Genetic testing is increasingly used to help manage, predict, and prevent health concerns, such as cardiomyopathy, epilepsy or birth defects. Conditions like these may be due to changes within our genes called variants that cause the gene to not function properly. A technology called “gene sequencing” is often used to find these changes by reading through the genetic code and looking for variants that might be causing disease. Sequencing tests may involve checking a single gene, a specific list of genes (gene panel), sequencing critical parts of all genes (exome sequencing), or sequencing everything (genome sequencing). Interpreting what these variants mean can be challenging and may result in uncertain results, called variants of uncertain significance (VUS). When a VUS is reported, it means we do not have enough information to know whether the variant will cause the condition associated with the gene or not and that uncertainty can be difficult for some people. The more genes that are evaluated, the more likely it is that we will encounter a VUS. However, a genetic condition could be missed if too few genes are tested.
Read Story
In 2022, Patrick was diagnosed with an ultrarare genetic variant – CACNA1C – which can cause both neurological and cardiac symptoms. Today, Patrick is making incredible progress – and his heart is monitored, too, to prevent any future cardiac episodes. All of this is thanks to one little mouth swab that changed the trajectory of Patrick’s life – and a helping paw from a furry friend.
Video about Seeing a Genetic Counselor for Pediatric Counseling
Newborn screening is a group of screening tests performed shortly after a baby is born, typically while they are still in the hospital. It includes an evaluation of hearing, heart function and specific conditions detectable via blood. The goal of this type of testing is to look for critical conditions that, while not immediately noticeable, can impact the long-term health of a newborn. This allows for early detection, diagnosis and intervention to improve a child’s quality of life as well as reduce risk for disability or even death.