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Implementing family health history risk stratification in primary care: Impact of guideline criteria on populations and resource demand

American Journal of Medical Genetics – The Genomic Medicine Model aims to facilitate patient engagement, patient/provider education of genomics/personalized medicine, and uptake of risk‐stratified evidence‐based prevention guidelines using MeTree, a patient‐facing family health history (FHH) collection and clinical decision support (CDS) program. Here we report the number of increased risk (above population‐level risk) patients identified for …

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Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between

American Journal of Human Genetics – As more research studies incorporate next-generation sequencing (including whole-genome or whole-exome sequencing), investigators and institutional review boards face difficult questions regarding which genomic results to return to research participants and how. An American College of Medical Genetics and Genomics 2013 policy paper suggesting that pathogenic mutations in 56 specified genes …

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Emerging Roles for Pharmacists in Clinical Implementation of Pharmacogenomics

Pharmacotherapy – Pharmacists are uniquely qualified to play essential roles in the clinical implementation of pharmacogenomics. However, specific responsibilities and resources needed for these roles have not been defined. We describe roles for pharmacists that emerged in the clinical implementation of genotype-guided clopidogrel therapy in the University of Florida Health Personalized Medicine Program, summarize preliminary program …

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Clopidogrel pharmacogenetics: from evidence to implementation

Future Cardiology – Clopidogrel is an ideal target for pharmacogenetic intervention for several reasons. First, there is a strong association between genotype, in this case CYP2C19 genotype, and clopidogrel effectiveness [1]. Second, the consequences of reduced clopidogrel effectiveness, namely adverse cardiovascular events, can be life threatening and costly. Because of these reasons, an increasing number of institutions …

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An openly available online tool for implementing the ACMG/AMP standards and guidelines for the interpretation of sequence variants

Genetics in Medicine – We have been using the standards and guidelines to classify variants identified using a next-generation sequencing gene panel for individuals with suspected forms of monogenic diabetes, such as maturity-onset diabetes of the young, as part of the Personalized Diabetes Medicine Program, a member project in the National Human Genome Research Institute–funded IGNITE …

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