Evidence Trail

• More than 30M Americans — roughly 1 in 10 — live with a rare disease.NORD Rare Disease Facts · 2026
• 300–400M people globally live with rare diseases.The Lancet Global Health · 2024
• Average diagnosis delay is often 5+ years.NORD Rare Disease Facts · 2026
• Up to 95% of rare diseases still have no approved treatment.NORD Rare Disease Facts · 2026
• 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 (2019 data).EveryLife National Economic Burden Study · 2022
• Delayed diagnosis adds $86,000–$517,000 in avoidable per-patient costs across the seven rare diseases studied.EveryLife Delayed Diagnosis Study · 2023

• Roughly 1,965 U.S. MD clinical genetics diplomates are certified.ABMGG Diplomate Statistics · 2023
• 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).

• 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 · 2024

• Median diagnostic delay in monogenic disease is ~5 years; delay is linked to morbidity, mortality, anxiety, and repeated ineffective testing.Tinker et al., Genetics in Medicine · 2024
• Rare-disease patient journeys average 11.8 years (median 6.1 years) to diagnosis, with heavy healthcare resource use.Cribbs et al., J. Evaluation in Clinical Practice · 2025
• Rare genetic disorders with neuropsychiatric manifestations show a mean diagnostic delay of 9.3 years.Siegel et al., European J. Medical Genetics · 2025
• Inherited metabolic disease diagnosed in older adults carries a median delay of 14.5 years.Moio et al., J. Inherited Metabolic Disease · 2025
• Hereditary angioedema is diagnosed after 3.9–26 years of delay, with an ~8.6% asphyxiation death risk.Guan et al., Orphanet J. Rare Diseases · 2024
• Neuropsychiatric rare diseases account for an estimated $4.2B in annual mental-health inpatient charges alongside a 7.7-year average diagnostic delay.Garrison et al., Orphanet J. Rare Diseases · 2025
• More than 700 childhood-onset treatable genetic disorders now exist, making timely diagnosis decisive.Wigby et al., NPJ Genomic Medicine · 2024

• Expert manpower is the largest cost component in genome-sequencing services, especially interpretation, reporting, and QA.Kingsmore et al., NPJ Genomic Medicine · 2024
• Manual, clinically informed variant interpretation cannot scale to current testing volumes; genetic counselors spend under a quarter of their time in face-to-face care.Duong & Solomon, European J. Human Genetics · 2025
• Variant interpretation remains time-consuming and disagreement-prone, and automated tools still require expert oversight.Costa et al., Briefings in Bioinformatics · 2025
• Genomic multidisciplinary teams increase diagnostic yield by 6–25% but do not eliminate the bottleneck.Ma et al., European J. Human Genetics · 2024

• AI is well suited to triage, variant prioritization, phenotype matching, and decision support, extending capacity into settings with limited genetics expertise.Ilić & Sarajlija, J. Personalized Medicine · 2025
• Generative AI applications span human medical genetics but require careful evaluation of data quality and representation.Changalidis et al., Frontiers in Genetics · 2026
• Automated variant interpretation is heterogeneous and context-dependent; VUS and difficult contexts still need expert review.Costa et al., Briefings in Bioinformatics · 2025
• Clinical AI deployment raises recurring concerns about bias, privacy, governance, and external validity, requiring human-in-the-loop controls.Hamamoto et al., J. Hematology & Oncology · 2026
• A patient-driven genetic education webtool was noninferior to traditional pretest counseling, supporting selective offloading of routine tasks.Loeb et al., JCO Precision Oncology · 2024

• First-line genome sequencing reduces time to diagnosis and treatment and streamlines utilization and cost, especially in high-acuity pediatric settings.Wigby et al., NPJ Genomic Medicine · 2024
• Rapid genomic sequencing in the ICU reached a 37% diagnostic rate, changed management in 26% of cases, and produced net savings of $14,265 per child tested.Kingsmore et al., NPJ Genomic Medicine · 2024
• TRIAGE-GS is a randomized trial testing whether starting genome sequencing at referral triage shortens time to diagnosis for suspected rare disease.Stanley et al., BMJ Open · 2025
• GT4BD is a randomized trial testing early whole-genome sequencing in inherited bleeding disorders, where the current pathway leaves ~half of patients undiagnosed.Chaigneau et al., BMJ Open · 2025

• VCF to ACMG-classified report in under minutes.Company-reported
• 200+ daily active researchers with zero paid acquisition.Company-reported
• 8.4 analyses per user on average.Company-reported

These are internal platform metrics, not peer-reviewed or independently audited findings. They are labelled company-reported so they are never mistaken for the externally sourced claims above.

• 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