When Should Genetic Counselors Look at Huntington’s Test Results?

Last week, I was listening to GC Chat, a genetic counseling podcast, and it got me thinking about the Huntington’s disease (HD) genetic testing process.

In Season 3, Episode 3, “A Heavy Burden,” hosts and genetic counselors Ashley Crook and Ellenore Martin discuss a case in which a genetic counselor had a patient who was being screened for cancer risk. The process is somewhat similar to someone at risk for HD undergoing genetic testing.

The patient provided a saliva sample, which was sent to the laboratory. A few weeks later, the genetic counselor who was working with the patient received the results and looked at them ahead of the results appointment. Unfortunately, the patient had the genetic cancer mutation.

However, the patient got cold feet and decided she wasn’t ready to know the results, so she canceled the appointment. The genetic counselor then faced a moral dilemma, as they were aware of health information that would be very important for the patient and her children to know about.

What was the genetic counselor supposed to do?

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This case made me wonder, what is the proper protocol for genetic counselors and other healthcare professionals who are part of the genetic testing process? When should counselors look at the results? As soon as they arrive from the lab, while the counselor is preparing for the appointment, or while they’re meeting with the patient, so both learn and process the results at the same time?

Waiting for genetic testing results is stressful. During the appointment, most patients will try to analyze the healthcare professional’s mannerisms to gauge the answer before it comes out of their mouth, which can cause even more anxiety. Would it relieve stress for the patient to know upfront that the person delivering their results is viewing them for the first time, too?

I underwent genetic testing in 2010, and frankly, I don’t remember how my results were shared with me. I didn’t use a genetic counselor as I probably should have, but luckily, I received a negative result. I do remember that for three weeks after I gave blood, I was anxious waiting to be notified that my results were in. When I got the call, I was analyzing the person’s voice and searching for any hints about the result, even though I knew I had to wait until my in-person appointment for answers.

If you are at risk for Huntington’s disease and considering genetic testing, I encourage you to seek out your nearest HDSA Center of Excellence or find a skilled and knowledgeable genetic counselor through the National Society of Genetic Counselors. Make sure to ask whoever is helping you through this journey what the process will look like so that you and your loved ones can mentally and emotionally prepare.

For any genetic counselors reading this, when do you open a patient’s test results? Are there any legalities or best practices you can share?

For anyone who is at risk for HD or has gone through genetic testing, when would you prefer your counselor looked at your results?

Please share any personal stories or thoughts in the comments below. Thanks for reading!

Note: Huntington’s Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Huntington’s Disease News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to Huntington’s disease.