Last week, I co-organised the first symposium on digitalising genetic counselling from the initiative of our eCG Family Clinic project. Hosted at Paushuize in Utrecht, the day featured an interesting programme with international speakers who are experts on health technology in the genetics context.

Prof. Dr. Peter van Tintelen from the UMC Utrecht officially opened the symposium, warmly welcoming attendees and setting the stage for the day’s discussions. The keynote speech was then delivered by Dr. Yvonne Bombard, from the University of Toronto and Unity Health Toronto (Canada). She provided an overview of delivering genetic services digitally, discussing the evidence behind these practices and the challenges related to equity and patient preferences. Following the keynote, attendees had their first opportunity to network over coffee and visit the first of our two engaging poster sessions where researchers showcased the latest developments in genetic counselling technology.

The first session featured two compelling presentations focused on integrating technology into genetic counselling. First, Bethany Torr from the Institute of Cancer Research (UK) introduced BRCA-DIRECT, exploring the feasibility and acceptability of a digital pathway for mainstreaming breast cancer genetic testing in the UK. Dr. Jane Tiller from Monash University (Australia) followed with insights into digital informed consent and the considerations involved in an Australian DNA screening pilot study. Both speakers highlighted the critical role technology plays in enhancing the genetic testing process while maintaining ethical standards.

Session 2 provided an interdisciplinary perspective. Dr. Minha Lee from Eindhoven University of Technology shared her research on collaborative mind perception between humans and machines, discussing, amongst others, her work on “ask Vincent”. Prof. Dr. Dirk Heylen from the University of Twente followed with an overview of chatbots, tracing their evolution from Eliza to ChatGPT. These talks demonstrated how insights from other fields can help shape the future of genetic counselling through technological advancements but also emphasized that we should be mindful about potential effects on us as humans. The lunch break gave attendees time to relax, network, and continue conversations sparked during the morning sessions.

The afternoon resumed with a presentation on the DNA-poli prototype, a new tool designed to streamline the genetic counselling process that I gave together with Marlies van Lingen, MSc., from the UMC Utrecht. The presentation showcased the DNA-poli as a key outcome of our research project.

Session 3 focused on the ethical, legal, and social implications (ELSI) of using AI in genetic counselling. Prof. Mr. Dr. Corrette Ploem from the University of Amsterdam and Amsterdam UMC shared her legal perspective on chatbots in genetic counselling, discussing privacy, consent, and regulatory concerns. Dr. Mirjam Plantinga from UMC Groningen then elaborated on the responsible implementation of AI in genetic care, emphasizing the need for ethical safeguards in the use of such technologies.

The fourth session centered on virtual assistants and their impact on the accessibility of genetic services. Elen Siglen from the Western Norway Familial Cancer Centre presented Rosa, a chatbot developed to support genetic counselling, outlining its development, evaluation, and future possibilities. Following her, Prof. Dr. Amy Curry Sturm from 23andMe (USA) spoke about how digital tools are increasing access to genetic testing, with a particular focus on consumer-driven platforms like 23andMe. During the second coffee break, participants explored additional research during Poster Session 2, which featured more innovative approaches to the digital transformation of genetic counselling. 

The final interactive panel discussion brought together experts from various fields and a patient representative to address questions from the audience. This session provided a space for deeper exploration of the themes discussed throughout the day and sparked conversations about future directions for AI and digital tools in genetic care.

The Digitalising Genetic Counselling symposium successfully highlighted the potential of digital tools to revolutionize genetic counselling. From AI-driven virtual assistants to legal and ethical considerations, the symposium covered a broad spectrum of topics that are essential to the future of healthcare. The event sparked valuable discussions and created opportunities for (inter)national collaboration.