Bridging genomics and healthcare: expert perspectives on integrating genomic data into electronic health records
A survey of 58 international experts reveals a strong consensus on key principles for integrating genomic data into electronic health records, including the preference for separate but interoperable storage, dynamic consent, and public funding, while highlighting significant challenges in governance clarity, reimbursement models, and the management of complex findings like polygenic risk scores.
Original paper licensed under CC BY 4.0 (https://creativecommons.org/licenses/by/4.0/). This is an AI-generated explanation of the paper below. It is not written or endorsed by the authors. For technical accuracy, refer to the original paper. Read full disclaimer
Imagine a world where a single blood test could reveal not just what is wrong with you today, but what might go wrong tomorrow. This is the promise of clinical genomics, a field that reads the unique chemical code inside our cells to predict disease risks, tailor medications, and guide treatment. For years, this information has lived in isolated labs or paper reports, often forgotten after a diagnosis is made. But as medicine moves toward a future where care is personalized, this genetic data needs a permanent home. It must live where doctors look every day: inside the electronic health records that track a patient's history, visits, and medications. The challenge is not just storing this vast amount of information, but making sure it stays accurate, secure, and useful for decades as our understanding of genetics evolves.
A team of researchers set out to understand how to make this happen. They did not run a new lab experiment or build a new computer system. Instead, they asked the people who know the most about the subject: experts in genetics, hospital administration, law, and health policy. They surveyed 58 specialists from 24 different countries, asking them to imagine the ideal system for storing and using genetic data within hospitals. Their goal was to find common ground on how to build a system that works for everyone, from the patient to the doctor, while navigating complex rules about privacy and money.
The experts reached a clear consensus on where the data should live. Most of them, about 74 percent, rejected the idea of stuffing all the genetic information directly into the main patient file, which is the electronic health record used for daily check-ups. They worried that these records were not built to handle the sheer size and complexity of genetic data. Instead, the preferred solution is a separate, secure digital vault that sits alongside the main record. This vault would be connected to the hospital system so doctors can access the information when they need it, but it would keep the heavy data out of the way of routine paperwork. This approach, known as a modular architecture, allows the system to grow and change without breaking the tools doctors use every day.
When it comes to who gets to see this sensitive information, the experts drew a sharp line. Doctors treating the patient were almost universally accepted as the primary users, with 90 percent of respondents supporting their access. Researchers were also seen as acceptable, provided they had permission. However, the experts were much more cautious about government agencies, private companies, or insurance providers accessing the data. Only a small fraction of the group felt these groups should have access, reflecting a strong desire to keep genetic information focused on health care and research rather than commercial or administrative use.
The survey also tackled the question of how to handle the fact that science changes. A genetic finding that seems harmless today might be understood as dangerous in five years. The experts agreed that the system must be able to update itself. They preferred that these updates happen automatically when new scientific discoveries are made or when a patient's health changes, rather than waiting for a fixed schedule. When it comes to telling the patient about these new findings, the group was very specific. They believe that genetic counselors, who are specially trained to explain complex genetic results, should be the ones to deliver the news, followed by specialist doctors. They expressed concern that general practitioners might not have the training to explain these results correctly, highlighting a gap in the current workforce that needs to be filled.
Money and rules were the other major hurdles identified. The experts felt that the current way of paying for genetic testing is broken because it usually only covers the cost of the initial test, not the long-term cost of storing the data, updating it, or explaining new findings to patients. They argued that public funding, through national health systems or government budgets, is essential to support the entire lifecycle of the data, not just the first test. On the legal side, the picture was murkier. Only about one-quarter of the respondents felt that their country had clear laws governing how genetic data should be integrated into health records. Many described the rules as fragmented or outdated, creating uncertainty for hospitals trying to build these systems.
Despite the challenges, the path forward seems to be taking shape. The experts envision a system where genetic data is stored securely in a specialized, connected system, accessible to doctors when needed, and updated automatically as science advances. They see a future where patients have control over how their data is used through flexible consent models that allow them to change their minds over time. While the legal and financial frameworks are not yet perfect, the survey suggests that the technical and ethical blueprint for integrating genomics into everyday healthcare is already being drawn by those who will build it. The work ahead is not about inventing new technology, but about aligning laws, funding, and training to match the potential of the science.
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