Disclosure of Duchenne muscular dystrophy after newborn screening.

Breaking the news about an untreatable disease is always difficult. Every professional involved in this activity will be aware of shortcomings in their practice, but it is possible to develop better practices. We report on a protocol developed during the first four years of the evaluation of a newborn screening programme. Although there may be additional constraints in other areas of medical practice, the underlying principles could be more generally applied. Newborn screening for Duchenne muscular dystrophy (DMD) was introduced into Wales in 1990. l DMD is a sex linked disease causing progressive muscle wasting. Boys often show signs of muscle deterioration around 3 to 4 years; they are wheelchair bound by 8-12 years, and most boys die in their second or third decade. Newborn screening has been possible since 1975, but has not been widely practised because the disease is untreatable, and there has been uncertainty about the effects on the family of such an early diagnosis. The potential benefits include the avoidance of distressing diagnostic delays, enabling the family to plan for the future in practical ways, including choice in future pregnancies, and the offer of physiotherapy at an early stage. The research team, aware that newborn screening for DMD did not fit the traditional criteria for screening, introduced the programme as an 'opt-in' test on the basis of informed parental consent. Within two to three days of the delivery, the parents of newborn boys are given an information leaflet about the newborn screening programme for DMD. This emphasises the optional nature of this test because the condition is serious and incurable. The timing of disclosure of the results to families is not routinely mentioned to families at this stage. In addition, a psychosocial evaluation was set up from the start of the programme to assess the impact of screening on families, and a protocol was drawn up for health professionals with guidance for handling a positive result (see table 1).