Many people begin the year by mentally reviewing the past year and reflecting on what they would like to achieve in the new year. Some people make New Year’s resolutions in the hope of changing for the better and these goals are frequently health-related: exercise more, eat healthy meals, or reduce alcohol intake. Unfortunately, 2020 was not the year that many of us were hoping for. Experiencing a once in 100-year pandemic has made most reflect on their health and wellbeing in a different way.
For 2021, what would happen if this was the year where people truly focused on their health and wellbeing? Shifting from reactive healthcare to a proactive one. Proactive healthcare can simply be defined as taking action for one’s health and wellbeing prior to symptoms of a potential illness manifests.
Proactive Genetic Tests
Most genetic tests are ordered on two types of people:
- Those who are sick seeking a diagnosis
- Those who are at an increased risk of developing a genetic illness due to their family history
However, some genetic tests are for healthy individuals wanting to be proactive about their health. At Baylor Genetics, we have a test for that. Our Adult Screening Exome screening is a high-powered comprehensive genetic test that uses whole exome sequencing technology to screen a person’s exome.
What is an exome? Every person’s genetic code is made up of DNA. Some of this DNA is referred to as coding DNA and other parts are referred to as non-coding. These non-coding segments of DNA were given the name “junk DNA,” as it was believed they do not really do much in the body. The coding sections of DNA are known as exons and all the exons together are referred to as the exome. Most significant disease-causing variations in our genetic code reside in the exome. By using whole exome sequencing technology, the laboratory can investigate the exome to look for any disease-causing variants.
Benefits of an Adult Screening Exome Test
Baylor Genetics’ Adult Screening Exome provides healthy individuals with a comprehensive overview of their genetic blueprint. Two major benefits of having this information are for individuals to be aware of their risk of developing certain genetic conditions and the likelihood of their children having the genetic condition(s). Furthermore, if a genetic condition is detected, early intervention and medical treatment may be available.
How to Order an Adult Screening Exome Test
Individuals wanting to be proactive about their health and hoping to have BG’s Adult Screening Exome can have their preferred physician order a test. Once a physician has the test, the individual/patient will give a blood or saliva sample to be processed. The results from this complex test are presented in a report in three organized sections:
- The first section of the results contains information on genes and diseases related to your health.
- Certain variants in these genes have clear medical significance to your health or the health of your family members. An example of possible findings includes disease-causing variants in genes that significantly increase the risk of cancer or genes that may cause heart disease or neurologic disease, including dementia syndromes.
- The second section concerns your reproductive health.
- It includes information on genes and diseases that you are at-risk of passing on to your offspring. This is known as carrier testing for autosomal recessive conditions or X-linked conditions. Some examples include disorders recommended for reproductive screening by professional societies such as sickle cell, cystic fibrosis, and Tay-Sachs disease. Carriers of these conditions usually do not show any symptoms but are at-risk of having affected children.
- The third section of the report includes information about how you metabolize certain medications.
- This type of testing is commonly referred to as pharmacogenomics. Variants in genes involved in drug metabolism will also be reported. The genes to be reported in this category give information on how your body metabolizes warfarin and Plavix.
Conclusion
Adult Exome Screening is a very powerful test. It has the potential to tell you whether you are at high-risk of developing, for example, certain types of cancer or heart conditions. The genetic disorders tested and listed on the report are all conditions where medical management can be given to change the outcome, whether that be preventative surgery, medication, or surveillance. The test can indicate whether you are at increased risk of having a child with a serious medical condition and it can also tell you the most effective type of medications to be prescribed based on your metabolism. As the old adage goes, “prevention is better than cure.”
Why Baylor Genetics?
Improving healthcare is at the core of who we are at BG. Through continuous innovation and research, our team is equipped to provide physicians the best results for their patients. We are able to diagnose rare diseases and disorders because of our existing large-scale, high-throughput capabilities and our CLIA-certified, CAP–accredited laboratory.
To learn more about our genetic tests, visit: https://www.bcm.edu/research/medical-genetics-labs/tests.cfm
