Blog

Every Friday we post a blog on a topic related to genetic medicine. You can find our new posts on Twitter under the hashtag #TGMIFriday. You can also sign up to get our blog posts direct to your email inbox. Please contact us if you have any suggestions for topics we should address.

Blog






Grace Tiao talks about her work at the Broad Institute, as part of the methods development team for gnomAD, and shares her thoughts on genetic medicine.

The TGMI Team – Grace Tiao


We have become much better at making genetic diagnoses. But how good are we at answering the questions about prognosis that such diagnoses lead to? And how can we do better?

Prognosis not just diagnosis






#TGMIFriday in 2017
Looking back on the past year of #TGMIFriday, the most popular posts all talk about some of the basic issues that the TGMI is trying to address

A year in #TGMIFriday posts



Matthew Hurles
TGMI team member Matthew Hurles talks about his involvement in the DDD, DECIPHER and TGMI, and the problems that still need to be solved in genetic medicine.

The TGMI Team – Matthew Hurles


communication
Not all issues in genetic medicine are scientific or medical challenges. Sometimes it’s all about communication and the way we share information.

Communication in genetic medicine




Fiona Cunningham talks about tools for annotating variation data, and the importance of having good foundational resources for use in genetic medicine.

The TGMI Team – Fiona Cunningham





VUS - very unhelpful statement
The mismanagement of Variants of Uncertain Significance (VUS) is a big problem in genetic medicine. Causing harms and lawsuits. Why does it occur?

VUS – Very Unhelpful Statement



Shawn Yost talks about his role on the TGMI team, and the importance of standardising transcripts and annotations.

The TGMI Team – Shawn Yost




information sharing
Sharing genetic information is essential for the success of genetic medicine. But the ultimate goal is sharing meaning.

Sharing genetic information