Published on 11/25/2015
Human Genomics across the Lifespan
Birth Defects and Child Health
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Challenges in Cystic Fibrosis Newborn Screening and Recommendations for Primary Care Physicians.
Sosnay Patrick R et al. Pediatrics 2015 Nov -
Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation.
Jaeken Jaak et al. European journal of human genetics : EJHG 2015 Nov -
Clinical utility gene card for: Biotinidase deficiency-update 2015.
Küry Sébastien et al. European journal of human genetics : EJHG 2015 Nov -
MASAC Recommendations on Standardized Testing and Surveillance for Inhibitors in Patients with Hemophilia A and B,
National Hemophilia Foundation, October 6, 2015
Cancer
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Cancer prevention as part of precision medicine: "plenty to be done".
Stewart Bernard W et al. Carcinogenesis 2015 Nov -
Cancer Immunotherapy Researchers Focus on Refining Checkpoint Blockade Therapies.
Jacob Julie A, et al. JAMA 2015 11 0. (20) 2117-9 -
Precision medicine for cancer with next-generation functional diagnostics.
Friedman Adam A et al. Nature reviews. Cancer 2015 Dec 15(12) 747-56 -
Alliance Against Cancer, the network of Italian cancer centers bridging research and care.
De Paoli Paolo et al. Journal of translational medicine 2015 13(1) 360 -
Celebrity Health Announcements and Online Health Information Seeking: An Analysis of Angelina Jolie's Preventative Health Decision.
Dean Marleah et al. Health communication 2015 Nov 1-10 -
Non-genetic health professionals' attitude towards, knowledge of and skills in discussing and ordering genetic testing for hereditary cancer.
Douma Kirsten F L et al. Familial cancer 2015 Nov -
Implications of polygenic risk for personalised colorectal cancer screening.
Frampton M et al. Annals of oncology : official journal of the European Society for Medical Oncology / ESMO 2015 Nov -
Impact of Genetic Counseling and Testing on Altruistic Motivations to Test for BRCA1/2: a Longitudinal Study.
Garg Rahul et al. Journal of genetic counseling 2015 Nov -
Family history assessment for colorectal cancer (CRC) risk analysis - comparison of diagram- and questionnaire-based web interfaces.
Schultz Michael et al. BMC medical informatics and decision making 2015 15(1) 95 -
Clinical Use of Cancer Biomarkers in Epithelial Ovarian Cancer: Updated Guidelines From the European Group on Tumor Markers.
Sölétormos György et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2015 Nov -
TSGene 2.0: an updated literature-based knowledgebase for tumor suppressor genes.
Zhao Min et al. Nucleic acids research 2015 Nov -
Improved health perception after genetic counselling for women at high risk of breast and/or ovarian cancer: construction of new questionnaires-an Italian exploratory study.
Catania Chiara et al. Journal of cancer research and clinical oncology 2015 Nov -
Comparison of Prediction Models for Lynch Syndrome Among Individuals With Colorectal Cancer.
Kastrinos Fay et al. Journal of the National Cancer Institute 2016 Feb 108(2) -
BRAF(V600E) mutation is highly prevalent in thyroid carcinomas in the young population in Fukushima: a different oncogenic profile from Chernobyl.
Mitsutake Norisato et al. Scientific reports 2015 516976 -
Current Status of the Management of Hereditary Breast and Ovarian Cancer in Asia: First Report by the Asian BRCA Consortium.
Nakamura Seigo et al. Public health genomics 2015 Nov -
Prospective assessment of the decision-making impact of the Breast Cancer Index in recommending extended adjuvant endocrine therapy for patients with early-stage ER-positive breast cancer.
Sanft Tara et al. Breast cancer research and treatment 2015 Nov
Chronic Disease
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Genetic testing of etiology of intellectual disability in a dedicated physical healthcare outpatient clinic for adults with intellectual disability.
Wallace R A et al. Internal medicine journal 2015 Nov
Ethics/Policy/Law
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Genetic testing and genomic analysis: a debate on ethical, social and legal issues in the Arab world with a focus on Qatar.
El Shanti Hatem et al. Journal of translational medicine 2015 13(1) 358 -
A systematic literature review of individuals' perspectives on broad consent and data sharing in the United States.
Garrison Nanibaa' A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Nov -
Translating personalized genomic medicine into clinical practice: evidence, values, and health policy.
