Ataxia Telangiectasia (A-T) is a severe DNA repair disorder that leads to neurodegeneration and a variable immunodeficiency. A-T is one of the incidental findings that accompanies newborn screening for SCID, leading to an early diagnosis of A-T in a pre-symptomatic stage. While some countries embrace all incidental findings, the current policy in the Netherlands on reporting untreatable incidental findings is more conservative. We present a parents perspective on the differing advantages and disadvantages of early and late diagnosis of A-T.
A semi-structured questionnaire was developed and send to 4000 parents of healthy newborns who participated in the Dutch SONNET-study (pilot study for newborn screening for SCID). The questionnaire consisted of open-ended and scale questions on advantages and disadvantages of early and late diagnosis of A-T.
The vast majority of parents favoured early diagnosis of A-T over late diagnosis. Main arguments were to avoid a long period of uncertainty prior to diagnosis and to ensure the most optimal clinical care from the start. Parents who favoured late diagnosis of A-T stated that early diagnosis would not lead to improved quality of life and preferred to enjoy the so-called ‘golden years’ of their child.
Although the current policy in the Netherlands is not to report untreatable incidental findings, unless it would create a clear health advantage, the majority of parents of healthy newborns are in favour of an early A-T diagnosis in the pre-symptomatic phase of the disease. This knowledge might lead to the revision of the current newborn screening protocol for SCID.