{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T00:16:31Z","timestamp":1789172191254,"version":"build-2803163510"},"reference-count":32,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,5,26]],"date-time":"2023-05-26T00:00:00Z","timestamp":1685059200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007441","name":"John Merck Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007441","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":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Complicated genetic mechanisms and unpredictable health risks associated with the <jats:italic>FMR1<\/jats:italic> premutation can result in challenges for patient education when the diagnosis is made in a newborn. From October 15, 2018, to December 10, 2021, North Carolina parents could obtain <jats:italic>FMR1<\/jats:italic> premutation results about their newborns through a voluntary expanded newborn screening research study. The study provided confirmatory testing, parental testing, and genetic counseling. We developed web\u2010based educational materials to augment information about fragile X premutation conveyed by a genetic counselor. Many genetics education materials are developed for the lay population. However, relatively little research is published on how well individuals understand these materials. We conducted three rounds of iterative user testing interviews to help refine web\u2010based educational materials that support understanding and self\u2010paced learning. The participants included 25 parents with a 2\u2010year college degree or less and without a child identified with fragile X syndrome, premutation, or gray\u2010zone allele. Content analysis of interview transcripts resulted in iterative changes and ultimately saturation of findings. Across all rounds of interviews, there were two terms that were commonly misunderstood (<jats:italic>fragile<\/jats:italic> and <jats:italic>carrier<\/jats:italic>) and two terms that elicited initial misconceptions that were overcome by participants. Many also had difficulty understanding the relationship between fragile X premutation and fragile X syndrome as well as appreciating the implications of having a \u201cfragile X gene.\u201d Website layout, formatting, and graphics also influenced comprehension. Despite iterative changes to the content, certain issues with understandability persisted. The findings support the need for user testing to identify misconceptions that may interfere with understanding and using genetic information. Here, we describe a process used to develop and refine evidence\u2010based, understandable parental resources on fragile X premutation. Additionally, we provide recommendations to address ongoing educational challenges and discuss the potential impact of bias on the part of expert content developers.<\/jats:p>","DOI":"10.1002\/jgc4.1725","type":"journal-article","created":{"date-parts":[[2023,5,26]],"date-time":"2023-05-26T12:10:25Z","timestamp":1685103025000},"page":"341-351","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Misunderstood terms and concepts identified through user testing of educational materials for fragile X premutation: \u201cNot weak or fragile?\u201d"],"prefix":"10.1002","volume":"33","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6808-8016","authenticated-orcid":false,"given":"Beth","family":"Lincoln\u2010Boyea","sequence":"first","affiliation":[{"name":"Genomics, Bioinformatics, and Translational Research Center, RTI International  Research Triangle Park North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2102-2287","authenticated-orcid":false,"given":"Rebecca R.","family":"Moultrie","sequence":"additional","affiliation":[{"name":"Center for Communication Science, RTI International  Research Triangle Park North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9665-8963","authenticated-orcid":false,"given":"Barbara B.","family":"Biesecker","sequence":"additional","affiliation":[{"name":"Genomics, Bioinformatics, and Translational Research Center, RTI International  Research Triangle Park North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7600-6394","authenticated-orcid":false,"given":"Marcia","family":"Underwood","sequence":"additional","affiliation":[{"name":"Center for Data Science, RTI International  Research Triangle Park North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7143-1866","authenticated-orcid":false,"given":"Martin","family":"Duparc","sequence":"additional","affiliation":[{"name":"Genomics, Bioinformatics, and Translational Research Center, RTI International  Research Triangle Park North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2693-5616","authenticated-orcid":false,"given":"Anne C.","family":"Wheeler","sequence":"additional","affiliation":[{"name":"Genomics, Bioinformatics, and Translational Research Center, RTI International  Research Triangle Park North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3053-7453","authenticated-orcid":false,"given":"Holly L.","family":"Peay","sequence":"additional","affiliation":[{"name":"Genomics, Bioinformatics, and Translational Research Center, RTI International  Research Triangle Park North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,5,26]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12887\u2010019\u20101606\u20104"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32439"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588\u2010020\u20100669\u20103"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1177\/0009922812446011"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897\u2010012\u20109524\u20108"},{"key":"e_1_2_12_7_1","unstructured":"FRAXA Research Foundation. (2022).FMR1 renamed to Fragile X Messenger Ribonucleoprotein 1.https:\/\/www.fraxa.org\/fmr1\u2010renamed\u2010to\u2010fragile\u2010x\u2010messenger\u2010ribonucleoprotein\u20101\/"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1159\/000358413"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fpsyt.2018.00564"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10903\u2010022\u201001418\u20105"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.139"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2020.00266"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897\u2010014\u20109705\u20108"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897\u2010010\u20109307\u2010z"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.acra.2019.03.026"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13187\u2010019\u201001535\u20100"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11764\u2010015\u20100431\u20105"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.3390\/brainsci9010004"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38692"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00351"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_12_22_1","unstructured":"RTI International. (n.d.\u2010a).Welcome to your first stop for information. Early check: first stop for parents of babies with the fragile x premutation.https:\/\/portal.earlycheck.org\/en\/fragile\u2010x\/first\u2010stop\u2010for\u2010parents\u2010fxpm"},{"key":"e_1_2_12_23_1","unstructured":"RTI International. (n.d.\u2010b).Welcome to your next stop for information. 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