{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T14:18:51Z","timestamp":1781273931904,"version":"3.54.1"},"reference-count":41,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2022,1,17]],"date-time":"2022-01-17T00:00:00Z","timestamp":1642377600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100010237","name":"National Society of Genetic Counselors","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010237","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease characterized by muscle weakness and atrophy with usually typical cognition. The first disease\u2010modifying therapy for SMA, nusinersen, was approved by the United States Food and Drug Administration (FDA) in 2016 and leads to improved outcomes, especially when administered presymptomatically. Population\u2010wide carrier screening and newborn screening (NBS) are now recommended by several professional organizations to promote reproductive autonomy, early diagnosis, and treatment. Prenatal genetic counselors (GCs) are important providers of the SMA screening and diagnosis process, but the possible impact of nusinersen on their practice has not been explored. A survey of 182 prenatal GCs in the United States (US) assessed baseline knowledge of nusinersen and likelihood of discussing this option with prospective parents. The majority of GCs (94.5%) were aware of this drug, and almost all (87.3%) felt that this information would affect pregnancy management decisions. However, less than half of GCs (49.2%) felt confident discussing nusinersen, 45.1% were unaware if this treatment was available in their practice setting, and one in five (19.3%) did not know where to find information about SMA treatments. Participants were more confident and knowledgeable about NBS for SMA, and several indicated that NBS would reduce their emphasis on carrier screening and diagnostic testing, not recognizing that an early prenatal diagnosis can enable preparations for complex, time\u2010sensitive treatment. Only 5.0% of participants felt that a prenatal GC should discuss nusinersen with prospective parents. However, encouragingly, nearly all GCs who felt confident discussing this treatment option (86.4%) reported using this information weekly in their real\u2010world practice. These data highlight an opportunity to provide up\u2010to\u2010date education about SMA treatments, as well as the significant impacts of early diagnosis. Additionally, interdisciplinary communication and care may be appropriate to clarify healthcare resources available and support a variety of patient needs. Increasing awareness and confidence about available options can help prenatal GCs empower patient autonomy and shared decision\u2010making in the new era of disease\u2010modifying treatment for SMA.<\/jats:p>","DOI":"10.1002\/jgc4.1549","type":"journal-article","created":{"date-parts":[[2022,1,17]],"date-time":"2022-01-17T10:48:27Z","timestamp":1642416507000},"page":"803-814","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Evolving approaches to prenatal genetic counseling for Spinal Muscular Atrophy in the new treatment era"],"prefix":"10.1002","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5722-2136","authenticated-orcid":false,"given":"Bethany","family":"Zettler","sequence":"first","affiliation":[{"name":"Genetic Counseling Brandeis University Graduate School of Arts and Sciences  Waltham Massachusetts USA"},{"name":"Division of Genetics Brigham and Women's Hospital  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elicia","family":"Estrella","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomics Boston Children's Hospital and Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalida","family":"Liaquat","sequence":"additional","affiliation":[{"name":"Quest Diagnostics Athena Diagnostics  Marlborough Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Lichten","sequence":"additional","affiliation":[{"name":"Genetic Counseling Brandeis University Graduate School of Arts and Sciences  Waltham Massachusetts USA"},{"name":"Department of Human Genetics Emory University School of Medicine  Atlanta Georgia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,1,17]]},"reference":[{"key":"e_1_2_10_2_1","unstructured":"Accreditation Council for Genetic Counseling. (2019).Practice\u2010Based Competencies for Genetic Counselors. McLean VA. 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