Upfront whole genome and transcriptome sequencing to improve diagnosis in inherited bone marrow failure syndromes.

Upfront whole genome and transcriptome sequencing in 237 suspected inherited bone marrow failure syndrome patients established a molecular diagnosis in 87 cases (36.7%).

• Why it matters: Diagnosis is difficult because IBMFS entities overlap clinically and pathologically with acquired diseases, and targeted panels or whole exome sequencing miss substantial pathogenic variation.
• What they did: Clinically-accredited WGTS used non-hematopoietic DNA with real-time return of results to guide management and familial testing in 237 patients, median age 29 years.
• The result: WGTS also found four non-hematological genetic conditions, seven secondary actionable findings, and novel mechanisms such as retrotransposon-mediated disruption, expanding gene associations and improving diagnostic yield.

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