Search Results
10 results for rare disease
Genomic Medicine Year in Review 2020: Population-wide Implementation Research Has Arrived

Advances in genomic medicine continue at a steady pace. In a December 2019 paper, The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research of the National Human Genome Research Institute (NHGRI) identified 10 papers with the most significant advances in the field. In our 2019 end of the year blog. we featured 5
Posted on byPublic Health Genomics: What’s Next?

In the 1990’s, the excitement surrounding the Human Genome Project led the public health community to plan for the future role of genomics in health care and disease prevention. The field of public health genomics was launched to identify opportunities for the new science to impact health, inform public health programs and health care providers
Posted on byYour Top 10 Public Health Genomics Knowledge Base Searches in 2018!

Genetic counseling, Alzheimer’s disease, and personal genomics top the list. Top 2018 PHGKB Search Terms Genetic counseling Alzheimer’s disease Personal Genomics Autism Disparities Nutrigenomics Familial Hypercholesterolemia Precision Public Health Precision Medicine Rare Diseases Recently, USA Today revealed 2018’s most popular Google search terms with (the) “World Cup” topping the list. Aptly named, the event, taking
Posted on byThe Road Less Traveled: Genomic Epidemiology Capacity in State Public Health Programs

In 2017, the Council of State and Territorial Epidemiologists (CSTE) published its latest Epidemiology Capacity Assessment of state health departments’ workforce size and resources. The assessment inquired about the number of current and optimal epidemiologist positions; sources of epidemiology activity and funding; and states’ self-perceived capacity to lead epidemiology activities, provide expertise, and manage resources
Posted on byA Road Map for Evaluation and Appropriate Implementation of Genome Sequencing to Improve Population Health

This blog is a summary of our recently published paper in PLOS Medicine, and is an update of my 2011 blog on “binning” the human genome. A common vision for genomic medicine is that genome sequencing will be routinely used in health systems to provide health care and preventive services tailored to each individual. For
Posted on byHappy Holidays! Celebrating the Arrival of 2018 and 20 Years of Public Health Genomics!

This December, we are especially excited as we anticipate the dawning of a bright new year. The ebbing of 2017 marks the end of, not just another year, but two decades of public health genomics. Recently we were provided two valuable opportunities to place a capstone on this important milestone. Last month, at the American
Posted on byIntegrating Genomics into Public Health Surveillance: Ushering in a New Era of Precision Public Health

Public health surveillance has been defined as “the ongoing systematic collection, analysis, and interpretation of data, closely integrated with the dissemination of these data to the public health practitioners, clinicians, and policy makers responsible for preventing and controlling disease and injury.” Surveillance provides an essential scientific foundation for both clinical and public health practice. In
Posted on byGenomics and Population Health Action: Join the Collaboration

In February 2017, I attended a one-day meeting of leaders of the Genomics and Population Health Action Collaborative (GPHAC). This group of more than 40 organizations and individuals is dedicated to the integration of genomics into clinical and public health programs to save lives and prevent disease. (Details on GPHAC and its membership can be
Posted on byThe Cancer Moonshot, Hereditary Cancers and Population Genetic Screening

In September 2016, the Cancer Moonshot Blue Ribbon Panel delivered a report with 10 ambitious recommendations to shape cancer research for the next five years. One recommendation is to “expand use of proven prevention and early detection strategies.” [PDF 199 KB] There is a lot we can do to prevent cancer now— even with no
Posted on byFive Misconceptions About the Role of Genomics in Public Health

In a recent post, I reviewed the progress of genomics in public health over the past two decades and pondered on the lingering skepticism about genomics in the public health community. I propose that this skepticism is driven, at least in part, by 5 common misconceptions about the role of genomics in public health. In
Posted on by 1 Comment