Evidence Supports Sequencing As First-Line Rare Disease Diagnostic - Seite 2

"The evidence shows that, in many scenarios, genomic sequencing should be the first-line genetic test," Taft says. "Pediatric patients in intensive care units who have unexplained conditions should be first in line. Also, if a targeted panel doesn't include all the suspected genes that might be causing the child's condition, comprehensive genomic sequencing can fill those gaps."

In addition to offering high diagnostic yields, genomic sequencing is fast. Rapid approaches, pioneered over the past few years, can produce results in a matter of days, a capability that has been particularly beneficial for critically ill babies in NICUs. Less comprehensive alternatives to GS can waste precious time and delay much-needed diagnoses.

While this review highlights the many benefits of genomic sequencing in critical care settings, more work remains to be done. The authors found little published research on first-line GS in outpatient and other less urgent scenarios. Additional studies will be needed; however, for many patients, the evidence clearly supports the clinical efficacy of genomic sequencing.

"There is still resistance to pursue genomic sequencing because of the perception that the price is too high," Taft says, "but this fails to account for recent dramatic reductions in GS costs and its impact on the downstream continuum of care. Getting precision answers sooner, particularly for patients with rare genetic disorders, is almost always the most cost-effective approach."

Register here for the Medical Genome Initiative's webinar on April 25, 2024. Sponsored by Illumina, Dr. Kristen Wigby will speak on topics related to whole-genome sequencing for rare disease.

Foto: Accesswire

View additional multimedia and more ESG storytelling from Illumina on 3blmedia.com.

Contact Info:
Spokesperson: Illumina
Website: https://www.3blmedia.com/profiles/illumina
Email: [e-mail]

SOURCE: Illumina

View the original press release on accesswire.com


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