Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing.

Creator(s)

Lisa A. Lansdon, Children's Mercy HospitalFollow
Maxime Cadieux-Dion, Children's Mercy HospitalFollow
Byunggil Yoo, Children's Mercy HospitalFollow
Neil A. Miller, Children's Mercy HospitalFollow
Ana S A Cohen, Children's Mercy HospitalFollow
Lee Zellmer, Children's Mercy HospitalFollow
Lei Zhang, Children's Mercy HospitalFollow
Emily G. Farrow, Children's Mercy HospitalFollow
Isabelle Thiffault, Children's Mercy HospitalFollow
Elena Repnikova, Children's Mercy HospitalFollow
Linda D. Cooley, Children's Mercy HospitalFollow
Joseph Alaimo, Children's Mercy HospitalFollow
Binu Porath, Children's Mercy Hospital
John Herriges, Children's Mercy HospitalFollow
Carol J. Saunders, Children's Mercy HospitalFollow
Midhat S. Farooqi, Children's Mercy HospitalFollow

Document Type

Article

Publication Date

5-2021

Identifier

DOI: 10.1016/j.jmoldx.2021.02.003

Abstract

The most recent build of the human reference genome, GRCh38, was released in 2013. However, many laboratories performing next-generation sequencing (NGS) continue to align to GRCh37. Our aim was to assess the number of clinical diagnostic laboratories that have migrated to GRCh38 and discern factors impeding migration for those still using GRCh37. A brief, five-question survey was electronically administered to 71 clinical laboratories offering constitutional NGS-based testing and analyzed categorically. Twenty-eight responses meeting inclusion criteria were collected from 24 academic and four commercial diagnostic laboratories. Most of these (14; 50%) reported volumes of(7%) had already migrated entirely to GRCh38; most laboratories (15; 54%) had no plans to migrate. The two prevailing reasons for not yet migrating were as follows: laboratories did not feel the benefits outweighed the time and monetary costs (14; 50%); and laboratories had insufficient staff to facilitate the migration (12; 43%). These data, although limited, suggest most clinical molecular laboratories are reluctant to migrate to GRCh38, and there appear to be multiple obstacles to overcome before GRCh38 is widely adopted.

Journal Title

The Journal of molecular diagnostics : JMD

Volume

23

Issue

5

First Page

651

Last Page

657

Recommended Citation

Lansdon LA, Cadieux-Dion M, Yoo B, Miller N, Cohen ASA, Zellmer L, Zhang L, Farrow EG, Thiffault I, Repnikova EA, Cooley LD, Alaimo JT, Porath B, Herriges JC, Saunders CJ, Farooqi MS. Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing. J Mol Diagn. 2021 May;23(5):651-657. doi: 10.1016/j.jmoldx.2021.02.003. Epub 2021 Feb 22. PMID: 33631350.