Table 5.

Healthcare professionals’ recommendations on improvements to the pilot newborn screening program spinal muscular atrophy, with illustrative quotes.

Theme	Subtheme	Illustrative quotes
ESTABLISHING COLLABORATIVE NETWORKS AND DEFINING REFERRAL PATHWAYS	Accessing specialist resources	Effective communication and collaboration between specialists and primary care clinicians is important to provide patient and family centred care at the first appointment. Telehealth for rural/remote patients can help in this (clinician). Rapid referral systems to specialist centres to undertake diagnostic testing and plan treatment facilitates good outcomes for those with a potential for early disease onset (clinician).
	Establishing and supporting pathways between newborn screening laboratories and health services	[Newborn screening] laboratories need clear cut guidelines on the clinical referral pathway whilst remaining flexible enough to facilitate a streamlined pathway for the newborn (clinician). Referral pathways need to be actively supported by a clinical genetics service so that results can be translated with a context (clinician). Coordination and communication between clinicians and laboratories were important, especially for unexpected results and to ensure rapid results (allied health professional).
DEVELOPING EXPERTISE OUTSIDE SPECIALIST CENTRES	Facilitating ongoing professional development	Having access to specialist expertise is great but as non-experts we also need maintain up to date information on this condition, especially as the evidence is changing so quickly. This way we can facilitate appropriate follow-up closer to home (clinician).
	Access to educational tools	We need to develop educational tools so that HCPs outside specialist centres feel supported in providing information and managing these children closer to home. This will help as we expand the NBS program out of the pilot phase (clinician).
OPTIMISING HEALTH PROVIDER COMMUNCATION	Accessing written resources	I think you need a written resource, perhaps in a range of languages so all parents are on the same page (clinician). It's difficult giving enough information without bombarding the parent. Access to an online resource may perhaps help them absorb the details and options at their own pace (allied health professional).
MANAGING COMPLEX PRESENTATIONS	Utilizing the expertise of the multidisciplinary team to guide decision-making	Having a multidisciplinary perspective of care was useful for me and for families. I think it provided both with an emotional and physical presence of support necessary following early diagnosis (allied health professional). Working as a team really helped me. Team discussions prior to seeing the family helped set goals of care (allied health professional). Teamwork/support from all disciplines helps overcome barriers where there is uncertainty as to prognosis (clinician).