Can you imagine having a medical treatment tailored specifically to you? One that adapts to you, your body, your metabolism, or your specific condition? This is the promise of genomic medicine—also known as personalized medicine or precision medicine—which adapts prevention, diagnosis, and treatment to each individual’s genetic profile.
The evolution of genomics and personalized medicine
Medicine has been evolving: we have moved from a one-size-fits-all approach to treatments designed for groups of people with similar profiles. This has been made possible thanks to advances in science, but also in the field of digital health.
From a scientific standpoint, we have seen very significant advances in genomics and microbiome research. The reduction in the cost of DNA sequencing has made it more accessible to the consumer market through molecular tests or genetic tests that allow us to identify disease risks or improve lifestyle habits (or even enhance athletic performance).
It has also become more accessible in clinical settings, enabling more personalized treatments. Sequencing the genome of an oncology patient and their tumor now allows clinicians to apply more precise and effective therapies and adjust treatment if the tumor mutates, achieving better outcomes.
New steps toward personalized health care
Today, initiatives such as FinnGen in Finland stand out. This is one of the first large-scale personalized medicine projects, aiming to improve population health through genetic research in order to identify new disease therapies. The study spans the entire country and involves collaboration among nearly all Finnish biobanks. FinnGen seeks to better understand disease mechanisms and develop new treatments by combining genomic and health data.
Another rapidly growing field is the microbiome—the analysis of the bacteria present in the body. Although the science is still in its early stages, this area holds very promising potential, such as addressing diseases like Crohn’s disease or obesity. Increasingly, genomic and microbiome analyses are being combined to understand how certain foods affect metabolism and to improve overall health through recommendations based on these insights.
Digital health technologies to improve health
Precision medicine has also benefited from advances in digital health and from the evolving role of patients, who are becoming increasingly central. Thanks to wearables and other emerging technologies such as Anura—within the broader personalized health space—consumers can track their health and overall well-being on a daily basis. This enables them to monitor and improve healthy lifestyle habits (such as physical activity or sleep) and take better care of themselves.
These wearables allow for remote patient monitoring and provide a holistic view of health over weeks or months, rather than the biased six-minute snapshot of a medical appointment. This enables a better understanding of each patient’s health status, the identification of potential problems or triggers, and timely intervention when data fall outside normal ranges. This is closely linked to the concept of digital twins, which involves creating a virtual avatar using accumulated data to predict how an individual may respond to a treatment.
The digital therapeutics revolution
Digital therapeutics (DTx), a subcategory of digital health, also strongly support the concept of genomic medicine. DTx are apps or software that can replace or complement drugs or traditional treatments. They are available 24/7 and can be used anywhere. One particularly attractive feature is their ability to collect usage data (real-world data), enabling the personalization of each treatment. This is also highly valuable for pharmaceutical companies, as it provides feedback on specific drugs, helps identify adverse effects—especially during phase II clinical development—or supports the creation of new drug lines or digital therapies.
Meanwhile, artificial intelligence is a technology with a major impact on drug development: it helps explain why treatment effectiveness varies from person to person and enables the identification of the most appropriate therapy for each patient.
Genomic medicine comes to primary care
Personalized medicine is not only present at the clinical level, but is also coming to primary care. Devices are being developed to support medical staff in their diagnosis in primary care and thus prescribe the appropriate treatment. This may be data collected through wearables, apps, or diagnostic solutions that provide results while the patient is with the doctor.
We have seen this, for example, with rapid antigen tests for COVID-19, which are recommended for people with symptoms of coronavirus infection in the early days. But it could also be a device that can perform a rapid blood test on each patient to find out if they have a virus or bacteria, thus avoiding the need to prescribe antibiotics when they are not necessary.
Future challenges for personalized genomic medicine
Although we have made great strides in recent years, challenges remain ahead in achieving truly personalized medicine in which a drug or treatment is developed for a specific person:
- Data is key to personalized medicine. More and more data is being collected, but the challenge lies in ensuring that it is high quality, can be exploited, and then knowing what to do with it. Sharing it with medical staff without interpretation or recommendations is not enough, as they often do not have the time or expertise to interpret it. As a result, we are seeing new profiles in hospital settings with training that allows them to better manage this data and, as a consequence, new training programs to respond to these new needs.
- Related to this point is the concept of the data economy: an ecosystem in which data is organized and shared by a network of sellers with the idea of extracting value from the accumulated data. The data economy exists in the United States, for example, but not yet in Europe. However, some European associations have developed blockchain-based platforms where patients can share their data and receive “payment” when consulted by scientists, pharmaceutical companies, etc..
- Artificial intelligence (AI) is an important tool for making personalized medicine a reality, but it still needs further development to reach its full potential. What we call AI today is, in many cases, not really AI.
Personalized medicine is a fascinating field that is becoming increasingly important, with more involved patients and more developed and cutting-edge technologies, offering us much hope for our future.
