Biomarkers in Precision Medicine
There’s something about knowing how the future may unfold that gives you a sense of relief. We all know the feeling of not knowing what tomorrow will bring… i.e. COVID. But with biomarkers, medicine doesn’t have to be so unpredictable, leaving the feeling of uncertainty behind.
The medical field is mainly based around the trial and error method. Try a different method until we’re successful. And for centuries this has proven effective but we’ve found systems that will accelerate the process of diagnosis, treatment, and may even become prevention. Saving the lives of millions and preventing the disparity that so many people face daily.
Personalized Medicine
This process is precision medicine, a personalized approach to healthcare by sequencing the human genome and making predictions and/or diagnosis based on your genes. Then developing or identifying drugs that will best suit the patients needs. Creating a unique and individual process for the most efficient method of care. To properly identify what is causing an issue, doctors can rely on biomarkers to get an idea of what’s wrong.
According to the FDA, biomarkers are a “defined characteristic that is measured as an indicator of normal biological processes, pathogenic processes, or responses to an exposure or intervention.”
Biomarkers have the capability to indicate issues before they become a physical problem, this could completely revolutionize how long it takes before symptoms become a noticeable concern. Changing medicine from reactive to preventative.
Biomarkers
Biomarkers fall under two categories of measurement: quantitative or qualitative. Quantitative biomarkers are determining if the markers are present or not. While qualitative biomarkers are consistently identifying the amount of when markers are present. Generating a way of regulating normalcy and the probability of having to get treated for a disease. For example, people with allergy issues tend to have increased T-helper type 2 (TH2) cells, however everyone has TH2 cells. So an idea of how many are present will help indicate the severity of issues with allergies or asthma.
Identification
How are biomarkers identified? Cue the introduction of the -omics, epigenomics, genomics, proteomics, transcriptomics, metabolomics, and microbiomics. The omics give more precise measurements about what’s happening in the body and how it all works.
The prefix epi- means on top of , which means that the epigenome is on top of the genome, or the head. Imagine the epigenome is sort of like a flight control tower. The planes are all in the same airport, doing the same things to prepare for flight until they decide to take off. Once they take off they begin heading in different directions at different times because they have different instructions. Epigenome’s are very similar, they are in charge of gene expression, which is control over what genes instruct cells to carry out. This instruction process is called cell differentiation.
Cell differentiation is how cells go from average to special. The average cell is instructed by the gene, who is instructed by the epigenome to create a specific cell like a skin or muscle cells. Sometimes the epigenome marks cells incorrectly due to a change in chemical composition of the body. Usually from prolonged changes in one’s lifestyle like their environment or diet. This can result in diseases lifetime altering diseases like cancer.
Biomarkers can play an important role by identifying when the epigenome begins incorrectly instructing genes before it becomes an unsolvable issue. Scientists have found a biomarker in colorectal cancer through hypermethylation. Essentially the body stops using DNA Methylation, which allows for cancer cells to grow rampantly through the body. Causing expansive damage, however the FDA has yet to approve this a association as a proven biomarker.
Association and observation is how many biomarkers are identified. Generally an increase or decrease of chemicals or processes occurs. Scientists take note and begin conducting studies on the impact and if the correlation has substantial information to support their hypothesis.
Biomarkers Increase the Efficiency in Precision Medicine
Biomarkers bring a specific type of precise measurement to the medical field. The closer a biomarker can reach 100% in sensitivity and specificity, the more medicine can become more precise and effective.
Sensitivity
Sensitivity is used during the testing stage and essentially determines out of 10, how many people truly test positive for the disease being tested for . The goal is to receive no false positives from this group so we can correctly associate certain biomarkers with diseases.
Specificity
Specificity is the opposite to sensitivity. When testing we want to reach a 10 out of 10 rate* with people testing negative. This is because if all 10 people without the biomarker test negative we can safely assume that this biomarker can be paired with a certain disease. What we don’t want to see when testing is false negatives, this means the data can’t be conclusive and the biomarker isn’t reliable.
*Obviously when conducting studies there will be more than 10 people participating in studies to conclude effectiveness.
How
Precision Medicine is based on creating a unique medical experience to specifically cater to each individual’s needs. Well when identifying alterations in the genome or body systems biomarkers create a shortcut. FDA approved biomarkers give analysts an idea of what to look for. The more biomarkers that can be identified and approved the more efficient precision medicine becomes and the more effective scientists can be in developing preventative programs or drugs.
