by Alaa Belmokhtar
What Is Genetic Testing?
Genetic testing is a form of testing that detects changes (mutations) in one’s DNA or genes. Through this process, genetic conditions can either be confirmed or ruled out, and possible hereditary traits or disorders can be determined. Although genetic testing was introduced relatively recently, in the 1970s, it has already advanced extensively as there are now over 1,000 different genetic tests in circulation.
How Does It Work?
Typically, genetic testing is completed during a genetic consultation which can be ordered by a medical geneticist, primary doctor, or nurse practitioner. During this test, a sample of blood, skin, hair, or other tissue is taken and sent to a lab. Lab technicians then use microscopes to determine if there are any changes or mutations in the chromosomes, which align with specific disorders.
Types of Genetic Testing
Newborn Screening: This refers to the common practice of testing newborns for genetic abnormalities. Through this screening, medical care and treatment can be started immediately, from the beginning of the infant’s life, which allows the newborn’s body to be more receptive to the treatment and continuing to live a healthy life.
Diagnostic Testing: This testing is used to detect or rule out genetic conditions, such as cancer, when a physician suspects the condition based on the patient’s symptoms. Diagnostic testing can be done at any point in a person’s life and even before they are born.
Presymptomatic and predictive testing: These types of tests are used to identify changes in a person’s chromosomes to predict their risk of developing certain conditions that are genetically inherited, such as some types of cancer.
Carrier testing: Some genetic conditions are derived from the occurrence of two copies of a certain genetic mutation. Carrier testing can determine if a patient harbors a copy of the mutation, which can provide them with information about their ethnic or family history of a disorder, as well as notify them of potential risks if they decide to have children.
Pharmacogenetics: This type of genetic testing is used in pharmacology, as its name conveys. It is utilized to provide a patient with personalized medicine and dosages, according to their genetic background.
Prenatal testing: This refers to testing that occurs during a pregnancy to determine mutations in an embryo’s genes that could lead to it being born with certain genetic conditions. This type of testing can help potential parents make decisions about their pregnancy and future.
Preimplantation testing: This is a unique method that is utilized before a pregnancy is started using in-vitro fertilization; it identifies mutations in an embryo that is created using in-vitro. Through this process, embryos with genetic changes relating to specific disorders are removed, and only embryos without the mutations are reimplanted.
Genetic testing is a fairly new industry and practice, and it has its benefits and limitations. Regardless, it has potentially vital benefits to some, as it can detect mutations and potential conditions early on, which provides patients and family members with useful information that can help them make educated decisions about their health and the steps to take in treating these genetic disorders.
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