When diagnosing genetic illness and deciding on an appropriate treatment plan for a patient, physicians rely largely on educated guesswork. After that, it takes trial and error to determine whether the treatment works. But with advances in genetic testing, much of the guesswork can be eliminated and replaced with scientific certainty.
Genetics already help medical professionals in a few different ways, like identifying single nucleotide polymorphisms (SNPs) that lead to genetic conditions. Testing can also help us more successfully treat illnesses that are caused by the interaction of two or more polymorphic genes.
Conditions like cystic fibrosis, sickle cell anemia, and Duchenne muscular dystrophy, among many others, are caused by different changes within a single gene. In the past, these diseases were referred to as birth defects because they are expressed at birth. Genetic testing now offers a way to identify them and confirm diagnoses early.
