If you’re confused about genetic testing, you’re not alone.
In recent years, DNA testing has become a much more accessible and widely accepted diagnostic solution. Today, testing is available for more than 2,000 conditions, according to the National Institute of Health (NIH)
Doctors across the world use these powerful tests to help identify risks, make diagnoses and select appropriate treatments. And due to the recent proliferation of direct-to-consumer (DTC) test kits, people are more familiar with the concept than ever before.
However, while many people have heard of genetic tests, the internet is rife with conflicting information. To dispel inaccuracies and ensure you have the facts, we’re breaking down everything you need to know about genetic testing for diseases.
What is Genetic Testing?
A genetic test is a medical assessment that identifies changes or variants in genes, chromosomes or proteins. After collecting a sample, such as a saliva swab, technicians analyze DNA to gather data about a suspected disorder.
The results of a test can help doctors diagnose a disease, or tell you whether you’re at risk for developing or passing down a genetic condition.
There are many different types of genetic tests, and each was developed for a different set of use cases.
For example, some tests help healthcare providers identify genetic diseases in infants and unborn babies, while others tell patients whether they’re a “carrier” of a disease-causing genetic variant. Certain tests help doctors learn more about how a patient’s body processes a specific medicine so they can choose the best treatment for their condition. Extensive DNA tests combine data on a patient’s genetics, medical history, biomarkers and environmental factors to provide a highly comprehensive overview.
Who Should Get Genetic Testing?
Your physician or a genetic counselor will be able to determine if you are a candidate for genetic testing. Choosing whether to complete a genetic test is a highly personal decision and something you should discuss with your healthcare provider. Furthermore, a genetic counselor will be able to provide you with additional information about a test, what the results could mean for you and your family. These professionals can guide you through the genetic testing process and help you navigate insurance coverage.
You may be a good candidate for genetic testing if you identify with any of the following:
- Several members of your family were diagnosed with the same disease
- You’re experiencing symptoms consistent with many diseases, which makes it difficult for your doctor to provide you with a clear diagnosis
- You have a chronic condition, like pancreatitis, and want a more personalized treatment plan
However, your physician or genetic counselor will be able to determine if genetic testing is appropriate for you.
Next Steps After the Test
If you decide to move forward with genetic testing, you’ll receive either positive, negative or uncertain results. You and your doctor or genetic counselor should review these results together to ensure you know exactly what they mean.
In some cases, you may also meet with a geneticist or genetic counselor who can provide additional insight into your results and support your care team in putting together the best possible treatment plan.
Identifying, diagnosing and treating complex and chronic conditions can be a complicated and frustrating experience for both patients and their healthcare providers. By using genetic tests, doctors can get a better insight into diseases and disorders, provide personalized care and drive better patient outcomes.