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.
We need to harness technology, global connectivity and patient-power to deliver a massive expansion in phenotyping.
In casual language, people often talk about "having the gene for a disease". This isn't correct - we all have those genes - so why does this expression exist, and how do we avoid it?
Talks at this year’s Festival of Genomics event in London emphasised a patient-centered approach to genetic medicine.
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.
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?
Confirmation bias, finding what you are looking for, causes errors and harm in genetic medicine. What can we do about it?
Genetic medicine requires reliable information about genotypes and phenotypes. We have done well on genotypes over the last decade. But we must put equal focus on phenotypes.
The TGMI would like to wish you all the best for the coming year, and we look forward to a productive and collaborative 2018.
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
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.
Not all issues in genetic medicine are scientific or medical challenges. Sometimes it’s all about communication and the way we share information.
Genetic counsellor Jennifer Wiggings works with breast and ovarian cancer patients. In the last 10-15 years, the conversations she has with them have changed.
Fiona Cunningham talks about tools for annotating variation data, and the importance of having good foundational resources for use in genetic medicine.
It is recommended that VUS should not be used in clinical decision-making. But is it always so simple?
Searching the scientific literature for gene–disease information is very challenging. Why? and what can we do about it?
The mismanagement of Variants of Uncertain Significance (VUS) is a big problem in genetic medicine. Causing harms and lawsuits. Why does it occur?
Open access gives patients access to scientific and medical articles.
Shawn Yost talks about his role on the TGMI team, and the importance of standardising transcripts and annotations.
Genetic counselling has an interesting history. Find out where it all started, and why it is called genetic counselling.
Sharing genetic information is essential for the success of genetic medicine. But the ultimate goal is sharing meaning.