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.
The Gene Curation Coalition (GenCC) brings seven initiatives together to tackle key needs in the curation of links between genes and disease.
Today we introduce the Quality Sequence Minimum, (QSM) a simple, convenient shorthand for communicating the quality of a genetic test
A roundup of some of the recent TGMIFriday posts about phenotyping.
In this interview, TGMI team member Dominic McMullan shares his vision of connecting all diagnostic grade genetics data in a global resource.
Direct-to-consumer genetic testing is now a reality. Should we be worried? And if so, what about?
Sharing data is essential for genetic medicine to be successful. But how do we, could we and should we make data accessible?
Rare Disease Day represents not just one single group of diseases, but a large number of vastly different conditions, that each affect a small number of people. All of them are part of the rare disease community, but their individual needs are diverse.
TGMI team member David FitzPatrick talks about the importance of robust evidence for gene-disease associations, and the need for systematic phenotype descriptions.
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.