What is precision medicine
Imagine that you and another person are diagnosed with the same disease.
And yet you experience the illness in different ways, from how your diseases progress to which treatments are most effective.
Precision medicine provides insight into how your individual biomarkersA biomarker is a sign of disease or abnormal function that can be measured in your blood, tissue, or bodily fluid. In cancer, biomarkers are often used to help choose the best treatment for you. These biomarkers can be proteins, genes, or gene mutations. Biomarkers are often referred to by a 3 or 4 letter abbreviation. Examples of biomarkers are HER2 in breast cancer or EGFR in lung cancer (Cancer Support Community, Precision Medicine Plain Language Lexicon). can be matched with the right treatment.
Check out this video from the Leukemia & Lymphoma Society to learn about what precision medicine means for cancer patients.
Including the diseases you may develop, the symptoms you may experience, and the ways in which your body might respond to certain treatments.
Instead of a one-size-fits-all approach to health care, precision medicine a form of medicine that uses information about a person’s own genes or proteins to prevent, diagnose, or treat disease. In cancer, precision medicine uses specific information about a person’s tumor to help make a diagnosis, plan treatment, find out how well treatment is working, or make a prognosis (National Cancer Institute, Dictionary of Cancer Terms). takes into account these differences between individuals to find the best possible therapies.
All patients with the same diagnosis receive the same treatment.
Treatment strategy based on patient's unique genetic profile.
#DidYouKnow? #PrecisionMedicine is about putting the #patients and their experience at the center by designing a treatment plan specific to themCLICK TO TWEET
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Source: IQVIA Institute, Jun 2020
Notes: FDA approved targeted therapies that require or recommend biomarker testing on their prescribing labels prior to use. The list includes oncology therapies that gained approval for indications outside of the initial regulatory approval that subsequently recommended or required a biomarker test prior to use.
Report: Supporting Precision Oncology, July 2020
Precision medicine relies on the identification of biomarkers, which are genes, proteins, or other biological molecules in your body that can help diagnose your disease.
The discovery of biomarkers can potentially lead to research and development of new targeted therapies. The clinical research in this medical field is growing alongside the number of biomarker-based clinical trialsA type of research study that tests how well new medical approaches work in people (National Cancer Institute, Dictionary of Cancer Terms).. In 2020, 42 percent of clinical trials in the U.S. were biomarker-based as compared to only 5 percent in 2005.
Targeted therapies now cover a wide range of cancers. Show amount and variety.
This visual shows the new therapies that have been discovered and approved in the US since 2015 and that are targeting 24 different cancer types that (taken from IQVIA Supporting Precision Oncology, 2020).
Targeted therapies for cancer treatment are becoming a reality for patients, reflecting the increase in precision medicine clinical trials.
Between 2015 and 2019, two-thirds of the cancer therapies approved by the U.S. Food and Drug Administration were targeted treatments A type of treatment that uses drugs or other substances to identify and attack specific types of cancer cells with less harm to normal cells. Some targeted therapies block the action of certain enzymes, proteins, or other molecules involved in the growth and spread of cancer cells. Other types of targeted therapies help the immune system kill cancer cells or deliver toxic substances directly to cancer cells and kill them. Targeted therapy may have fewer side effects than other types of cancer treatment. Most targeted therapies are either small molecule drugs or monoclonal antibodies (National Cancer Institute, Dictionary of Cancer Terms).. During the same span of time, the European Medical Agency approved 62 new targeted therapies.
Source: IQVIA BrandImpact data, Mar-Apr 2020
Notes: Represents the percentage of metastatic patients by cancer type who have been tested for a given biomarker. Physician reported data based on a monthly panel pf 400+ oncologists.
Report: Optimizing Oncology Care Through Biomarker Adoption: Barriers ans Solutitons. IQVIA Institute for Human Data Science, August 2020
Testing Rate of Metastatic Cancer Patients
This figure shows the increasing percentage of patients that have been tested for biomaker(s)to identify the best treatment option (visual adapted from IQVIA Optimizing Oncology Care Through Biomarker Adoption: Barriers and Solutions,, 2020).
Precision medicine is becoming the standard of care for patients who can benefit from it - especially for metastatic cancerCancer that spreads from where it started to a distant part of the body is called metastatic cancer (National Cancer Institute) patients.
This is made possible by the increased rate of biomarker testing that can help identify the most beneficial treatment options, including precision medicine related ones.
