Genetic screening is the latest technology in disease testing that allows people to make informed decisions about their health care. This type of advanced medical testing is used to identify changes in chromosomes, genes and proteins in a person's DNA. Changes can be indicative of the patient's vulnerability to certain medical conditions such as breast cancer.
Whether the test results are positive or negative, they will benefit the patient. For instance, a positive result for a certain condition means that the patient can start taking preventative measures before a possible diagnosis in the future. A negative result can provide the patient with peace of mind with regards to their health. Many people also decide whether or not to have children using the results of their genetic test.
Types of genetic tests
There are several types of tests available, these include the following:
Newborn Screening: These are carried out immediately after birth to identify genetic disorders. This enables the parents to begin treatment early on in their infant's life.
Diagnostic testing: This is commonly used to confirm the diagnosis for a suspected condition or to rule out certain conditions. Results can help people manage their condition better by selecting appropriate treatment methods.
Carrier testing: Many people have a family history of a certain genetic disorder, and they want to see whether they carry two copies of the respective genetic mutation. Two copies mean that the person is affected by the particular genetic disorder. Couples can partake in this type of testing to see their risk of having a child with a genetic disorder.
How is testing carried out?
Prior to having the test done, the person initially has a genetic consultation. During this consultation, a genetic professional discusses concerns and family history with the person. Discussing family history may involve drawing up a family tree called a pedigree to see how likely it may be that the person is a carrier for a certain genetic condition. Following this consultation, a sample of blood, skin or hair is taken and sent off to a genetic testing laboratory. The report is then sent to the genetic professional who will then schedule a follow-up appointment to discuss results.
Cost and considerations
The total cost of the test depends upon how complex it is and how many family members are being tested. It is also important to ensure that the clinic where the genetic test is carried out is complying with national regulations.