November 01, 2020
Genomic testing is that which looks beyond your genes to identify your potential for developing common diseases and abnormalities. At the Medical Transformation Center in Louisville, KY, we use this diagnostic tool to create a customized healthcare package based on your specific needs. To learn more about the benefits of this testing, please read further.
Genetic testing works to detect a single gene mutation within the body, such as the BRCA1 and BRCA2 mutations associated with breast and ovarian cancers. This helps identify those individuals who may be at risk for developing a specific disease based on genetic mutations inherited from parents. Such testing also helps to confirm a diagnosis or identify if you are a carrier of a mutation linked to such diseases as muscular dystrophy, cystic fibrosis, and sickle cell disease.
Genomic testing, on the other hand, is designed to look at all of your genes. It provides a broader picture of your body that identifies your risk of disease, how illness may progress within your body, and the likelihood of recurrence. All of this information can help you gain access to faster screening and enable you to take measures that can reduce your risk.
Genetic testing identifies inheritable mutations, which is very useful for disease prevention. Genomics tries to understand the outcome of genetic interactions with routine body functions. This knowledge can help us understand why certain illnesses affect certain people and not the population as a whole. Heart disease, for instance, afflicts some but not all.
All of this information provides a detailed look at you and your life. It is not a generic examination; it is the complete picture of your body so we can act in a way that is most appropriate for you. It even takes into consideration your environment so nothing is left to the imagination. Many times, genomics allow for early intervention and life-saving measures.
Many times, patients with symptoms that are difficult to diagnose have to endure long waiting periods and innumerable tests before doctors can make a diagnosis. But genomic testing can provide a definitive answer without unnecessary clinical investigations. This means improved screening if a risk is present and more rapid – and individualized – treatment if you are diagnosed with an illness.
Because genomics looks at whole body functions, as opposed to a single gene, it provides us with predictive markers that other testing does not. Even imaging processes like an MRI only captures one part of the body. New forms of treatment target the whole person so we can understand how all parts of the body will react.
In addition to providing us with predictive markers, genomics also produces response markers that show how well various treatments are working. Information like this helps us avoid exposing patients to ineffective or overly toxic therapies. It can also save valuable time during treatment to give the best care possible.
Medicine as a whole continues to evolve, and that means a one-size-fits-all solution is no longer the model to follow. Instead, personalized medicine that takes into account the complete picture of genetics, environment, and lifestyle is ideal so patients have customized treatment plans.
Genomic testing also allows us to adapt quickly if treatment isn’t yielding the appropriate results. For instance, rather than a patient being subject to a traditional chemotherapy schedule of once weekly for three months, he or she might instead have treatment every three weeks for six months. This can increase patient comfort and significantly improve treatment outcomes.
Genomics allows us to see if you are predisposed to a certain disease and how your personal choices influence the likelihood of developing that disease. You can see how this immediately allows you to make different, healthier choices to reduce your risk. This can be especially beneficial for deterring from conditions like diabetes and heart disease with simple adjustments to diet and exercise.
While we cannot control our genes, we can affect their expression; that is, whether they’re likely to be switched “on” or “off.” We can control this by exerting power over our environment. Even if some diseases are not preventable, taking steps to become healthier will only benefit us in the long run.
Genomic testing is usually done as a panel and may involve multiple techniques, such as drawing blood or taking a saliva sample. This sort of testing can be highly beneficial because it can reveal illness or disease that a healthcare provider may not have considered otherwise. Many diseases have overlapping symptoms, and panel testing saves time and provides earlier diagnoses to improve patient outcomes.
Panel tests can be analyzed in one to four weeks. They show the presence of genetic variants that can, in turn, be analyzed for the presence of disease.
We already touched upon the fact that some people are pre-disposed to certain illnesses while others are not. The truth is that an individual can avoid junk food throughout their life, run several miles a day, and still die at age 45 from a heart attack or stroke. On the outside, they appear perfectly healthy, but internally, genetic factors caused a serious problem that even regular check-ups couldn’t identify.
