Category: precision medicine
Genomics and Precision Medicine 2021: Progress in Implementation, A Focus on Health Equity, and a New Public Health Initiative
In this post, we reflect on another eventful year in genomics and precision medicine and review the emerging opportunities for the field to make an impact on population health. We use the annual review published by the National Human Genome Research Institute (NHGRI) along with our own website updates, and blogs as a springboard for Read More >Posted on by
Working from the perspective of public health, we have frequently expressed concerns about the potential of precision health technology to exacerbate health disparities. Many of these discussions have focused on genomic-based approaches such as using polygenic risk scores (PRS) for a wide array of disease and health outcomes. Because of minority underrepresentation in basic research, Read More >Posted on by
In August 2019, the All of Us Research Program announced the funding of a nationwide resource to provide genetic counseling support to one or more million participants in the precision medicine cohort in the United States. Participants from diverse populations will share health information over time through surveys and electronic health records, and they will Read More >Posted on by
Stimulating Implementation Science in Genomics and Precision Medicine for Heart, Lung, Blood and Sleep Diseases: The Case of Familial Hypercholesterolemia
Implementation science is an emerging field of scientific inquiry that has been increasingly applied to genomics and precision medicine. In our recent papers on the state of scientific publications and NIH funding, we have identified areas of growth and limitations of the field and called for more training and workforce development for implementation science in Read More >Posted on by
Precision Medicine in Action: How well does cascade screening for hereditary conditions work in the real world?
An important component of precision medicine is the identification, through genetic testing, of people who are at elevated risk of disease because of pathogenic germline mutations. Cascade screening involves contacting relatives of patients with certain hereditary conditions to help inform, manage, and identify those who may be at increased risk. A systematic scoping review on Read More >Posted on by
Population-based cancer surveillance provides a quantitative measurement of cancer occurrence in the United States and globally. Core activities of surveillance include measuring cancer incidence and characterizing each cancer with regard to histopathology, stage, and treatment in the context of survival. Cancer surveillance has been crucial in informing policy and practice, as well as clinical and Read More >Posted on by
Genomic discoveries to clinical applications: Are we reaching an inflection point toward precision medicine?
Each year at the annual American Society of Human Genetics (ASHG) meeting I follow certain rituals. During the first “poster session”, I quickly peruse all of the vendor booths on the floor to assess something of the overall flavor of the commercial space’s focus. During the next two poster sessions I cruise all of the Read More >Posted on by
Precision Medicine, Implementation Science and Public Health: How Do We Scale Up From 1 Million to 300 Million?
Planning for the 2015 Presidential Precision Medicine Initiative is in full swing. After the initial announcement in January 2015, several workshops were held to help in design and execution of the longitudinal cohort study of 1 million persons. The workshops covered important topics including a Building a Precision Medicine Research Cohort, Scientific Opportunities, Digital Health Data, Read More >Posted on by
The announcement of a new major US Precision Medicine initiative comes more than a decade after the completion of the Human Genome Project, the ambitious project that culminated in sequencing all 3 billion base pairs of our genome. Continuous improvement in the quality of sequencing, dramatic reduction in price, and ongoing advances in multiple sectors Read More >Posted on by