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The Shift From Personalized Medicine to Precision Medicine and Precision Public Health: Words Matter!

Advances in genomics and other ‘omic’ technologies have ushered in a new era variably called “personalized” or “precision” medicine, which takes into account individual genetic and other sources of variability in disease treatment and prevention. In the past decade, we have seen a significant growth in interest and usage of the terms personalized and precision
Posted on by 1 CommentRare Diseases, Genomics and Public Health: An Expanding Intersection

Rare Disease Day is celebrated on the last day of February each year. On that day, millions of patients and their families around the world share their stories in order to raise awareness about rare diseases and their impact. There are thousands of diseases that are individually rare but collectively common. In the United States,
Posted on by 1 CommentPrecision 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,
Posted on by 1 CommentThe Ultimate Selfie

Now within reach, our personal genomic sequence offers an incredible reflection of who we are, and great promise to improve human health, but there are serious concerns about embracing it too quickly. Empowered Consumers in the Era of Me If social media is any indication, we, like Narcissus of ancient myth, are surely self-obsessed creatures.
Posted on by 3 CommentsNew Strategies For Public Health Genomics Beyond Newborn Screening

A Working Meeting and an Action Plan to Save Lives Now Nearly 2 million Americans are affected by one of three genetic conditions with a strong risk of early morbidity and mortality: BRCA 1/2 and hereditary breast and ovarian cancer; Lynch syndrome and colorectal , endometrial and ovarian cancer; and familial hypercholesterolemia and early cardiovascular events. At
Posted on by 2 CommentsPeeling the Pyramid, Scaling the Onion—How to Implement Genomic Medicine

In spite of the promise of genomics and related technologies for a new era of precision healthcare and disease prevention, only a handful of genomic tests and applications have been recommended for use in clinical practice. Nevertheless, implementation of even the few recommended genomic tests is lagging. For example, implementing the 2005 USPSTF recommendation on genetic
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