Whole genome sequencing added to Estonia’s national list of health care services
Estonia operates a solidarity-based, single-payer public healthcare system in which the Health Insurance Fund (Tervisekassa) finances healthcare services nationwide. As of 1 January 2026, whole genome sequencing is included in the national list of health care services and is provided at no cost to the patient when medically indicated.
The introduction of WGS builds on Estonia’s long-standing experience in medical genetics. Whole exome sequencing was incorporated into the list of health care services in 2014. Under the updated framework, genome sequencing will replace exome sequencing as the most comprehensive diagnostic approach for inherited diseases within Estonia’s public healthcare system.
Sander Pajusalu, MD, PhD, Head of the Genetics and Personalised Medicine Clinic at Tartu University Hospital and associate professor at University of Tartu and a principal investigator within TeamPerMed, commented: “This is an excellent outcome and a major step forward for clinical genetics in Estonia. Moving from exome to genome sequencing allows us to address complex diagnostic cases with greater precision. Currently short-read sequencing is used in clinic, but looking forward, we hope that, with the support of TeamPerMed, we will be able to introduce long-read sequencing technologies into patient care.”
Genome sequencing is reimbursed when clinically indicated for the diagnosis of hereditary diseases or syndromes of unclear origin, based on a decision by an expert committee that includes at least the treating physician and a medical geneticist. Moreover, previous reimbursement code for exome sequencing was available to use only for diagnosing childhood onset diseases, while now the age-of-onset restriction has been lifted for genome sequencing providing new diagnostic avenues also for adult medicine.
The service may be applied up to three times per case to support family-based interpretation, reflecting standard practice in clinical genetics. Sequencing must be performed in accredited laboratories. The law also states that genome sequencing data should be stored for thrirty years to facilitate reanalysis for additional diagnostic tests.
