What is genetic testing?
Genetic testing is an incredibly useful tool for identifying changes or mutations in DNA that could lead to genetic disease.
What does genetic testing involve?
Genetic testing involves carrying out a range of tests on samples of DNA taken from blood, hair, skin, saliva, amniotic fluid (the fluid that surrounds the baby during pregnancy) and other tissues.
The DNA sample is then sent to the laboratory where scientists look for specific changes in the DNA to find and identify any genetic disorders.
The laboratory results are then sent in writing to the individual’s doctor or genetic counselor so that they can discuss them with the patient.
There are currently more than 2,000 genetic tests in use and more are in development.
Why is genetic testing needed?
A genetic test is generally performed in a particular individual or family for a specific medical purpose.
There are a number of reasons why a genetic test may be called for, these include:
Pre-implantation genetic diagnosis (PGD): Screening an embryo for a genetic disease.
Prenatal testing: finding a genetic disease in an unborn baby
Carrier testing: finding out if parents carry a genetic mutation that they could pass onto their future children
Predictive genetic testing: testing an adult for a genetic disease before they have symptoms, usually where the disease runs in the family and they want to find out if they may also be affected.
Diagnostic genetic testing: making a diagnosis in a patient that is showing symptoms of a known genetic disease.
Pharmacogenetic testing: determining the best dose or type of medicine to give an individual patient based on their genetics.