Türkiye: A Genetic Crossroads Emerging as a Medical Genomics Hub
Straddling Europe and Asia, Türkiye’s long history of human migration and population admixture has created a genetically diverse landscape. With nearly 41 genetic centres spread across its 81 cities, the country is rapidly becoming a critical hub for medical genomics.
Leadership in Rare and Undiagnosed Disease Diagnosis
At the forefront stands Prof. Serdar Ceylaner, a leading medical geneticist and founder of the Intergen Centre for Genetics and Rare Diseases Diagnosis. His pioneering work in rare and undiagnosed diseases is driving major advances in both understanding these conditions and delivering personalized care that improves patient outcomes.
Türkiye’s Unique Genetic Challenges
Despite growing expertise and resources, the genetic testing ecosystem in Türkiye faces distinct challenges. As a regional genomics destination, it attracts patients from neighbouring countries requiring nuanced diagnostic approaches. High consanguinity rates—marriage among biological relatives—amplify the prevalence of rare recessive disorders and frequently yield complex, overlapping diagnoses.
In one random screening of consanguineous parents, recessive disorders appeared in 34% of cases, with 8.4% involving multiple recessive conditions simultaneously—sometimes up to ten distinct diagnoses in a single individual. “I once evaluated a patient with skeletal dysplasia whose features did not match any known disorder. It turned out to be two separate recessive skeletal conditions overlapping and mimicking several other diseases,” Prof. Ceylaner recalls.
Embracing Whole Exome and Whole Genome Sequencing
To navigate these complexities, Türkiye deploys whole exome sequencing (WES) and whole genome sequencing (WGS) more extensively than many other countries. For the most challenging cases, WGS offers a comprehensive genomic view that uncovers variants invisible to earlier methods. This precision shortens years-long diagnostic odysseys, prevents harmful side effects from inappropriate treatments, and guides targeted interventions.
“In Türkiye—where overlapping disorders frequently co-occur—and globally, complex autoimmune, immunodeficiency, and pharmacogenetic factors complicate care, comprehensive genetic assessments like WES and WGS improve quality of life and reduce healthcare costs.”
Cutting-Edge Sequencing with DNBSEQ-T7
Prof. Ceylaner’s team at the Intergen Centre relies on MGI’s ultra-high-throughput DNBSEQ-T7 sequencer—upgraded from the DNBSEQ-G400—to deliver rapid WES and WGS. Its high speed and cost efficiency perfectly suit neonatology and intensive care units, where timely diagnoses can be lifesaving.
“With the T7, we deliver results faster and at greater scale. It runs four chips simultaneously, so we can perform exome testing on one chip while running genome testing and oncology panels on the others,” Prof. Ceylaner explains. This capability enables clinicians to tailor treatments for critically ill new-borns, avoid unnecessary interventions, and empower families with vital genetic insights.
Integrating Genomics into Clinical Care
By integrating the DNBSEQ-T7 into its workflows, the Intergen Centre offers comprehensive analysis of both common and rare variants that underlie complex medical presentations. This fusion of research and clinical practice drives continuous progress in diagnosing and managing rare diseases across Türkiye.
“Many disorders mimic one another, and without precise diagnosis, complications from missed or inaccurate identifications arise. Early, accurate genetic diagnosis is far more cost-effective than chronic follow-ups based solely on clinical evaluations, which lack tools for differential diagnosis—especially crucial in Türkiye’s overburdened public hospitals.”
Advancing the Future of Rare Disease Care
As genomics technology advances and becomes more accessible, Prof. Ceylaner and his team remain dedicated to unfolding the complexities of rare and undiagnosed diseases. Their work shines a light on the unknown, brings clarity to families, and transforms the care of patients who have long awaited answers.
Listen to the DNA Today episode on how genomics is transforming rare disease diagnosis in Türkiye.
