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


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



Marton Munz
In this interview, Márton Münz talks about the importance of data science for genetic medicine, and shares how a big life event brought him from physics to genetics.

The TGMI Team – Márton Münz







Variant profiling in practice is improving variant interpretation. Here, it helps distinguish likely benign variants from variants of uncertain significance.

Variant profiling in practice


TGMIFriday summer favourites
Catch up with some #TGMIFriday popular blog posts discussing the challenges and opportunities in genetic medicine today.

#TGMIFriday favourites


Standardisation of processes and education of end users are key to making genetic medicine work, as TGMI team member Shazia Mahamdallie explains in this interview.

The TGMI Team – Shazia Mahamdallie