Related Experiment Video
Updated: Mar 17, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
User-centered design of multi-gene sequencing panel reports for clinicians
Elizabeth Cutting1, Meghan Banchero1, Amber L Beitelshees1
1Program for Personalized and Genomic Medicine, University of Maryland School of Medicine, Baltimore, MD, United States.
Developing a gene sequencing (GS) report prototype requires clinician input for optimal design. User-centered feedback highlighted needs for customized notifications, specific information, and genetics specialist consultation.
Area of Science:
- Genomic Medicine
- Health Informatics
- Human-Computer Interaction
Background:
- Delivering multi-gene sequencing (GS) reports in fast-paced healthcare settings presents challenges.
- Effective communication of complex genomic data is crucial for precision medicine.
Purpose of the Study:
- To develop a high-fidelity prototype for delivering GS reports to clinicians.
- To simulate the user experience of a final application using a user-centered design approach.
Main Methods:
- A user-centered software design approach was employed with focus groups of diverse stakeholders.
- Focus group responses were transcribed, coded, and analyzed.
- A software prototype was designed based on participant preferences for notification and information resources, followed by task walkthroughs.
Main Results:
- Clinician preferences for notification, content, and consultation varied based on familiarity with GS report scenarios.
- Participants indicated a need for customized notifications, user-specific information, and access to genetics specialists.
- Recommendations for prototype design and content were provided by participants.
Conclusions:
- User-centered design is essential for developing effective GS report delivery systems.
- Future software applications should support customized notifications, tailored information, and readily available genetics specialist consultation.
- This study's findings and user-centered approach offer valuable insights for similar projects in genomic medicine.
More Related Videos
13:24Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
Published on: April 11, 2016
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Related Concept Videos
Next-generation Sequencing
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Genetic Screens
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...