Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2020 Sep 1;174(9):821-822.
doi: 10.1001/jamapediatrics.2020.1522.

Ending the Diagnostic Odyssey-Is Whole-Genome Sequencing the Answer?

Ann Chen Wu  1 , Pamela McMahon  1 , Christine Lu  1
Affiliations
Review

Ending the Diagnostic Odyssey-Is Whole-Genome Sequencing the Answer?

Ann Chen Wu et al. JAMA Pediatr. .
No abstract available

PubMed Disclaimer

Conflict of interest statement

Conflict of interest statement: The authors have no conflicts to report.

References

    1. Sawyer SL, Hartley T, Dyment DA, et al. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clin Genet. 2016;89(3):275–284. doi: 10.1111/cge.12654 - DOI - PMC - PubMed
    1. Peters S Ending the Diagnostic Odyssey Act of 2019.; 2019. https://www.congress.gov/bill/116th-congress/house-bill/4144/text?format....
    1. Kingsmore SF, Cakici JA, Clark MM, et al. A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants. Am J Hum Genet. 2019;105(4):719–733. doi: 10.1016/j.ajhg.2019.08.009 - DOI - PMC - PubMed
    1. Clark MM, Stark Z, Farnaes L, et al. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. NPJ Genom Med. 2018;3:16. doi: 10.1038/s41525-018-0053-8 - DOI - PMC - PubMed
    1. The Cost of Sequencing a Human Genome | NHGRI. https://www.genome.gov/about-genomics/fact-sheets/Sequencing-Human-Genom.... Accessed January 10, 2020.