09/04/2024
- Large-Scale Genetic Testing -
What is Large-Scale Genetic Testing?
In the 1950s, a new medical tool was coming to hospitals to identify genetic disorders. This was done by looking at the deoxyribonucleic acid (DNA) for mutations or errors (Durmaz et al., 2015).
Over the decades, these tests have been refined and updated to be able to pinpoint over 1800 different genetic mutations that have an impact on an individual’s health.
There are multiple types of genetic testing available as of 2023, including a publicly available medical genetic test kit. While the accuracy of the commercial genetic test kits has been contested, the genetic tests done as part of a medical examination are highly accurate as they look for specific mutations or disease markers within a person’s DNA.
Large-scale genetic testing (LSGT) is a test that looks at most if not all, of an individual’s genes to identify any mutations or missing DNA pieces (Genetic Testing | CDC, 2022). There are two types of large-scale testing: exome sequencing and genome sequencing.
Medical Applications
The use of LSGT can identify over 6000 different medical disorders (Online Mendelian Inheritance in Man, 2023; Costain et al., 2021). LSGT can be used to identify your, or your familial, risks of:
Certain types of cancers
Familial hypertension
Familial hypercholesterolemia: The body is unable to process cholesterol, leading to a patient being at a higher risk of cardiovascular disease.
Diabetes
Multiple sclerosis
Alzheimer’s disease
Parkinson’s disease ...
Large-scale genetic testing (LSGT) is a test that looks at most if not all, of an individual’s genes to identify any mutations or missing DNA pieces (Genetic Testing | CDC, 2022). There are two types of large-scale testing: exome sequencing and genome sequencing.