The benefits of newborn screening (NBS) for spinal muscular atrophy (SMA) outweigh its disadvantages and challenges, according to a survey of parents and healthcare providers of screen-positive newborns in Australia.
Notably, both groups supported the implementation of a newborn screening program, as well as its equal access across the country. They also pointed out areas of unmet need such as parent empowerment, access to specialist care, expertise outside specialist centers, and prenatal screening.
These findings and recommendations by stakeholders may help inform policy decisions regarding the implementation of population-wide newborn screening. They also may maximize the sustainability and benefits of the program for those directly affected.
The study, “‘We needed this’: perspectives of parents and healthcare professionals involved in a pilot newborn screening program for spinal muscular atrophy,” was published in the journal EClinicalMedicine, by The Lancet.
SMA is the most common genetic cause of death in infants and children, with an estimated frequency of between 1 in every 6,000 and 1 in every 11,000 births. It is characterized by the progressive loss of motor neurons, the specialized nerve cells that control voluntary muscle movements, leading to muscle weakness and atrophy.
The disease is caused by mutations in both copies of the SMN1 gene. These mutations impair the production of a protein essential for motor neuron and muscle health called SMN. The existence of a second SMN gene, SMN2, partly compensates for the loss of SMN1-produced SMN. Typically, the more SMN2 gene copies a person has, the less severe the disease.
The approval of the first SMA treatment — Biogen’s Spinraza — in late 2016 and the proven importance of early detection and treatment in preventing lifelong disability “prompted international consensus opinions that NBS for SMA should be established to enable early diagnosis, clinical decision-making and treatment, thus minimizing the extent of irreversible motor neuron loss,” the researchers wrote.
“However, perspectives of parents and healthcare professionals (HCPs) involved in such programs are largely unknown,” the researchers wrote, adding that such information may be useful “to inform best clinical practice and optimize clinical translation of new genomic technologies and NBS services for SMA and other rare diseases world-wide.”
Researchers in Australia now have now assessed the perceptions of parents and healthcare providers of newborns testing positive in an NBS pilot program for SMA. It ran from August 2018 to July 2020 in two Australian states that account for one-third of all births nationally.
During the two-year program, 202,388 infants were screened for SMA. The perceptions and recommendations for service improvement of 29 parents and 15 healthcare providers affected by a positive result in 18 newborns were assessed and collected via questionnaires.
A majority of screen-positive newborns were likely to develop SMA type 1 (58.8%), a severe form of the disease, though none had developed any symptoms at the time of the questionnaires (61%).
The results showed that all parents — including those who opted not to treat or to first monitor for symptom onset — were satisfied with the screening program and willing to participate in future programs.
“Importantly, 21/29 (72%) parents spontaneously advocated for equitable access to NBS for SMA across Australia,” the researchers wrote.
The parents’ perceived benefits of taking part in the program included cherishing their child and family, early access to management options that may lead to better clinical outcomes, and curtailing the diagnostic journey.
In addition to early diagnosis and treatment, equal opportunities for families to gain diagnosis and access to health resources, regardless of the expertise of staff and location, also were reported by healthcare providers as successes of the program.
No parent recalled information relating to screening for a neuromuscular condition and 45% said that receiving disease-specific information before screening could have reduced the psychological distress associated with a screen-positive result.
Also, nine (31%) parents described a false sense of reassurance because they had normal results in prenatal/preconception testing.
Receiving a screen-positive result was reported by parents to increase their fear for the future of their child, and worries about the potential for stigmatization by the community.
While a positive result caused psychological distress in all parents, their quality of life, as assessed with a validated questionnaire, was significantly improved from the time of diagnosis to six months later.
This was consistent with previous studies reporting a temporary distress associated with positive NBS results for other severe disorders. However, further studies are needed to assess longer-term emotional impacts, the team noted.
Psychological distress “may be managed by targeted psychosocial support, information provision and a personalized model of care together strengthening healthcare systems,” the researchers wrote.
Given the time-critical motor neuron loss in SMA, healthcare providers reported feelings of pressure to simultaneously confirm a diagnosis, share results with the family, evaluate the newborn, and initiate a therapeutic pathway. About 40% also noted difficulties in communicating the result’s uncertainty regarding disease onset and severity to parents.
Both groups described a range of recommendations to address unmet needs, which centered around empowering parents, accelerating access to specialist care, and improving access to preconception and prenatal testing for SMA.
“Parents emphasized the requirement for a robust model of information provision, advocating a paced and individualized approach to fit their needs, alongside multimedia resources utilized as adjuncts to health provider communication,” the researchers wrote.
A personalized model of care was advocated by healthcare providers and valued by parents, regardless of treatment avenue pursued, which is consistent with NBS directives advocating for “a balance between protecting a population’s health and acting in the best interests of the individual,” they added.
“Regulation surrounding referral pathways between NBS, specialist and local health services are essential to provide streamlined access for the newborn and their family to best practice, whilst simultaneously supporting HCPs to facilitate this process,” the team wrote.
“Findings from this study provide a unique foundation from which to ensure that real-world implementation of NBS programs for SMA minimize harm, whilst maximizing benefits for screen-positive newborns and their families,” the researchers concluded.
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