Genetic tests take a close look at your DNA to reveal information about your health or your family. Every living thing has DNA that provides the code, or instructions, for every cell in your body. Your DNA is unique to you.
There are many ways genetic testing may help you. If you are living with PID, there may be a targeted treatment available now or clinical trials that need volunteers like you. Also, you can learn if other people in your family, including your children, may be affected or not.
Yes, free genetic testing is available for patients who qualify:
Researchers are discovering more about genetics and PID, including severe neutropenia and CVID, every day. Today there are more than 400 genes related to PIDs that have been discovered and new genes continue to be discovered every year. With these discoveries, more is being learned about the disease and how to treat it. A more specific diagnosis could change your treatment approach, eligibility for clinical trials, and family planning.
Talk to your doctor and ask if you might benefit from a genetic test. If your doctor thinks you might, a genetic counselor can help you think through the decision-making process.
Whole genome sequencing (WGS) and Whole Exome Sequencing (WES) are two methods of genetic testing for genetic disorders. Both methods use a new technology called Next Generation Sequencing (NGS). NGS is a way to sequence DNA very fast. NGS is becoming more common as they become more cost effective. They can determine variations in any part of the genome. Researchers use these methods to find genetic variants and mutations that cause diseases so they can help physicians make diagnoses in the future.
NGS is also used for targeted gene sequencing panels. These types of panels analyze specific mutations in specific genes. They look at genes that are either known to cause or that are suspected of being associated with a disease.
Since these methods look at all genes or sections of genes, sometimes a variant or mutation is found and is called a Variant of Unknown Significance (VUS) because it’s not known if it leads to disease or not.
A Lab Developed Test (LDT) is test that is designed and used in a single lab. An In Vitro Diagnostic (IVD) test is an FDA-approved test sold as a kit to a lab. Both test types are used to diagnose and monitor diseases. Researchers are quickly discovering new genes and biomarkers.
Sometimes, a variant or mutation is found and is called a Variant of Unknown Significance (VUS) because it’s not known if it leads to disease or not.
A genetic test result that says you are negative for a variant or mutation may mean that you are negative for a known genetic pathogenic mutation (or a mutation known to cause a disease). If you have a Variant of Unknown Significance (VUS), it may be causing the disease, but it may never have been reported before. A doctor or a genetic counselor needs to read your results and interpret them to understand what the results mean for you.
The Genetic Information Nondiscrimination Act (GINA) prevents your results from being used to impact your health insurance. However, GINA does not cover all the risks that should be considered before you proceed. These risks may include losing long-term care insurance, life insurance, disability insurance or employment with a company that has 14 or fewer employees. Some state laws may also have protections. You can search the Genome Statute and Legislation Database by state.