Blog


GEMSTAR is a suite of standards, tools and resources that TGMI has developed to evaluate, optimise and benchmark genetic testing. We hope GEMSTAR will help to make genetic testing and genetic medicine safer and more effective.

GEMSTAR – making genetic testing safer



choice of many types of NGS tests
The importance of genetic testing lies in its potential to provide health care professionals with an understanding of the genetic basis of why an individual’s signs and symptoms occur, which may inform preventive actions or treatment.

Know your NGS test before you order it



false positives false negatives
A genetic test aims to identify DNA variants. How good are genetic tests at this? How good are we at evaluating it?

How good is genetic testing?



INterview with BRCA2
Today the BRCA2 gene tells us a bit about herself, in our new interviews with genes series

An interview with BRCA2



Just a few decades ago, the concept of investigating someone’s genes to determine whether they were predisposed to a particular disease was still unheard of. This post describes the development of the very first DNA-based genetic test for a hereditary disease, the Huntington’s Disease test.

The first DNA-based genetic test: Huntington’s Disease






James Ware
In this interview, James Ware shares why he's excited about the increasing amounts of available genetic data, and the strengths of the TGMI as a collaboration between different fields.

The TGMI team – James Ware




The Gene Curation Coalition (GenCC) brings seven initiatives together to tackle key needs in the curation of links between genes and disease.

The Gene Curation Coalition





Dominic McMullan
In this interview, TGMI team member Dominic McMullan shares his vision of connecting all diagnostic grade genetics data in a global resource.

The TGMI Team – Dominic McMullan



Sharing data is essential for genetic medicine to be successful. But how do we, could we and should we make data accessible?

Making data accessible




TGMI team member David FitzPatrick talks about the importance of robust evidence for gene-disease associations, and the need for systematic phenotype descriptions.

The TGMI Team – David FitzPatrick