Navigating genetic testing regulations for clinical trials in the US, UK, and Europe

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The healthcare sector is constantly changing, with cutting-edge medical equipment, life-changing drugs, and innovative procedures evolving to provide care to patients around the globe. Genetic testing has become an integral tool within the sector over the past few years, offering new ways to understand and diagnose conditions, while providing a gateway to more personalised treatment options.

As the role of genetic testing in healthcare grows, focus is being drawn to regulatory oversight, including Food and Drug Administration (FDA) approval in the United States, UKCA marking in the United Kingdom, and CE marking in Europe. In this blog post, we will explore genetic testing’s significance in clinical trials and the regulatory requirements across the US, UK, and Europe.

Genetic tests in clinical trials

At the heart of the movement towards precision medicine lies the critical role that genetic testing plays in tailoring clinical trials to individual patients. By analysing an individual's genetic makeup, researchers can now identify specific genetic variations that influence disease susceptibility, treatment responses, and adverse reactions. Three major ways that that testing has impacted clinical trials are as follows:

  1. Genetic testing allows researchers to select the most suitable candidates for a particular treatment and use more targeted participant groups within clinical trials, increasing the accuracy of results, reducing variability, and streamlining the drug development process.
  2. Genetic testing enables researchers to more deeply understand how DNA affects disease progression and treatment responses. By identifying genetic markers associated with specific diseases, researchers can develop targeted interventions that address the underlying causes, leading to more effective treatments and improved patient outcomes.
  3. Genetic testing allows for the identification of patient subgroups that may respond differently to a given treatment, allowing for more personalised medicines based on patients' genetic profiles. This not only optimises treatment success but also minimises unnecessary exposure to interventions that are unlikely to be effective for certain patients. 

As clinical trials continue to evolve, genetic testing's ability to refine patient selection, stratify populations, and uncover new treatments will undoubtedly shape the future of medical research and contribute to the development of highly tailored, effective healthcare plans.

Regulatory oversight

The regulatory landscape for genetic tests varies between the US, UK, and Europe due to different jurisdictions and regulations.

United States:

In the US, the FDA oversees medical device safety and efficacy, including genetic tests. This regulatory system covers both Laboratory Developed Tests (LDTs) and In Vitro Diagnostic (IVD) Tests.

  • LDTs: The FDA has increased its oversight of high-risk LDTs over time, necessitating collaboration between labs and the FDA to determine regulatory requirements.
  • IVD Tests: IVD tests must undergo a rigorous FDA review. Manufacturers need to demonstrate analytical and clinical validity as well as clinical utility to ensure the genetic variants identified are linked to diseases and improve patient outcomes.

The CMS, or Centers for Medicare & Medicaid Services, also regulates clinical laboratories, including laboratories conducting clinical genetic testing, using the guidelines of the Clinical Laboratory Improvement Amendments (CLIA).

United Kingdom:

The UK has its own regulatory framework post-Brexit, overseen by the Medicines and Healthcare Products Regulatory Agency (MHRA). The UKCA mark is used to indicate compliance with the UK's medical device regulations. This is important for genetic testing for research as well as direct-to-consumer genetic testing, as both need to meet certain requirements before they can be used by patients or consumers.


In Europe, the CE marking indicates conformity with European Union regulations for medical devices, including genetic tests. The In Vitro Diagnostic Regulation (IVDR) also aims to establish more consistent standards for IVD tests across member states. It requires device manufacturers to conduct clinical performance studies and provide evidence of safety and performance in line with a device’s assigned risk class.

Balancing innovation and safety

Both sides of the Atlantic must balance innovation with safety and accuracy. Genetic testing's evolving landscape underscores the need for continuous dialogue among regulators, researchers, and stakeholders. Striking this balance ensures the advancement of genetic testing without compromising patient safety and quality. While specific regulatory bodies and marks may differ, it’s critical to maintain high standards and foster innovative advancements in order to improve healthcare on a global scale.

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