The PAGE (Prenatal Assessment of Genomes and Exomes) study analyses the genetic information of babies and parents where structural abnormalities became apparent during pregnancy. It is the first large UK-based study (1000 families) analysing in detail every single gene in our DNA.
The next generation sequencing technology used in this study provides much more detailed data than the current gold-standard prenatal diagnostics; the exact genomic sequence will be determined so that even single nucleotide variations can be detected. The additional information will help to acquire new knowledge about the genetic variation causing the observed abnormalities. The new insights gained by this study will be used to improve diagnostic methods, allowing better genetics-derived prognoses and more informed parental counselling as well as future management of pregnancy and childbirth.
The impact of the new diagnostic technologies will also be evaluated with regards to the family experience (social science), ethics and health economics.
Experts from research centres, NHS fetal medicine units, diagnostic laboratories and a patient support charity have joined forces to form the PAGE consortium. This consortium consists of teams from the Wellcome Sanger Institute, Great Ormond Street Hospital (London), Birmingham Women's Hospital, Ethox Centre (Oxford), the University of Birmingham, the University of Cambridge and the charity ARC (Antenatal Results and Choices). Associated Fetal Medicine Clinics throughout the country are also actively supporting the study by recruiting families and collecting samples.
The PAGE project is funded by the Health Innovation Challenge Fund (HICF). HICF is a funding partnership between the Wellcome Trust and the Department of Health with the aim to support the creation of innovative healthcare technologies which will benefit patients in the NHS and beyond.
Please note, all centres are recruiting study participants from couples already booked with them for care.
Sequencing for the first 77 families was completed and the analysis of the data has been initiated.
Lead investigator Dr Matt Hurles was asked to speak at the charity Antenatal Results and Choices (ARC) biennial national conference for health care professionals in London on 21st September. The conference was entitled 'Screening expectations: The impact on women and professionals of advances in antenatal screening.' Matt joined a prestigious line up of speakers (including Prof Lyn Chitty and Prof Kypros Nicolaides for the afternoon session on prenatal genetic testing.
He was able to inform a capacity audience about the PAGE Study and its progress to date. Delegates included doctors, academics, specialist midwives, sonographers and genetic counsellors so it was a good opportunity to raise awareness of the work. The presentation evaluated well, attracting comments such as 'delivered a very challenging subject in a way that allowed good understanding', 'interesting and very thought-provoking' and 'great update - we provide samples to PAGE'.
The first year of the PAGE study has come to an end and we can report that we have made excellent progress throughout the year. We were able to exceed our year 1 milestone target for recruitment by >100%, with 212 families currently participating in the study. The target for sample processing was also exceeded by >50%, giving us a head start in our efforts towards meeting the milestones for year 2.
The progress was presented to our funders, the Wellcome Trust and the Department of Health (Health Innovation Challenge Fund) who confirmed that all year 1 milestones were successfully achieved.
The Wellcome Sanger Institute has received further shipments of DNA samples from both clinical centres. This is taking the total number to 77 families whose samples are currently going through the analysis pipeline.
A presentation on the PAGE study was well received at the Association for Clinical Genetic Science conference in Birmingham.
Last week the PAGE study has successfully met its first major recruitment milestone of 100 families.
Over the last few months we have been recruiting scientists and clinical staff for the PAGE team. Today the last vacant role has been filled by a new team member. Everyone is now in place to collect, prepare, process & analyse a steadily increasing number of samples.
Samples collected locally have been processed at NHS Diagnostic Laboratories to prepare the DNA for sequence analysis. Today the first batch of DNA samples has arrived at the Wellcome Sanger Institute where they will undergo detailed genetic analyses.
Three additional local recruitment centres have started recruiting families, the sample numbers for the study are steadily increasing.
Several local NHS recruitment centres have already been approved to join the PAGE project and are now able to offer families the opportunity to take part in the PAGE study. So far three local centres have started to recruit patients.
It has been a month since the PAGE study started on 1st Oct 2014. During this first month the first 12 families have consented to participate in the study.