Championing recruitment to the 100,000 Genomes Project

Mehul Dattani - NTGMCThe Endocrinology Service at Great Ormond Street Hospital (GOSH) and University College London Hospitals (UCLH) is an extremely busy service that is predominantly outpatient based. The service provides care to a large number of patients with rare congenital disorders; the aetiology (causation) of the majority of these disorders is unknown. The major disorders that we look after are disorders of growth including complex forms of hypopituitarism, disorders of adrenal function, disorders of sex development, disorders of thyroid function, disorders of reproductive function, disorders of the pancreas and insulin secretion, and disorders of calcium homeostasis.

Investigators within the department are highly research active and have successfully identified a number of genetic causes underlying these disorders. However, overall, to date, only 10-25% of disorders have been explained in terms of aetiology.

Parents of our patients are extremely keen to understand their child’s condition, and in particular, what caused it. They often live in fear and with guilt that they may in some way have contributed to the causation of the condition. They also have a significant anxiety with respect to recurrence of the condition in future pregnancies, and even in future generations. So, the identification of an aetiological basis to the condition might allay their fears and mitigate their anxiety.

Importantly, we hope that the identification of a molecular pathogenesis to the condition using the 100,000 Genomes Project will allow an improved understanding of the conditions, the likely prognosis in terms of lifespan, associated morbidities and disease progression, and perhaps of greatest relevance to the patients and their families, novel therapies for these often highly devastating conditions.

This is why we have encouraged recruitment to the project and hope to continue to do so, helped by the families who are under our care and who want not only the best healthcare for their children, but also help future patients with similar disorders.

Professor Mehul Dattani is currently Head of Paediatric Endocrinology at GOSH, UCLH and UCL Institute of Child Health (ICH). He has an active clinical practice encompassing all areas of paediatric and adolescent endocrinology at GOSH and UCLH.