Four ways to close the diagnosis gap.

Most rare disease forecasts start from a prevalence estimate and apply a diagnosis rate taken from expert opinion. That single assumption often decides whether a deal pencils out or a launch hits its curve, and it is usually the least examined number in the model. Benchmarking replaces it with an estimate you can defend.

• Diagnosed share today, in unique patients, with the method shown and every input referenced.
• The findable fraction separated from the theoretical ceiling, so targets reflect who can actually be reached.
• Three scenarios with investment-to-yield: what spend moves the number how far, benchmarked to comparable launches.
• An age-band split of the undiagnosed pool, separating near-term opportunity from the long horizon.
• An independent pressure-test of prevalence and diagnosis-rate conclusions from partners, vendors or prior analyses.

Sponsored testing, EHR prompts, reanalysis, screening and education are all reasonable tactics. The question is which of them matters for this condition and this patient journey, in what order, and how you will know it worked. The Blueprint answers that before budget is committed.

• A leakage map from referral to confirmation, including patients who were never tested and are therefore invisible to lab and registry data.
• Variant reclassification: projected VUS-to-diagnosis conversion, reanalysis cadence, lab reclassification and recontact terms, and loss to follow-up.
• Ranked levers: sponsored testing, EHR triggers, reanalysis, screening, cascade testing and education, each sized against the leakage it addresses.
• Compliance guardrails drawn from current OIG advisory opinions, built into program design from the start.
• Measurement defined up front, in unique patients, with the statistical tests specified before launch.

Programs end and budgets move. Guidelines, clinical pathways and population screening outlast both. This work builds the evidence and relationships that make earlier diagnosis the default, long after a launch campaign has finished.

• Guideline and society engagement, with KOL and advocacy mapping.
• Clinical pathway and diagnostic algorithm work designed to outlast any one campaign.
• Newborn screening strategy and evidence dossiers, including state-by-state nominations now that the federal ACHDNC has been terminated, and readiness for genomic newborn screening.
• Prioritization across states and countries, based on evidence readiness, program capacity and advocacy presence.

Many sponsors with one to three rare disease assets don’t have a diagnostics function, and can’t yet justify a full-time hire. Fractional execution provides a senior lead who works to your standards and review cycles, and who trains your people to own the work afterwards.

• Vendor, lab and data-partner diligence, selection and management, including sponsored testing RFPs.
• Internal deliverables built to your templates, standards and review cycles.
• Cross-functional liaison across medical, commercial, legal and advocacy.
• Handover: training staff to take ownership of the tactics, and field training on diagnostics for medical and commercial teams.