Bombard Yvonne et al. Genome / National Research Council Canada = Genome / Conseil national de recherches Canada 2015 Nov 1-7 -
Principle of proportionality in genomic data sharing.
Wright Caroline F, et al. Nature reviews. Genetics 2016 0 0. (1) 1-2
Practice
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Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement.
Webborn Nick et al. British journal of sports medicine 2015 Dec 49(23) 1486-91 -
Genetics: Relative risk.
Velasquez-Manoff Moises et al. Nature 2015 Nov 527(7578) S116-7 -
Whole Exome and Whole Genome Sequencing, Cigna Medical Coverage Policy [PDF 114.71 KB]
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ClinVar: public archive of interpretations of clinically relevant variants.
Landrum Melissa J et al. Nucleic acids research 2015 Nov -
What works in genomics education: outcomes of an evidenced-based instructional model for community-based physicians.
Reed E Kate et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Nov -
Genetics: Big hopes for big data.
Adams Jill U et al. Nature 2015 Nov 527(7578) S108-9 -
Health Officials’ Latest Tool in Tool Box – Whole Genome Sequencing,
National Law Review, November 24, 2015 -
Effectiveness of Practices To Increase Timeliness of Providing Targeted Therapy for Inpatients with Bloodstream Infections: a Laboratory Medicine Best Practices Systematic Review and Meta-analysis.
Buehler Stephanie S et al. Clinical microbiology reviews 2016 Jan 29(1) 59-103
Heart, Lung, Blood and Sleep Diseases
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Genetic Testing and Genetic Counseling in Patients With Sudden Death Risk Due to Heritable Arrhythmias.
Spoonamore Katherine G et al. Heart rhythm : the official journal of the Heart Rhythm Society 2015 Nov -
Patients with familial hypercholesterolaemia are characterized by presence of cardiovascular disease at the time of death.
Krogh Henriette Walaas et al. European heart journal 2015 Nov -
PCSK9 and Clinical Outcomes in Hypercholesterolemia
American College of Cardiology, November 24, 2015
Newborn Screening
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Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Al-Jasmi Fatma A et al. JIMD reports 2015 Nov -
Newborn Screening for Cystic Fibrosis in California.
Kharrazi Martin et al. Pediatrics 2015 Nov
Pharmacogenomics
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What is needed to incorporate clinical pharmacogenetic tests into the practice of psychopharmacotherapy?
de Leon Jose et al. Expert review of clinical pharmacology 2015 Nov 1-4 -
How your genes influence what medicines are right for you,
The Conversation, November 20, 2015
Reproductive Health
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How do the trends in the prenatal diagnosis of aneuploidy change after a non-invasive prenatal test becomes available? A Japanese single center study.
Hasegawa Junichi et al. Journal of medical ultrasonics (2001) 2015 Apr 42(2) 195-8 -
Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals.
Hill Melissa et al. European journal of human genetics : EJHG 2015 Nov -
Cuba's Salgen: a provincial informatics network for genetic services to pregnant women and newborns.
Rodríguez-Vázquez Miguel et al. MEDICC review 16(3-4) 61-4
Tools/Databases
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The UCSC Genome Browser database: 2016 update.
Speir Matthew L et al. Nucleic acids research 2015 Nov
News/ Reviews/Comments
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The Mermaid's Tale: Epigenetics: what is it and what isn't it? Part I: basic ideas,
by Ken Weiss, the Mermaid's Tale, November 24, 2015 -
Understanding Your Genome,
by Stephanie Dutchen, Harvard Medical School, November 20, 2015 -
Disease genetics: SNP location helps predict disease aetiology.
Lieben Liesbet, et al. Nature reviews. Genetics 2016 1 0. (1) 4 -
Children are the guardians of our genome.
Jader Layla, et al. BMJ (Clinical research ed.) 2015 11 0. h6265 -
Experts Question Role For At-Home Statin Intolerance Test,
by Larry Husten, Cardio Brief, November 22, 2015 -
How Your Genes Influence What Medicines Are Right for You,
by Julie A Johnson, Huffington Post, November 22, 2015 -
U.S. public health funding on the decline,
by Lisa Rapaport, Reuters, November 18, 2015 -
Talk over turkey about health history,
Dayton Daily News, November 23, 2015 -
Ancestry.com's new venture will supply clinicians with instant access to a patient's family history - and make the EMR more robust,
by Eric Wicklund, mHealth Intelligence, November 17, 2015 -
Rare Disease is a Lens on Cancer,
Weizmann Wonder Wander, November 24, 2015