The concept of precision medicine emerged several years ago. However, there is still massive confusion about its definition, link to personalized medicine, and differences between conventional medicine and its potential uses. 

Precision medicine is about matching the right drugs or treatments to the right people based on a genetic or molecular understanding of their disease. It is an approach to patient care based on the idea that one person's disease isnʼt necessarily precisely the same as someone else who seemingly has the same disease. 

Your genes and environment can influence your health conditions, the potential disease symptoms, and even how your body will react to the prescribed drugs: efficacy, efficiency, and safety. 

Precision medicine gives more comprehension of how gene variations, proteins, environment, and other factors can influence health status.

 

Difference Between Precision Medicine and Personalized Medicine

Genetics Home Reference (G.H.R.), the U.S. National Library of Medicine website for consumer information related to genetic conditions, has just issued a new primer on precision medicine to help disseminate this evolving concept. 

According to the N.I.H., precision medicine is "an emerging approach for disease treatment and prevention that considers individual variability in genes, environment, and lifestyle for each person." 

The new G.H.R. primer stresses that, although the term 'Precision Medicine' is relatively new, the concept has existed in different areas of medical practice for a long time. For example, in blood transfusions and organ transplants, donors are not assigned at random but carefully matched to the recipients based on their genetic and antigen type to avert complications.

Much overlap exists between the terms Precision Medicine and Personalized Medicine. According to the National Research Council (N.R.C.), Personalized medicine is an older term used to mean Precision Medicine. However, the Council shows concerns about the possible misinterpretation of the word Personalized to mean that therapies and preventive procedures are invariably developed uniquely for each individual, which is not necessarily the case. 

For this reason, the Council preferred the term Precision Medicine to Personalized medicine, issuing a report in 2011 with a detailed overview of the topic and their rationale for its preference in terminology. The main focal point is identifying the most effective strategies by considering genomics, the environment, and lifestyle factors. 

One of the fields of Precision Medicine is Pharmacogenomics: an emerging field of study combining Pharmacology and Genomics to assess how the genetic profile can influence a person's reaction to particular drugs with the final goals of developing effective, safe medications and doses tailored to variations in a person's genes. 

 

Differences between Precision Medicine and Conventional Medicine

There are two different approaches to medical practice.

With conventional medicine, most therapies are designed to treat large groups of people with the same disease, like diabetes or cancer. Still, most physicians decide about the drug prescription according to what is known to be efficient, efficacious, and safe for anyone with a similar disease. They usually consider a few factors, like gender, age, or weight.

However, it is very common to find that the treatment responses differ from one person to another. One drug can work very well for a patient, but the same drug with the same dose and administration can be inefficient and unsafe for another.

Finding the adequate drug for this second patient will involve a lot of trial and error, wasting time and money and mainly exposing him to a high risk of severe side effects.

Precision medicine takes things a step further. Based on the genetic profile, environment, and lifestyle studies, physicians identify the most convenient therapy for the patient with the highest efficiency, efficacy, and safety levels: Targeted Therapy. As it is a tailored treatment for one patient, Precision Medicine is sometimes named Personalized Medicine.

 

How Does Precision Medicine Work?

In conventional medicine, scientists develop drugs to treat the disease's symptoms. They test the drugs in clinical trials involving large groups of people with that disease. The F.D.A. approves a new medication when clinical trials demonstrate that the therapy has more benefits than side effects.

Unfortunately, this doesn't mean this medicine is useful for everyone. The knowledge about the pathophysiology of the diseases, the genetic profile of the patients, and their environment has improved the vision of medicine with the development of a more accurate and decisive treatment: Precision Medicine.

Studies have shown that gene modifications are related to the occurrence of many diseases. With the massive contribution of the Human Genome Project, scientists now have the whole human genome. They can see how specific gene changes can cause disease, explain the interindividual differences of the same condition in a population and clarify the reasons for the diversity of the responses to treatment. Knowing how genes can contribute to the pathophysiology of a disease and the treatment response variations can facilitate the development of adequate therapies for patients.

Several cancers' growth is linked to gene mutations. A treatment targeting the cells with these genes can be an excellent tool to inhibit or decrease cancer extension. 

 

Precision Medicine Potentials

In precision medicine, we have more potential for:

Disease Risk Assessment

the genome study can assess the risk of disease occurrence. 

Disease Prevention

Thanks to epigenetics, the study of how your lifestyle and environment can cause modifications in gene expression, it is possible when we know that someone is carrying a certain gene with a high risk of disease development to change lifestyle or start a treatment to prevent the disease occurrence.

Women with BRCA1 or BRCA2 gene mutations are exposed to a higher risk for breast cancer. To prevent cancer development, they can opt for mastectomy. 

Disease Screening and Early Diagnosis

They facilitate earlier treatment and better disease outcomes. 

Targeted Treatments

Your genetic makeup can help guide your physician to the most adequate medicine for you with the maximum efficacy, efficiency, and safety and even the most convenient posology and route of administration. 

Treatment Response Monitoring

Physicians can use precision medicine techniques to monitor and assess the treatment response. 

 

Precision medicine Add-on Conventional Medicine

Complement and Improve Conventional Medicine

Precision medicine offers a powerful tool to select the best candidates who will benefit from therapy and exclude the ones who will not.

More Targeted

With the possibility to predict the treatment response, precision medicine focuses on cells or gene targets with more efficacy, efficiency, and safety. 

Averting the prescription of ineffective or unsafe treatment

The treatment is tailored to your genetic profile, environment, and lifestyle. 

