Genetics Working Party
Genetics WP - Newsletter December 2018
by Anne Puel
Dear colleagues and friends,
The WES- and WGS-based genetic progress has considerably improved the management of patients with PIDs worldwide, including of course in Europe where the field has been extraordinarily active for several decades, largely thanks to the ESID. Their diagnosis has been greatly facilitated, as well as the genetic counseling of their families. More rational therapeutic decisions have been made thanks to the description of new PIDs and their diagnosis in a greater number of patients. Again, the ESID has played a key role in this development.
I aim at further developing communication, sharing data and tools, to pursue the identification and characterization of PIDs and facilitate patient diagnosis and care. To that end, it will be essential to identify the laboratories and centers performing PID genetic research and/or diagnosis and to inform the Society via the ESID website. This should ease the flow of information between the different centers and help ESID members to identify such laboratories. With the fast-growing number of PIDs, soon over 500, we need to split the work smartly, for research and for diagnosis.
I also aim at developing or implementing a database of known or recently discovered PIDs, in terms of genotype, phenotype, with a link to the lead laboratories. This should enhance interactions between clinicians, researchers and centers for a better and faster diagnosis of PID patients. This should also form the basis of ESID-based medical and scientific surveys that will ultimately benefit the patients. The creation and communication of genetic knowledge is an essential mission of the ESID and the Genetics Working Party should take the lead in this endeavor.
Finally, one should strive to enhance exchanges regarding next-generation sequencing experiences, data interpretation, and functional characterization of potential disease-causing variants. This would strongly help ESID members for their own projects and ultimately help patient diagnosis and care. Altogether, these data should progressively pave the way to develop consensus statement for genetic diagnosis of PIDs. Of course, this needs close collaboration with the ESID Registry and clinical WPs as well as with as many as possible networks involved in PIDs.
Chair ESID Working Party Genetics