Evidence Supports Sequencing As First-Line Rare Disease Diagnostic

The Medical Genome Initiative presents a paper in an effort to expand patient access to sequencing

Originally published on Illumina News Center

NORTHAMPTON, MA / ACCESSWIRE / April 17, 2024 / A recent literature review, published in the Nature journal Genomic Medicine, showed that short-read genomic sequencing (GS) reduces the time it takes to diagnose and treat pediatric patients who may have a rare genetic condition. This evidence supports efforts to make GS the first-line standard of care, particularly for patients in neonatal intensive care units (NICU) and other critical care settings.

"Historically we have used a stair-step approach to diagnose these conditions, starting with the least comprehensive tests," says Ryan Taft, PhD, vice president of Scientific Research at Illumina and an author of the study. "If the first efforts fail to produce a diagnosis, more sophisticated tests are then used, and eventually genomic sequencing is used as a last resort. But this approach wastes time and resources and can be emotionally devastating for families who are left without answers. The evidence shows that, in many cases, sequencing is the most effective diagnostic approach-whenever possible, we just use genome sequencing as our first port of call."

The study was conducted by the Medical Genome Initiative (MGI), a consortium of clinical genomic sequencing laboratories working to expand access to high-quality GS. As reported in their latest manuscript, there is significant evidence that genomic sequencing excels as a diagnostic test for rare genetic diseases, but clinical adoption has been unexpectedly slow.

To fully assess the evidence for GS in rare genetic disease populations, the MGI conducted a focused literature review and meta-analysis. A total of 71 papers met their criteria, published between January 2014 and August 2022, which included over 13,000 patients. The studies were evaluated based on their analysis strategies, including the types of variants analyzed, interpretation guidelines, health care settings, secondary findings, turnaround times, cohort phenotypes, diagnostic yields, and clinical utility.

Overall, the study found an average diagnostic yield of 45% for first-tier genomic sequencing, compared to 33% in groups that had received earlier genetic testing and 33% in patients who did not receive a diagnosis from exome sequencing. Clinical utility was reported by one-third of the studies. Changes in management described included outcome efficacy across diagnostic thinking, treatment, patient outcomes, and social impacts, and the authors found a broad range of reported rates of changes in management (20%-100%) since the methods used to assess clinical utility varied from one study to the next.

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