On the other hand, some people smoke, do not watch what they eat, never exercise, and live to be 90. It is important that we understand these differences to even the playing field and enable all people to reach 90. Further study may even reveal the key to living as long as possible, thus enabling healthcare providers to target each person individually and create personalized roadmaps to longevity.
Cancer remains an elusive disease, although patient outcomes are considerably better today than at any other time. Genomics is helping with this process, particularly in predicting a tumor’s behavior within the body. We can now more reliably say how quickly a tumor might grow and whether or not it will metastasize.
This information is vital, given that tumor cells are prone to rapid mutation. Even if a single genetic variant is responsible for the rise of a tumor, the disease itself can take many different courses. Some are aggressive, others are not. In addition, if a tumor suddenly mutates, genomics can determine how receptive that mutation is to targeted therapy.
Learning about the disease markers for both you and your partner can allow time to address concerns before you get pregnant. With genomics, you can understand your family’s health history and the likelihood of having a baby with genetic conditions.
Genomic testing can also help if you have experienced:
People are more alike than we realize. In fact, all humans are 99.9 percent identical in terms of genetic composition. It is only the remaining 0.1 percent that indicates disease. Studying this small but critical component can lead to improved health behaviors and disease prevention measures.
We are at a point in medicine where we understand a given exercise regimen, diet, or prescription can be beneficial for one person but harmful for another. What we don’t understand are the reasons for this, and genomics can help bridge that gap.
Genomics may help us understand why some people have such behavioral traits as impulse tendencies, antisocial behaviors, and violence. This knowledge can be helpful with less volatile behaviors as well. For instance, knowing that you are a novelty-seeker constantly looking for a reward can help you understand why you might be drawn to an exciting sport or particularly sweet snack. In turn, you can take steps to modify some of these behaviors to promote a healthier lifestyle.
If we determine you are at risk for developing a certain disease, we will recommend regular screenings to help safeguard your health. This will help to not only find the disease if it develops but also to catch it as early as possible. In addition, treatment may be less invasive and/or incorporate different modalities, as we will better understand how the disease is expected to react within your body.
In looking at a combination of genetic factors, rather than just individual genes, genomics can help us identify hereditary disease within your family. Your family can in turn use this information to establish healthy habits that can be passed to later generations. This is just one of the ways in which diseases may eventually be slowed and/or eliminated.
Genomics can be especially helpful in identifying unknown environmental risk factors for disease. It can also confirm suspected risk factors, which again can lead to improved treatment options. Identifying environmental risks can also help us eliminate them to increase healthy living standards among individuals, whole families, and entire populations.
Many times, having a symptom and not knowing the cause can further diminish health by adding undue stress and worry. Identifying a disease can instantly ease the burden of not knowing and relieve worry. In addition, it can spur a feeling of purpose as you begin to take action with treatment.
Genomics can play an important role in diagnosing digestive issues that are otherwise hard to pinpoint. Many times, patients present a range of symptoms – abdominal pain, cramping, diarrhea, and nausea, just to name a few – that point to a range of different disorders. Because of the extreme discomfort digestive issues pose, quickly identifying and treating them is important to patient well-being.
Symptoms of lactose intolerance, for example, can develop suddenly and at any time. But because the signs, like bloating and gas, occur with many disorders, diagnosing this problem may require significant time. Genomics reduces that time and helps a patient improve more quickly.
Genomic testing can be exceptionally valuable in helping to identify the risks of developing common diseases and abnormalities in a straightforward and scientifically advanced way. When combined with epigenetics and lifestyle factors, it can become a very powerful tool in creating optimal health. It can also help prevent disease – for both you and your family.
Our staff is committed to providing you with personalized care. We strive to tailor medical decisions and treatments to your specific needs in an environment that is both professional and compassionate. Backed by our years of experience, we can walk you through the benefits of custom medicine. Call Medical Transformation Center in Louisville, KY, today to schedule your consultation.