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Luca Salmasi, Enrico Capobianco
Precision medicine presents various methodological challenges whose assessment requires the consideration of multiple factors. In particular, the data multitude in the Electronic Health Records poses interoperability issues and requires novel inference strategies. A problem, though apparently a paradox, is that highly specific treatments and a variety of outcomes may hardly match with consistent observations (i.e., large samples). Why is it the case? Owing to the heterogeneity of Electronic Health Records, models for the evaluation of treatment effects need to be selected, and in some cases, the use of instrumental variables might be necessary...
April 7, 2016: Statistical Methods in Medical Research
Daniel Greene, Sylvia Richardson, Ernest Turro
Rare genetic disorders, which can now be studied systematically with affordable genome sequencing, are often caused by high-penetrance rare variants. Such disorders are often heterogeneous and characterized by abnormalities spanning multiple organ systems ascertained with variable clinical precision. Existing methods for identifying genes with variants responsible for rare diseases summarize phenotypes with unstructured binary or quantitative variables. The Human Phenotype Ontology (HPO) allows composite phenotypes to be represented systematically but association methods accounting for the ontological relationship between HPO terms do not exist...
March 3, 2016: American Journal of Human Genetics
F D Richard Hobbs, Clare Bankhead, Toqir Mukhtar, Sarah Stevens, Rafael Perera-Salazar, Tim Holt, Chris Salisbury
BACKGROUND: Primary care is the main source of health care in many health systems, including the UK National Health Service (NHS), but few objective data exist for the volume and nature of primary care activity. With rising concerns that NHS primary care workload has increased substantially, we aimed to assess the direct clinical workload of general practitioners (GPs) and practice nurses in primary care in the UK. METHODS: We did a retrospective analysis of GP and nurse consultations of non-temporary patients registered at 398 English general practices between April, 2007, and March, 2014...
June 4, 2016: Lancet
Jeffrey A Linder, David M Levine
No abstract text is available yet for this article.
May 1, 2016: JAMA Internal Medicine
Tobias Dreischulte, Peter Donnan, Aileen Grant, Adrian Hapca, Colin McCowan, Bruce Guthrie
BACKGROUND: High-risk prescribing and preventable drug-related complications are common in primary care. We evaluated whether the rates of high-risk prescribing by primary care clinicians and the related clinical outcomes would be reduced by a complex intervention. METHODS: In this cluster-randomized, stepped-wedge trial conducted in Tayside, Scotland, we randomly assigned participating primary care practices to various start dates for a 48-week intervention comprising professional education, informatics to facilitate review, and financial incentives for practices to review patients' charts to assess appropriateness...
March 17, 2016: New England Journal of Medicine
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