Imagine you go to your doctor for your annual checkup. She collects various bits of data to update your file—your weight, your heart rate and blood pressure, updates in your self-reported health, and she runs a blood test. All these data provide important information about you and your physiology. What your doctor just measured are aspects of your phenome–but there is so much more to it than those few clinical assessments.
Your phenome is a snapshot of your biology comprising all the traits you can see, like eye and hair color, and numerous traits you can’t see, like immune, brain and heart system functions. Your phenome is dynamic and constantly changing because it is influenced by your genes, your behavior, and your environment–and we all have different combinations of those factors. Your phenome reflects the genetic variations that make each of us unique, as well as the behaviors you choose and the environment where you live. The more we learn about the phenome, the more we see how dynamic and variable it is.
Monogenic diseases
While most diseases stem from a combination of many genes, behaviors, and environmental factors, some rare conditions are caused by a single change in our genetic code. We call these monogenic diseases.
Sickle cell disease is a monogenic disorder that affects red blood cells, causing them to become misshapen due to a single nucleotide change.
Since our phenome continuously changes throughout our life, we cannot just measure it once. We need to repeatedly measure all these different characteristics to make sure that we are looking at our current biology, the most recent version of ourselves. You may be wondering: how big is my phenome? How many measurements are needed to understand my phenome and how frequently should I be measuring it? We are making great strides toward answering this question but we do not yet fully know. Our health has many different dimensions, and we must profile enough different aspects of the phenome to capture these different dimensions.
Each of these different dimensions of our health is intricately connected. Exposing ourselves to cold or heat can cause certain genes to be activated, making proteins that help our bodies react to changes in temperature. Exercising our muscles can trigger processes that result in new muscle growth and the breakdown of other cells. This is why we must think of our bodies as systems: changes in one aspect of our physiology almost never result in single, isolated changes. To truly understand health and disease, we must therefore measure as many dimensions of our health as possible—our phenome. And since our phenome is constantly changing, it is important to make these measurements over time.
Through this you may find yourself wondering: what does this mean for me? Understanding the different levels and dimensions of our health could not only help keep you healthier but could allow you to have a better understanding of how to interact with your health and the healthcare industry. Engaging in your own phenomic understanding could be as simple as beginning to track your heart rate, exercises, sleep, and other lifestyle measures. You could also add clinical measurements such as blood glucose and cortisol levels. Further engagement in your wellness journey could begin with discussions with healthcare and wellness professionals to build personalized action plans and maximize your outcomes.