# Spinal Muscular Atrophy Carrier Screening: Assessment of Provider Knowledge and Clinical Practice

## TL;DR

This study finds that while most prenatal providers offer spinal muscular atrophy carrier screening, their knowledge and comfort in discussing it are low, highlighting a need for better education.

## Contribution

The study is the first to assess provider knowledge and comfort specifically regarding spinal muscular atrophy carrier screening.

## Key findings

- Most providers offer SMA carrier screening but have low knowledge about it.
- Fewer than 25% of providers feel completely comfortable discussing screening and results.
- Higher knowledge scores correlate with greater comfort in discussing SMA screening.

## Abstract

The American College of Obstetricians and Gynecologists (ACOG) recommends offering spinal muscular atrophy (SMA) carrier screening (CS) preconception or prenatally. This study aimed to determine provider knowledge of SMA and SMA CS practice patterns and to describe the relationship between knowledge and comfort while discussing screening and results.

Prenatal providers completed an anonymous web‐based survey on SMA knowledge, CS practice patterns, and comfort in interpretation of results. Data were summarized with descriptive statistics. The relationship between provider training and SMA knowledge with provider comfort was analyzed.

75% (112/150) of providers responded and 64.6% completed the survey. Participants varied in roles and years of experience. The mean score on knowledge was 3.8/8 (47.5%) with 20.6% of respondents scoring ≥ 75% and 51.6% scoring ≥ 50%. Knowledge did not vary with years of experience. Although 91.3% of providers offer SMA screening, less than 25% reported complete comfort discussing screening and results. Comfort correlated with role and experience. Providers who felt completely comfortable discussing SMA screening had higher knowledge scores.

Although the majority of providers offer SMA CS, provider knowledge regarding SMA is low, and most are not comfortable discussing screening and results.

What is already known about this topic?◦Previous studies have shown poor provider comprehension of genetic screening◦No studies specifically looking at spinal muscular atrophy (SMA) carrier screening (CS) knowledge and comfortWhat does this study add?◦The majority of prenatal care providers offer SMA CS◦Provider knowledge regarding SMA is low◦Most providers are not completely comfortable discussing SMA screening and test results◦This study, demonstrating poor SMA knowledge and comfort, shows a critical need for improved provider education and support.

What is already known about this topic?

Previous studies have shown poor provider comprehension of genetic screening

No studies specifically looking at spinal muscular atrophy (SMA) carrier screening (CS) knowledge and comfort

What does this study add?

The majority of prenatal care providers offer SMA CS

Provider knowledge regarding SMA is low

Most providers are not completely comfortable discussing SMA screening and test results

This study, demonstrating poor SMA knowledge and comfort, shows a critical need for improved provider education and support.