Prenatal Assessment of Genomes and Exomes (PAGE)

The PAGE study is striving to gain a better understanding of genetic variants causing developmental problems during pregnancy. The ultimate aim is to improve prenatal diagnostics, allowing better genetics-derived prognoses and more informed parental counselling in the future.

Our PAGE 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 study analyses the genetic information of babies and parents where structural abnormalities were detected during pregnancy. It is the first large UK-based study (of 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. This 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.

All genomic data from exome and genome sequencing (BAM files and VCF files) and clinical data files will be available through the European Genome-phenome Archive (EGA) hosted by the European Bioinformatics Institute (EBI). These anonymised data will only be made available to researchers investigating genetic conditions of early development that manifest during pregnancy who commit to protecting the confidentiality and privacy of research participants. Variants in genes that are likely to cause or contribute to the observed fetal anomaly will also be linked to anonymised records in the DECIPHER web portal.

Contact

If you need help or have any queries, please contact us using the details below.

Sanger people

Photo of Professor Matthew Hurles, FMedSci, FRS

Professor Matthew Hurles, FMedSci, FRS

Head of Human Genetics and Senior Group Leader

External partners and funders

External

Great Ormond Street Hospital, London

Prof Lyn Chitty's team at Great Ormond Street Hospital (GOSH) provides expertise in the area of Fetal Medicine and prenatal diagnosis and they co-ordinate recruitment of families through a network of NHS Fetal Medicine Units (for the GOSH arm of the study). Study samples are anonymised at the North East Thames Regional Genetics Service Laboratory (NETRGL, part of GOSH), before the purified DNA is shipped to the Wellcome Sanger Institute for analysis.

External

Birmingham Women's Hospital

Prof Mark Kilby's and Dominic McMullan's teams at Birmingham Women's Hospital (BWH) provide expertise in the area of Fetal Medicine and prenatal diagnosis and they co-ordinate recruitment of families through a network of NHS Fetal Medicine Units (for the BWH arm of the study). Study samples are anonymised at the West Midlands Regional Genetics Laboratory (WMRGL, part of BWH), before the purified DNA is shipped to the Wellcome Sanger Institute for analysis.

External

University of Birmingham

The team at the University of Birmingham support the BWH team but also undertake research in the area of Social Science and Healtheconomics. This is also led by Prof Mark Kilby.

External

Ethox Centre, Oxford

Prof Mike Parker's team at the Ethox Centre provide Ethics advice for the consortium and carry out research on good ethical practice in prenatal genomic analyses.

External

University of Cambridge

Clinical Review of individual patient results is co-ordinated and overseen by Prof Eamonn Maher from the University of Cambridge.

External

Antenatal Results and Choices (ARC)

Jane Fisher from the charity Antenatal Results and Choices (ARC) provides valuable input from the patient's perspective.

External

Health Innovation Challenge Fund

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.