Genetic Alliance UK launches a UK patient charter for newborn screening

Genetic Alliance UK has published its report on the current landscape and future developments in newborn bloodspot screening, Fixing the present, building for the future—newborn screening for rare conditions.

The charter highlights a shortfall in newborn screening for rare conditions in the UK with the aim of improving outcomes for people with rare diseases.

One in 17 people will be affected by a rare condition at some point in their lives. Rare diseases can have a severe impact on young children and their families, and the search for a diagnosis can be a prolonged and stressful process.

Newborn bloodspot screening enables the identification of a number of rare conditions at birth, allowing early planning and provision of the appropriate treatment to minimise the impact of the condition.

However, the UK lags behind other high-income countries in terms of the number of conditions screened for at birth. The NHS screens for just 11 conditions in newborn babies, compared with 43 in Italy and 59 in the US, representing many possible missed opportunities for people to benefit from earlier detection and management of a rare condition.

Increasing the number of conditions screened for at birth has the potential to improve the lives of individuals with rare diseases and provide families with timely information on the future health of their children. Extension of screening programmes for some rare conditions will require very few changes in current laboratory procedures: the report found that at least 13 additional conditions could have been detected from the tests already routinely conducted as part of the screening programme.