Evidence Trail

• 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
• Expert manpower is the largest cost component in genome-sequencing services, especially interpretation, reporting, and QA.Kingsmore et al., NPJ Genomic Medicine · 2024
• Genomic multidisciplinary teams increase diagnostic yield by 6–25% but do not eliminate the bottleneck.Ma et al., European J. Human Genetics · 2024

• More than 30M Americans (roughly 1 in 10) live with a rare disease.NORD Rare Disease Facts · 2026
• 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
• 300–400M people globally live with rare diseases.The Lancet Global Health · 2024
• Nearly 70% of rare diseases present in childhood.The Lancet Global Health · 2024
• Delayed diagnosis adds $86,000–$517,000 in avoidable per-patient costs across the seven rare diseases studied.EveryLife Delayed Diagnosis Study · 2023
• U.S. rare disease burden approaches $1T annually across direct, indirect, and non-medical costs (2019 data).EveryLife National Economic Burden Study · 2022

• 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
• Roughly 1,965 U.S. MD clinical genetics diplomates are certified.ABMGG Diplomate Statistics · 2023
• 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
• Precision genomic testing demand is projected to grow rapidly through 2030 in the U.S.Grand View Research · 2024
• Variant interpretation remains a major specialist time bottleneck in real workflows.Genetics in Medicine · 2016

• 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
• 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
• 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
• 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
• More than 700 childhood-onset treatable genetic disorders now exist, making timely diagnosis decisive.Wigby et al., NPJ Genomic Medicine · 2024

• Generative AI applications span human medical genetics but require careful evaluation of data quality and representation.Changalidis et al., Frontiers in Genetics · 2026
• 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
• 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
• Automated variant interpretation is heterogeneous and context-dependent; VUS and difficult contexts still need expert review.Costa et al., Briefings in Bioinformatics · 2025
• 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

• 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
• 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

• A standard dashboard run evaluates the first 50 variants in the file, in file order. It does not pick the 50 most important, and it does not read the rest of the file.Company-reported

This describes how the product behaves today. It is a company statement, not a peer-reviewed or independently audited finding, and it is labelled company-reported so it is never mistaken for the externally sourced claims above.

• People with undiagnosed rare diseases often face prolonged uncertainty and repeated testing.NORD Undiagnosed Diseases · 2024
• Families can spend years in diagnostic odysseys before receiving actionable answers.EveryLife Delayed Diagnosis Study · 2023