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2023 ACMG Annual Clinical Genetics Meeting Digital ...
The Digital Genetic Assistant: Effectiveness of a ...
The Digital Genetic Assistant: Effectiveness of a Novel Patient Approach to Carrier Screening
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Pdf Summary
A study was conducted to evaluate the effectiveness and patient satisfaction of a Digital Genetic Assistant (DGA) for carrier screening for genetic disorders. A total of 95 patients completed the DGA program, which involved a pre-test registration, a personalized educational video explaining the risks and benefits of carrier screening, blood testing, and access to results through a secure portal. <br /><br />The pre-test survey revealed that patients rated the overall assessment of access and video quality as 4.09 out of 5. The majority of patients (95 out of 100) felt that they had enough information to make a decision about screening. The post-test survey showed high ratings for ease of access to results video and summary, understanding the results as presented in the video, and overall satisfaction with the DGA process. <br /><br />Patient comments indicated positive feedback on the educational video, with many patients appreciating how it was presented in layman's terms and made the process less stressful. However, some patients found the graphics in the video to be distracting and irrelevant. <br /><br />Overall, the study demonstrated the effectiveness of the DGA in providing information on carrier screening for genetic disorders in an understandable and comprehensive manner. The combination of the video and a follow-up written report allowed for increased patient engagement and satisfaction. Patient feedback will be important for further development and enhancements of the DGA tool.
Asset Subtitle
Presenting Author - Denise Cutillo, MS; Co-Author - Melody Kohan, MS; Co-Author - Ellen L. Schlenker, MS, CGC; Co-Author - Kristi Fissell, MS, CGC; Co-Author - Thomas Westover, MD; Co-Author - Doron M. Behar, MD, PhD;
Meta Tag
Counseling
Genetic Testing
NextGen Sequencing
Prenatal Diagnosis
Co-Author
Melody Kohan, MS
Co-Author
Ellen L. Schlenker, MS, CGC
Co-Author
Kristi Fissell, MS, CGC
Co-Author
Thomas Westover, MD
Co-Author
Doron M. Behar, MD, PhD
Presenting Author
Denise Cutillo, MS
Keywords
study
effectiveness
patient satisfaction
Digital Genetic Assistant
carrier screening
genetic disorders
educational video
blood testing
secure portal
patient feedback
© 2025 American College of Medical Genetics and Genomics. All rights reserved.
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