Tag: Genetic Testing Registry (GTR)

NIH Genetic Testing Registry (GTR®) Annual Review Process Ensures High-Quality Data

Do you rely on high-quality and up-to-date genetic test information from the NIH Genetic Testing Registry (GTR)? Laboratories are expected to regularly review their tests, lab contacts, and license data for accuracy. GTR is making the annual review process for submitters easier and more intuitive to ensure we provide you the most current information.

Attention submitters!

To perform an annual review, you can log into the GTR Submission Portal and click the “Perform Annual Review” button. Learn how to get started and view our updated annual review process policies. Continue reading “NIH Genetic Testing Registry (GTR®) Annual Review Process Ensures High-Quality Data” →

Easy Access to Genetic Test Information with the NIH Genetic Testing Registry (GTR)

We have made some exciting updates to the NIH Genetic Testing Registry (GTR) to give you a more modern, easier-to-navigate display of genetic test information. We encourage you to check out our latest improvements and let us know what you think.

What’s new?

Continue reading “Easy Access to Genetic Test Information with the NIH Genetic Testing Registry (GTR)” →

MedGen Users, We Want Your Feedback!

Do you use NCBI’s MedGen? If so, then you probably know it’s NCBI’s one-stop-shop for genetic phenotype information. If you are a healthcare provider, genetic professional, researcher, or anyone who uses MedGen, we want to hear from you to help us make this resource better meet your needs!

We want to know:

How you currently use MedGen
How we can make MedGen data more useful to you

How to provide feedback

Continue reading “MedGen Users, We Want Your Feedback!” →

Using NCBI Resources for Genotype-Based Medication Optimization

NCBI offers a variety of clinical genetic resources to help you research, diagnose, and treat diseases and conditions. You can quickly and easily access our data and tools through the Medical Genetics and Human Variation page of the NCBI website.

How and why should you use our resources? Consider the example below.

Your patient is a 58-year-old woman who has been diagnosed with Acute Coronary Syndrome, scheduled for an angioplasty, and she will need to take clopidogrel for at least three months. She mentions that her father died of a stroke while taking the drug and is concerned. You look into pharmacogenetic influences on clopidogrel response and use the results of your patient’s genetic test to determine if a change in the prescription is needed. Continue reading “Using NCBI Resources for Genotype-Based Medication Optimization” →

Improvements to the Genetic Testing Registry (GTR®) Submission Portal

Thank you for your feedback!

You asked, we listened! In response to your feedback, we made improvements to the Genetic Testing Registry (GTR®) Submission Portal to streamline your submission experience.

What’s new?

Redesigned homepage for a more intuitive submission experience
New test submission page where you can add new tests, download Excel templates, upload spreadsheets, and track API submissions
One-click download of your clinical test data right from the home page
Improved navigation within the GTR submission site making it easier to move between the home page, lab record, test management tool, and test submission page
Quick access to the ‘Groups’ feature where you can manage permissions for laboratory staff who can submit data for your lab

Continue reading “Improvements to the Genetic Testing Registry (GTR®) Submission Portal” →

New! NIH Genetic Testing Registry (GTR) API

Want to automate submitting genetic test-related information to the NIH Genetic Testing Registry? Now you can! In September 2022, GTR released a submission API that supports fully automated submission of test data to GTR. The new API is one more way, in addition to the Submission Portal wizard and bulk submission using a spreadsheet template, to submit test data to GTR.

Why an API?

An API will allow you to programmatically generate and deposit your latest information into GTR, especially for a large volume of genetic tests. Our customers rely on your up-to-date information to make accurate decisions for their patients. The API creates a one-time setup, multiple-time reuse pathway for timely updates.

How to get started

To start the new submission process:

If you haven’t already, register your lab with GTR
Request an API service account from the GTR staff
Once we’ve established your service account, create an API key

Continue reading “New! NIH Genetic Testing Registry (GTR) API” →

Using NCBI resources to research, detect, and treat genetic phenotypes

Clinical Genetics Information at Your Fingertips

NCBI offers a portfolio of medical genetics resources to help you research, diagnose, and treat diseases and conditions. You can easily access our data and tools through the Medical Genetics and Human Variation page of the NCBI website. We also encourage you to join our community of thousands of submitters and share your germline and/or somatic data to advance discovery and optimize clinical care.

How and why should you use our resources? Consider the example below.

Your patient is a 40-year-old mother of two presenting with changes in bathroom habits, bleeding, and belly pain. She has a medical history of colonic polyps. Her family history reveals that her maternal grandmother, mother and uncle had several forms of cancers including colon, breast, and endometrium.

Continue reading “Using NCBI resources to research, detect, and treat genetic phenotypes” →

Identify conditions in ClinVar and Genetic Testing Registry with MONDO IDs

In support of data sharing efforts, NCBI’s ClinVar and Genetic Testing Registry (GTR) now accept submissions that use MONDO IDs to identify conditions.

To submit to ClinVar, download our updated spreadsheet templates and enter MONDO as the Condition ID type. Note: The updated template is necessary only if you identify the condition by MONDO ID, not by name.

GTR submitters can use MONDO IDs to identify phenotypes in the clinical tests submitted via spreadsheet, and Mondo phenotype names in both clinical and research test submissions.

Continue reading →

NCBI at the ACMG meeting in Seattle next week (April 2-6, 2019)

In about a week, NCBI staff will join GeneReviews® on their home turf, Seattle, at the Annual Clinical Genetics Meeting hosted by the American College of Medical Genetics and Genomics (ACMG). While there we will have an exhibit booth (#531) where you can meet our staff, get answers to your questions, and pick-up informative handouts on our various resources for clinical practice.

Also, be sure to visit our two posters on Friday, April 5 from 10:30 AM to 12 PM.

Continue reading “NCBI at the ACMG meeting in Seattle next week (April 2-6, 2019)” →

MedGen: Your search engine for human medical genetics

MedGen is a free, comprehensive resource for one-stop access to essential information on phenotypic health topics related to medical genetics as collected from established high-quality sources. It integrates terminology from multiple primary ontologies (or nomenclatures) to facilitate standardization and more accurate results from search queries.

Some things you can do in MedGen:

Continue reading “MedGen: Your search engine for human medical genetics” →