Paul D. Kempinski President and Chief Executive Officer | Children's Mercy Hospital K.C.
Paul D. Kempinski President and Chief Executive Officer | Children's Mercy Hospital K.C.
Clinical long-read whole-genome sequencing (WGS) may soon become a primary tool for diagnosing suspected genetic diseases, according to new research from Children's Mercy Kansas City. The study, led by Tomi Pastinen and published in JAMA Pediatrics, evaluated the effectiveness of long-read WGS compared to traditional diagnostic methods such as gene panels, cytogenetics, microarrays, and exome sequencing.
The researchers analyzed 235 cases using long-read WGS and compared them with 513 historical matched control cases based on indication, age, and sex. The findings showed that the diagnostic yield increased to about 37 percent with long-read WGS, while other methods achieved a yield of 27 percent. Additionally, the average time to diagnosis was reduced to 27 days with long-read WGS versus 62 days for other techniques. For negative results, the turnaround time was shortened from 91 days with standard approaches to just 29 days.
These results are the first published since Children's Mercy validated its whole-genome sequencing test utilizing Pacific Biosciences' HiFi sequencing technology.
"Unlocking Answers Faster. Children’s Mercy Revolutionizes Genetic Disease Diagnosis with a Single-Test," stated the Genomic Medicine Center at Children's Mercy.
Further details can be found in the full article on GenomeWeb Premium.
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