Professor Lyn Chitty made a Dame in New Year's Honours

Professor Lyn Chitty has been based at Great Ormond Street Hospital (GOSH) and University College London Great Ormond Street Institute of Child Health (UCL GOS ICH) since the 1980s and is the UK’s only Professor of Genetics and Fetal Medicine. She has pioneered research into rapid and non-invasive prenatal diagnosis, offering families lower risk options to find out about the health of their unborn child.

She is an expert in prenatal diagnosis, the ultrasound screening of fetal abnormalities, specifically fetal skeletal abnormalities, and was responsible for the creation of the fetal size standards which have been used throughout the UK and beyond.

Her current research focus at UCL GOS ICH is prenatal genetic diagnosis, based on analysis of cell-free DNA in maternal blood, and she led the NIHR (National Institute for Health and Care Research)-funded programme that developed the standards for routine implementation of this exciting new technology.

She is Deputy Director of the NIHR GOSH Biomedical Research Centre, where she also leads the Genomic Medicine theme. Through this theme, interdisciplinary teams from across GOSH, UCL GOS ICH and national partners of the Paediatric Excellence Initiative use advances in genomic technologies and methods to support effective diagnosis both before and after birth, in order to identify the underlying cause of some childhood conditions and thereby improve care to reduce the burden of disease.

Professor Chitty’s work as Medical Director of the North Thames Genomics Laboratory Hub (GLH) based at GOSH has spearheaded the provision of genomic and genetic testing in the region, including the start of whole genome sequencing, as part of the new Genomic Medicine Service in the NHS. Since 2020, genomic testing in the NHS is being provided through this single national testing network, built on consolidating and developing our existing genetic testing laboratory services and the North Thames Genomic Medicine Service has already improved diagnosis and prognosis for children living with many rare conditions.

Under the leadership of Professor Chitty the North Thames Genomic Medicine Centre recruited 28% (>10,000 people and their relatives) of all the rare disease participants in the 100,000 genome project – a major landmark study into genomics in the UK (working with our NT GMC partners Moorfields, UCLH, Barts Health, London North West, Royal National Orthopaedic Hospital and the Royal Free Hospital).

While Professor Chitty has many research accolades and much clinical experience, she is also a champion of patient and public involvement and ensuring informed consent, regularly including patients and their representatives in her research.

During the 100,000 genome project, she and her team realised that many members of the public were unaware of what their genome was and how it was important for research. They took the opportunity of this major landmark study to examine how genomic sequencing was being delivered in the UK, from start to finish, with the patient point-of-view in mind.

By speaking to patients who have received whole genome sequencing to understand and improve the consent and recruitment process, they wanted to explore the real-world experiences of genomic sequencing and work out where the barriers and limitations to recruitment, consent and implementation may be.

By working closely with the GOSH Young Persons’ Advisory Group for research (YPAG), and visiting local schools, her team developed animations that answered questions that went to the heart of the queries and concerns of young people – Eg. what is a genome? What is genomic sequencing? What are the limitations and uncertainties of genome sequencing?

Her team also worked with health care professionals to understand what they needed in terms of education and training, to be better equipped to explain this complex test to their patients so that they can give truly informed consent.