Reshaping Diagnosis and Care for Rare and Undiagnosed Diseases in Turkey

The Genetic Testing Landscape in Turkey

Turkey has a remarkably accessible genetic testing ecosystem:

• Genetic centers in 41 of 81 cities

• Short travel distances to access a geneticist

• Many tests (karyotype, microarray, panels) covered by national health insurance

• The main gap: whole genome and whole exome sequencing are typically self-paid

Turkey also serves as a regional hub for neighboring countries seeking advanced genetic diagnostics, supported by Intergen’s growing online rare disease hospital serving patients across North and South America, Europe, and the Middle East.

High Consanguinity = Higher Rates of Rare, Recessive Diseases

With consanguinity rates around 25% in Turkey, and even higher in surrounding regions, clinicians face:

• Much higher prevalence of autosomal recessive disorders

• Increased frequency of dual or multiple genetic diagnoses in a single patient

• Complex, overlapping phenotypes that cannot be solved with gene panels alone

As a result, whole exome (WES) and whole genome sequencing (WGS) have become essential first-line tools in Turkey, often outperforming traditional diagnostic guidelines developed for populations with low consanguinity.

Rapid Sequencing Technology is Changing Patient Outcomes

MGI provides high-throughput sequencers such as:

• G400: cost-effective high-volume WES/WGS

• G99: PE150 sequencing in just 12 hours

• T7 and T1+: ultra-fast genome sequencing generating terabases of data in ~24 hours

These tools enable Intergen to deliver:

• Rapid WES/WGS in 3–6 days

• Same-week diagnoses for critically ill newborns and intensive-care patients

• Preliminary actionable results within hours

This speed is life-saving for conditions where treatment decisions depend on immediate genetic clarification.

Bioinformatics + AI = Faster, More Accurate Diagnoses

MGI supports clinicians with customizable pipelines and AI-driven interpretation tools (e.g., AlphaCube) that help process massive sequencing datasets.

Intergen has also developed its own automated variant classification system, enabling:

• Early actionable findings

• Secondary/tertiary findings for comprehensive care

• Pharmacogenomic insights for safer medication use

Making Sequencing Accessible in Low-Resource Regions

MGI focuses on democratizing sequencing worldwide through:

• Portable, compact sequencers (e.g., E25, even tested at Mount Everest)

• Partnerships in Brazil, South Africa, and other regions

• End-to-end solutions from sequencing to data interpretation

• Stable, high-accuracy sequencing using DNBSEQ™ technology

Why Early Diagnosis Matters

Prof. Ceylaner highlights that early genomic diagnosis:

• Prevents complications from misdiagnosis

• Guides personalized treatment

• Reduces long-term healthcare costs

• Helps identify co-existing conditions (often 2–5 in a single patient)

• Supports safe surgery, anesthesia, and emergency care

• Enables carrier screening and preconception counseling, crucial in high-consanguinity populations

• Opens the door to newborn sequencing and population-level screening programs

The Future of Rare Disease Diagnosis

Both guests agree on the emerging trends:

1. Newborn Genome Sequencing

Countries around the world are piloting newborn WGS. Turkey has the infrastructure and patient need to be a strong candidate for national implementation.

2. Unified sequencing platforms

MGI’s new technologies combine short-read + long-read sequencing, enabling more accurate detection of structural variants, repeat expansions, and complex mutations.

3. AI-driven diagnostics

Automated pipelines will soon integrate:

• Genetic data

• Infection screening

• Clinical decision support
  to accelerate diagnosis in intensive care, emergency medicine, and rare disease clinics.

4. Global collaboration

Through networks like UDNI (Undiagnosed Diseases Network International) and ongoing partnerships with WHO, Intergen and MGI aim to expand access to rare disease diagnostics worldwide.

Conclusion

This episode highlights how Turkey, supported by advanced sequencing platforms from MGI and clinical leadership from Intergen, is becoming a global center for rare disease diagnosis. The combination of high consanguinity, broad access to geneticists, and accelerating sequencing technologies creates a powerful environment for genomic medicine that can inform healthcare systems around the world.