The final report of the Rare Lives and Rare Diseases Workshop held by the Rare Diseases Federation in Ankara in March 2026 summarises the field's most structural problem in a single figure: an average of 6-7 years to correct diagnosis, with more than 8 physician visits along the way. The report names this a "diagnostic odyssey" and states plainly that every day of delay is a clinical loss. This article covers the whole field in the report's light — from the structural causes of the odyssey through the political economy of early diagnosis, the solution architecture, and the company perspective.
What a rare disease is, and how big the field is
A rare disease is commonly defined as affecting fewer than 1 in 2,000 people; the ultra-rare distinction in European regulation describes even lower thresholds. Individually rare, collectively enormous: one in every 12-20 people is affected by a rare disease at some point; 5-8% of the world's population falls in this group — around 5-6.4 million people in Türkiye. As the Summit report stresses, "rare" is misleading in aggregate terms; most of these diseases are genetic in origin, lifelong, progressive, and carry a high burden of mortality and disability.
The diagnostic odyssey: why does it take 6-7 years?
The causes of diagnostic delay are structural and intertwined. First, awareness and education gaps: rare-disease symptoms mimic common ones; a disease not in the physician's first diagnostic set escapes notice. Second, coding and data infrastructure: current ICD coding cannot form specific diagnostic groups for rare diseases, rendering data invisible. Third, the missing reference-centre layer: patients are not routed to the right specialist; as the workshop report notes, university centres have become the focus of direct patient applications instead of policy production — tangible proof of the guidance vacuum. Fourth, genetic counselling and test access: the point where the odyssey breaks is usually genetic testing, but access and referral inequality lengthens the journey. Fifth, chronic uncertainty: families describe "constantly changing diagnoses, repeated genetic screenings"; uncertainty itself is an independent psychosocial burden.
Why delay is irreversible: the chain of clinical harm
The paediatric nephrology example leads the workshop: in progressive rare diseases, every delay pushes the clinical picture towards irreversible stages. In paediatric nephrology, delay can trigger the chain of irrecoverable loss of kidney function, growth failure and end-stage renal disease. Interventions after that point are far harder to manage for patient health and system capacity alike. Diagnostic delay is not lost time — it is a lost treatment window; that is what the report's "every second is critical" means.
The political economy of early diagnosis: drug cost vs total cost
The framing from Hacettepe University strikes the heart of the access debate: discussions of high-cost medicines must be read together with the total cost of disease progression. Early diagnosis and treatment — even including drug costs — are far more economical than dialysis and transplantation in end-stage organ failure. Holistic cost analysis is the more sustainable model for the economy. This frame belongs in reimbursement files too: when the budget impact of rare-disease products is presented against the "cost of progressed disease", value perception at the payer changes.
The solution architecture: centres of excellence and coordination
The report's proposed structure is clear: reference (excellence) centres specialised in disease groups and authorised patient-based, accredited by a high-level institution such as TÜSEB, with inter-centre coordination provided by a central unit. The structure is also positioned as the main source of the quality data that will feed the national registry. One of the workshop's sharpest findings: participant prioritisation began focused on "lack of awareness" but concluded that the true deficit is lack of coordination — coordination understood not merely as a medical process but as a multi-dimensional structure covering referral from diagnosis to treatment, participation in social life, education and employment.
Screening programmes: the profile is changing permanently
The Summit report documents that newborn and premarital screening programmes have permanently changed Türkiye's rare-disease profile. Newborn screening catches preventable or preventable-treatable conditions such as phenylketonuria and congenital hypothyroidism at birth; premarital carrier screening is the core of the preventive strategy in Türkiye's demography with high rates of consanguineous marriage. The report stresses that public-awareness and education programmes are the most effective long-term strategy for preventing rare diseases; expanding screening in the "preventable" category reduces both individual-health and public-finance burdens.
The SMA case: proof of the early-diagnosis principle
The report's strongest case evidence is SMA. SMA Type 1 is among the most severe rare diseases; yet Türkiye's treatment success in this area is described as "a medical revolution". The field-based assessment states there is currently no unmet SMA treatment need in the country. The revision of SMA principles in the SUT (nusinersen, risdiplam) shows criteria refined to the patient. The Delphi Consensus Report, prepared with ~30 neuromuscular centres from Germany, Austria and Switzerland, supports the early-diagnosis-and-rapid-intervention principle at the level of scientific consensus. The lesson: when early-diagnosis infrastructure exists, even high-cost therapies convert into sustainable success.
The company perspective: evidence, time and modelling
- Diagnostic infrastructure produces evidence: screening and reference centres are the most reliable source of prevalence and patient-flow data — the inputs of the reimbursement file. In rare-disease files, local data always beats assumptions imported from global models.
- Time is a clinical endpoint: lengthy reimbursement processes can close the clinical-benefit window even when funding is secured; the report calls this both a humanitarian and an economic loss. Every month in file preparation should be priced as clinical outcome.
