Launch. This week, the Epilepsy Genetics Initiative (EGI) was launched. EGI was founded by Citizens United for Research in Epilepsy (CURE) and represents a large database for diagnostic and research exomes that will guarantee regular re-analysis of exome data, which is particularly relevant for the large number of exomes that we think are negative. Here is a brief blog post why all exomes should eventually find their way into EGI.
The negative exome. There is vast promise in diagnostic exome sequencing for undiagnosed epilepsies or other neurodevelopmental disorders, and the field is constantly shifting. We are constantly discovering novel genes that might have been missed or simply not have been appreciated as such in exome data only 6 months ago. On the other hand, we have entered the era or “gene retirement” and we start taking genes like EFHC1, CACNA1H, SCN9A, or CLCN2 off our list. How can we stay on top of whether an exome has been analyzed with sufficient scrutiny? One way of doing this is by making sure that the exome is looked at again, again, and again. And this is what EGI is going to do for us.
EGI. The EGI database will be housed at Columbia, and the exomes, which will be recruited from diagnostic laboratories all over the US and -hopefully- worldwide. In Philadelphia, we will be one of the recruitment sites for this unique project. Compare EGI to a radar in constant action – every exome will be re-analyzed and scrutinized every six months. And this is exactly what we need at this point to crack down on the number of unsolved exomes that haunt us in everyday practice.
Cognitive strain. Part of what we need to have performed through EGI taking away the cognitive strain of exome sequencing – it will simply become second nature to have our exomes housed in this database to be looked over again and again every six months, and it will be great to see our criteria on what we find grow more and more sophisticated, squeezing each and every drop of information out of exome data that we can possibly obtain. In the first few months, we will smooth out the recruitment process and develop the offer of EGI enrollment as a habit for every patient who undergoes sequencing. The habit has already started – two days ago, while preparing the admissions for the next day, was the first time that I used EGI on one of our regular sign outs – “[x] staff — [x] LTM — [x] Review AEDs — [x] Check EGI enrollment”.