Molecular genetic pathology is a medical specialty that integrates pathology and genetics to diagnose, analyze, and monitor genetic disorders. This specialty is critical to understanding why certain people acquire or are born with certain health conditions. Molecular genetic pathologists sequence and assess patients' nucleic acids (DNA and RNA) and look for mutations that signal the presence or risk of inherited genetic diseases like cystic fibrosis or sickle cell anemia. Molecular genetic pathologists can detect these potential genetic abnormalities, such as trisomy (extra chromosome) and monosomy (missing chromosome). Molecular genetic pathologists are physicians with additional training in pathology and molecular genetics and generally work in a laboratory using advanced equipment and technology. Conditions which a molecular genetic pathologist may diagnose include:
Children and adults may be asked to submit blood or cheek swab specimens for analysis by a molecular genetic pathologist. Molecular genetic pathologists also perform prenatal diagnostic tests or screenings to determine if an infant has or is at risk for a condition. This helps caregivers prepare and care for their baby before birth. Genetic pathologists may use the following:
After a test is completed, molecular genetic pathologists can interpret test results and advise patients on risk, prevention, and treatment options. Molecular genetic pathologists may collaborate with cytogeneticists, hematopathologists, clinical pathologists, geneticists, and hematologists.