history of genetic testing

A genetic test is a medical test that analyzes the DNA in your body by using saliva, blood, amniotic fluid, or tissue. By evaluating the coding of your DNA, a genetic test can determine if a mutation has occurred which may cause a segment of DNA to not function properly. These segments of DNA are called genes. If a gene does not function properly, it could mean that you have a confirmation of your diagnosis, are at increased risk for disease, or may pass on a genetic condition to a future child. The history of genetic testing is a long and fascinating tale worth knowing!


The Origins of Genetic Testing

Genetic testing took a long time to become readily available to the general population. The journey that led to the advanced genetic testing we have today started back in the 1600’s, when the newly invented microscope led to the discovery of a “cell”, or the millions of units that make up our bodies. In the 1800’s, a “chromosome” was then described, or the structure inside our cells that contain all of our genetic instructions. The famous Gregor Mendel then introduced the laws of inheritance of our genetic instructions in living creatures in 1865. Then in 1953, Watson and Crick discovered and shared what was inside those chromosomes, our DNA, and how DNA is responsible for passing on our traits and physical makeup from our families. All of these discovered paved the way for great advancements in genetic testing.

The first genetic test started in 1956 by obtaining a picture of a human’s chromosomes, looking at the overall big picture of our genetic information. This led to the discovery of chromosome conditions like Down syndrome, Turner syndrome, or Trisomy 18. After 1966 genetic testing could be performed not only with blood or tissue, but during a pregnancy by withdrawing a small amount of amniotic fluid. As technology improved, we were able to not only identify large pieces of chromosomes missing or duplicated, but we could also find smaller pieces as well. The microarray, which can analyze even smaller pieces of chromosomes that are missing or duplicated, was developed in the 1990s.


Recent Advancements in Genetic Testing

The field of genetic testing was rapidly evolving as we became more efficient with analyzing the overall big picture, our chromosomes. However, we still needed to figure out how to analyze the DNA inside our chromosomes, which is on a significantly smaller scale. With more discoveries of how our DNA functions in our bodies, and the rapid advancement of technology, the Human Genome Project was launched to map out the DNA coding of our entire bodies. The first draft of this project was completed in 2001. Since this first draft, genetic testing has been able to read through our DNA coding to look for single letters of coding that are misspelled, deleted, or duplicated, which explained even more genetic conditions and how they are passed in families. 

Today, genetic testing can be affordable and available to almost anyone who needs to pursue testing. There are many people who would rather not know that much health information about themselves and would prefer to leave it alone, compared to others who want to know as much as possible about themselves. With the help of health care professionals like genetic counselors, you can be prepared and make an informed decision on if genetic testing is the right decision for you and your family, and what to expect if you do pursue genetic testing.

If you’re interested in finding out more about genetic testing, contact AT-GC today!


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