Personalized Medicine - from a one-size fits all to a tailored approach
You may have increasingly heard of the term personalized medicine being used and wondered what it actually meant. Could I really get a treatment that is made just for me?
Well, not quite, but thanks to the huge advances in our understanding of how both our bodies and diseases work, we can now develop a much more precise picture of which medicines would be most effective for a particular individual. Personalized medicine is therefore about providing a far more tailored treatment, one that targets particular attributes that are unique to you.
To start with we can define patients by common traits – their age, gender, ethnicity, medical history, lifestyle choices. By narrowing these groups down, we can create far more accurate patient profiles. But to really understand every individual, we need to look closer.
Each of us has our own distinctive genome, the complete set of genetic instructions for making us. Through DNA sequencing, we can create a detailed map of an individual’s genome and then look for alterations or patterns of genes that spell out potential risks or might be the driver for a specific disease. In particular for some cancers, there are known genomic alterations that have been shown to drive a tumor’s growth. Knowing if a tumor harbors this specific alteration helps doctors in identifying the right treatment for that patient. But even beyond cancer, this knowledge helps researchers develop more effective medicines and doctors diagnose and treat disease with far greater precision.
Understanding what makes us, us
Clinicians have for many decades tried to deliver care that is better catered to the individual, such as understanding that different blood groups require different transfusions. It was the rise of medical genetics in the latter half of the 20th century following the discovery of the structure of DNA that opened up the possibility of diagnosing patients through their genetic code.
This culminated in the Human Genome Project1 – an international program whose goal was the complete mapping and understanding of all the genes of human beings. It began in the early 1990s and in 2003, the full sequence of around 20,500 human genes was completed and published.
This historic work has had an enormous impact on how we study and treat disease. For example, we have since been able to identify the genetic basis or genomic variation of thousands of diseases. At the same time, it has also helped dramatically improve the speed and accuracy and – importantly – accessibility of DNA and RNA sequencing.
Fast, large-scale, low-cost DNA sequencing is driving the rapidly growing field of genomics, the study of genes. And this is at the center of delivering the next generation of personalized medicine.
Where are we now? The rise in tailored cancer treatments
Many diseases, including some type of cancers, are caused by alterations in the genomic make up of a cell – making the cell cancerous. Genomics can identify these alterations and search for them using an ever-growing number of genomic tests.
Oncology is currently at the forefront of using genomics to help develop more effective cancer treatments. On the one hand, genetic tests (which test for the inherited genes an individual has) are available to be taken to indicate susceptibility to certain diseases, allowing for pre-emptive treatment to begin. On the other hand, if someone has already cancer, doctors can take a biopsy of the tumor, take it through comprehensive genomic testing, where DNA or RNA sequencing works with big data analytics to identify abnormalities, called biomarkers, in the tumor, which then allows for the use of more targeted treatments.
Currently, the Cancer Genome Atlas in the United States2 has mapped key genomic changes in more than 30 types of cancer. Some of them are driving the cancer (oncogenic driver, some of them are so called “passenger alterations” which mark a certain disease but are not necessarily the only drivers of it). So, while there is still long way to go, the more biomarkers we can identify, the greater the potential to deliver more detailed diagnoses and develop better treatments.
Genomics is also helping researchers discover the factors behind why some people get sick and some don’t. Human beings are 99.9 percent identical in their genetic makeup, differences in that remaining 0.1 percent hold vital clues3 about both the causes of diseases and why people can respond differently to different medications.
What does the future hold? More than a one-size fits all approach
As DNA or RNA sequencing becomes more widespread and cost-effective, and genomics increasingly important, many more patients could be tested in the future and genomic alterations could be identified in a more systematic way. This means a future where we move away from trial and error treatment to a far more tailored approach.
A key element of this is pharmacogenomics – understanding how a patient will respond to a particular drug based on their genome. For example, our genes influence the production of certain enzymes in the liver that metabolize medicines. These gene variations, known as polymorphisms, can mean that a drug might not work properly or could cause side effects.
Creating a far more detailed, holistic picture of the patient is at the center of advances in personalized medicine. It is driving the expansion of health informatics4, where patient information is collated, managed and analyzed to identify patterns and build far more accurate profiles of each individual and improve their care.
This combination of digital technology and healthcare is also becoming increasingly important outside of our hospitals and clinics. The rise of smartphones and wearable sensors is enabling real-time health monitoring at home5 and through artificial intelligence can help predict potential health problems, just from analyzing individual markers and assessing it in a holistic way.
Empowering people to take care of their own health
When it comes to personalized medicine, knowledge really is a power as insights on their individual needs empowers consumers to take more control over their self-care. For example, there are multiple factors – lifestyle choices, age, occupation – that can lead to micronutrient imbalances that can cause immune deficiencies. Personalized vitamins, which take blood sample information to identify deficiencies, can provide the individual with tailored micronutrients designed specifically for them that they can easily incorporate into their daily routines. In other instances, individuals can simply complete a questionnaire about their personal health goals and lifestyle to determine which vitamins and supplements are right for them. This takes out all the guesswork, simplifies the shopping process and, most importantly, delivers personalized nutrition solutions.
The rise in personalized medicine will therefore give consumers and patients a more participatory role in their health. It will give them greater visibility on how to better manage their health themselves as well as empower them to demand diagnostic testing that will deliver treatment that is tailored to them as an individual.
The power to more accurately predict an individual’s susceptibility to disease, to understand their likely response to a drug and to more precisely tailor a treatment or preventive measures. The future of health both for the doctor and the patient is all about getting personal.
A laboratory method that is used to determine the entire genetic makeup of a specific organism or cell type. This method can be used to find changes in areas of the genome. These changes may help scientists understand how specific diseases, such as cancer, form. Results of genomic sequencing may also be used to diagnose and treat disease.6
Date analytics in health care and bio science, using various platforms and data sharing methods to analyze and compare certain parameters on a cellular, patient, or patient population level to develop more precise medicines, treatments and diagnostic tests.7
Large biological molecules (mostly proteins) that catalyze chemical reactions in the body. As each enzyme is specific to a particular chemical reaction, they are ideal targets for specific treatments.8, 9, 10
RNA vs. DNA
Proteins control the processes in the body – both healthy and pathological processes. Instructions on how to build these proteins can be found in their DNA (desoxyribonucleic acid): all proteins are encoded by certain gene segments, some longer, some shorter. To make a protein, body cells first copy the corresponding segment of DNA. This copy – the messenger RNA (ribonucleic acids) or mRNA – is subsequently translated into a protein. Each mRNA molecule thus corresponds to a specific protein. Analyzing the messenger RNA in the cell can thus yield information on the proteins formed – and thus on the processes in the body targeted by the cell.11
Diﬀerence between genetic testing and genomic cancer testing
Genomic cancer testing helps identify what may be causing your tumor to grow and spread by looking at your entire genome, whereas genetic testing looks at inherited traits or disease risks that may be passed down from generation to generation based on a speciﬁc set of genes.
1The National Human Genome Research Institute: https://www.genome.gov/human-genome-project/What
2The National Cancer Insitute: https://www.cancer.gov/about-nci/organization/ccg/research/structural-genomics/tcga
3The National Genome Research Institute: https://www.genome.gov/about-genomics/fact-sheets/Genetics-vs-Genomics
4Journal of Health Services Research & Policy 6(4):251—254: https://www.researchgate.net/publication/225029359_What_is_health_informatics
5Future Medicine Ltd: https://www.futuremedicine.com/doi/full/10.2217/pme-2018-0044