By Justin Farris

The Importance of Discussing Your Genetic Test with Your Provider or Other Professional

Note: This post is written by Susanne Haga, Education Director of the Duke Center for Genomic and Computational Biology and the Duke Center for Applied Genomics and Precision Medicine. She is an Associate Professor of Medicine at Duke University School of Medicine. Part of her work focuses on how to effectively communicate genomic test results to patients, assisting patients with understanding the impact of the test result for their health, and helping health providers obtain the knowledge resources they need to appropriately deliver genomic medicine. Dr. Haga’s work has resulted in numerous publications in leading journals and books.

Virtually all of us have been to the doctor’s office and had medical testing ordered. Often times, routine testing is ordered as part of an annual examination or wellness check-up. In other instances, we may be taking medications and regular testing is required, such as for diabetes or high cholesterol. And in another situation, testing may be ordered to diagnose a new problem. If medical testing is required, chances are that the discussion with the provider is brief, if it happens at all. Maybe something like “you’re due for some blood tests.” If medical testing is needed to better understand the cause of new symptoms, the provider may describe some potential causes and explain that testing is needed to confirm a diagnosis.

For some patients, the details of getting testing (where do I go, when do the results come back, how much does it cost, will insurance cover it, will you call with the results, etc.) may dominate the conversation rather than the specific details about testing (what exactly does the test analyze, what is the normal range of values, what is the clinical significance of an abnormal value, will further testing be required, etc.). If you’ve ever glanced at the order form for medical tests, much of it is abbreviated, and there are a lot of numerical codes. Things like “HCL,” “1A1,” and “K” – mostly incomprehensible! Many of us simply wouldn’t know what to ask when it comes to medical testing and we quickly defer to the provider to order the appropriate tests. However, more discussion upfront can help both providers and patients determine the most appropriate testing and, later on, discuss the results. For example, you may have had the same testing done in the past, which may be helpful for the provider to know about so they can compare the new results to past results. Start with the simple questions like ‘why do I need this test’ or ‘what is this test for’? In some cases, when multiple tests are ordered, it won’t be possible to explain every single one, but a general description would still be helpful.

Genetic testing warrants a discussion with the provider or possibly a genetics expert (like a genetic counselor, if available). Genetic testing typically analyzes some of the DNA (genetic material inherited from our parents) in our blood to determine if there is a difference that may explain our condition/medical problem. While many of these tests may explain or predict a medical disease/condition, other types of genetic tests can help predict how a patient will respond to a particular medication. As with other tests, the extent of the discussion with the provider may differ depending on what type of genetic test is ordered. In addition to general questions asked about any type of medical testing, you should have a clear understanding of the following: 1) why the test is needed; 2) how it will help with your current condition/problem; 3) the risks of testing; 4) implications for your health insurance, life insurance, etc.; and 5) implications for your blood relatives (remember, genes are shared).

The bottom line is this – don’t be afraid to ask questions. Take the opportunity to learn from your health provider and show an interest in your health.

Source: Agency for Healthcare Research and Quality. Asking questions about medical tests. http://www.ahrq.gov/consumer/cc/cc020508.htm

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