Precision Medicine: Finally, it’s all about YOU!

At the January 2015 State of the Union Address, President Obama announced his Precision Medicine Initiative. This initiative would put $215 million dollars toward understanding how to personalize an individual’s medical treatment based on his or her genes, environment and lifestyle. While the concept of precision (also referred to as personalized or individualized) medicine isn’t new – think eyeglasses and blood transfusions – advances in science and technology will allow for the exploration of novel treatments and prevention strategies for complex diseases like coronary artery disease, COPD, and hypertension. One million citizens will be asked to volunteer their health data and numerous public and private entities will be collaborating to explore effective disease prevention and treatment.

Why Now?

Developments in basic science, genomics, proteomics, metabolomics, and advances in technology supporting mHealth, electronic health records, and the storage of big data have created the perfect environment to greatly expand precision medicine. If the past ten years is any indication of rapid change, the sky’s the limit for the next decade:

  • Amount of time to sequence the human genome: 2004-2 years, 2014-2 days
  • Cost of human sequencing: 2004-$22,000,000, 2014-$1,000-$5,000
  • Number of smart phones: 2004-1,000,000, 2014-160,000,000
  • Computing power: 2004-n, 2014-n16

Precision Medicine in Action

The Veteran’s Administration (VA) Office of Research and Development has been working to identify genes linked to post traumatic stress disorder (PTSD), high blood pressure, and heart disease. VA researchers have discovered that individuals with a certain form of the serotonin transporter gene 5-HTT are at a greater risk for PTSD and depression, information which helps individualize use and dosage of selective serotonin reuptake inhibitors (SSRI). They have also found that people with certain forms of angiotensin II receptor type-1 (AGTR1) may have an increased risk for high blood pressure, heart disease, and diabetes. This information can help clinicians develop a personalized preventative care program. Find out more on VA research.

Precision medicine can not only impact an individual, it can address health prevention in an entire community. In 2008, an OB/GYN began mapping children born into poverty in Gainesville, Florida. She was put in contact with a sheriff who was also interested in mapping, but her focus was the community’s incidence of crime. When the two women met, they discovered the maps matched exactly to a one square-mile area and further investigation showed the area also had the highest rate of domestic violence, child abuse and neglect. But why? A ride around the area revealed a lot about the environment and lifestyles of community members. There was poorly maintained housing and a complete lack of access to services like child care, healthy food and medical care – with the closest clinic a 2-hour bus ride away. Find out more about what happened to this community.

Resources for Genetic and Environmental Health

Clinical

Community College and University

  • Environmental Health and Toxicology – portal links health professionals and consumers to many resources to understand the connection between the environment and human health and development.
  • GeneEd Web site – (Grades 9 -12+) Links to vetted genetic Web sites based on high school science curriculum. Includes lesson plans and current events.
  • Genetics Home Reference – Consumer-friendly information about genetic variation and human health.

Consumer and Patient Education

  • Environmental Health and Toxicology – portal links health professionals and consumers to many resources to understand the connection between the environment and human health and development.
  • Genetic Alliance – Nonprofit health advocacy organization committed to transforming health through genetics and promoting an environment of openness.
  • Genetics Home Reference – Consumer-friendly information about genetic variation and human health.
  • NHGRI Talking Glossary – Genetic terms, images and animation. (English/Spanish).
  • Office of Rare Diseases Research – Rare diseases information for patients, families, healthcare providers, researchers, educators and students.

Genetics Professionals

K-12

Public Health

  • Environmental Health and Toxicology – portal links health professionals and consumers to many resources to understand the connection between the environment and human health and development.
  • PHPartners – a collaboration of U.S. government agencies, public health organizations, and health sciences libraries which provides timely, convenient access to selected public health resources on the Internet.
  • Public Health Genomics – information on infectious diseases and noncommunicable diseases with a focus on human and pathogen genomics, genomic tests, family history, public health science, programs and practice, as well as policy and legislation.
  • National Information Center on Health Services Research and Heath Care Technology (NICHSR) – information and tools for the health services research community.

Researcher Tools from NIH

  • GenBank – an annotated collection of all publicly available DNA sequences.
  • Gene – integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.
  • Genes and Expressions – Tools to help users query and download experiments and curated gene expression profiles.
  • Human Genome Resources – integrated, one-stop, genomic information infrastructure for biomedical researchers from around the world so that they may use these data in their research efforts.
  • International HapMap Tool – partnership of scientists and funding agencies from Canada, China, Japan, Nigeria, the United Kingdom and the United States to develop a public resource that will help researchers find genes associated with human disease and response to pharmaceuticals.
  • NCBI Webinars and Courses – a series of webinars and courses led by NCBI staff who explain and demonstrate the use of various NCBI web resources with particular emphasis on recent changes and improvements.
  • OMIM – comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily.

Other

-Dana Abbey, Colorado/Health Information Literacy Coordinator

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