What is the state of personalized medicine in 2021? (Part 1)


We have all heard about personalized medicine, but what is it exactly? Let’s take a very simple example: B cells lymphoblastic leukemia, a common type of cancer in children. Novartis, a Swiss pharmaceutical company, recently found a new treatment to this rare disease, called KYMRIAH™️. It has been approved in 2017 by the FDA (Food and Drug Administration) and in June 2018 by the EMA (European Medicines Agency). It consists of modifying the genes of the immune cells in order to have them fight against the cancerous cells located in the bone marrow. This treatment is a major evolution in the race for personalized medicine, but it is a costly one: $475,000 for one treatment course. Indeed, these therapies are developed for a limited number of patients suffering from rare diseases, often due to genetic mutations. To put it simply, the rarer the disease is, the more expensive research gets.


Personalized medicine requires a collective effort


To keep it short, personalized medicine (PM) tailors a medical treatment to the individual characteristics of each patient, taking into account the person’s unique molecular and genetic profile in order to prescribe a more effective treatment. PM improves the ability to diagnose and treat disease while also reinforcing the process of detecting a disease at an early stage, when it is easier to treat effectively.

PM covers risk assessments (genetic testing to reveal a certain predisposition to disease), prevention, detection (at a molecular level), diagnosis, treatment (targeted ones with decreased side effects) and management.

 Now that you better understand what PM is, let’s discuss the role of the different stakeholders working together towards the shared goal of improving patient care.



Patients will be one of the major actors involved in PM. Indeed, as shown by diabetic patients, they are increasingly in control of their body parameters to manage the evolution of their condition. Thanks to connected devices, patients are better able to monitor their health and get in touch with physicians as soon as biological markers become unusual. Another aspect of PM is that patients will begin feeling pressured, as recruitment for clinical trials will become more and more challenging. Indeed, due to the little number of people suffering from a certain disease, phases 2 (evaluation of the efficiency) and 3 (on a high number of patients) of clinical trials might become particularly difficult to pursue. Patients will have to take the medication without it being tested on a high number of people and accept the risk inherent to research on personalized treatments and rare diseases.


Healthcare providers

Healthcare providers will have to better understand genetic medicine, which is not something they commonly study during their medical education. They will be using new technologies to help patients through disease prevention, detection, diagnosis, treatment and management. The trust relationship patients have with their physician will have to be reinforced for a meaningful and appropriate use of personalized therapies.


Life sciences and tech companies

Pharmaceutical companies are developing biological tools to analyze and interpret genetics correctly. This will help understand patients’ likelihood to respond to personalized medicines.

Big tech companies, known as GAFAM (Google, Apple, Facebook, Amazon and Microsoft), collect hundreds of millions of health data in order to develop new health and wellness products. By learning so much information on their users’ personal lives, GAFAM will offer them personalized medical services, as it is the case with Amazon Pharmacy launched in November 2020.


New technologies have a central role

Artificial Intelligence is gaining prominence over time. It is used to process enormous quantities of information while allowing a better and quicker diagnosis. One example of that is MammoScreen™️ by Therapixel, which provides AI-guided decision-making support for breast cancer screening, improving radiologist’s efficiency while spending less time reading cases.


Personalized medicine comes with a (very) high cost


PM market has been expanding over the past decade: according to a report by Grand View Research, Inc. it is expected to reach $3.18 trillion by 2025.


Case study : KYMRIAH™️

Let’s retake the example of KYMRIAH™️, a CAR-T cell therapy treating blood cancers, developed by Novartis. CAR-T cell therapy is an immunotherapy helping patient’s own immune system fight their cancer. Doctors are using the patient’s blood to separates T cells (white blood cells that help fight infection) from the blood itself. The lymphocytes T cells are then sent to a laboratory in order to make the CAR-T cell product, by changing the genetic make-up of T cells. T cells are now able to recognize specific proteins on tumor cells and are growing in the lab before the person with cancer receives the therapy.

In July 2020, the American Society of Clinical Oncology showed that the average cost of a CAR-T cell product is around $373,000, with the estimated cost of CAR-T cell therapy and related services at $419,238. However, these additional costs include pre-therapy consult, chemotherapy and other medical procedures such as X-rays, CT scans, etc. The treatment of potential side effects of immunotherapy might add further costs.


Personalized medicine relies on genome sequencing


Another type of personalized medicine is genome sequencing. It allows physicians determine if a gene or a region that regulates a gene contains mutations that are linked to a disease. Let’s consider breast and ovarian cancers. A mutation of BRCA1 and BRCA2 genes (tumor suppressor genes) may confers higher risks for breast and/or ovarian cancer. The test to find these mutations exists but costs approximately 1,500€ in France.

A recent study showed that women with harmful BRCA1 mutation have a 72% risk to develop breast cancer and 44% to develop ovarian cancer. When it comes to a harmful BRCA2 mutation, 69% of women will face a breast cancer in their life, and 17% will develop ovarian cancer.

A positive result to these genetic tests means more measures: frequent screenings or preventive treatments such as surgery (called prophylactic surgery and which involves removing breast tissue, fallopian tubes and ovaries before any signs of cancer have been detected).


The efficiency of personalized medicine has been proven over the years, with tremendous benefits for patients if all healthcare stakeholders are involved. However, the calculation between the benefits and the costs is the next issue personalized medicine will have to face. Indeed, the price of these medicines is still very high, and it will not necessarily come down in the next few years. 

 Article by Mathilde YUNG




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