Journal of Personalized Medicine – To understand potential barriers and provider attitudes, we surveyed 285 physicians from five Implementing GeNomics In pracTicE (IGNITE) sites about their perceptions as to the clinical utility of genetic data as well as their preparedness to integrate it into practice.
Health Affairs – We surveyed 488 primary care providers in community and academic practices in New York City in the period 2014–16 about their views on genetic testing for chronic diseases.
Journal of Health Care for the Poor and Underserved – To translate genomic discoveries into practice, we gathered information about effects and challenges incorporating genetic risk in clinical care.
American Journal of Perinatology – Here we provide an overview of the genetics of both pre-gestational and gestational diabetes, followed by a review of monogenic diabetes and associated pregnancy-specific implications.
Personalized Medicine – Family health history (FHH) information is well established as a basis for assessing a patient’s personal disease risk, but is underutilized for diagnosis and making medical recommendations. Epidemiological and genetic information have heightened the value of FHH to an individual’s health. This has motivated the development of new FHH collection tools and strategies for family members, but will require greater awareness and knowledge by both patients and practitioners.
The Journal of Molecular Diagnostics – We developed an APOL1 genotyping assay using multiplex allele-specific primer extension, and validated using 58 positive and negative controls.
Annals of the New York Academy of sciences – Currently, there are 382 million people living with diabetes mellitus around the world, and the total number is predicted to increase by over 50% over the next 20 years. Diabetes mellitus is a spectrum of metabolic disorders characterized by hyperglycemia. Poorly controlled diabetes mellitus can lead to microvascular and macrovascular complications, including kidney failure, blindness, amputation, and cardiovascular disease. Fortunately, medical advances have increased the number of treatment options for diabetes and improved outcomes for many individuals. However, there remains a need to determine the appropriate therapy for each individual, since a significant number of monotherapy treatments fail within 3 years and diabetes-related morbidity and mortality continue.
Journal of the American Society of Nephrology – Self-reported ancestry, genetically determined ancestry, and APOL1 polymorphisms are associated with variation in kidney function and related disease risk, but the relative importance of these factors remains unclear.
Trends in Cardiovascular Medicine – Since its approval in 1954, warfarin has been widely prescribed for the prophylaxis and treatment of venous thromboembolism and complications associated with atrial fibrillation and cardiac valve replacement. Even with the availability of newer agents shown to be noninferior to warfarin, warfarin remains the most commonly prescribed oral anticoagulant.
Pharmacogenomics Personalized Medicine – This review aims to summarize the current state of implementing genetic testing for personalized medicine, with an emphasis on clinical pharmacogenetic testing.