In the last two decades, the number of targeted therapies available to patients has risen. This translates into a growing number of patients that can benefit from these new treatments:
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Below you can check out a representation of how precision medicine can support cancer care.
When there’s a suspicion of a cancer diagnosis, there might be the recommendation to undergo special testing
Biomarker testing can help patients and their healthcare team get information on your specific cancer to help make informed decisions for optimal treatment.
Biomarker testing can be done to look for mutations in a cancer (called somatic mutations). Somatic mutationsTwo kinds of mutations can be found in cancer cells — mutations you inherit and mutations you acquire during your lifetime (called somatic mutations). Inherited mutations are found in all your cells. Somatic/quaired mutations may only be found in the cancer’s cells. Somatic/acquired mutations happen as you get older and are the result of the wear and tear of life. These mutations were not inherited and cannot be passed on to children. Mutations in the cancer can affect how the cancer grows and spreads. These mutations can also define the cancer's subtype. Mutations in the cancer can be a type of biomarker. A biopsy sample or liquid biopsy is needed to test for mutations in the cancer (Cancer Support Community, Precision Medicine Plain Language Lexicon). cause most cancers and can’t be passed on to family members.
While biomarker testing does not always contribute to a diagnosisThe process of identifying a disease, condition, or injury from its signs and symptoms. A health history, physical exam, and tests, such as blood tests, imaging tests, and biopsies, may be used to help make a diagnosis. (National Cancer Institute, Dictionary of Cancer Terms). , it can provide crucial information about the tumor type.
Genetic testing the process of analyzing cells or tissue to look for changes in genes, chromosomes, or proteins that may be a sign of a disease or condition, such as cancer. These changes may also be a sign that a person has an increased risk of developing a specific disease or condition. Genetic testing may be done on tumor tissue to help diagnose cancer, plan treatment, or find out how well treatment is working (National Cancer Institute, Dictionary of Cancer Terms).
Also genetic testing can support patients and the healthcare team in getting the right information to make informed decisions.
Different from biomarker testing, genetic testing looks for mutations in your genes that can cause/increase the chances for a disease.
Identification of a somatic mutation
A somatic mutation is a variation in your cancer’s DNA. Because these mutations are cancer specific, you cannot pass them on to family members.
Identification of an inherited mutation(also called germline mutations) Two kinds of mutations can be found in cancer cells — mutations you inherit and mutations you acquire during your lifetime (called somatic mutations). Inherited mutations are found in all your cells. They are passed on from parents to offspring (Cancer Support Community, Precision Medicine Plain Language Lexicon). or cancer risk
An inherited mutation is a variation in your DNA. It is inherited from your parents and can be passed on to your children.
We have some patient stories available here for you to check! It explains you how patients went through different clinical and emotional phases throughout their pathwayDISCOVER ALL STORIES HERE
The FT3 community has co-created these educational resources for anyone to adapt to a specific country and disease. Get in contact with the FT3 team - firstname.lastname@example.org - if you need support with the adaptation.ACCESS ALL ADAPTABLE RESOURCES
However, there are some limitations to access that patients, healthcare professionals, and regulators should be aware of when considering precision medicine as a solution:
Precision medicine is a growing field but is not yet widely available. Patients may not have access to targeted therapies, or there might not yet be a targeted treatment available for specific mutations.
FT3 partners are working on mapping precision medicine access information at global and country level.Check out the first ones here
Even if you receive targeted therapy A type of treatment that uses drugs or other substances to identify and attack specific types of cancer cells with less harm to normal cells. Some targeted therapies block the action of certain enzymes, proteins, or other molecules involved in the growth and spread of cancer cells. Other types of targeted therapies help the immune system kill cancer cells or deliver toxic substances directly to cancer cells and kill them. Targeted therapy may have fewer side effects than other types of cancer treatment. Most targeted therapies are either small molecule drugs or monoclonal antibodies (National Cancer Institute, Dictionary of Cancer Terms). , you might build resistance to the treatment. In this case, you may need further testing to find new therapies.
Find a patient story showcasing this scenario here.Check here
Biomarker tests (also referred to as Comprehensive biomarker testing, Gene-based cancer testing, Genetic testing of the cancer, Cancer marker testing, Next generation sequencing, Genomic profiling, Mutation biomarker testing, Genomic testing, Molecular profiling, Tumor marker testing, Mutation testing, Molecular testing): Biomarker testing helps your doctor match the right drugs to the specific subtype of cancer you have. In biomarker testing, a sample of your cancer is collected from your blood, bodily fluids, or tissue taken during surgery or biopsy. Your sample is sent to a lab. The test looks for biomarkers in your cancer sample. The test results can be used to help guide your treatment options. Biomarkers tell your doctor about the subtype of the cancer in your body (Cancer Support Community, Precision Medicine Plain Language Lexicon). are not available at all medical centers. The required testing procedures might delay your treatment. But the results could be key in determining the most appropriate therapy.
