Where Are We Today With Artificial Intelligence (AI) in Rare Disease Diagnosis and Care?
December 23, 2025 |
Discover how AI-powered tools are transforming rare disease diagnosis, patient care, and clinical decision-making.
Professor Gareth Baynam, MBBS, DCH, FRACP, PhD, AFAIDH
Rare Care Centre
Perth Children’s Hospital
Australia
Christy Rohani-Montez, PhD
Rare Disease Education Lead
Medscape Education Global
Christy: Gareth, you’re active in so many projects in rare disease, but I want to focus on AI here. I’ve been fascinated with facial recognition tools that can be used to identify the unique facial features that are known to be associated with some 40% of rare diseases. What are your thoughts?
Gareth: Thanks, Christy. Well, one thing to consider is that all the tools at the moment are really set up as diagnostic support tools. So, they’re set up to be used together with the clinician’s knowledge and in combination with say, a genetic diagnostic to get confirmation, not as a standalone thing. That said, some of the examples, particularly for facial recognition, include GestaltMatcher, Face2Gene, and Cliniface.
Christy: And what other AI-based approaches can help shorten the rare disease diagnostic odyssey?
Gareth: There’s no doubt that generative AI approaches have really moved the needle, and there’s now almost a flood of generative AI approaches for helping to analyze genomic and other data, so I think that that’s really promising.
However, still the most useful tools we have are what we were taught in medical school: take a good history, do a good examination, listen to the person and family in front of you, and ensure continuity of care. This basic approach has become even more important today because there are amazing AI-based technologies, but the scale at which they can generate right answers and the scale at which they can generate wrong answers have both gone up.
Christy: What are the main challenges in using AI in rare disease?
Gareth: The reality is that people use lots of AI tools now to try and make diagnosis. People will be on ChatGPT or other platforms, sticking in their symptoms just like they did with Google before. But there are “hallucinations” that generative AI makes up that can sound incredibly plausible. If you’re an expert, you might have the experience to say, “Well that’s just wrong,” or “that doesn’t sound right to me.” So, it’s thinking about how to use these things responsibly. There are so many people without a diagnosis. It’s trying to serve that unmet need, but we also need to do it in a way that maximizes benefit and minimizes harm.
Christy: What AI applications do you find most exciting for rare diseases?
Gareth: Where I think there are potentially more scalable solutions that will help across the whole rare disease experience is using AI to better plan care across the lifespan. Through the International Rare Disease Research Consortium (IRDiRC), we wrote a framework on this. We’ve shifted a lot of our focus to using AI to create personalized care plans for people across the entire lived experience including health, education, and disability service provision. We call this a cross-sector approach to care. This is really important because there are 10,000 different rare disorders, so how would you expect a clinician to suddenly be able to generate a care plan on a particular condition for a child of a specific age with X,Y, Z features? And that’s what we’re increasingly able to tackle with UTOPIA. UTOPIA is an acronym for Unlocking Treatment Options Personalized In-Time Access.
Christy: Tell me more about UTOPIA.
Gareth: Well, it’s about putting accurate information into the hands of clinicians in a faster way. Instead of having to take hours searching, we can generate that information from trustworthy sources using AI. That is then available for the clinician ahead of seeing the patient and family so they can work in a more informed, efficient, and personalized way together with the patient and family and then present that information in a way that is easier to understand and use. And a core principle of UTOPIA is to ensure that solutions are equitable and globally accessible, adapting to diverse environments and peoples. It is certainly not perfect, and we strive to continually improve the approach. We are always on the outlook for people with the time and talent to help.
The below diagram shows how features of a particular disease typically evolve over time [middle of the diagram]. UTOPIA puts information together by combining the power of the patient and family voice, the expertise of the clinicians, trustworthy sources of knowledge like medical publications and various other information sources, and AI. UTOPIA uses this to create computational natural histories of disease. It connects knowledge on a condition and an individual’s disease features at different points in time and how features evolve over time (temporal phenotypes). And this is linked through to their (functional) consequences, meaning how individuals are affected or are likely to be affected in terms of function. This combination is then used to plan care across multiple sectors including health, disability, education—so a cross-sector approach for coordinated care.
Christy: That sounds like it can really make a difference for rare disease patients and families. Thank you so much for the conversation, Gareth!
References
- https://www.sciencedirect.com/science/article/abs/pii/S0002929725001351
- https://globalrarediseasecommission.com/utopia-innovative-digital-ai-platform-improves-care-for-children-with-diagnosed-and-undiagnosed-rare-diseases/
- https://www.sciencedirect.com/science/article/pii/S2950008724000401
For more information, please contact Christy Rohani Montez PHD –
srohani@medscape.net
About Medscape Education
Medscape Education (medscape.org) is the leading destination for continuous professional development, consisting of more than 30 specialty-focused destinations offering thousands of free CME and CE courses for physicians, nurses, and other healthcare professional
This content was provided by Medscape Education
Company Details
Latest Content from Medscape Education
Medscape Oncology at ASCO 2025: Driving Innovation, Education & Better Patient Outcomes
Medscape Oncology is making a powerful impact at ASCO 2025, bringing seven high-impact symposia, new research insights, and the return of the Medscape Fellows Program—all aimed at educating the next...
Medscape Celebrates Eight Groundbreaking Publications at ATS 2025 International Conference
Medscape Education is proud to announce the presentation of eight innovative educational research publications at the American Thoracic Society (ATS) 2025 International Conference, held May 16–21 in San Francisco, CA....
The Future of CME in the Virtual World
The future of CME is here—and it’s personal, powerful, and primed for impact. In an era where clinician time is stretched thin, AI and digital innovation are transforming continuing medical...
Stronger Together: Medscape Education Celebrates Accomplishments in Rare Disease and Anticipates the World Health Assembly Adoption of the Resolution on Rare Diseases
Medscape Education is proud to be showcasing the power of working together in rare disease education and advocacy by co-hosting a side event at the 78th World Health Assembly in...
Intersection of Leadership and Advocacy: Driving Change Together for Women
We can’t talk about challenges to women’s reproductive health without acknowledging that we’re living in unprecedented times, say two mission-driven women’s healthcare leaders. Stephanie Sober, MD, MSHP, Global Director, Medical...
Shaping the Future of Hematology and Women’s Health
Changes in the healthcare world are likely to limit opportunities for young researchers, especially women.Three leaders in hematology — Belinda Avalos, Sarah O’Brien, and Marty Liggett — share the initiatives...
Are Clinicians Still Feeling the Burn? A Look at HCP Mental Health and Well-Being
One of the most critical topics to address in health care today is the mental health and well-being of physicians and other healthcare professionals. The 2020 COVID-19 pandemic shined a...
Medscape Women’s Health Joins Supporters in Sponsorship of SWHR’s 2025 Gala
Medscape Women’s Health is proud to announce its sponsorship of the Society for Women's Health Research (SWHR) 2025 Gala, which took place on Wednesday, April 30, 2025, celebrating 35 Years...
Dermatology in Focus: Medscape Sponsors SDNP’s 2025 National Conference
Medscape Education is a proud sponsor of the 2025 SDNP National Conference, taking place from April 30 to May 3 at the Renaissance Esmeralda Resort and Spa in Indian Wells,...
Medscape Education: Proud Friend of COA Sponsor at the Community Oncology Conference
Medscape Education is honored to be a Friend of COA sponsor at the Community Oncology Conference, taking place from April 28-30th in Orlando, FL. This partnership highlights our commitment to...