Genetics and Genomics for Health Professionals

New Horizons and Research Activities

The ability to explore genome function is expanding clinical opportunities for gene-based pre-symptomatic prediction of illness and adverse drug response. Genetic researchers are now learning more about how each gene works and what it does. They are studying the role that variations in genes play in disease. Genetic researchers are working to identify the genetic and environmental causes of common illnesses such as asthma, arthritis and Alzheimer disease. The results of such studies are leading to many advances in disease prevention and treatment. Learn more about new directions in clinical research from the resources provided in this section.

Clinical Research

At the National Human Genome Research Institute (NHGRI)
At the National Institutes of Health
  • ClinicalTrials.gov [clinicaltrials.gov]
    ClinicalTrials.gov is a registry of federally and privately supported clinical trials conducted in the United States and around the world. ClinicalTrials.gov provides information about a trial's purpose, who may participate, locations, and phone numbers for more details.
     
  • National Institutes of Health, Clinical Center [clinicalcenter.nih.gov]
    The Clinical Center at the National Institutes of Health (NIH) in Bethesda, Maryland, is the nation's largest hospital devoted entirely to clinical research. It is a national resource that makes it possible to rapidly translate scientific observations and laboratory discoveries into new approaches for diagnosing, treating, and preventing disease.
     
  • Genome-Wide Association Studies
    A genome-wide association study is an approach that involves rapidly scanning markers across the complete sets of DNA, or genomes, of many people to find genetic variations associated with a particular disease. Once new genetic associations are identified, researchers can use the information to develop better strategies to detect, treat and prevent the disease.
     
  • The Cancer Genome Anatomy Project (CGAP)
    The goal of the NCI's Cancer Genome Anatomy Project is to determine the gene expression profiles of normal, precancer, and cancer cells, leading eventually to improved detection, diagnosis, and treatment for the patient. By collaborating with scientists worldwide, CGAP seeks to increase its scientific expertise and expand its databases for the benefit of all cancer researchers.
     
  • The Cancer Genome Atlas (TCGA)
    The Cancer Genome Atlas (TCGA) is a comprehensive and coordinated effort to accelerate our understanding of the molecular basis of cancer through the application of genome analysis technologies, including large-scale genome sequencing.
     
  • Pharmacogenomics Research - Pharmacogenetics and Pharmacogenomics Database [pharmgkb.org]
    PharmGKB curates information that establishes knowledge about the relationships among drugs, diseases and genes, including their variations and gene products. Our mission is to catalyze pharmacogenomics research.
Research Tools 

The Genetics and Genomics in Nursing Practice Survey (GGNPS) Instrument is designed to assess nurse factors influencing genetic/genomic competency.  The research tool measures Diffusion of Innovations (DOI) (Rogers, 2003) domains: attitudes, receptivity, confidence, social system, and adoption. The Scoring Manual and Survey Instrument are freely available for use in research studies and can be administered online or in paper format.
 

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Last Updated: October 3, 2014