Although targeted therapy is not yet widely available, results of testing may open the door to participation in clinical trials. A type of research study that tests how well new medical approaches work in people (National Cancer Institute, Dictionary of Cancer Terms).
It’s time for precision medicine to deliver the promise to patients. However, there are existing barriers in the healthcare systems that need to be addressed in order to accomplish that. Check this Access-Barriers Cause-Effect Canvas which was co-created to empower stakeholders to identify the testing and treatment access barriers along the patient journey and advocate for change
Discover here some patient stories published by Congenica to learn more about the impact genomics The study of the complete set of DNA (including all of its genes) in a person or other organism. Almost every cell in a person’s body contains a complete copy of the genome. The genome contains all the information needed for a person to develop and grow. Studying the genome may help researchers understand how genes interact with each other and with the environment and how certain diseases, such as cancer, diabetes, and heart disease, form. This may lead to new ways to diagnose, treat, and prevent disease (National Cancer Institute, Dictionary of Cancer Terms). is already having for people with rare genetic disorders.DISCOVER MORE STORIES
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Hippocrates hypothesizes that it is more important to understand who has a disease rather than which disease a person has.
In broader terms, this connects to the idea that patients can experience and respond differently to a disease or treatment.
1960Mid - 18th Century
Discovery that every individual has different finger prints and every human has a unique one.
Gregor Mandel made an experiment with peas that led to the discovery of genetic inheritance and genetic difference of each individual.
William Osler, the father of modern medicine, is reported to say “The good physician treats the disease; the great physician treats the patient who has the disease ” which is connected to the concept of patient-focused approaches and individualization of tailored therapies.
Friedrich Miescher discovers a novel substance he termed “nuclein”.
In 1881 Albrecht Kossel identified nuclein as a nucleic acid and provided its present chemical name, deoxyribonucleic acid (DNA).
James Watson and Francis Crick (UK) describe the structure of DNA (the “double helix”), laying the foundation of modern molecular biology.
Karl Pearson and Francis Galton research the relationship of the genetic make-up of the human DNA and diseases.
This laid the foundation for the development of drugs based on the genetic information of an individual.
The connection between a genetic abnormality and cancer is made when Nowell and Hungerford identify a unique genetic abnormality in chronic myeloid leukemia (CML) cells.
Gradual shift from the "one-size-fits-all" approach to the precision medicine approach, allowing for better identification of interventions that address a patient's unique medical characteristics.
Frederick Sanger discovers the first DNA sequencing method.
Scientists discover a mutation considered a predictor of more aggressive breast cancer and an important target for treatment, i.e.
P53 mutation discovered in 1979 and HER2 mutation in the early 1980s.
Human Genome Project launches; An ambitious project to map and understand all the genes of human beings.
Human Genome Project completes the sequencing of 92 percent of the DNA, discovering that we all have slightly different genetic makeup and so do the tumors.
This explains the different responses to drugs in different patients and why tailored treatment based on an individual/tumor's genetic refers to the instructions contained in a gene that tell a cell how to make a specific protein (NIH National Human Genome Research Institute) code can be beneficial.
The Human Genome sequencing is completed and the remaining 8% of the DNA is mapped.
This opens new research opportunities and potential new treatment options for patients, especially in the field of rare diseases.
#DidYouKnow? #PrecisionMedicine is about putting the #patients and their experience at the center by designing a treatment plan specific to themCLICK TO TWEET
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This resource was co-created by a global, multi-stakeholder working group of the From Testing to Targeted Treatments (FT3) Program.
The story of precision medicine has not been told as such, in the context of wider medical progress, with a history and a future. Precision medicine is mainly explained in a very technical way, focused on specific health technologies.
There is limited storytelling about precision medicine as an overall topic in lay language, including the patient experience and patient stories.
Support readiness and cultural change by equiping Precision Medicine Champions with information and resources that will establish among stakeholders a common understanding of the value of Precision Medicine. This is done through a dynamic and engaging narrative describing what precision medicine is, its value for patients that can benefit from it, and its progress and potential for the future.
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