Genetic testing

Genetic testing

Genetic testing: Benefits, Types, Risks & Limitations

Genetic testing is a process that involves looking for changes, referred to as mutations or variants, in an individual’s DNA. This type of testing has numerous applications in medicine and can influence the medical care that a person or their family member receives. For example, genetic testing can provide a diagnosis for genetic conditions such as Fragile X or information about a person’s risk for developing cancer. Genetic testing is carried out using a blood or spit sample, and the results are usually available in a few weeks. Since we share DNA with our family members, if an individual is found to have a genetic change, their family members may have the same change.

Before and after genetic testing, genetic counseling is recommended. This helps ensure that the right person in a family is tested, the right genetic test is conducted, and the results are correctly understood.


Benefits of genetic testing

There are several reasons why someone may choose to undergo genetic testing. These include finding out if a genetic condition that runs in their family may affect them before any symptoms develop, learning about the likelihood of a current or future pregnancy being affected by a genetic condition, diagnosing a genetic condition if symptoms are present, and understanding and guiding a person’s cancer prevention or treatment plan.

Despite the numerous benefits of genetic testing, some individuals may choose not to undergo it. This may be because it is not relevant to them, it is too expensive, or the results may cause worry or anxiety.

Clinical genetic tests, which are ordered by a doctor for a specific medical reason, are different from direct-to-consumer (DTC) genetic tests. DTC tests provide information about medical and non-medical traits, and healthy individuals usually purchase them. DTC tests cannot definitively determine whether a person will develop a disease, and they should not be used alone for making decisions about medical care.


Types of genetic tests

There are various types of genetic tests, and the approach to genetic testing is tailored based on a person’s medical and family history and the specific condition being tested for. Single gene testing looks for changes in only one gene, and it is carried out when an individual is believed to have symptoms of a specific condition or syndrome. Panel genetic tests look for changes in many genes in one test and are grouped into categories based on different medical concerns. Large-scale genetic or genomic testing, such as exome sequencing and genome sequencing, are ordered by doctors for individuals with complex medical histories.

Some tests look for changes in chromosomes rather than gene changes, and others involve gene expression tests that compare the expression of genes between normal cells and diseased cells.


Genetic testing results

Genetic test results can be positive, negative, or uncertain. A positive result means that a genetic change known to cause disease was found, while a negative result means that a genetic change known to cause disease was not found. An uncertain result means that there is not enough information about a genetic change to determine whether it is normal or disease-causing. It is important to note that a negative test result may not provide a definitive answer if there is a known genetic change in a person’s family that was not tested for.


Frequently Asked Questions (FAQs):

Direct-to-consumer genetic testing is a convenient way for individuals to learn about their genetic health and disease risks. It can provide personalized information and promote proactive health management. Unlike traditional genetic testing, it does not require approval from a healthcare provider or health insurance company, and the results are not typically included in medical records. Additionally, it is often less expensive than testing obtained through a healthcare provider, making it more accessible to those without comprehensive health insurance. DNA sample collection is usually simple and noninvasive, and results are available quickly. Furthermore, anonymous data from participants is added to large databases that can be used for medical research, potentially benefiting millions of people.

Direct-to-consumer genetic testing is limited in its ability to provide a comprehensive overview of your health. Although it can identify some genetic risks, other factors such as lifestyle choices, family medical history, and environmental influences can also contribute to the likelihood of developing certain disorders. These factors are typically discussed during a consultation with a healthcare provider or genetic counselor, but they may not be addressed when using at-home genetic tests.