From a regulatory standpoint, companies seeking to commercially market genetic test products in the EU must comply with the IVDR. Gene tests are classified as the in vitro diagnostic (IVD) devices and require CE marking to demonstrate conformity with safety and performance requirements. This necessitates that manufacturers implement a quality management system and maintain diligent post-market surveillance.

Where a diagnostics company has not yet fulfilled these requirements, it may, in collaboration with a hospital, pathologist, or other health institution, provide genetic testing via the exemption for "self-developed tests." This pathway is analogous to Laboratory Developed Test (LDT) designation in the U.S. However, this exemption is subject to strict conditions, including that the test is manufactured and performed in the same health institution under relevant quality management standards, such as ISO 15189 for medical laboratories. There must also be justification that the patient's needs cannot be met by an equivalent CE-marked IVD available on the market, accompanied by documentation, oversight, and risk management requirements.

While these pathways may allow genetic testing to be performed in the EU from a regulatory perspective, receiving reimbursement from payors is a separate, and often challenging, matter. Reimbursement must be assessed on a country-by-country basis, as it is governed by the national laws of each EU Member States. This presents various options and hurdles; for example, where a diagnostics company already offers a commercial gene test product with a CE marking, such as a gene test kit, the business model may simply be to sell the product to hospitals, pathologists, and other gene testing health institutions. However, this is only permissible when customers receive reimbursement under local reimbursement laws and rules, which is not always the case, particularly for innovative tests for which reimbursement has yet to be established. The pathways to obtain reimbursement can be time-consuming and require agreement from medical and reimbursement stakeholders.

Companion diagnostics for newly launched pharmaceutical products often have a reimbursement advantage, as they are a prerequisite for the companion therapeutic product; consequently, reimbursement procedures in some countries align for the diagnostic and therapeutic components.

Further, in several Member States, gene testing services can only be reimbursed to diagnostic service providers, often only to those who are accredited by local reimbursement authorities. Thus, a gene test developer (usually supported by a vast database for biostatistics analysis) must either become an accredited diagnostic service provider itself, which often requires maintaining a local lab, and employing specifically qualified personnel, or, whereas this may be impossible in jurisdictions where the law requires that health services outside of hospitals are only performed by self-employed individuals or practices, a diagnostic company must partner with such individuals/practices.