Newborn variants may flag childhood cancer predisposition
Overview
Targeted genomic sequencing of newborn dried blood spots identified pathogenic or likely pathogenic cancer-predisposition variants in approximately 7% of pediatric patients who developed malignancies by age 8.
Background
The identification of genetic predispositions to cancer in newborns is crucial for early intervention and management of pediatric cancers. Current screening practices do not routinely include cancer risk assessment. Understanding the prevalence of germline variants associated with early-onset cancers can inform future screening protocols.
Data Highlights
Finding
Value
Patients with pathogenic variants
7% (n = 132)
RB1 variants in retinoblastoma patients
68 of 168
Median age at diagnosis with RB1 variant
9 months
Median age at diagnosis without RB1 variant
23 months
Second cancer development in carriers
9% (n = 11)
Key Findings
Pathogenic or likely pathogenic variants were detected in 7% of pediatric patients with malignancies.
RB1 accounted for the majority of variants, with 69 identified.
130 patients had tumor types associated with their detected variants.
Patients with detected variants were diagnosed at a median age of 14 months compared to 32 months for non-carriers.
There were no significant differences in treatment or survival based on variant status.
Clinical Implications
Clinicians should consider the implications of genetic testing in newborns for identifying at-risk populations.
Conclusion
Further research is warranted into the clinical applications of newborn genomic screening.
