How to Help Your Patient Understand Genetic Testing Results

The cat’s out of the bag, the horse has long since gallupped out the open barn door – whatever escaping animal metaphor you prefer, direct-to-consumer (DTC) genetic testing is here, and patients are now asking healthcare professionals for help interpreting results.

What do you do when a patient comes to your clinic and wants to know more about their genetic testing results?

The short answer

The best thing to do for a patient with DTC genetic test results is a referral to a genetic counsellor and/or genetics clinic. Genetic counselors have the training and experience to evaluate the results and see if there is a need for confirmatory clinical testing (most DTC tests aren’t held to the same laboratory standards as those ordered by a clinician, so any results that could impact medical management should be retested in a clinical lab) or further tests based on other factors like family history.

Genetic counselors specialize in explaining, in plain language, what the results mean in the context of a commercial, made-for-profit medical test that is not always accurate and usually doesn’t tell the whole story. For example, most DTC tests of the BRCA1 and BRCA2 genes only look at three common mutations, when there are potentially thousands that could affect an individual’s risk for breast, ovarian, or other cancers. This is important information, but not always clear to consumers, especially those with low health literacy (which is actually most people.  This terrific and quick read from the NYT illustrates this problem well.

DTC genetic tests also vary widely in terms of accuracy and reporting. I’ve done some DTC genetic testing on myself and, in sifting through the reams of raw data, have found likely mistakes. Dealing with large amounts of data as well as their potential health implications can be confusing even for the experienced clinician, let alone patients without a medical background. Genetic counselors have been playing catch-up, too, as there are more and more referrals requested to review DTC results, which just a few years ago was a rarity or even unheard of.

Getting help with shared decision making

Genetic counseling isn’t just about understanding the science, though.As a GC, my goal is shared decision-making specifically related to genetic testing, to help a patient decide what to do with their genetic information.This includes discussing personal values, engaging in hypothetical scenarios, and other activities. Given the impact that genetic information can have not only on one’s personal health but those of family members, the choices can become even more fraught. What may have seemed like a fun, $99 stocking stuffer of a DNA kit can quickly turn into difficult choices and discussions.

But back to the original question – what do you do for the  patient who seeks your help for these kind of results? You can make the referral to a genetics professional with the experience and knowledge to interpret these results, of course, but you can offer a great deal simply in how you respond to what brought your patient to see you. With genetic testing, it may just be curiosity, but often, it’s fear, or a belief in complete genetic determinism (e.g. if the test says I’m in the highest risk category for Alzheimer’s, then I am going to get Alzheimer’s, right?), or guilt about maybe already having passed on a “bad gene” to children.

By its very nature, genetics has familial implications that are often absent from other specialities, and related feelings are often unstated by the patient but churn beneath the surface. However, all clinicians, regardless of specialty or scope, can make a positive impact on a patient’s state of mind when they show up for their appointment, printed report or USB key in hand.

Here are a couple simple ways to help your patient:

1.) Ask your patient how they feel about the DTC results.

Make time for their story and listen to what they have to say.

2.) Reassure your patient that it’s normal to feel however they’re feeling about the results.

Listen to your patient’s concerns and fears. Provide empathy and make sure to convey to your patient that they are not alone, and that you will help them get connected to a genetics counselor if needed.

It can be tempting to turn away from strong emotions and retreat into the numbers, facts, and statistics of clinical medicine. Instead, help your patient feel more empowered. Your patient might be feeling confused, worried, or guilty. And whatever you do, whatever your opinion of DTC medical testing, don’t disparage the patient or the company they entrusted with their DNA – shame doesn’t help, and may discourage your patient from following through on referrals. Use skills that apply for any sensitive clinical encounter: listen, acknowledge, and reassure of your presence in the process. Then visit www.nsgc.org and find a clinic or genetic counsellor for follow-up.