Biomarkers in the Now
For a biomarker to be taken seriously it has to go through a series of clinical trials and acceptances. Requiring effort in the pharmacogenomic field to properly process whether treatment methods are effective. Pharmacogenomics studies the efficiency of drugs in people’s systems. Helping understand how drugs react and metabolize throughout the body. Biomarkers help in this field because the faster the disease is identified the faster a conclusive assessment can occur. An expedited understanding of biomarkers and their effectiveness can contribute to personalized medicine by 10x. Currently biomarkers are helping find early stages of diseases like cancer, dementia, and other types of viruses.
Cancer
Accounting for the second leading cause of death in United States cancer takes a toll on all systems. Cancer is caused by driver genes that change what cells your body reproduces. This change instructs cells to be overactive, producing cancerous cells over and over. Causing either a mass growth or metastatic cancer–cancer that spreads. The reason that biomarkers could play an important roll in stopping cancer is finding the gene alteration early. Most times individuals find cancerous tissues when they become noticeably uncomfortable. However, with biomarkers tracking alterations in genes, cancer could be identified earlier, resulting in higher chances of cancers being treated. For instance, cancers found in Stage I have almost a 100% survival rate for patients in the next 5 years. Once cancer reaches Stage IV the survival rate drops down to 22%. Biomarkers could potentially reduce the rates of Stage II-IV cancers, resulting in a decrease in deaths from cancer.
Dementia
There are over 400 different types of dementia. It’s a blanket term for symptoms including memory loss and forgetfulness that impedes on the productivity of one’s life. Not all types of dementia are gene related but biomarkers could help identify higher levels of proteins that may indicate a category of dementia. Alzheimer’s diagnosis associates risen levels of the amyloid precursor protein. A protein that regularly operates a cell surface receptor regulating brain activities. Identifying the increases in this protein can help people begin to make changes in their diets & lifestyles to slow the progress of Alzheimer’s.
Concerns
Although biomarkers are mostly dependable and efficient there are some reliability issues in their cost, identification, and the timing of recognizing them. The amount of trials and money spent on properly identifying the validity of biomarkers is costly. And biomarkers inconsistency makes them difficult to rely on without a very large scale to back them up with.
When attempting to identify the probability for a disease an increase in biological levels is helpful to accurately describe the problem. However with the extensive list of diseases one can identify with, it can be hard to differentiate which elevated or lower levels can lead to which disease. For example in predicting Type 2 diabetes there is in increase in Hemoglobin A1C (A1C). This increases your blood sugar levels and usually indicates possible susceptibility to diabetes complications. But high levels of AIC can also indicate kidney failure, untreated anemias, and high triglycerides.
The current amount of identifiable biomarkers is small. With over 10,000 known diseases afflicting humans there are only roughly 25 FDA approved biomarkers. Biomarkers identified before or in an early stage of a disease are the most effective. This gives doctors time to fully assess and correct the situation. Rather than biomarkers being identified later on, results in less of an ability to provide effective treatment.
Biomarkers in the Future
The future of biomarkers is a digital one. With a need for precision & preventative medicine the increase in effectiveness and reliability digital biomarkers with artificial intelligence and the use of smartphones. This potentiality could give biomarkers the ability to give real time data to consumers. Companies like The Rogers Laboratory and Roche Digital Biomarkers are transforming the biomarker world.
The Rogers Laboratory
The Roger Lab is based in Northwestern University’s School of Engineering. They’ve created a non-invasive wearable patch that detects body chemistries through sweat.
Roche Digital Biomarkers
“Today’s insight for tomorrow’s treatments” — Rochhe
Roche’s method of a digital biomarker is connects with an individual’s phone. They identified that patients tend to forget to include symptoms at annual or semi-annual check ups. So they created a digital biomarker that pairs with a cell phone and logs data 365 days a year.
The ideas for biomarkers are undeniably helpful towards the health care world. Specifically advancing the precision and success of precision medicine exponentially, the potential is endless.
For me specifically I’ll be looking into bio-integrated biomarkers in the female reproductive system. If you’d like to follow along follow me here where I’ll be posting more on what I find. Hope to see you soon!
