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Genetics and Genomics

RNA Sequencing as a Diagnostic Tool

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JAMA

Published Online: December 16, 2022

JAMA Insights

Article Information and Disclosures

Shamika Ketkar, PhD¹;

Lindsay C. Burrage, MD, PhD¹;

Brendan Lee, MD, PhD¹

Author Affiliations

¹Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas

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RNA sequencing (RNA-seq) is a new tool in the genetic diagnostic laboratory made possible by the advent of low-cost, high-throughput, next-generation sequencing technology. Historically, RNA studies were limited to gene expression using microarray technology for the detection of gene rearrangements and quantification of gene expression for predefined genes. RNA-seq allows detection of qualitative and quantitative changes in RNA expression across the genome in clinical samples and is increasingly being used as an adjunct to diagnostic exome sequencing and whole-genome sequencing.

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Article Information

Corresponding Author: Brendan Lee, MD, PhD, Baylor College of Medicine, One Baylor Plaza, ABBR-R814, Houston, TX 77030 (blee@bcm.edu).

Published Online: December 16, 2022. doi:10.1001/jama.2022.22843

Conflict of Interest Disclosures: The authors are employees of Baylor College of Medicine, which is co-owner of Baylor Genetics, a diagnostic genetic testing company. The authors did not receive any personal compensation from Baylor Genetics.

Funding/Support: This work was supported by grants from the National Institutes of Health (U01 HG007709 to Dr Lee, T32 GM007526 to Dr Ketkar, and U54 OD030165 to Dr Burrage). Dr Burrage is also supported by a Career Award for Medical Scientists from the Burroughs Wellcome Fund.

Role of the Funder/Sponsor: The funders had no role in the preparation, review, or approval of the manuscript, or the decision to submit the manuscript for publication.

References

Ketkar S , Kulkarni S . RNA-sequencing and methylome analysis. In: Clinical Genomics. Academic Press; 2015:77-88.

Yépez VA , Gusic M , Kopajtich R , et al. Clinical implementation of RNA sequencing for mendelian disease diagnostics. Genome Med. 2022;14(1):38. PubMed Google Scholar Crossref

Aicher JK , Jewell P , Vaquero-Garcia J , Barash Y , Bhoj EJ . Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate mendelian disease diagnosis using RNA-seq. Genet Med. 2020;22(7):1181-1190. PubMed Google Scholar Crossref

Murdock DR , Dai H , Burrage LC , et al; Undiagnosed Diseases Network. Transcriptome-directed analysis for mendelian disease diagnosis overcomes limitations of conventional genomic testing. J Clin Invest. 2021;131(1):e141500. PubMed Google Scholar

Lee H , Huang AY , Wang L-K , et al; Undiagnosed Diseases Network. Diagnostic utility of transcriptome sequencing for rare mendelian diseases. Genet Med. 2020;22(3):490-499. PubMed Google Scholar Crossref

AMA CME Accreditation Information

Credit Designation Statement: The American Medical Association designates this Journal-based CME activity activity for a maximum of 1.00  AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to:

1.00 Medical Knowledge MOC points in the American Board of Internal Medicine's (ABIM) Maintenance of Certification (MOC) program;;
1.00 Self-Assessment points in the American Board of Otolaryngology – Head and Neck Surgery’s (ABOHNS) Continuing Certification program;
1.00 MOC points in the American Board of Pediatrics’ (ABP) Maintenance of Certification (MOC) program;
1.00 Lifelong Learning points in the American Board of Pathology’s (ABPath) Continuing Certification program; and
1.00 CME points in the American Board of Surgery’s (ABS) Continuing Certification program

It is the CME activity provider's responsibility to submit participant completion information to ACCME for the purpose of granting MOC credit.