pharmacogenomic-Based Prescribing.
Hussain Sheena et al. Clinical pharmacology and therapeutics 2016 Mar -
Preemptive Pharmacogenomic Testing for Precision Medicine: A Comprehensive Analysis of Five Actionable Pharmacogenomic Genes Using Next-Generation DNA Sequencing and a Customized CYP2D6 Genotyping Cascade.
Ji Yuan et al. The Journal of molecular diagnostics : JMD 2016 Mar
Reproductive Health
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Practice Bulletin No. 163: Screening for Fetal Aneuploidy.
et al. Obstetrics and gynecology 2016 Mar -
Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders.
et al. Obstetrics and gynecology 2016 Mar -
Ethical and practical challenges in providing noninvasive prenatal testing for chromosome abnormalities: an update.
Benn Peter et al. Current opinion in obstetrics & gynecology 2016 Apr 28(2) 119-24 -
Canadian women's attitudes toward noninvasive prenatal testing of fetal DNA in maternal plasma.
Pariente Gali et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2016 Mar 1-7 -
Patient Choice and Clinical Outcomes Following Positive Noninvasive Prenatal Screening for Aneuploidy with Cell-free DNA (cfDNA).
Dobson Lori et al. Prenatal diagnosis 2016 Mar -
Expanded carrier screening in an infertile population: how often is clinical decision making affected?
Franasiak Jason M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar -
Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.
Hussein Norita et al. The Cochrane database of systematic reviews 2015 8CD010849
Tools/Databases
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Genomic Prescribing System (GPS)
The University of Chicago -
OCDB: a database collecting genes, miRNAs and drugs for obsessive-compulsive disorder.
Privitera Anna P et al. Database : the journal of biological databases and curation 2015 2015bav069 -
OCDB: the first overall database collecting genes, miRNAs and drugs for Obsessive-Compulsive Disorder
News/ Reviews/Comments
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Genetic Test Firm to Put Customers Data in Public Domain,
by Andrew Pollack, International New York Times, March 8, 2016 -
Next Generation Sequencing: The Basics,
by Sally Roberts, News-Medical.net, March 6, 2016 -
Discovery of a gene associated with a set of poorly understood rare diseases,
IRB Barcelona, March 2, 2016 -
Price of sequencing your genome falls to $999,
by Gary Robbins, the San Diego Union-Tribune, March 4, 2016 -
Genetic Counselors Can Weed Out Errors, Ensure Patients Get Needed Tests, Larsen Haidle Says,
by Andrew Smith, AJMC, March 2, 2016 -
Bringing Genomics to High School Students: A Survival Guide,
by Sergio Pistoi, DNA Science Blog, March 4, 2016 -
Look At Me: Why Genetic Test Results Don't Tell The Full Story,
by Caitlin Bawn, WGBH, March 7, 2016 -
Essential genes may not be so essential after all,
by Eric Boodman, STAT, March 3, 2016 -
Theres No Guarantee That Genetic Tests Are Accurate,
By Alexandra Ossola, Popular Science, March 7, 2016 -
DNA Barcodes Could Streamline Search for New Drugs to Combat Cancer,
by Dr. Francis Collins, NIH Director's Blog, March 8, 2016 -
Heres Why Twin Studies Are So Important To Science And NASA,
by Claire Maldarelli, Popular Science, March 1, 2016 -
Screening for Alzheimers Gene Tests the Desire to Know,
by Gina Kolata, International New York Times, March 7, 2016 -
Precision medicine requires reliable genome sequencing,
by Rachel Goldfeder, BioMed Central, March 7, 2016