NGS-Based Multi-Gene Panels Now Standard in Cancer Genetic Testing

The hereditary cancer testing industry has largely completed a shift that began years ago: single-gene tests have given way to multi-gene panels built on next-generation sequencing (NGS), the technology that allows many genes to be read simultaneously rather than one at a time. That shift has changed both the clinical experience of testing and the competitive landscape among the laboratories that run it.

NGS is now the technical backbone of hereditary cancer panels. Amplicon-based panels remain dominant in the market because of their lower cost, rapid turnaround, and high sensitivity for targeted sequencing, while longer-read sequencing technologies are advancing for the genomic regions — high GC content, repetitive sequences, structural variants — that shorter reads struggle to resolve cleanly. Laboratories are also increasingly pairing NGS output with AI-assisted bioinformatics to speed up and standardize how raw sequencing data gets interpreted.

The clinical panels themselves have broadened accordingly. Where testing once targeted a single gene tied to a specific suspected syndrome, panels today commonly evaluate dozens of genes across multiple cancer types, and “pan-cancer” panels assessing an even wider gene set are emerging. Quest Diagnostics, for example, offers both a guideline-based hereditary cancer panel covering 32 genes and a more comprehensive 66-gene panel. Mayo Clinic Laboratories offers more than ten focused hereditary cancer panels built on NGS. Natera’s Empower panels screen for genes associated with elevated risk across more than a dozen cancer types. Labcorp provides hereditary cancer testing through Invitae. Illumina and Thermo Fisher Scientific remain the two largest suppliers of the underlying sequencing platforms and chemistry that laboratories build their panels on.

In November 2023, the FDA granted marketing authorization for the Invitae Common Hereditary Cancers Panel, a blood test that detects inherited genetic changes across 47 genes linked to hereditary forms of cancer — the first test of its kind to receive that authorization.

Broader panels do come with a well-documented tradeoff: the more genes a test evaluates, the more likely it is to turn up a variant of uncertain significance (VUS) — a result that isn’t clearly pathogenic or clearly benign. Because panel composition also varies from one laboratory to another, two patients tested through different labs for the same suspected condition can end up with panels that don’t fully overlap, which is one reason genetic counselors typically review which specific genes a given panel actually covers before results are ordered or interpreted.

For patients, the net effect of this consolidation around multi-gene, NGS-based testing is a wider net: a single blood or saliva sample can now screen for pathogenic variants across many more genes than single-gene testing ever could, at costs that have generally declined as sequencing throughput has improved. Understanding which panel was used, and which genes it did and didn’t include, remains a key question to raise directly with a genetic counselor or ordering clinician.