Genetic testing has become increasingly popular as advancements in technology have made it more accessible and affordable. For many individuals and families, genetic testing can provide valuable insights into their health and genetic makeup. Here, you can learn about the different types of genetic testing and the benefits of having these tests done.
What Is Genetic Testing and When Is It Used?
Genetic testing is a medical procedure that analyzes a person’s DNA to identify changes or mutations in their genes, chromosomes, or proteins. These changes can offer clues about a person’s risk for developing certain diseases or their carrier status for genetic conditions. Genetic testing can also be used for diagnostic purposes, such as establishing if certain symptoms could be attributed to a specific condition or gene mutation.
What Does Genetic Testing Involve?
Typically, genetic testing requires a sample of a person’s DNA, which can be obtained through blood, hair, and other tissues. The DNA sample is then sent to a lab, where technicians analyze it for specific gene changes or mutations related to a particular condition or trait.
Although there are different reasons that may warrant genetic testing, the most common ones can be grouped into three categories: diagnostic, carrier, and predictive.
Diagnostic Genetic Testing
Diagnostic genetic testing is often conducted when a person is experiencing symptoms of a genetic condition, such as cystic fibrosis or muscular dystrophy. This type of testing aims to confirm or rule out a suspected genetic condition by identifying the specific gene changes responsible for the disease or symptoms.
Carrier Genetic Testing
Carrier genetic testing is performed to determine if an individual is a carrier for a specific genetic condition. Carriers may not have symptoms of the condition themselves, but they have the potential to pass it on to their children. This type of testing is especially important for individuals with a family history of a genetic disorder or those planning a family.
Predictive Genetic Testing
Predictive genetic testing is conducted before a person exhibits any symptoms of a genetic condition. It helps to determine if they have a gene variant, which may cause disease in the future.
Types of Genetic Tests
In order to determine the most appropriate test, your health care provider will consider several factors, including family and personal medical history, your symptoms, what condition(s) are suspected, and the genetic variations typically associated with those conditions. If a diagnosis is unclear, a test that focuses on multiple genes or chromosomes may be done. However, if a particular condition is suspected, a more focused genetic test may be utilized. Tests include:
- Single Gene Testing – Done when the healthcare provider believes there are changes or abnormalities in a single gene within your DNA. This type of test is generally performed on patients with symptoms associated with a specific condition or disorder.
- Panel Testing – Looks for variants in a number of genes. The tests are typically grouped into categories depending on the patient’s symptoms and medical concerns.
- Large Scale Testing (exome and genome sequencing) – Focuses on a person’s entire DNA, not just the genes. Large-scale testing is typically recommended for patients with complex medical histories and a wide range of symptoms.
What are the Benefits of Genetic Testing?
Genetic testing may be considered in various situations, such as if you have family members with known genetic disorders. These tests can help reveal whether you carry the same mutations and are at risk of developing the condition. Genetic testing can provide invaluable information to individuals and families, including:
- Identifying genetic conditions early, allowing for more effective management and treatment.
- Providing information for family planning purposes, such as determining the risk of passing a genetic condition onto children.
- Guiding personalized medical care based on a person’s unique genetic makeup, such as helping doctors determine which medications may be more effective. For example, individuals with certain types of cancers may undergo genetic testing to identify gene mutations that can influence treatment options and prognosis.
- Uncovering ancestry and genealogy information.
When To Consider Genetic Testing
The decision to undergo genetic testing is personal and should be made in consultation with a knowledgeable healthcare professional. If you have a family history of a genetic condition and have wondered about the possibility of you developing it or passing it on to your children, you may want to consider genetic testing.
Genetic testing can be used in conjunction with other healthcare services to provide you with a comprehensive, personalized treatment plan that focuses on your individual needs.
Genetic Testing in NYC
If you are interested in learning more about genetic testing and whether you could benefit from it, contact Dr. Tina Sindwani. We are proud to offer genetic testing, in addition to a comprehensive range of concierge medicine services to men and women across New York City.