Understanding Risk in Clinical Genetics

Genetic testing today touches nearly every part of healthcare. We use it to diagnose rare diseases, guide cancer treatment, assess pregnancy-related risks, and even select the right medications through pharmacogenomics. As its influence grows, so does our responsibility to ensure that the entire process—from referral to result communication—is conducted safely and ethically.

A recent study published in the European Journal of Human Genetics takes an important step in this direction. Instead of focusing on the accuracy of the genetic test itself, the authors looked at the entire journey a patient goes through in clinical genetics, asking a simple but powerful question: Where can things go wrong, and how do we prevent that?

This might seem straightforward, but clinical genetics is unusual compared to most medical specialties. Physical harm from procedures is rare. Instead, the risks lie in places we do not always think to monitor: consent conversations, test selection, communication gaps, delays, or misinterpretation of results. These issues can shape a person’s health decisions for years and affect not just an individual, but entire families and even future generations.

To understand these risks more deeply, the researchers started by reviewing more than a hundred real cases from a genetics clinic—cases already known to involve either an error or a near miss. Instead of analyzing the test results, they looked at each step surrounding them. What they discovered was that the patient’s journey through clinical genetics involves a complex chain of actions, decisions, and handoffs. Any one of these can become a weak link.

From this, they created a detailed 22-step map that traces how a person moves through a genetics service. It begins with the initial referral and stretches all the way to the final communication of results. Seeing the process laid out so clearly revealed something important: problems can appear anywhere, even long before a blood sample reaches the lab.

For example, a non-genetics clinician may unknowingly request the wrong test, leading to wasted time and confusion. Consent may be obtained by someone unfamiliar with genetic implications, leaving families unaware of what results could mean. Samples may be labeled incorrectly or delayed during transport. Results may be communicated without the proper context. Even something as simple as a long waiting list can create harm if a pregnancy advances while a family waits for a crucial result.

These issues are rarely dramatic, but they can carry real consequences. In genetics, “harm” is not just physical injury. It might mean emotional distress, a missed diagnosis, unnecessary interventions, loss of reproductive options, or family-wide misunderstandings. The authors recognized that traditional hospital risk frameworks do not capture these subtler forms of harm. So they adapted the existing systems to include categories relevant to genetics, creating a more realistic way to evaluate severity.

But identifying risk areas on paper is only half the job. The real breakthrough came when the team developed a simple form that clinicians could use during their routine work to report any errors or near misses they observed. This allowed the researchers to study risk prospectively—in real time—as it naturally occurred in clinics.

Six genetics centers across Europe tested this tool, and the findings were eye-opening. Depending on the center, between less than 1% and more than 20% of appointments had some form of risk event. In many cases, multiple steps failed during the same appointment. The specific issues differed across sites, showing that risk is shaped by local systems, staffing, and infrastructure rather than by genetics alone.

Despite this variation, one thing remained clear: risk in clinical genetics is not rare, and many issues repeat themselves because they are embedded in the system instead of tied to individual mistakes.

What makes this study especially valuable is that it doesn’t stop at identifying problems—it demonstrates solutions. After the initial audit, two centers implemented specific changes. One introduced clearer triage, trained non-genetic clinicians on appropriate test selection, and created a role similar to a “genomic practitioner” to support consent, paperwork, and coordination. When they repeated the audit, risk events dropped dramatically. One center saw more than a 50% reduction.

This proves that genetics services do not need massive restructuring to become safer. Small, targeted improvements can significantly reduce mistakes and improve the patient experience.

For patients and families, this kind of work is reassuring. It shows that the genetics community is actively thinking about safety—not just scientific accuracy. It also highlights that many risks stem from communication, delays, or unclear processes, rather than problems with the technology itself.

Process map of a patient's Clinical Genetics journey. Image Source: (Lambert et al, 2025).

For people working in genomics, this study offers a practical model. Every clinic, whether in Europe, India, or elsewhere, can adapt a similar approach. Mapping out the patient journey, identifying vulnerable points, collecting real-time feedback, and redefining harm in a way that fits genetics can create a safer and more patient-centered service.

This is especially important as genomic testing becomes more widely available. Genetic services in many countries—including India—are expanding rapidly, often faster than training and systems can keep up. Mainstream clinicians such as pediatricians, gynecologists, and oncologists now order tests that previously required specialized genetic consultation. Without proper support, this can lead to errors even with the best intentions.

The study serves as a reminder that safety must grow alongside technology. Sequencing machines may be more accurate than ever, but the human systems around them still need strengthening.

In the broader context of genomic medicine, this research marks a turning point. It shifts the conversation from “How accurate is the test?” to “How safe is the entire process?” Testing accuracy is only one part of the story. A perfectly sequenced genome means little if the right test wasn’t ordered, if results are misunderstood, or if families make life-changing decisions without proper context.

The framework introduced in this study gives us a structured way to examine these issues systematically. It encourages a culture of awareness rather than blame, recognizing that most errors are system-related and can be prevented through thoughtful design.

As someone passionate about making genetics easy to understand and accessible to the public, I find this approach refreshing. It aligns beautifully with the mission to deliver not just information, but responsible guidance that genuinely supports people in making informed choices.

Why This Is Especially Relevant Today

Genomics is no longer a niche medical field.

• Newborn screening

• Direct-to-consumer tests

• Cancer genomics

• Pharmacogenomics

—all are becoming mainstream.

Genomics will only continue to expand—and so will the number of people relying on genetic insights for their health decisions. Lambert et al.’s study ensures the safety of that journey is just as important as the science that powers it. This study shows that with the right tools and awareness, we can build genetic services that are not only innovative, but also compassionate, reliable, and deeply respectful of the trust patients place in them.

Reference:

Lambert, D.M., Stewart, H., Bandiola, M. et al. What is risk in clinical genetics? Designing and piloting tools to evaluate risk in clinical genetics using failure modes and effects analysis. Eur J Hum Genet (2025). https://doi.org/10.1038/s41431-025-01961-3

-Written by Sohni Tagore