Daniel Riconda, MS, CGC
What is AI?
Artificial intelligence, or “AI,” refers to computer programs with the ability to solve problems, answer questions, and/or make decisions by performing tasks that typically require human intelligence or thought. If you have ever used a search engine such as Google or Bing, or asked Alexa or Siri a question, you have used some form of AI that provides previously scripted information, but recently, more advanced forms of “generative AI” such as ChatGPT, DeepSeek, Llama, Gemini, and Copilot have been introduced to the general public. These are tools designed to provide personalized, engaging, and efficient communication. Unlike the fixed responses of earlier versions of AI, generative forms of AI can create unique responses to a submitted prompt.
How can AI be used in relation to genetic counseling and genetic testing?
In the laboratory, AI can help the lab staff review large amounts of information to help interpret the results of genetic testing. When a change is identified in a gene, how do we know if it is harmless (benign), harmful (pathogenic), or if there is insufficient information to determine what effect, if any, it may have (referred to as a variant of uncertain significance or “VUS”)? By searching databases and other sources of information, such as published articles, AI improves the ability of laboratories to make sense of genetic test results and helps your genetic counselor explain what the results of genetic testing may mean.
In addition, genetic counselors may use generative AI to find support resources for patients or learn about the latest publications or research related to the condition for which you may have been referred. Although AI-based tools that help patients navigate the healthcare system or understand test results (sometimes referred to as chatbots) hold great promise and are already useful, they must be used with caution. They rely on information available through the internet, and may not always be able to determine what is accurate and reliable. The information these tools provide is also influenced by how you phrase/write your questions. It is often useful to rewrite or rephrase your prompt if the initial information you obtain does not fully address the question or questions you submitted. With this in mind, such tools are not a replacement for your healthcare practitioner, but they can serve as a complement to them and other sources of information you may have access to.
Should you use AI-based tools?
Whether you choose to use AI-based tools or not, you may find it helpful to become informed about the pros and cons of such tools. Common questions to consider when deciding whether you will use an AI-based tool include: how is the information I submit collected and stored; how do you know if the information is reliable; when I use such tools, what am I giving consent to; will information about me be shared without my permission; How do I create a prompt/question that will get me the information I am looking for?
If you are curious about AI, talk with your friends or healthcare providers about their thoughts on the use of such tools. Do your own research. Think about how and for what purposes you might feel comfortable using such tools.
AI will likely become a regular part of how patients access health information, including during the genetic testing process. Understanding its strengths and limits helps you use it wisely without replacing the trusted guidance of your healthcare team.
References
Jeon S, Lee SA, Chung HS, Yun JY, Park EA, So MK, Huh J. Evaluating the Use of Generative Artificial Intelligence to Support Genetic Counseling for Rare Diseases. Diagnostics (Basel). 2025 Mar 10;15(6):672. doi: 10.3390/diagnostics15060672. PMID: 40150015; PMCID: PMC11941130.
Luca S, Clausen M, Shaw A, et al. Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service delivery. Hum Genet. 2023;142(3):321- 330. doi:10.1007/s00439-022-02512-2
Solomon BD, Chung WK. Artificial intelligence and the impact on medical genetics. Am J Med Genet C Semin Med Genet. 2023;193(3):e32060. doi:10.1002/ajmg.c.32060.
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