With advances in technology and the concomitant rise in genetic research and gene-based testing and treatments, the term "personalized medicine" is increasingly used. But what does this mean? This note outlines what personalized medicine is, its benefits, and some of the concerns people have about personalized medicine.
Personalized medicine, also known as precision medicine, is a rapidly expanding field of practice that uses an individual's genetic profile to guide disease prevention, diagnosis and treatment decisions.
Although the concept of personalized medicine began in the 1990s, with the advancement of DNA sequencing technology, this concept has almost remained at a conceptual level and has rarely been applied. Since then, continued progress has produced a wealth of new information. The discovery of genes, proteins and pathways enables research into the genetic basis of rare and common diseases and helps identify new drug targets.
Advantages of personalized medicine
For a long time, the practice of medicine was largely reactive, waiting for disease to occur before treating or curing it. But we are all unique in terms of our genetic makeup, environmental and lifestyle factors. Our growing understanding of genetics and genomics - the study of all a person's genes - and how they drive an individual's health, disease and treatment presents an opportunity to move away from a "one-size-fits-all" approach based on broad population averages and towards an individualized approach.
In addition to advances in the field of genomics, developments in the field of science and technology also play a vital role in personalized medicine. For example, developments in high-resolution analytical techniques, biotechnological research and chemistry, as well as the ability to decipher molecular structures, signaling pathways and protein interactions that underpin gene expression mechanisms.
Personalized medicine is about more than just prescribing the best medicine, although that’s an important part of it too. Proponents argue it will shift the focus of medicine from reaction to prevention, better predict susceptibility to disease and improve diagnosis, produce more effective drugs with fewer unwanted side effects, and eliminate the inefficiencies and high costs of a trial-and-error approach to health care.
We are already seeing personalized medicine positively impact the care of patients with breast cancer, melanoma, and cardiovascular disease. Using patient-derived cell and organoid "avatars" as disease models to identify beneficial treatments provides truly personalized medicine for patients. CRISPR technology allows the addition, removal or alteration of genetic material at specific locations in the genome, making it a direct approach to treating genetic and other diseases.
Concerns about personalized medicine
Despite the benefits of a personalized medicine approach, its adoption also raises some questions. To be most effective, large amounts of genomic data must be collected from large and diverse populations, and the privacy and confidentiality of participants must be protected. Privacy issues also include the collection, storage and sharing of information.
Overcoming ethical barriers to the use of personalized medicine, including gaps in knowledge and informed consent, privacy and confidentiality, and availability of care, may require broad reforms to the health care system, including ethics reforms. Social benefits need to be considered and balanced against scientific development and personal interests. There are also concerns that the data collected could be used unethically, such as insurance companies not offering certain policies to people with certain genetic predispositions.
Legally speaking, a doctor is negligent if he fails to follow accepted practice. In personalized medicine, there may be no accepted practices or standards when problems arise in the interpretation of genetic information. This begs the question: At what point will clinical genetic knowledge become the standard of practice?
Cost is another relevant factor. While the costs associated with large-scale DNA sequencing are falling, they are still expensive. And drugs developed based on molecular or genetic variations are likely to be costly. In addition, massive amounts of data require massive infrastructure changes, including changes in data collection, storage, and sharing mechanisms, all of which require investment.
Will personalized medicine ever happen?
Personalized medicine is already emerging in the form of CRISPR, mRNA vaccines and large-scale genome sequencing of newborns. This was the future envisioned when the Human Genome Project was first completed 20 years ago, and it certainly has its benefits.
However, widespread adoption of personalized medicine may be more difficult than initially thought. In addition to the issues already mentioned, there is a need to change public attitudes and the perception of this approach by medical professionals, patients and health regulators. This may require a new approach to drug testing and a willingness to accept risks.
Nonetheless, the potential benefits of personalized medicine are so great, and the advances in technology and knowledge are so inexorable, that it will almost certainly continue to evolve and become standard in healthcare systems at some point in the future—when exactly will depend on how quickly progress progresses and how quickly the above barriers can be overcome.