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Evidence Trail

The Problem

25-30M Americans live with a rare disease. NIH GARD FAQ, 2024

300-400M people globally live with rare diseases. The Lancet Global Health, 2024

Average diagnosis delay is often 5+ years. NORD Rare Disease Facts, 2024

Up to 95% of rare diseases still have no approved treatment. NORD Rare Disease Facts, 2024

Nearly 70% of rare diseases present in childhood. The Lancet Global Health, 2024

U.S. rare disease burden approaches $1T annually across direct, indirect, and non-medical costs. EveryLife National Economic Burden Study, 2021

Delayed diagnosis can add up to $517,000 in avoidable per-patient costs. EveryLife Delayed Diagnosis Study, 2023

Workforce Gap

Roughly 1,965 U.S. MD clinical genetics diplomates are certified. ABMGG Diplomate Statistics, 2024

6,985 certified genetic counselors were active in the U.S. NSGC Professional Status Survey, 2024

10,250+ genetic counselors are documented globally across 45+ countries. Ormond et al., Global status of genetic counselors, 2024

India has an estimated 70M people living with rare diseases. India National Policy for Rare Diseases, 2021

This approximates to ~1 specialist per 30,000 patients globally.

derived ratio = estimated global rare disease patients / estimated global specialists

Sequencing Side

Whole-genome sequencing has reached the ~$200 genome threshold on modern high-throughput platforms. Illumina NovaSeq X, 2024

Variant interpretation remains a major specialist time bottleneck in real workflows. Genetics in Medicine, 2016

Precision genomic testing demand is projected to grow rapidly through 2030 in the U.S. Grand View Research, 2026

GeneGenius Proof

VCF to ACMG-classified report in under 5 minutes. (company-reported)

200+ daily active researchers with zero paid acquisition. (company-reported)

8.4 analyses per user on average. (company-reported)

19 NVIDIA BioNeMo models on H100 GPUs. (company-reported)

$5-$20 per case vs. $1,000-$5,000 for manual interpretation. (company-reported)

Patient Stories

Families can spend years in diagnostic odysseys before receiving actionable answers. EveryLife Delayed Diagnosis Study, 2023

People with undiagnosed rare diseases often face prolonged uncertainty and repeated testing. NORD Undiagnosed Diseases, 2024

All claims on this website are supported by peer-reviewed studies, official datasets, and authoritative sources.

Last verified: May 2026. For questions about our sources, please contact us.