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Genetic testing aids newborn screening


Dr Jim Bonham

Fellow of the Royal College of Pathologists

Genetic testing offers new hope in newborn screening, but advances need to be tempered with caution, warns Dr Jim Bonham, Fellow of the Royal College of Pathologists.

Newborns in the UK are currently screened for a total of nine rare diseases including cystic fibrosis, congenital hypothyroidism, sickle cell disease and six inherited metabolic diseases. As technology advances and medical knowledge increases, the National Screening Committee is under increasing pressure to test for more disease.

Early screening is, undoubtedly a vital part of antenatal care and has played a key role in detecting and treating conditions early to prevent serious illness and even death. At present, a simple heel prick to extract blood from a five-day-old infant is all that’s needed to conduct bio-chemical tests to detect disease. With developments in genetic research, that same blood sample could also be used for genetic analysis to identify a wider range of diseases and to clarify the severity of those already tested for.

The advent of genetic testing allows us to refine existing processes and give much more information to parents about the severity of a disease.

“Limited genetic testing is already used in cases such as cystic fibrosis and recent funding from the Wellcome Trust will help us investigate its use for other diseases.” says Dr Bonham.

Whilst the applications for genetic testing are clearly visible, Dr Bonham warns against making it the first course of action. “If you identify a mutation you don’t know the significance of, there is the potential to do more harm than good,” he warns. “The danger is, that if you cast the net too wide, you start screening for conditions you don’t understand without any clear case definition.” There is a real concern that if more diseases are added to the list too soon, there will be an increase in the number diagnosed incorrectly, placing undue strain and on a family and their newborn child.

The current consensus is steering toward using genetic testing to define and clarify the result of a bio-chemical test more accurately. What’s also clear is that the medical profession want to ensure that information they provide to parents is clear and focused, so families are well informed and can source the right support and treatment.

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