医学遗传学（英语：medical genetics）是将遗传学应用于医学的科学，研究领域涵及临床遗传学（clinical genetics）、生化遗传学（biochemical genetics）、细胞遗传学（cytogenetics）、分子遗传学（molecular genetics）、常见疾病的遗传学（例如神经管缺陷）、遗传咨询（genetic counseling）等学科。

人类遗传学与医学遗传学不同在于，人类遗传学的知识不一定在医学实践上应用，但是医学遗传学一定会在医学上应用。亨廷顿氏病（Huntington's disease）的研究，既是人类遗传学，也是医学遗传学的领域；而眼球虹膜颜色的研究（除非涉及白化症），就仅是人类遗传学，而不是医学遗传学的范围。

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.