Related Experiment Video
Updated: Nov 16, 2025
09:34
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
34.3K
Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing
Lisa A Lansdon1, Maxime Cadieux-Dion1, Byunggil Yoo2
1Department of Pathology and Laboratory Medicine, Children's Mercy-Kansas City, Kansas City, Missouri; Center for Pediatric Genomic Medicine, Children's Mercy-Kansas City, Kansas City, Missouri.
The Journal of Molecular Diagnostics : JMD
|February 25, 2021
Summary
Most clinical molecular laboratories are not migrating to the human reference genome build GRCh38 due to perceived costs and insufficient staff. This reluctance indicates significant obstacles to widespread GRCh38 adoption in diagnostic settings.
Area of Science:
- Genomics
- Bioinformatics
- Clinical Diagnostics
Background:
- The human reference genome GRCh38 was released in 2013, but many clinical laboratories still use the older GRCh37 build for next-generation sequencing (NGS).
- Understanding the migration status and barriers to adopting GRCh38 is crucial for advancing clinical genomics.
Purpose of the Study:
- To assess the extent of GRCh38 migration among clinical diagnostic laboratories.
- To identify factors hindering the adoption of GRCh38 in constitutional NGS testing.
Main Methods:
- A five-question electronic survey was distributed to 71 clinical laboratories offering constitutional NGS-based testing.
- Data from 28 eligible responses were analyzed categorically.
Main Results:
- Only 7% of responding laboratories had fully migrated to GRCh38.
- 54% had no plans to migrate, citing that benefits did not outweigh costs (50%) and insufficient staff (43%) as primary reasons.
- Most laboratories reported processing fewer than 500 NGS tests in 2019.
Conclusions:
- Clinical molecular laboratories show reluctance towards migrating to GRCh38.
- Significant obstacles, including cost-benefit perception and staffing limitations, impede widespread GRCh38 adoption.
