To answer the question of genetic medicine we must first understand two key terms that it relies on.  genes and genetic mapping. So what are genes?  Genes are found on chromosomes and are made up of DNA.  They contain all of our hereditary information and provide the genetic code that allows our bodies to develop, grow and function.  Genes can play a role in our risk of developing certain disorders, and our environment affects how our genes function.

Genetic mapping on the other hand, is the process of identifying the locations of all genes on each chromosome.  It is quite literally the Google Maps of our genes.  Knowing the location of specific genes allows for research into disease-causing genetic material.  Similarly, understanding the function and location of genes can illuminate how faulty genes play a role in disease causation.  Gene mapping can also provide evidence that a disease transmitted from parent to child is linked to one or more genes.  Using this road map, scientists and doctors have developed what is known as genetic medicine.

What is genetic medicine?

Genetic medicine involves the diagnosis, management and counseling of individuals with hereditary disorders.  Incorporates gene therapy, personalized medicine and predictive medicine.

  ·       Gene therapy: is the insertion, alteration or removal of genes within and individual’s cells and tissues to treat disease; it corrects defective genes that are responsible for disease development.  Current research is investigating gene therapy for individuals with Parkinson’s, Huntington’s, HIV and color blindness

·       Personalized medicine: emphasizes the customization of healthcare based on the genetic composition of an individual.  This can be used to develop drugs designed based on an individual’s gene sequence and protein structure and can be targeted to a specific site in their body, thus reducing side-effects.  It can also be used to detect tumor markers before the physical signs and symptoms of a cancer arise or return and create targeted cancer therapy.

·       Predictive medicine: aims to predict disease and initiates preventive measures in order to prevent the disease altogether or to significantly decrease its impact on the individual.  This includes newborn screening, prenatal testing, carrier testing and preconception testing. This type of testing allows prospective parents to understand the risk of diseases and traits in their current or future children.

How does it work?

Researchers collect blood or tissue samples from a person who has a certain disease or trait.  The DNA from these samples is isolated and examined for unique molecular characteristics.  Currently, genetic medicine is used to treat cystic fibrosis, muscular dystrophy and multiple myeloma.  There are also some centers that create individualized drugs to target specific diseases within the body.