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Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy
Alayne P Meyer1,2, Anne M Connolly2,3,4, Kathryn Vannatta3,5
1Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, United States.
Insights
Parents of children with spinal muscular atrophy (SMA) found gene therapy a preferred treatment but desired more information and support during newborn screening disclosure and initial clinic visits. Improved counseling is recommended.
Area of Science:
- Genetics
- Pediatrics
- Neurology
Background:
- Spinal muscular atrophy (SMA) is a genetic neurodegenerative disorder affecting infants and children.
- Newborn screening and gene replacement therapy (Onasemnogene abeparvovec-xioi) are now available in the US for SMA diagnosis and treatment.
Purpose of the Study:
- To evaluate parental experiences with SMA newborn screening and gene replacement therapy.
- To explore best practices for disclosure and counseling of families affected by SMA.
Main Methods:
- Semi-structured interviews with 32 parents.
- Online surveys completed by 79 parents of children diagnosed with SMA and treated with gene replacement therapy.
Main Results:
- Gene replacement therapy was the preferred treatment, though concerns about long-term efficacy and safety were noted.
- Newborn screening disclosure varied, with many parents desiring more information on treatment options.
- Most parents favored SMA inclusion on newborn screening, despite initial anxiety and difficulty processing complex information during clinic visits.
Conclusions:
- Recommendations are provided for improving newborn screening disclosure content.
- Adjustments to education and counseling during initial clinic visits are proposed.
- Parental mental health challenges following diagnosis and treatment decisions are highlighted.
Background:
Spinal muscular atrophy (SMA) is a genetic neurodegenerative disorder with onset predominantly in infants and children. In recent years, newborn screening and three treatments, including gene replacement therapy (Onasemnogene abeparvovec-xioi), have become available in the United States, aiding in the diagnosis and treatment of children with SMA.
Objective:
To evaluate parents' experiences with newborn screening and gene replacement therapy and to explore best practices for positive newborn screen disclosure and counseling of families.
Methods:
We conducted semi-structured interviews (n = 32) and online surveys (n = 79) of parents whose children were diagnosed with SMA (on newborn screening or symptomatically) and treated with gene replacement therapy.
Results:
Gene replacement therapy was most parents' first treatment choice, although concerns regarding long term efficacy (65%) and safety (51%) were common. Information provided during the newborn screening disclosure was quite variable. Only 34% of parents reported the information provided was sufficient and expressed need for more information about treatment. Although many parents experienced denial of the diagnosis at initial disclosure, 94% were in favor of inclusion of SMA on newborn screening. Parents were almost universally anxious following diagnosis and over half remained anxious at the time of study participation with uncertainty of the future being a key concern. Many parents had difficulty processing information provided during their first clinic appointment due to its complexity and their emotional state at the time.
Conclusions:
Utilizing this data, we provide a recommendation for the information provided in newborn screening disclosure, propose adjustments to education and counseling during the first clinic visit, and bring awareness of parents' mental health difficulties.
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