- The early-diagnosis scenario belongs in the model: in budget-impact analyses, comparing post-early-diagnosis patient cohorts with progressed-disease costs is the file's strongest page. Instead of "this product is expensive", the narrative "late diagnosis is expensive" can be built.
- Awareness programmes grow access: disease-awareness work shortens time to diagnosis and reveals the market's true size — while strictly respecting promotion-law boundaries (no communication outside the approved indication).
What institutions propose: the report's recommendation list
The workshop's institutional recommendations are a route map for companies: carrying the definition and prevalence threshold clearly into legislation; binding national registry entry to reimbursement; establishing reference-centre accreditation through TÜSEB; appointing data officers; expanding screening programmes; implementing the coordination-centre architecture. Each item defines new responsibility — and new work — for infrastructure providers and evidence producers, companies included.
Breaking points of the odyssey: a process map
To break the diagnostic odyssey one must map its stages. Stage 1 — first contact: the family presents to the system with symptoms; the absence of rare-disease suspicion here is normal — red-flag training and the family physician's gatekeeping role are critical. Stage 2 — drift: diagnostic attempts and revisions; wrong labels, unnecessary tests, growing waits. Stage 3 — threshold crossing: arrival at a specialist centre, often driven by family or physician persistence; the genetic-testing decision. Stage 4 — confirmation: genetic confirmation and counselling; diagnosis. Stage 5 — management: access to treatment, follow-up and social support. The reported 6-7 year average accrues mostly in Stage 2; each stage shortens with a different intervention: awareness in Stage 1, smart referral and digital decision support in Stage 2, genetic-counselling access in Stage 3, laboratory capacity in Stage 4, coordination in Stage 5. Policy design must follow this map: the generic goal "shorten time to diagnosis" is unmeasurable until split into stage-level targets.
Components of the reference-centre model
The excellence-centre model foreseen by the report rests on five components. (1) Authorisation: centres authorised per disease/disease group against patient-volume, multidisciplinary-staff and infrastructure criteria — an "every centre is a reference for everything" approach dilutes quality. (2) Accreditation and sustainability: periodic accreditation by an upper institution such as TÜSEB, renewed against performance indicators. (3) Network and referral protocols: defined routes from primary/secondary care to centres, with teleconsultation support. (4) Data production: each centre a node of the national registry, recording a standard minimum data set. (5) Education and research mission: the centre as a clinical and an educational/publication producer. These components are also the company's collaboration map: in which centre, for which disease group, can registry and focus-group work be run; which centre contributes to the advisory board — the plan is built on this.
The economics of early diagnosis: a calculation frame
To carry the report's finding into the file, the calculation frame is as follows. In a progressive rare disease two paths are compared. Path A (late diagnosis): diagnosis in year 6; organ damage has developed; costs of advanced-stage treatment + dialysis/transplantation + disability care over many patient-years. Path B (early diagnosis): diagnosis in year 1 via screening/rapid genetic testing; specific therapy starts early; advanced-stage costs are largely avoided, but therapy cost is paid early and long. The analysis compares the total cost of the two paths (therapy + complications + care + productivity loss) against the health outcome (QALY). For rare-disease products this frame is the file's strongest page against the "expensive product" argument: the cost of late diagnosis is invisible but real. Building this frame on local data (expert-opinion resource use, SUT costs) is exactly the intersection of the model-adaptation and expert-opinion services.
Awareness programmes and the ethical boundary
The public instrument of the early-diagnosis goal is awareness programmes: public and physician education, disease days, media partnerships and NGO campaigns. For companies, however, awareness activity walks the most sensitive boundary of promotion law: disease awareness is free, product promotion is prohibited. A well-designed programme carries no product name, brand or indication content; its educational content is approved by an independent scientific committee; NGO relations are disclosed. Managing this boundary protects the programme's credibility and effectiveness; crossing it ends in Agency sanctions and loss of public trust. In rare diseases, awareness grows the market itself by increasing diagnoses — programmes run within the ethical frame serve the company's interest too.
Frequently asked questions: rare diseases and diagnosis
- Does Turkish legislation define rare disease? The 1/2000 threshold is adopted in the Action Plan; per the workshop reports its reflection in binding regulation remains unclear.
- Why does the ultra-rare distinction matter? Per Orphanet, ~85% of diseases fall below the threshold; a narrow definition risks leaving this group outside access.
- What intervention most shortens diagnosis time? Per the report, specialised reference centres and screening programmes; continuity requires the coordination architecture.
- Which diseases does newborn screening cover? Programmes expand country by country; phenylketonuria and congenital hypothyroidism are Türkiye's classic core, with expansion on the reports' agenda.
- May companies run awareness programmes? Yes; but content must stay at disease level and not turn into product promotion (the promotion-law boundary).
- How is early diagnosis's financial return proven? By comparing total cost (therapy+complications+care) of early versus late diagnosis scenarios; built on local data, it is the file's strongest page.
