Commensurate with technological improvements and the subsequent rise in genetic research and genetics-based tests and treatments, the term ‘personalized medicine’ is being used more frequently. But what does it mean? This explainer outlines what personalized medicine is, its advantages and some concerns that have been raised in relation to it.

Also known as precision medicine, personalized medicine is a rapidly expanding field of practice that uses an individual’s genetic profile to guide decisions about the prevention, diagnosis, and treatment of disease.

Although the concept of personalized medicine began in the 1990s, following advances in DNA sequencing technology, it pretty much remained just a concept and was rarely applied. Since then, continued advances have generated enormous amounts of new information. The discovery of genes, proteins, and pathways has enabled studies into the genetics underlying both rare and common diseases and aided the identification of new drug targets.

What’s good about personalized medicine

For a long time, the practice of medicine has largely been reactive, waiting for the onset of disease before treating or curing it. But we’re all unique in terms of genetic makeup, environment, and lifestyle factors. Our growing understanding of genetics and genomics – the study of all of a person’s genes – and how they drive health, disease and treatment in individual people offers an opportunity to step away from a ‘one size fits all’ approach based on broad population averages and adopt an individualized approach.

In addition to advances in the field of genomics, developments in the fields of science and technology play a crucial role in personalized medicine. For example, the development of high-resolution analytics, biotech research and chemistry, and the ability to decipher molecular structures, signaling pathways, and protein interactions that underpin the mechanisms of gene expression.

Personalized medicine is about more than prescribing the best drugs, although that’s a large part of it. Proponents say it would shift medicine’s emphasis from reaction to prevention, better predict disease susceptibility and improve diagnosis, produce more effective drugs and reduce adverse side effects, and eliminate the inefficiency and cost of adopting a trial-and-error approach to healthcare.

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We’ve already seen personalized medicine positively impact patient care in patients with diseases like breast cancer, melanoma, and cardiovascular disease. And the use of patient-derived cell and organoid ‘avatars’ as disease models to identify beneficial treatments provides truly personalized medicine to individual patients. Then there’s CRISPR, technology that allows genetic material to be added, removed, or altered at particular locations in the genome as a direct way of treating genetic and other conditions.

Concerns about personalized medicine

Despite its numerous benefits, the adoption of a personalized medicine approach raises several issues. For it to reach peak efficiency, a lot of genomic data must be collected from a large and diverse section of the population, and it’s critical that participants’ privacy and confidentiality are protected. Privacy issues extend to the collection, storage and sharing of that information.

Extensive changes to the healthcare system, including ethical changes, are likely needed to overcome the ethical obstacles of personalized medicine use, including knowledge gap and informed consent, privacy and confidentiality, and the availability of healthcare services. Social benefit versus science development and individual benefit needs to be considered and balanced. And there are concerns that data collected might be used unethically, such as insurance companies not offering some policies to people with a certain genetic predispositions.

Legally, a physician is negligent when they fail to follow generally accepted practice. In personalized medicine, when the interpretation of genetic information is at issue, there may be no generally accepted practice or standard. It begs the question, at what point does clinical genetic knowledge become a standard of practice?

Cost is another relevant factor. While the expense associated with large-scale DNA sequencing is decreasing, it’s still expensive. And drugs developed based on molecular or genetic variations are likely to be costly. Further, massive amounts of data require massive infrastructure changes, including changes to the mechanisms of data collection, storage and sharing, all of which require investment.

Will personalized medicine happen?

Personalized medicine is already happening in the form of things like CRISPR, mRNA vaccines and the large-scale genome sequencing of newborns. It’s the kind of future that was envisioned when the Human Genome Project was first completed 20 years ago, and it certainly has its benefits.

However, the widespread adoption of personalized medicine may prove more difficult than first imagined. In addition to the concerns already mentioned, there needs to be a change in public attitudes and the way medical professionals, patients and health regulators view the approach. It may require a new approach to the way drugs are tested and a willingness to embrace risk.

Nonetheless, the potential benefits are so great and the march of technology and knowledge so inexorable that it is a near certainty that personalized medicine will continue to develop and become standard in healthcare systems at some point in the future – it’s just a matter of how fast the advances are made and how soon the aforementioned hurdles can be overcome as to exactly when this might be.