How to talk with patients about genetic testing

If you haven’t already been asked by your patients about genetic testing, it’s only a matter of time. In fact, six out of 10 adult Americans are interested in genetic testing, according to a survey released in March by HealthDay.

Part of the attentiveness to genetics comes from the surge in healthcare consumerism — people are becoming more interested in ways they can play an active role in managing their health. Even the White House is placing emphasis on the importance of advancements in genetic testing with President Obama’s Precision Medicine Initiative.

As interest in genetic testing continues to build steam, it’s important that you are able to navigate patients' questions and concerns about genetic testing — not just to provide an excellent patient experience, but also to explore where appropriate the clinical benefits promised by personalized genetic information.

So, how do you give insight on genetic testing? Here are a few questions patients often ask about genetic testing below — along with some ways you can address their concerns.

Do the results of genetic tests provide practical information? How can results be used?
Many tests highlight genetic propensities that can help identify potential problems before they occur and avoid trial-and-error when searching for the right treatments through pharmacogenetics. This gives patients the ability to make more informed and proactive healthcare decisions. In addition, genetic testing can help to:

  • Provide early warning. For example, many people are aware that breast cancer can be associated with certain genetic mutations (BRCA1 and 2). Identifying these mutations can enlighten a decision regarding prophylactic mastectomy.
  • Guide or inform treatment. Some genes influence the efficacy of certain medications. So pharmacogenetic testing can sometimes provide significant clinical value by helping physicians tailor effective drug treatment regimens. For example, many people respond differently to antidepressants based on genetic mutations. By uncovering which antidepressants are not a fit for your patient, you can prescribe the most effective treatment regimen. This can help you avoid a trial-and-error scenario where a person does not respond to certain classes of drugs.
  • Confirm the presence or absence of a condition. Millions of pregnant women annually test for certain diseases in their unborn children via carrier screening, helping them to better prepare to accommodate any special needs. Testing can sometimes provide emotional relief as well, by helping patients understand that a condition is due to a person’s genetic makeup, and not caused by a preexisting habit.

When is the best time to consider genetic testing?
This question often comes up when thinking about family medical issues, so it can be a good time for you to explore family histories of conditions such as cancers, cardiac problems or mental health concerns.

For example, for people with a significant family history of breast cancer, testing for BRCA 1 and 2 can offer peace of mind or potentially life-saving information should the tested individual be at risk. Likewise, couples planning families may benefit from carrier screening, particularly if their family histories reveal inherited diseases such as cystic fibrosis, or Tay Sachs. Knowing the risks early can help patients seek out alternative or preventive treatment options.

When touching on the suggested timing of genetic testing, it can also be helpful to remind your patients that genetic testing is not like most standard lab tests. It does not merely uncover the presence or absence of an acute condition. Rather, results can reveal genetic information that can help them make informed decisions when it comes to their personal health. For this reason, genetic test results stay relevant over one’s entire lifetime. 

Are there other resources that give information about the meanings behind genetic test results?
Once patients receive genetic testing results, they may be wondering exactly what these results mean. In order to help them become as educated as possible so they can make informed health decisions it can help to share additional resources. Here are just a few useful tools:

As genetic testing continues to drive interest from patients and their caregivers, discussing these options opens doors to provide the best possible experience and care. By accessing genetic information, you can improve outcomes through treatment options specifically catered to each person’s genetic makeup.