What is precision medicine?
Precision medicine (also known as personalised medicine) is an approach doctors can take to individualise healthcare for patients.
This ‘tailored’ approach is made possible by combining the information from a person’s unique genes (or DNA) and other health information (like lifestyle factors and family history) to prevent, diagnose or treat disease. Instead of a one-size-fits all approach, precision medicine can determine what works for a specific individual.
Your genomic sequence is the blueprint for how your body is made and how it operates. Genomic testing can give doctors insights into how your body functions specifically. These insights can help doctors make more informed choices about your care.
For example genomic testing can provide information about how you will respond to different medications and treatments. This helps doctors create more targeted and effective treatment plans. A drug treatment that works for someone else may not necessarily work for you.
Genomics can also help doctors understand your risk of developing a disease later in life and take early actions to help prevent or reduce its likelihood. Increasingly, precision medicine is shifting the focus from treatment of illnesses once they’ve already occurred, to preventing illnesses from occurring in the first place.
Precision medicine aims to make the right choices at the right time that will make the most difference to a person’s health using the information from your DNA and other contributing factors.
Why genes matter in precision medicine
Everyone is made up of genes that act as the instruction manual for our bodies. Genes build the proteins necessary for our bodies to develop and function. Our complete set of genes – also known as a DNA sequence – is completely unique to us.
The differences in our DNA is what makes us who we are – it’s why some people have blue eyes and others have brown eyes. Changes in our DNA are common, but some changes can influence health and cause certain health conditions to occur.
The more we know about our genome – our complete DNA sequence – the more information we have to make informed decisions about our health. Knowing what works and what doesn’t work in your care can help save money and time by making treatment more efficient.
As the Australian population grows older, decreasing the onset of preventable conditions becomes key in reducing the impact on the broader healthcare system. Australia has made it a national priority to invest in precision medicine, as explained in this article by the Office of the Chief Scientist.
What does this look like in practice?
Precision medicine is used by many doctors across different specialties. Some examples of how it is used in practice include:
Diagnosing inherited conditions early
Newborn babies are already screened for certain medical conditions soon after birth. If further testing is needed, genomic tests are used to pinpoint a diagnosis for genetic conditions, like cystic fibrosis. Rapid genomic testing is also available for critically ill babies that need immediate answers to treat conditions as soon as possible.
Finding the right cancer treatments
People with cancer sometimes have their tumour’s DNA tested. It can provide an indication of how well this cancer will respond to different treatment options, like chemotherapy and radiation. Even if two people have the same type of cancer, they might respond to treatments differently. Genomics can guide doctors in choosing a treatment for each patient.
Pinpointing genomic causes in common conditions
Genomic testing is being used in common conditions like heart disease, kidney disease and immune disorders, to identify key gene changes that can inform how these conditions progress over time.
Finding the most effective drugs
Doctors can use an individual’s unique genomic information to choose the most effective drug and determine the best dose. Known as pharmacogenomics, this approach avoids negative drug-gene interactions and means the medications used are as safe and effective as they can be. This also avoids a trial-and-error approach, saving money and potential side-effects.
You can find more real-world examples in two Center of Disease Control articles on how precision medicine is used today to predict and prevent disease and treat and manage disease.