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<p>With increasing demand for access to genetic services and the American College of Medical Genetics and Genomics’ (ACMG) recommendation that individuals with autism spectrum disorder (ASD) and developmental delay be offered genetic evaluation, alternative service models for genetic care are needed to increase efficiency. Web-based tools have enhanced access to clinical genetics content and services, particularly for patients with common referral indications such as ASD. The Boston Medical Center pediatric genetics clinic reports on the creation of an Expedited ASD Genetics Clinic (EAGC) which includes a waiting room questionnaire, educational video, physical examination, and blood work for genetic testing. The educational video, created in English and Spanish, mirrors the genetic testing educational content of a typical genetics visit for ASD. As the EAGC allows for more patients to be seen per clinic session, the number of visits with ICD-10 F84.0 (ASD) increased from 18 patients seen October to December 2022 to 32 patients seen October to December 2023. There was also a significant decrease between the number of days from referral to first offered appointment date for the patients with ASD seen in the EAGC compared to all new patients, regardless of referral reason, seen October to December 2022 (<InlineEquation ID="IEq1"> <InlineMediaObject> <ImageObject Color="BlackWhite" FileRef="12687_2025_812_Article_IEq1.gif" Format="GIF" Height="16" Rendition="HTML" Resolution="72" Type="Linedraw" Width="70" /> </InlineMediaObject> <EquationSource Format="TEX">\(\:p&lt;0.001\)</EquationSource> </InlineEquation>). This decreased wait time for an appointment for ASD-related genetic testing increases access to genetics services for this patient population.</p>

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Expedited workflow for autism spectrum disorder in a pediatric genetics clinic

  • 期刊论文

  • 发表日期：

    2025年6月25日

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  • Claire Barton,
  • Gauri Anand,
  • Jodi Hoffman

摘要

With increasing demand for access to genetic services and the American College of Medical Genetics and Genomics’ (ACMG) recommendation that individuals with autism spectrum disorder (ASD) and developmental delay be offered genetic evaluation, alternative service models for genetic care are needed to increase efficiency. Web-based tools have enhanced access to clinical genetics content and services, particularly for patients with common referral indications such as ASD. The Boston Medical Center pediatric genetics clinic reports on the creation of an Expedited ASD Genetics Clinic (EAGC) which includes a waiting room questionnaire, educational video, physical examination, and blood work for genetic testing. The educational video, created in English and Spanish, mirrors the genetic testing educational content of a typical genetics visit for ASD. As the EAGC allows for more patients to be seen per clinic session, the number of visits with ICD-10 F84.0 (ASD) increased from 18 patients seen October to December 2022 to 32 patients seen October to December 2023. There was also a significant decrease between the number of days from referral to first offered appointment date for the patients with ASD seen in the EAGC compared to all new patients, regardless of referral reason, seen October to December 2022 ( \(\:p<0.001\) ). This decreased wait time for an appointment for ASD-related genetic testing increases access to genetics services for this patient population.