Screening for a genetic disease is often seen as genetic screening in the world out there. It’s not, it’s case identification. Neonatal screening is case identification for management, like screening for non-genetic diseases. What we’re talking about here is screening for identifying carriers in order to inform them of risk, to allow them to manage their risk. Prof Bernadette Modell, Clinical Molecular Genetics in the UK c.1975–c.2000
Professor Bernadette Modell PhD FRCP FRCOG (b. 1935) undertook her first degree in zoology, predominantly in genetics and embryology, Oxford, 1955; followed by her doctoral research in developmental biology, Cambridge, 1959. She qualified in medicine at Cambridge and University College Hospital in 1964, aiming to investigate the application of genetic knowledge in medical practice. She subsequently worked at University College London and University College London Hospitals until her retirement in 2000, where her work focused on thalassaemia as an example of a common genetic disorder. She was involved in developing effective treatment for thalassaemia major and prevention of the disease through community information; population screening and genetic counselling; and methods for prenatal diagnosis – including the first trimester diagnosis by chorionic villus sampling and DNA analysis. In collaboration with the WHO she has helped to extend programmes for the treatment and prevention of haemoglobin disorders to many parts of the world. She is currently Emeritus Professor of Community Genetics at the UCL Centre for Health Informatics and Multiprofessional Education, where she works on the global epidemiology of congenital disorders, and developing informatics approaches to the provision of genetic information for communities. She is also Director of the WHO Collaborating Centre for Community Control of Hereditary Disorders.