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The story of precision medicine

Empowering precision medicine champions with tools, materials, and a compelling storyline describing what precision medicine is, its value for patients that can benefit from it, its progress, and potential for the future.

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BETA

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.

Why?

TAKEAWAY

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.

EXTRA RESOURCE

Check out this video from the Leukemia & Lymphoma Society to learn about what precision medicine means for cancer patients.

Your personal characteristics, such as your genes, environment, and habits, are distinct from those of another person.

These characteristics can affect your general health.

Including the diseases you may develop, the symptoms you may experience, and the ways in which your body might respond to certain treatments.

If the building blocks of your disease were looked at in a laboratory, it may not be the same disease as the other person’s at all.

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.

Using specialized testing procedures, doctors can tailor treatments to each patient in hopes of a better outcome and fewer side effects.

GENERALIZED MEDICINE

All patients with the same diagnosis receive the same treatment.

PERSONALIZED/PRECISION MEDICINE

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 them

CLICK TO TWEET

expert zoom in

Explore the trend towards precision medicine in cancer care

01

Increased clinical research around biomarkers

02

Growing number of targeted therapies available

03

Increased rate of biomarker testing

04

Increased eligibility of patients that can receive targeted therapy

If you are interested in using the information above, we have made this slide deck that you can download, personalize and use as you wish!

Download here

01

Increased clinical research around biomarkers A 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).

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.

02

Growing number of targeted therapies available

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.

03

Increased rate of biomarker testing

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.

04

Increased eligibility of patients that can 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).

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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precision medicine in practice

Precision Medicine is becoming a more common solution in cancer testing and treatment.

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

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.

Video explaining why cancer biomarkers matter for patients

Do you need to explain the basics of biomarker testing for cancer treatment? Download this slide deck and adapt it as needed!

Download here

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.

Check out Richard Heimler's

story to learn more.

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.

Read Rick Ecalono's

story to learn more.

Targeted therapies

Targeted therapies are drugs that keep cancer from growing and spreading with less harm to healthy cells. These treatments are called “targeted” because they target the genes or proteins associated with your specific cancer.

The Human Genome Project was launched in 1990 as an international effort to sequence and map all genes in the human genome. The initiative revealed that we all have a slightly different genetic makeup — as do our tumors. This explains the different responses to drugs in different patients and why tailored treatments based on an individual’s (or their tumor's) genetic code refers to the instructions contained in a gene that tell a cell how to make a specific protein (NIH National Human Genome Research Institute) can be beneficial. To learn more about the Human Genome Project, visit The Human Pangenome.

Targeted treatments are specific to you and your disease as well as other people who have the same condition and mutations.

If you are interested in using the information above, you can download, or share it!

You want to know more about the patient experience in precision medicine?

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 pathway

DISCOVER ALL STORIES HERE

Are you a patient advocate or precision medicine champion looking to develop new educational tools for patients regarding precision medicine?

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 - silvia@thesynergist.org - if you need support with the adaptation.

ACCESS ALL ADAPTABLE RESOURCES

access and limitations

Ideally, healthcare everywhere would always include a personalized treatment plan designed specifically around the individual patient.

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 cards 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).

ADDITIONAL RESOURCES

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

precision medicine in practice

Precision Medicine is also becoming crucial for rare diseases.

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

precision medicine history

Precision Medicine is not a new idea anymore. It’s been growing and evolving for a long time and it’s now time to deliver the promise to patients!

Curious about the history behind precision medicine?

Do you want to download this timeline and adapt it to your needs? Download it here and get started!

Download here

400 B.C.

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.

19th Century

Gregor Mandel made an experiment with peas that led to the discovery of genetic inheritance and genetic difference of each individual.

Late 19th-century

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.

1869

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).

1953

James Watson and Francis Crick (UK) describe the structure of DNA (the “double helix”), laying the foundation of modern molecular biology.

Mid-20th century

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.

1960

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.

Late ‘60s

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.

1977

Frederick Sanger discovers the first DNA sequencing method.

1970

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.

1990

Human Genome Project launches; An ambitious project to map and understand all the genes of human beings.

2003

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.

2022

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.

PRECISION MEDICINE TALKS

Words from Precision Medicine Champions

Listen to members of the FT3 community as they talk about their work, their experiences, and their vision for the future of precision medicine.

Elissa Quinn - What is precision medicine to her

Listen to Elissa Quinn, formerly from Blueprint Medicines, as she talks about what precision medicine means to her

Begonya Nafria Escalera - Her vision for the future of precision medicine

Listen to Begonya Nafria Escalera from the Sant Joan de Déu Research Foundation, as she talks about her vision for the future of precision medicine

Merel Hennink about her work and how it related to precision medicine

Listen to Merel Hennink from Stichting Merels Wereld, as she talks about her work, her story, and how it relates to precision medicine

Begonya Nafria Escalera - Her vision for the future of precision medicine

Listen to Begonya Nafria Escalera from the Sant Joan de Déu Research Foundation, as she talks about her vision for the future of precision medicine

Merel Hennink - What is precision medicine to her

Listen to Merel Hennink from Stichting Merels Wereld, as she describes what precision medicine means to her

Elissa Quinn - What is precision medicine to her

Listen to Elissa Quinn, formerly from Blueprint Medicines, as she talks about what precision medicine means to her

Merel Hennink about her work and how it related to precision medicine

Listen to Merel Hennink from Stichting Merels Wereld, as she talks about her work, her story, and how it relates to precision medicine

#DidYouKnow? #PrecisionMedicine is about putting the #patients and their experience at the center by designing a treatment plan specific to them

CLICK TO TWEET

The story continues...

This resource is currently in a beta version.

It will be a living material that will evolve, based on its reception by the wider audience and new information and data made available in this ecosystem. Please help us improve it by sharing your feedback with us in the box on the right of your screen.

about this resource

WHO

This resource was co-created by a global, multi-stakeholder working group of the From Testing to Targeted Treatments (FT3) Program.

and others...

WHY

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.

GOAL

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.

Do you want to help us shape this tool further?

Connect with us, silvia@thesynergist.org

Or join the online story!