- Can company data be added to registries? Through registry projects with NGOs and centres, contribution is possible under payer oversight and ethical principles.
- Is the SMA experience transferable? Partially; SMA's success combines screening + early treatment + data infrastructure — each component has its local specifics.
Comparison with the world: where does Türkiye stand?
Diagnosis times are daunting globally — even in developed countries rare-disease diagnosis takes years; Türkiye's 6-7 year average sits close to the global picture. Three dynamics create difference: screening coverage (Iceland and several US states lead in expanded newborn screening), the institutional maturity of reference networks (in Europe, the ERN model — cross-border centre networks by disease group) and data-infrastructure depth (Orphanet and national registries). Türkiye's advantages are its digital infrastructure (e-Nabız) and NGO dynamism; its open areas are network institutionalisation and coordination. The reports' trio — excellence centres + TÜSEB accreditation + a coordination unit — reads precisely as a design for that open area; the ERN's cross-border cooperation experience is the closest precedent for a Turkish network design.
Step by step: analysing the impact of diagnostic delay
Analysing diagnostic delay for your product is a six-step exercise. Step 1 — Patient journey map: the typical route to diagnosis in the indication and the Turkish average duration; sources: expert opinion, literature, registry data. Step 2 — Inventory of delay costs: unnecessary tests, wrong therapies, emergency visits, productivity loss during the delay, each priced at SUT costs. Step 3 — Costs of progressed disease: post-organ-damage costs in the late-diagnosis scenario (dialysis, transplantation, intensive care, disability care). Step 4 — The early-diagnosis scenario: diagnosis moves to year 1 via screening/rapid testing; early-treatment costs and avoided costs. Step 5 — Comparison and ICER: total cost and QALY differences of the two scenarios; sensitivity analysis. Step 6 — File language: writing the finding in decision-maker sentences — "late diagnosis exceeds the cost of early treatment X-fold". This analysis produces the strongest page of rare-disease files and grounds the rationale of awareness programmes in evidence.
The company's reference-centre collaboration plan
In rare diseases, collaboration with reference centres scatters when unplanned and becomes a strategic asset when planned. A four-pillar plan: Pillar 1 — Mapping: which centre is expert in which disease group; a centre inventory with patient volume, registry infrastructure, publication profile and openness indicators. Pillar 2 — Relationship building: contact through medical affairs on a scientific agenda; not sales but a shared evidence language. Pillar 3 — Joint work: focus-group resource-use studies, registry projects, advisory-board memberships, congress sessions — each with its legal and ethical frame (promotion law, transparency) built upfront. Pillar 4 — Meeting the payer: structured transfer of centre data and expert opinion into files and payment-model proposals. The plan yields three assets: data (local evidence), visibility (recognition in the expert community) and trust (the payer seeing the firm as part of the system). In rare diseases, access is most often won with the third asset.
Sources and key takeaways
Core sources: the Workshop 2026 and Summit 2026 final reports (nadirhastaliklarzirvesi.com); Orphanet data; the Delphi Consensus Report (neuromuscular centres); international screening literature. Recommended monitoring: Federation and Directorate announcements, Action Plan progress reports, ERN publications. Our key takeaways: (1) the 6-7 year odyssey is structural and shortens only through stage-level intervention; (2) early diagnosis is more economical than progressed-disease care even including drug costs — build that calculation into the file; (3) the solution architecture is a trio: excellence centres + accreditation + coordination; (4) screening programmes have permanently changed the profile (the SMA case); (5) for companies, diagnostic infrastructure is the most reliable source of evidence and access.
Practical summary: turning the odyssey into the file
The entire article reduces to five concrete company actions. Action 1 — Measure the odyssey in your indication: average time to diagnosis, number of physician visits and the misdiagnosis chain; sources are expert opinion and literature. Action 2 — Price the delay: cost the "late-diagnosis scenario" with pre-diagnostic waste and progressed-stage costs at SUT prices. Action 3 — Build the early-diagnosis scenario: diagnosis moving to year one through screening/rapid testing, early-treatment costs and avoided costs; compare the two scenarios in the ICER frame. Action 4 — Work with the reference-centre network: make centres evidence partners in patient registries, focus groups and advisory boards. Action 5 — Bind the narrative to the file and programmes: the "late diagnosis is expensive" calculation is the common language of your reimbursement file, awareness programmes and payer meetings. These five actions turn the diagnostic odyssey from an article topic into the strongest page of your market-access strategy.
Conclusion
The seven-year diagnostic odyssey is rare diseases' most invisible cost; the report proves its clinical and economic price. Early diagnosis becomes possible through centres of excellence, screening programmes and a coordination architecture — and companies are the evidence-producing stakeholders of that architecture. For data supply, prevalence analysis, advisory-board organisation and model adaptation in rare diseases, see our expert opinion service; reach out.