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Evolving Regulations and Guidelines in Genetic Testing

by Marnie Willman | Nov 25, 2024 | Clinical Diagnostics Insider, FDA-dtet

Understanding the regulatory landscape of genetic and genomic testing, and its impact on clinical practice

Scientist pipetting sample into a vial for DNA testing. — iStock, Cavan Images

The landscape of genetic and genomic testing is undergoing rapid transformation, driven by advancements in technology and evolving regulatory frameworks. As the FDA plays a crucial role in overseeing the approval and regulation of genetic tests, clinicians must navigate an increasingly complex environment to effectively integrate these tools into patient care. This article explores the importance of FDA guidance in shaping genetic test availability, discusses the implications for clinical practice, highlights the emerging guidelines that clinicians should consider when ordering genetic tests, as well as how laboratorians can support clinicians.

The role of FDA approvals in genetic testing

FDA approvals are essential for ensuring that genetic tests are accurate, reliable, and clinically relevant. The agency evaluates tests for their analytical validity (how well they measure the intended genetic variant), clinical validity (the relationship between the variant and the disease), and clinical utility (the impact of test results on patient care).¹ By maintaining rigorous standards, the FDA helps ensure that genetic tests contribute meaningfully to diagnosis and treatment decisions.

While this article won’t cover specific approvals in-depth, it’s important to acknowledge that recent FDA clearances—such as the one for Genetic Signatures’ molecular diagnostic solution for gastrointestinal parasites—represent broader trends in genetic testing technology.² These approvals reflect a shift toward more precise, efficient diagnostic tools that can improve patient outcomes.

Impact of FDA guidance on genetic testing availability

The FDA’s guidance plays a pivotal role in shaping the landscape of genetic testing. With the rapid advancement of technologies such as next-generation sequencing (NGS) and artificial intelligence (AI), the regulatory framework must adapt to ensure that new tests meet established standards for safety and effectiveness. The agency is increasingly working with test developers to streamline the approval process, encouraging innovation while safeguarding patient welfare.³

New guidelines influenced by FDA approvals

The approval of new genetic tests often leads to updates in clinical guidelines from professional organizations such as the American College of Medical Genetics and Genomics (ACMG) and the American Society of Clinical Oncology (ASCO). These updates are crucial for ensuring that clinicians are informed about the most appropriate uses of genetic testing in light of new FDA approvals.

For instance, the introduction of multigene panels for hereditary cancer testing has prompted changes in guidelines from the ASCO related to cancer risk assessment. Recommendations now emphasize broader testing for individuals with certain risk factors, allowing for more personalized screening and intervention strategies.⁴ Similarly, as new FDA-approved tests become available, clinicians can diagnose genetic conditions earlier, leading to more timely and effective interventions.

These evolving guidelines underscore the importance of keeping abreast of new FDA approvals and their implications for clinical practice. Clinicians should regularly consult updates from relevant professional organizations to ensure they are using the most current recommendations when ordering genetic tests.

Practical considerations for laboratorians

As the number of FDA-approved genetic tests continues to grow, laboratories play an essential role in supporting clinicians by providing accurate, high-quality test results and interpretation. Lab leaders must stay informed about new developments in genetic testing and work closely with clinicians to ensure the appropriate use of these tests in patient care. This collaboration is crucial in navigating the complexities of genetic testing, including determining the right test for specific clinical scenarios and delivering results that clinicians can interpret accurately.

A key approach for labs is to foster strong relationships with clinicians and genetic counselors. By working together, lab professionals can help clinicians understand complex genetic data and its relevance to diagnosis or treatment, ensuring that patients receive actionable information tailored to their needs.

Labs also need to consider practical factors such as test availability, cost, and insurance coverage when making recommendations to clinicians. With more FDA-approved tests becoming available, insurers may expand coverage, making genetic testing more accessible.⁵ However, labs must ensure that the tests they offer are clinically validated and aligned with the latest guidelines to provide the most relevant and reliable information for patient care.

The evolving landscape of genetic testing

Looking ahead, the future of genetic testing is filled with potential as technological advancements continue to reshape the field. The FDA is expected to approve an increasing number of tests that leverage innovative technologies, including AI-driven diagnostics and liquid biopsy-based tests.^6,7 These advancements hold promise for improving the speed and accuracy of genetic testing while reducing the invasiveness of sample collection.

However, concerns remain about whether the FDA’s current regulatory framework can keep pace with the rapid evolution of AI technologies in health care. Experts have pointed out that the existing system may struggle to address the complexities and speed of AI innovation, potentially hindering the timely introduction of AI-based tests.⁶ As the FDA adapts to these emerging technologies, it will be critical for the agency to refine its regulatory approach to ensure that these tests meet the highest standards of safety and efficacy.

The evolving regulatory landscape will play a pivotal role in shaping the future of genetic testing in clinical practice. Clinicians and labs that stay informed about regulatory updates and emerging guidelines will be better positioned to leverage these advancements and improve patient outcomes. Ongoing collaboration between regulatory bodies, test developers, and healthcare providers will be essential to unlocking the full potential of precision medicine as the field continues to evolve.