Fewer side effects

Precision medicine is better and more accurate as the drugs target only the genes and proteins causing the disease. They spare the rest of human cells and tissues. It helps to have the best possible treatment from the first time, so it reduces the poly-medications and the number of therapies changes and consequently the side effects and improves the disease prognosis. 

Better medical decisions making

Precision medicine improves medical decisions by optimizing treatment choices and developing effective disease approaches with lifestyle changes and behavior modifications. 

 

Precision Medicine Challenges

Healthcare providers and scientists need to understand genetics and biochemistry well. It is a relatively new and growing field of scientific study. Several technologies and strategies to make precision medicine a daily practice in most healthcare settings are still being developed.

The National Institutes of Health and the U.S. National Library of Medicine suggests three main challenges:

• consent
• collection
• cost

Protecting patient privacy and keeping health information confidential is always a critical concern. Scientists need to implement rigorous measures of informed consent.

People who decide to participate by donating their genetic materials to an extensive database will need to understand the risks and benefits of participating in scientific research. 

 

Availability of Precision Medicine

Precision medicine is starting to become more prominent in the healthcare landscape. Some therapies are already in use today:

The donors – recipients compatibility before any blood transfusion

Trastuzumab (Herceptin) is a monoclonal antibody that targets the extracellular domain of HER2, a member of the epidermal growth factor receptor (EGFR) family treating HER2- positive breast cancer.

Two therapies targeting target epidermal growth factor receptor (EGFR), a receptor tyrosine kinase receptor, play a crucial role in colon cancer growth

• Cetuximab (Erbitux): a chimeric (mouse/human) monoclonal antibody, EGFR receptor inhibitor
• Panitumumab (Vectibix): fully human monoclonal antibody specific to the EGFR

A new genetic test, Cell-Free D.N.A., has been developed to detect Heart Allograft Acute Rejection 

 

Key Messages

• Precision Medicine is taking more and more place in the healthcare system
• There is still tremendous work to be done to make precision medicine accessible to all
• Healthcare professionals need the necessary tools, skills, and knowledge in precision medicine to work in a changing healthcare environment
• Patients must be aware of precision medicine's benefits and potential risks.

This article was contributed by our expert Raouf Hajji

Frequently Asked Questions Answered by Raouf Hajji

Q1. Will precision medicine improve population health?

Precision medicine is game-changing in healthcare. Its recent advances are improving population health. 

The emerging knowledge on genetic, environmental, and social determinants of health provided by precision medicine is crucial in addressing health inequities. It can provide efficient, effective, safe prevention and treatment approaches, reducing healthcare costs. It helps in population stratification into risk groups for specific diseases that can assign resources to the population with the highest risk. 

For example, a large population study published in 2016 suggested that the use of age and polygenic risk score (even though individual genetic variants have small effect sizes) may be more effective in stratifying women into risk categories for breast cancer screening than the use of age alone. 

The genetically targeted approach to health has demonstrated a population health benefit. Artificial intelligence, data science, genomics, and other emerging technologies are propelling precision medicine forward and are leading to a new era of precision public health. 

Precision public health enhances disease prevention, health promotion, and health inequities reduction in populations by:

• Applying emerging technologies for measuring disease, pathogens, exposures, behaviors, and susceptibility in populations
• Developing policies and targeted implementation programs to improve health
• Using genomics in the investigation and control of infectious diseases. Pathogen whole-genome sequencing is rapidly changing both clinical and public health microbiology. In addition, genomics promises to become central to other economic sectors such as the environment, agriculture, animal health, biotechnology, and alternative energy. 

Genomics and other omics knowledge and technologies, tools used in precision medicine, are transforming the way healthcare can be delivered through a greater understanding of disease detection and therapeutics. By this strategy, the right healthcare is given to the proper population at the best possible time and place.

Q2. How might personalized Medicine impact our healthcare? 

Precision medicine is changing the healthcare landscape by ensuring tailored prevention and treatment strategies with the highest efficiency, effectiveness, safety, and reduction of costs by targeting the most appropriate molecules, genes, cells, and populations. 

Its advances enhanced a massive transformation of the healthcare system by developing knowledge of genomics, the rise of multi-omics (protecomics, metabolomics, transcriptomics, epigenomics etc.) understanding, and the emergence of data science use. 

Despite this colossal progression, we need more work to make precision medicine universally accessible.

Q3. What technology is used in precision medicine?

The new technological advances have boosted the precision medicine revolution.

The adoption of artificial intelligence, data science, and emerging techniques such as molecular diagnostics (which includes genetic testing), molecular imaging, next-generation sequencing, and molecular dynamics to diagnose diseases and tailor treatments to the individual.

Q4. How does AI help with precision medicine? 

The adoption of Artificial Intelligence (AI) in precision medicine promises to change the healthcare landscape worldwide in the next few years. Precision medicine techniques offer the capability to study the multi omics of a population and understand its possible disease outcomes and treatment response. 

AI leverages sophisticated computation and inference to generate insights, enables the system to reason and learn, and empowers clinician decision-making through augmented intelligence. Many cell characteristics, including gene up-regulation, proteins binding to nucleic acids, and splicing, can be measured at high throughput and used as training objectives for predictive models. 

Researchers can create a new era of effective genomic medicine with the improved availability of a broad range of datasets and modern computer techniques such as machine learning. 

This review article has elucidated the contributions of ML algorithms in precision and genome medicine. 

AI, with other emerging technologies like data science, will help solve the most difficult challenges facing precision medicine, especially those in which nongenomic and genomic determinants, combined with information from patient symptoms, clinical history, and lifestyles, will facilitate personalized diagnosis and prognostication.