Molecular genetic pathology, according to the Accreditation Council for Graduate Medical Education, is the subspecialty of medical genetics, genomics, and pathology in which the principles, theory, and technologies of molecular biology and molecular genetics are used to make or confirm clinical diagnoses of Mendelian genetic disorders, disorders of human development, immunologic conditions, infectious diseases, and malignancies; to assess the natural history of those disorders; and to provide the primary physician with information by which to improve the ability to provide optimal care for individuals affected with these disorders.
As a subspecialty that involves the study of genetic and molecular changes in diseases—particularly cancer—molecular pathology is unique in combining pathology and molecular biology to study disease at a molecular level. Plus, its involvement with the rapid advancement of precision medicine helps molecular pathology play a crucial role in clinically interpreting genomic alterations to help cancer patients receive appropriate targeted therapies.