Genetic testing has revolutionized modern medicine, providing valuable insights into disease risks and enabling personalized health care. By analyzing DNA, these tests reveal mutations that may increase susceptibility to certain diseases, allowing for early diagnosis and customized treatment plans. Below, we explore what diseases can be detected through genetic testing.
How Does Genetic Testing Work?
Understanding what diseases can be detected through genetic testing starts with DNA basics. DNA carries genes that determine everything from appearance to bodily functions. Occasionally, gene mutations can occur, raising the risk of certain health conditions. Genetic testing identifies these mutations in two main ways:
Predictive Testing – Helps estimate the future risk of a disease.
Diagnostic Testing – Confirms or rules out a genetic condition, especially if symptoms are present.
Cancer Risk Detection
One prominent example of what diseases can be detected through genetic testing is cancer. Genetic testing helps identify hereditary cancer risks, as specific mutations significantly increase cancer likelihood. Detecting these mutations enables preventive steps.
BRCA1 & BRCA2: Mutations in these genes are linked to breast and ovarian cancer, with BRCA mutations raising breast cancer risk by up to 85%.
Lynch Syndrome: This inherited condition increases the risk of colorectal and endometrial cancers. Testing for Lynch syndrome allows for regular screenings.
Cardiovascular Diseases
Heart disease is another example of what diseases can be detected through genetic testing. Genetic mutations associated with heart disease are detectable, aiding in early intervention.
Familial Hypercholesterolemia (FH): FH causes high cholesterol from an early age, raising heart disease risk. Early detection allows lifestyle adjustments and medication.
Hypertrophic Cardiomyopathy (HCM): This thickens the heart muscle, making it difficult for the heart to pump blood, with genetic testing helping in managing HCM risks.
Neurological and Metabolic Disorders
Genetic testing can also reveal the likelihood of developing certain neurological and metabolic conditions.
Huntington’s Disease: A brain disorder that leads to motor and cognitive decline.
Phenylketonuria (PKU): A metabolic disorder affecting amino acid breakdown, which, if detected early, is manageable with dietary changes.
Genetic Testing: A Path to Proactive Health
By identifying mutations that increase disease risks, genetic testing provides powerful insights that enable proactive care. Whether for cancer, cardiovascular issues, or rare disorders, genetic testing equips individuals with the knowledge to take control of their health, leading to longer and healthier lives
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