Genetic Testing

A negative genetic test result when you have a genetic condition

A diagnosis of a genetic condition can be made by the specific health or development concerns that you have, by the results of a genetic test, or by both of these things. A diagnosis that is based on patterns of specific health or development concerns is called a clinical diagnosis.

Some people with a clinical diagnosis of a genetic condition have a negative genetic test. This means that the genetic test did not find a genetic cause for the health or development concern. A negative result is also sometimes called an uninformative result.

What is a genetic test?

A genetic test reads through some of your genes to look for differences (called variants) that disrupt the gene and cause health or development concerns. Depending on the test your healthcare provider ordered, the test can read through just 1 gene or it can read through as many as 20,000 genes. You can think of genetic testing like reading through a book, a shelf of books, or even an entire library to see if there are any misspelled, extra, or missing words that could cause a book to not be understood.

What does it mean to have a negative genetic test result?

Sometimes, even when someone has a clinical diagnosis of a genetic condition, a genetic cause is not found by genetic testing. This does not take away the clinical diagnosis. Instead, it most likely means that we do not have the knowledge or technical ability to identify the genetic cause.

There are many reasons for a negative genetic test result. For example, the genetic test may not have checked for every possible genetic cause of your or your child’s genetic condition. In this case, your healthcare team may plan for more in-depth genetic testing.

In other cases, the genetic test checked for every known genetic cause of the genetic condition, but:

• There are genetic causes for the condition that have not been found yet. As new genetic causes for health and development concerns are continually being identified, additional testing for these new genes may become possible in the future.
• Technical limitations with genetic testing mean that genetic differences are there, but they are unable to be detected by testing. As testing technologies continue to improve, future genetic tests may be able to find a genetic cause, no matter what the genetic difference is.
• The genetic cause can be more complicated than 1 genetic cause in 1 gene. This is called a complex or multifactorial genetic condition. If you have a complex or multifactorial genetic condition, there may be small genetic differences in dozens or hundreds of genes that increase your risk for a particular condition. This is called polygenic risk. Complex or multifactorial genetic conditions can also be affected by lifestyle factors, environmental factors, or chance. Genetic testing for complex or multifactorial conditions is either not available or not covered by Alberta Health Care at this time.

Talk with your healthcare team about which reasons for a negative genetic test result might apply in your or your child’s situation.

What does this result mean for me and my family?

A negative genetic test result does not take away a clinical diagnosis of a genetic condition. Keep attending scheduled appointments with your or your child’s healthcare team and follow their treatment, management, or screening recommendations.

Talk with your genetics healthcare team for information about the level of risk for your relatives and what screening tests may be available to them. Because the genetic test did not find the cause of the condition, genetic testing will not be able to tell your family members if they have also inherited the genetic cause for this condition.

As genetic testing is improving all the time, your healthcare team may suggest a follow-up appointment, a new analysis of your test results, or new referral from your family doctor after some time. We may be able to understand your specific genetics better in the future. Talk to your genetics healthcare team if you have any questions.

To see this information online and learn more, visit MyHealth.Alberta.ca/health/aftercareinformation/pages/conditions.aspx?hwid=custom.ab_genetics_negative_result_cond_inst.

For 24/7 nurse advice and general health information call Health Link at 811.

Current as of: August 23, 2024

Author: Clinical and Metabolics Genetic Program, Alberta Health Services

This material is not a substitute for the advice of a qualified health professional. This material is intended for general information only and is provided on an "as is", "where is" basis. Although reasonable efforts were made to confirm the accuracy of the information, Alberta Health Services does not make any representation or warranty, express, implied or statutory, as to the accuracy, reliability, completeness, applicability or fitness for a particular purpose of such information. Alberta Health Services expressly disclaims all liability for the use of these materials, and for any claims, actions, demands or suits arising from such use.