Coming of age and facing a bright future

Published 03 July 2018

Karen Sermon, a former Chair of the PGD Consortium and of ESHRE's SIG Reproductive Genetics, looks back over 20 years of the Consortium's history and forward to what lies ahead in this fast-moving field.

Late last year the ESHRE PGD Consortium celebrated its 20th birthday with an excellent Campus symposium. It was one of those events where, years later, people will still say: “Were you there?” And, if you weren’t, you’re not in the know.

Thanks to the tender care of many parents, most of them mothers, the Consortium is now an ambitious youngster ready to take on the challenges of adult life. As befits the transition from puberty to adulthood the PGD Consortium even changed its name to PGT Consortium (note the T for testing). Hundred and eighty centres are now a member, 86 of which are from European countries but with a consistent number from the rest of the world. Fifty-eight of these actively participate in providing their data.
The chair of the Consortium, Martine De Rycke, presented the latest results on Monday as collected with the spanking new database. Fifty-eight centres have submitted over 4605 cycles with 40% of cycles for monogenic diseases, 40% for aneuploidy screening, and 14% for chromosomal structural rearrangements. As expected, most of the biopsies were at the blastocyst stage (55%) while 37% were at the cleavage stage, although this is the first year that the number of blastocyst biopsies exceeds cleavage stage biopsies. New technologies such as arrays or next generation sequencing are now used in more than half of the cycles.

Of course, a few glitches in the database entry popped up during that first year but they were easily fixed and ESHRE has committed to the continued support both for the maintenance of the database and help for all of the 58 centres submitting data in, for instance, automatically transferring their data from their own databases to the Consortium.

Another longstanding role of the Consortium has been to establish minimal standards and to promote best practice. This is translated firstly in the development of guidelines. Two sets were published previously, one in 2005 and an update in 2010. It is clear that, with the rapid pace that technologies are emerging and changing the way we do PGD, new guidelines are in dire need. ESHRE has thoroughly professionalised the way guidelines are put together, and now provide extensive support for the different specialty groups in writing guidelines. The PGD Consortium will now put together four guideline documents for publication in early 2019: one on how to organise a PGT centre, one on PGT-M (for monogenic diseases), one on PGT-SR (for structural rearrangements), and one on PGT-A (for aneuploidy screening). The selection of experts has been completed, and the guideline on PGT centre organisation is nearly completed.

A second way that the Consortium assures standards is by providing quality assessment schemes, such as the EQA schemes. Numerous other activities, such as ESHRE Campus meetings, webinars, such as the one on blastocyst biopsy, and database training sessions ensure that the PGD Consortium members form a tightly knit family with a common aim.

Having cradled the Consortium at its birth, having nursed it during the first years and seeing it grow to its current adulthood has been a wonderful journey for me - although not devoid of sleepless nights and huge rows as customary when raising children. We have seen PGT change year after year after the introduction of ever more accurate and efficient technology, with ever better standards of care for our patients. It will be a privilege to further follow this young Consortium into full adulthood and fulfil its potential in service of the PGT community and their patients.