What Is the Role of AI in Genetic Counseling?

By Rasit Dinc

Artificial intelligence (AI) is rapidly transforming numerous sectors, and healthcare is no exception. Within the medical field, AI is poised to revolutionize clinical genetics, a discipline that grapples with a shortage of specialists and a vast, ever-expanding landscape of rare diseases [1]. The integration of AI into genetic counseling, a cornerstone of clinical genetics, promises to enhance efficiency, improve patient outcomes, and broaden access to care. This article explores the current and future roles of AI in genetic counseling, as well as the challenges and considerations that accompany this technological shift.

The Current Landscape: AI's Emerging Role

AI is already making inroads into genetic counseling, primarily by automating and augmenting specific tasks. One of the most significant applications is in risk assessment. AI algorithms can analyze a patient's personal and family history, along with lifestyle factors, to identify individuals at an increased risk for genetic diseases. This allows genetic counselors to prioritize their time and focus on high-risk patients who require more intensive counseling and support [2].

Furthermore, AI is proving invaluable in the interpretation of genetic test results. With the proliferation of genetic testing, the sheer volume of data generated can be overwhelming. AI-powered tools can help interpret these complex results, providing both clinicians and patients with clear, understandable, and up-to-date information about their genetic health. This not only streamlines the process but also allows genetic counselors to dedicate more time to patients with complex or positive results that necessitate in-depth discussion and psychosocial support [2]. For instance, machine learning algorithms like CADD (Combined Annotation Dependent Depletion) are now routinely used by clinical labs and researchers to analyze genetic variants, demonstrating the tangible impact of AI in the field [1].

The Future is Now: Transformative Potential of AI

The future of AI in genetic counseling holds even greater promise. AI has the potential to significantly reduce costs by automating administrative tasks such as writing consultation summaries and interacting with insurance payers [2]. This would free up valuable time for genetic counselors, allowing them to focus on the more nuanced aspects of patient care.

Moreover, AI can provide personalized educational and psychosocial support tailored to individual patient needs. This could involve helping patients cope with a new diagnosis or make lifestyle changes to mitigate their genetic risk. The use of virtual reality, powered by AI, could create immersive educational experiences, empowering patients to better understand their conditions and make more informed healthcare decisions [2].

Navigating the Challenges and Ethical Considerations

Despite its immense potential, the integration of AI into genetic counseling is not without its challenges. As a developing technology, AI is susceptible to errors, and the risk of misinformation is a significant concern. Studies have shown that generative AI models can sometimes provide incorrect information regarding genetic mechanisms, clinical diagnoses, and recurrence risks [3]. For example, one study found that an AI model incorrectly calculated the probability of having a child with Down syndrome, while another suggested the availability of treatments that are not yet possible [3].

These inaccuracies highlight the critical need for human oversight. The most effective and safest approach is for genetic counselors and physicians to use AI as a tool to gather information and support their clinical judgment, rather than as a replacement for their expertise [3]. It is essential for healthcare professionals to critically evaluate the outputs of AI models and to guide patients on the safe and responsible use of these technologies.

Conclusion: A Collaborative Future

Artificial intelligence is set to become an indispensable partner in the field of genetic counseling. By automating routine tasks, enhancing the interpretation of genetic data, and providing personalized patient support, AI can help address the current challenges of workforce shortages and long wait times. However, it is crucial to proceed with caution, acknowledging the limitations of the technology and ensuring that the human element remains at the heart of patient care. The future of genetic counseling will likely be a collaborative one, where the expertise of human counselors is augmented by the power of artificial intelligence, ultimately leading to better outcomes for patients and their families.

References

[1] Duong, D., & Solomon, B. D. (2025). Artificial intelligence in clinical genetics. European Journal of Human Genetics, 33(3), 281–288. https://www.nature.com/articles/s41431-024-01782-w

[2] Wong, K. (2023, July 27). How Artificial Intelligence will help Genetic Counselors. Perspectives. https://perspectives.nsgc.org/Article/how-artificial-intelligence-will-help-genetic-counselors

[3] Jeon, S., Lee, S.-A., Chung, H.-S., Yun, J. Y., Park, E. A., So, M.-K., & Huh, J. (2025). Evaluating the Use of Generative Artificial Intelligence to Support Genetic Counseling for Rare Diseases. Diagnostics, 15(6), 672. https://pmc.ncbi.nlm.nih.gov/articles/PMC11941130/