Nanopore Whole‑Genome Sequencing Speeds Pediatric Cancer Diagnosis

Researchers at the Meta-Platform for Integrated Genomics (MPGI), led by Dr. Vincent‑Philippe Lavallée, report a whole‑genome sequencing method using Oxford Nanopore adaptive sampling that can detect a wide range of genetic and epigenetic abnormalities in pediatric cancers in under 24 hours, potentially accelerating diagnosis and treatment decisions. Complementary studies stress that constitutional (germline) genetic testing for familial cancer syndromes and challenging variants requires systematic incorporation of patient, family, and clinician perspectives to interpret functional impact and address psychosocial consequences. Clinical accounts indicate that identifying hereditary mutations such as BRCA enables intensified surveillance and risk‑reducing options that improve outcomes. Experts recommend individualized screening strategies for adults—particularly those over 35 or with strong family histories—including routine blood testing, targeted genetic panels, consideration of emerging multi‑cancer assays (e.g., Galleri), and lifestyle risk‑factor management. Surveys and patient stories show that guideline‑based hereditary testing programs (for example, MyRisk) often provide reassurance and actionable information for patients and their families.