The future of DNA Genetics

The future of DNA Genetics: Epsiode 1: What is whole genome sequencing? [2021]

The future of DNA Genetics: Epsiode 1: What is whole genome sequencing? [2021] 1. What is whole genome sequencing? The vast majority of patients with rare diseases are on a merry-go-round in search of a medical diagnosis. They often undergo a battery of medical and lab tests that yield ambiguous, inconclusive, or incorrect results. The diagnostic process can many years before a correct diagnosis is determined. Approximately 80% of rare diseases are genetic. DNA testing is an exciting new biotechnology that helps identify rare diseases through the analysis of a patient’s DNA. It ushers in a new era of what is known as “personalized medicine.” This technology has the potential to save a patient years of misdiagnoses, testing, treatments, frustration and financial burden. It can foster an earlier course of correct treatment. The answers to genetic diseases are hidden in our DNA. However, not all DNA tests are the same. Some are genome subsets that focus on only small areas within the entire genome. This is known as exome sequencing. A more comprehensive form of this approach is whole exome sequencing, which sequences up to 2% of the entire human genome. Whole genome sequencing (WGS) captures the entire DNA sequence, and has finally become accessible and affordable to individuals. It requires no prescription or referral, and the results are often returned to the patient within a 30-day period. The sampling is non-invasive, usually requiring only a saliva sample. There is a an ever-growing body of knowledge in the identification of biomarkers involved with specific diseases. One particularly exciting area is in the diagnostics for mental disorders including major depressive disorder, bipolar disorder, and schizophrenia. Rare diseases including the range of epilepsies can be identified, where standard testing and diagnostics can pose a challenge for physicians. Misdiagnoses in the clinical setting are common. Even in the absence of meaningful sequencing data for certain rare diseases, a single WGS DNA test is a permanent record that can be used as a diagnostic tool for the lifetime of the patient. New discoveries are published regularly, and thus WGS is an invaluable one-time investment for those people seeking answers to their health problems. WGS can also be a valuable tool for identifying diseases before they present symptoms.