In a field as deeply human-centered as genetic counseling, generative AI may seem like a surprising partner. Yet, this powerful new technology is already reshaping healthcare workflows and unlocking new possibilities for improving patient access to genetics care. A recent article in Trends in Genetics, “Generative AI: A Partner for Genetic Counseling,” co-authored by Genome Medical’s own Colleen Caleshu, offers critical considerations for ethical, inclusive, and impactful AI integration into genetic counseling.
In this follow-up blog post, we continue the conversation with Colleen to offer deeper insight and address questions that healthcare professionals may have after reading the original article. Whether you’re exploring early-stage adoption or already using AI tools in your practice, Colleen’s perspective offers valuable insights and reflections on the evolving role of AI in genetic counseling.
Let’s dive in.
Q: How should the field think about ethics and equity when integrating AI into genetic counseling?
This is one of the most important questions we can be asking right now. In our article, we emphasize that generative AI should not just be effective—it must also be ethical and equitable. If we’re not intentional, there’s a real risk that AI tools could exacerbate existing disparities in access to care or reinforce harmful biases embedded in healthcare data.
Genetic counseling already faces challenges with equitable access. That means we have to be especially careful that AI doesn’t further entrench who gets high-quality care and who doesn’t. We need to design these tools with all patients in mind—from language accessibility to cultural relevance—and set clear guardrails for when AI is appropriate and when human expertise is essential. Transparency is also critical: patients should know when they’re interacting with AI.
Q: How are genetic counseling practices beginning to integrate generative AI tools?
Generative AI has made its way into many hospitals, clinics, and genetic testing laboratories. In talking with genetic counselors around the country, it is clear that many are applying healthcare AI tools to their work.
At this fall’s National Society of Genetic Counselors Annual Conference, I am moderating a session on just this topic, with early-adopters of generative AI speaking about their experiences. This includes genetic counselors using a variety of AI-based healthcare tools such as ambient scribes, in-basket responders, risk-assessment systems, and applications to identify patients in need of genetic counseling. Our own Kiley Johnson will share how our team has leveraged generative AI to more efficiently produce accurate and high-quality disease content for genetic counseling clinic notes.
Q: Can AI appropriately handle the counseling needs of patients?
The genetic counseling field is much earlier in development and use of generative AI tools that patients interact with directly. Though, as we discuss in the paper, there is potential for care models where some patients’ needs are addressed by appropriately developed and validated generative AI tools.
Patients who are getting genetic counseling are often grappling with difficult new diagnoses, loss, hard decisions, and life-changing genetic test results. The counseling in genetic counseling is a critical part of how genetic counselors help patients with these things. This has long been one of my big passions in our field. In these early stages of applying generative AI to healthcare, it can be tempting to think that only humans can provide effective psychosocial support, and that may indeed be the case. The reality, though, is that we don’t know yet. Research studies will be needed to assess this. What we do know is that not every patient has psychosocial counseling needs; some only need information and access to genetic testing or risk assessment. Such patients may be well served by AI solutions.
Q: What lessons can be learned from other healthcare domains using AI tools?
A lot is happening across healthcare with generative AI! Some of which is particularly relevant to genetic counseling.
A recent randomized controlled trial of a generative AI chatbot for mental health symptoms found that, compared to no intervention, interaction with the AI bot improved depression and anxiety symptoms. Notably, study participants rated the relationship with the chatbot to be as strong as what has been reported for relationships with therapists. Studies like this suggest that generative AI tools may, in fact, be able to provide effective psychological support, though more research is definitely needed.
Looking at medical care, recently Google Research and DeepMind posted a pre-print of a study looking at a heavily guard-railed conversational AI agent that took patient history, then summarized the case for the physician, and suggested diagnoses and treatments, without providing any medical advice to the patient. The physician then reviewed what the AI agent provided and used it to inform their diagnosis and care plan. The study found this approach improved both the efficiency of care and the quality of the physicians’ final medical decisions. This is similar to a model we proposed in the paper and provides early evidence for the feasibility and effectiveness of such AI-human collaborations in direct patient care.
Q: Digital tools are not new in genetic counseling. What can we learn from research on existing tools that might help as the field considers the application of generative AI-based tools?
Patient-facing digital tools have been used in genomic medicine and genetic counseling for over a decade now. This includes chatbots or interactive web-based tools that educate patients on genetic testing, take their history and assess the appropriateness of genetic testing, and help patients make decisions about genetic testing or treatment of genetic diseases. Most of these tools have no AI functionality.
We, and others, have studied such tools to assess how well they help patients. My colleague Whiwon Lee, a fellow genetic-counselor scientist, did a systematic review of these studies and found that 84% of studies reported that these tools positively impacted patient care. Benefits included improved knowledge, psychosocial well-being, health behaviors, family communication, and decision making. In our own work we’ve found that digital tools can increase access to genetic testing. As with these historical tools, careful validation of generative AI-based tools will be critical, as is ensuring they are accessible, usable, and effective for all patients.
Q: How is Genome Medical integrating AI into its services?
At Genome Medical, our mission has always been to expand access to high-quality genetic services—and we see AI as a powerful tool to help us do just that. We’re already integrating AI into our workflows to enhance care delivery, streamline operations, and support both patients and clinicians in meaningful ways.
One area we’re applying AI is in structuring genetic data to support more continuous and informed care, work we presented at ISPOR 2025. This approach holds promise not only for advancing precision medicine, but also for identifying patients eligible for clinical trials and expanding access to emerging therapies.
We’re also incorporating generative AI to improve our patient journey and to give our clinical team more context before each genetic counseling session. These enhancements will reduce friction in the care process and support our counselors in delivering highly-personalized guidance.
Q: How has Genome Medical included genetic counselors in the development of AI tools, and why is that important?
Involving our clinical team has been essential to how we’re leveraging AI at Genome Medical. We believe that for AI tools to be useful, ethical, and adopted in practice, they need to be shaped by the people who will actually use them—our genetic counselors, medical geneticists, physicians, and genetic counseling assistants.
One example of how we’ve engaged our clinical team is by hosting an AI hackathon. We brought together clinicians from across the company to surface real-world challenges and design AI-powered solutions. It was a collaborative, hands-on process that led to practical ideas and built enthusiasm across the team. Our Chief Clinical Officer, Kiley Johnson, remarked that the experience got the clinical team excited about AI—and that excitement translated into confidence. A follow-up survey showed that 88% of our clinical genetics staff felt confident that AI could be introduced both ethically and helpfully into their work.
Looking Ahead: A Future Where AI and Genetic Counselors Collaborate
As our conversation with Colleen Caleshu highlights, generative AI is no longer a distant concept in genetic counseling—it’s beginning to reshape workflows, enhance clinical documentation, and offer new ways to improve patient access and care quality.
At Genome Medical, we’re committed to leading this transformation responsibly. By including our clinical teams in the AI design process, validating tools before clinical use, and focusing on solutions that alleviate administrative burden, we are ensuring AI serves as a force multiplier for delivering compassionate, expert care.
As generative AI use in genetics continues to evolve, we look forward to sharing more learnings, research, and innovations—and to working alongside others in the field to shape AI-enhanced care.
