Medical genetics

Medical genetics is the branch of medicine that applies genetic principle to medical practice. It covers the study of inheritance, mapping disease genes, diagnosis and treatment, and genetic counseling. encompasses several interconnected branches, all focused on the role of genes in health and disease.

Medical genetics further have the following sub-specializations:

  • Clinical Genetics: It involves the diagnosis, management, and counselling of individuals and families affected by or are at risk of genetic conditions. This includes prenatal diagnosis, paediatric genetics, adult genetics, and cancer genetics. 
  • Molecular Genetics:
This explores the molecular mechanisms underlying genetic disorders, including gene mutations, DNA repair, and gene expression.
  • Cytogenetics:
This branch includes the study of chromosomes, their structure, and relationship of abnormalities in chromosomes could lead to genetic diseases.
  • Biochemical Genetics:
This field investigates the biochemical pathways affected by genetic mutations and how these disruptions can cause disease.
  • Pharmacogenetics:
This area examines how genetic variations influence an individual’s response to medications, allowing for personalized drug therapies.
  • Genetic Counselling:
While not a branch of genetics per se, genetic counselling is an integral part of medical genetics. It provides individuals and families with information about genetic conditions, their risks, and available options for management and prevention.
  • Prenatal Diagnosis:

This involves identifying genetic abnormalities present in the foetus  at the time of  pregnancy, thereby allowing for early intervention or informed decision-making. 

  • Cancer Genetics:

This branch focuses on the genetic basis of cancer, including inherited predispositions and the genetic changes that drive cancer development and progression. 

  • Genomics:

This rapidly evolving field uses large-scale genomic data to understand the genetic basis of diseases and develop new diagnostic and therapeutic approaches. 

  • Immunogenetics:

This branch studies the interaction between the immune system and genetics, including the genetic basis of autoimmune disorders. 

  • Developmental Genetics:

This area investigates the role of genes in human development and how disruptions in these processes can lead to birth defects and developmental disabilities. 

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