Researchers conducted a survey of prenatal genetic counselors on their thoughts on nusinersen treatment for patients with spinal muscular atrophy (SMA) and reported mixed outcomes, as published in the National Society of Genetic Counselors.

Many professional organizations now promote population-carrier screening and newborn screening for SMA. Prenatal counselors play an important role in helping people understand the SMA screening and diagnosis process.

Nusinersen was approved for use in patients with SMA by the US Food and Drug Administration (FDA) in 2016, but so far there has been no study on the impact of this drug on the work of genetic counselors.

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Zettler and colleagues hence decided to send a survey to genetic counselors to gauge their opinion on various aspects of nusinersen treatment. The participants recruited in this study were practicing genetic counselors that were American Board of Genetic Counselors board-certified or board-eligible.

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Zettler et al began data collection from October to December 2018 and designed a survey that consisted of 25 items, covering 4 main sections: demographic information, background knowledge of SMA/neurogenetics/nusinersen, clinical scenario (ie, the likelihood of them discussing topics about SMA and treatment options given specific scenarios), and clinical frequency and comments (ie, how often they encountered scenarios relating to SMA/nusinersen in clinical practice).

A total of 182 complete responses were collected. The results demonstrated that the overwhelming majority (94.5%) of genetic counselors were aware of the drug nusinersen, with 87.3% believing that this influenced pregnancy management decisions.

However, only 49.2% of genetic counselors felt confident in discussing nusinersen, while 45.1% were unaware of nusinersen being available as a treatment option in their clinical setting. For the group of genetic counselors who felt confident discussing nusinersen treatment, 86.4% of them reported using this information weekly in their clinical practice.

“With the unique skill set of genetics expertise, patient advocacy, and psychosocial support, genetic counselors can empower parents with all options available to turn a devastating diagnosis into a manageable situation,” the researchers concluded.


Zettler B, Estrella E, Liaquat K, Lichten L. Evolving approaches to prenatal genetic counseling for spinal muscular atrophy in the new treatment eraJ Genet Couns. Published online January 17, 2022. doi:10.1002/jgc4.1549