Genetic Testing

What Is Genetic Testing?

Your eye color, your height and if you have dimples are all examples of inherited, or genetic, traits. Genes determine every aspect of your physical being and are solely passed down by your parents. Genetics do not just determine your physical appearance but also play a role in determining the diseases you are prone to (and how likely you are to develop them).

Genetic testing is a broad term that refers to (usually) laboratory-based testing of your DNA, genes and chromosomes. It can reveal changes, called mutations, that may cause illness or disease. It is most often used to confirm if you have or don’t have a specific inherited disease, if you have a higher risk of developing a disease and to determine if you carry an altered gene that might pass on a disease to your child. Although scientific research continues to advance, and we continue to learn about genetic links to diseases, specific genetic tests are still not available for many conditions. The good news is that genetic testing is readily available for many of the most serious inherited conditions.

Lung conditions that can be inherited include:

• Cystic fibrosis
• Alpha-1 Antitrypsin deficiency
• Idiopathic pulmonary fibrosis
• Asthma
• Pulmonary arterial hypertension
• Chronic obstructive pulmonary disease (COPD)
• Lung cancer

There are many reasons for considering genetic testing, and your first step should be to discuss the topic with your primary care provider. You may wish to know if you have a genetic condition that runs in your family before you begin having symptoms. Or to know what your chances of a child with a specific condition are.

What to Expect?

If you are referred to genetic counselling, your first step will be to review this complex process with a genetic counselor. They will sit down with you to better understand your family history, medical conditions and the reason you are seeking genetic testing. There may be limitations to what your insurance will cover with your medical plan, and it is also the time your healthcare provider will receive informed consent – meaning they have reviewed with you how the test will be completed, the benefits and limitations of the test and the possible outcomes of the test results. 

Most genetic testing is conducted through a blood sample. In some cases, you might be requested to provide saliva, a hair or skin sample or have your cheek swabbed. Once the tissue is collected, it is sent off to a lab to be analyzed. Your healthcare provider will let you know how long this will take, usually six to eight weeks.

Understanding the Results

On your next visit, your healthcare provider will review your test results and explain what they may mean for you and your family. Recommendations for follow-up care might include additional testing, screening, referrals, counseling or management of a condition identified by the test.  

What are the Risks?

The physical risks associated with getting a genetic test are minimal as collecting a blood or saliva sample, or a cheek swab are simple to conduct.

Although genetic testing comes with many potential benefits, it is crucial to weigh the potential risks carefully as there are many possible implications.

Emotional distress

Genetic testing can have significant emotional implications. It is important to be prepared for the possibility of receiving unexpected or negative results. Knowing that you have a predisposition to a condition that may develop later in life, or a condition that can be passed down to your children, can cause uncertainty in your life goals. Additionally, testing may identify diseases that have no treatment. You may feel angry, depressed, anxious or guilty. These feelings can put a strain on your relationships moving forward.  

Discrimination

There are laws that protect the privacy of your genetic information and protect against discrimination in employment or accessing health insurance based upon your results. However, your ability to obtain life, long-term care or disability insurance can be impacted by the results of your test. It is recommended to secure these insurances prior to testing because after the fact they may set higher premiums or deny you coverage. 

Uncertainty or false results

You may receive uncertain results, including incomplete or misleading information. Genetic tests aren’t perfect and may not provide complete information about the likelihood or severity of a condition you may or may not have. This can lead to a false sense of assurance or inversely lead to more questions. You may also receive a false positive that requires additional testing and causes undue anxiety.

Family implications

Your results may have an impact on family dynamics. Your findings may cause other family members to raise questions about their own health or genetic considerations which may result in stress, guilt or tension within the family.