Starting this Thursday, November 1st, NCBI staff from projects like ClinVar, GTR, MedGen, Medical Genetics Summaries and OSIRIS will be ready to hear your feedback at the Association for Molecular Pathology (AMP) 2018 Annual Meeting & Expo in San Antonio, Texas. Come to booth #1810 and tell us how to make our resources better for you or ask questions about how to participate and use these resources!
Staff will also present on their current work at AMP 2018. We will present our analyses of current GTR tests and discuss how GTR data aims to reflect the current genetic testing landscape.
Below is a sneak peek on two different presentations to learn about “The NIH Genetic Testing Registry (GTR): Test Methodologies as a Sensor of the Precision Medicine Environment”:
- Poster TT046 – Friday, November 2 from 2:30 – 3:30 PM
- Technical Topics Platform Presentation – Saturday, November 3 from 7:45 – 8:00 AM
At AMP 2018, we will present our analyses of current GTR tests and discuss how GTR data aims to reflect the current genetic testing landscape.
NIH launched the Genetic Testing Registry (GTR) in 2012 to advance public health and research into the genetic basis of health and disease. GTR is a free online resource for comprehensive genetic test information that is voluntarily submitted by test providers. As of October 2018, GTR has grown to include 55,240 clinical genetic tests, 266 research genetic tests submitted by 510 laboratories from 42 countries, covering 16,452 genes and 11,261 conditions.
GTR includes molecular, biochemical and cytogenetic tests for Mendelian disorders, drug responses, and somatic phenotypes. Tests range from single to multigene, complex arrays and multiplex panels. Clinical tests have information on analytical validity, as well as evidence of clinical validity and clinical utility. Research tests have information on the study and participation requirements. Also, the test displays information on how to order the test, the name, location, contact information, and credentials of laboratories. As testing laboratories provide information such as methodologies used, we have analyzed the GTR data to evaluate the spectrum of registered genetic tests.
To stay up-to-date about NCBI staff at AMP 2018 follow us on Twitter at @NCBI_Clinical and @NCBI. For more information about other NCBI presentations at AMP, check the Conferences and Presentations page.