While I was studying genetic counseling at my university, I remember being told clinical genetics covers all the way from the womb to the tomb. Certain medical specialties focus on an individual’s particular developmental period, such as obstetrics, pediatrics, adult medicine, or geriatrics. Whereas clinical genetics includes the full gamut of an individual’s life. To help others understand how genetics truly plays a role throughout one’s life, I created a fictitious story involving a family and their use of clinical genetics for their health and wellbeing needs.
The Story of Bob and Joan Smith
Bob and Joan are both 28 and live in Houston, Texas. They have been married for 18 months and are excited to start a family. They consult with their OBGYN who suggests an expanded carrier screen. Joan has the Female Complete GeneAware test (TC 60101) and finds out she is a carrier of cystic fibrosis. After learning the news, Bob decided to have the Male Complete GeneAware test (TC 60106) and was found to not be a carrier of any of the conditions tested.
Joan falls pregnant and at 11 weeks of pregnancy, she undergoes the PreSeekTM non-invasive prenatal test, which returns a low-risk result. Joan and Bob are reassured by these normal test results and enjoy the rest of the pregnancy. Joan has a healthy baby boy who they name Jed.
About a year after Jed was born, Bob’s mother calls to let him know that Bob’s dad had seen his neurologist due to his change in personality, forgetfulness, and awkward arm movements. The neurologist suspects Huntington’s disease and orders genetic testing (TC 6034). A few weeks later Bob’s father receives a positive result. Bob is offered genetic counseling; however, he declines as he does not want pre-symptomatic testing at this stage for Huntington’s disease.
A few months later, Bob’s mother calls with some sad medical news. She has just been diagnosed with uterine cancer and her genetic counselor said that this diagnosis is linked to an inherited condition called Lynch syndrome, which predisposes those that carry the faulty gene to bowel and uterine cancer. Bob again declines genetic counseling, but he does undergo a colonoscopy, which is clear.
Months go by and Jed starts kindergarten. Jed’s teacher notices that his learning is behind and his teacher recommends that he sees a pediatrician. During his first appointment, Jed’s doctor orders a microarray (TC 8665) and Fragile X testing (TC 6573). These results return normal and Joan and Bob decide to watch and wait to see if any other symptoms arise.
Joan’s mother Phyllis calls. Phyllis’s nephew (that is, Joan’s first cousin) Louis recently died of a sudden, unexpected cardiac arrest. After an autopsy, Louis was found to have had a cardiac genetic condition called Long QT syndrome. Sadly, often the first symptom in a family of Long QT is sudden death. Phyllis had met with her genetic counselor earlier that day and found out that she had tested positive for Long QT syndrome. Joan, unlike Bob, wants as much information about her health and decides to have genetic counseling. During this process, she undergoes testing and she too tests positive for this variant. Joan’s cardiologist arranges for Joan to have an implantable defibrillator implanted and for her to go onto medication in the hopes of reducing her risk of having a heart attack.
Things start to calm down again for the Smith family, but they start to notice Jed’s behavior change. During his review appointment with his pediatrician, he is diagnosed with autism and developmental delay and referred to see a clinical geneticist. The clinical geneticist notices that Jed is regressing and orders a trio Whole Exome Sequencing test (TC 1600) along with a Global MAPSTM test (TC 4900). Unfortunately, Jed is diagnosed with a rare genetic condition that explains his features.
I was going to keep going with this story; however, I think the Smiths have been through enough. As you should be able to see through the story, when there is a strange illness in the family, there is usually an underlying condition. In addition, it doesn’t matter if you are young or older, genetics plays a huge factor in your long-term health. With early intervention and knowing your genetic blueprint, you can be prepared like Joan and take the steps needed to manage and/or treat a disease/disorder.
Lastly, whenever there is a time you need a genetic test, Baylor Genetics has tests for each stage of life you are at. Hopefully, you will not need them, but if you do, we are here.
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://test-dev.baylorgenetics.com/
