Question

Medical Genetics - What Should You Know About It?

Dr.Seema Thakur · Accepted Answer

Medical genetics is a branch of medicine that involves identifying the cause of human biological variation. Medical genetics help to determine the health and disease of a person which are hereditary in nature. It involves the study and counseling about the pathogenesis, etiology, and natural history of disorders and diseases that originate genetically.

Medical genetics is different from human genetics in the way that human genetics involves the research and scientific study of the genome structure that may or may not suggest medicine practice. However, medical genetics is related to the application of genetic studies to medical care.

Both human genetics and medical genetics consider the analysis of the causes and inheritance of genetic disease. However, the diagnosis, treatment, management of the genetic disease is considered only in medical genetics.

Genetic Study and Genetic Medicine -

The term genetic medicine is new in medical genetics that includes areas such as personalized medicine, gene therapy, and predictive medicine. This personalized medical care is attained by the genetic study of the individual. Medical genetics incorporates different fields such as genetic counselors, clinical physicians, and nutritionists. The clinical laboratory activities involved in the diagnosis, analysis, and research about the genetic structure help to determine the causes of genetic diseases.

Genetic Disorders Related to Medical Genetics -

There are certain conditions generally relates to the issues or abnormalities of the genetic structure in an individual which are called genetic disorders. Some common genetic disorders that are studied within the scope of medical genetics include:

Dysmorphology

Birth defects

Mental retardation

Mitochondrial disorders

Autism

Skeletal dysplasia

Cancer genetics

Connective tissue disorders

Prenatal diagnosis

Teratogens

Genetic Counselling -

Medical genetics also includes a process in which information about the conditions related to genetic structure, diagnostics, and the potential threat to other members of the family. This process is called Genetic Counselling. This is performed by experts who are a non-physical member in the team of medical genetics. These experts provide a family risk assessment and counsel about potential dangers to the members of the family who has genetic disorders. They provide counseling personalized on the basis of the genetic disorder.

Take Away -

Medical Genetics is a medicinal branch that deals with the diagnosis, treatment, and of the conditions related to hereditary disorders. The hereditary disorders are generally the abnormalities in the genome structure that run in a family. Some common genetic disorders that are diagnosed and treated with the help of medical genetics are mental retardation, autism, skeletal dysplasia, cancer genetics and such others. Apart from genetic disorders, medical genetics is now becoming increasingly common in dealing with various common diseases such as endocrine, neurologic, cardiovascular, ophthalmologic, pulmonary, dermatologic, and psychiatric conditions.

Medical genetics involves the clinical diagnosis and treatment of genetic disorders. Not only the physical treatment, but medical genetics also involves the treatment of such genetic disorders by the non-physical team of medical genetics called genetic counselors.

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