Table 3.

Health care professionals perceived successes and challenges associated with newborn screening for spinal muscular atrophy, with illustrative quotes.

Successes
Theme	Illustrative quotes
Early diagnosis and implementing intervention strategies	Children can be treated as early as possible to produce the best possible outcomes… [NBS] allows us to intervene at the point that makes the most difference to the child (clinician). Early diagnosis, education and initiation of treatment has a dramatic effect on outcome. This can be achieved through NBS (clinician). We recognized evolution of symptoms in some neonates with 2 SMN2 copies while treatment was being initiated in the first four weeks. The times-scale to initiate treatment is best achieved through NBS and the challenge is to establish models of care to facilitate this (clinician). Through NBS, we provide treatment early and parents do not have to walk the journey of misdiagnosis or false reassurance when they have concerns for their baby (allied health professional).
Equitable diagnosis and accessing health resources, within a personalized model of care	Simultaneous provision of quality care at personalized and population level. I recognized differences in sociodemographic characteristics, parental reactions and information/support needs especially for rural/remote families (clinician). Equal opportunity for families to gain diagnosis that is independent from the expertise of staff and location. Rural hospitals participating in the NBS allows families the safe access to medical results, comparable to metropolitan based families (allied health professional).
Challenges
Managing the timing of information provision, assessment, and intervention	Although the treatment is so time critical, giving parents the time to process the diagnosis is important (clinician). There is a need for very rapid education [for parents] in genetics and you have to develop trust with the family very quickly, in order to intervene quickly enough (clinician).
Understanding, translating and relating unexpected findings	The equivocal genetic result was very difficult for the family and for us. I think the process for following up on such unexpected results needs to be streamlined (clinician). It can be difficult managing parents’ feelings when an unexpected result arises (allied health professional).
Managing uncertainty associated with using predictive screening tests	There is uncertainty for infants with >3 SMN2 copy numbers – families will respond differently to this, so a provision of personalized care is important (clinician). It's a challenge (for us and the families) to predict exactly how a baby will be with the screen result. Living with this uncertainty can be difficult. Sometimes families can't see the advantage in treating as their baby has no visible symptoms of disease (allied health professional). It's a challenge to inform families of a diagnosis when time of onset [of disease] may be unclear especially as many may not develop symptoms for some time (clinician).