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Why Genetic Testing Isn't All You Need When You're Undiagnosed

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When I was in my late 20s, my general practitioner told me that one day my family would find out my rare disease diagnosis on my post-mortem. At that time, I was a young single woman and I laughed because it sounded so absurd — “You’re kidding me, right?” She wasn’t.

Completely Complex

I read an article two years ago which stated that if a condition affects multiple systems of the body, look for a genetic cause. By this point, I had already seen 10 neurologists, several gynecologists, a rheumatologist, a GI specialist, a cardiologist, an endocrinologist, and so on ad nauseam. I felt like a hot potato passed around and being charged for the pleasure. After several years, all I could show for it was a stack of bills and an unhealthy, unnecessary fear of clinicians.

The Pieces Were Out of Order

It wasn’t that all my test results were “normal” — they weren’t. The problem, as I see it, was along the way clues surfaced. The clues were confusing and hard to connect with other pieces like my symptoms or presentation. Findings were often buried in reports and easily missed by a well-meaning but overwhelmed GP. It’s not like I was her only patient.

A few years later my GP retired and I moved, which meant finding a new GP. I made an appointment and posed the question, “Could the underlying cause be genetic?” Even though my new GP agreed that I was living with a rare, undiagnosed condition, she told me that genetic testing was not available to me.

The Costs of Testing

I came to realize that the testing is available, but access is another issue. According to the National Institute of Health, genetic testing is often covered by insurance when requested by a doctor. However, the outcome may affect insurance coverage and there may be a hefty co-payment involved. Also, it helps to have an idea what the condition could be when ordering specific genetic tests. Direct-to-consumer tests which sequence your whole genome, almost 100 percent of your DNA, are available but may still be financially out-of-reach at costs above $600.

Access to Quality Testing

I found a company offering whole genome testing from a Clinical Laboratory Improvement Amendments certified lab (CLIA is a set of United States regulatory standards). While the cost was more than I normally spend on anything, it was well below what I’ve spent on co-pays in a single year, making it an easy decision for me.

For many people, receiving testing either through a clinic or paying out-of-pocket can be expensive and a frustratingly long wait. The good news is, the cost of direct-to-consumer testing is falling with more companies entering the playing field and sequencing technology is advancing rapidly. But buyer beware, direct-to-consumer testing companies can come and go like any business. In my opinion, be sure you’re getting what you need — all your raw data as well as any reports promised.

Trying to Solve the “Puzzling” Patient

What my experience has taught me is that symptoms, clinical presentation, or lab tests aren’t in themselves the solution to the puzzle. We’ll still need curious doctors, vocal patient advocates, and advanced testing methods to start seeing the whole picture of a patient. 

What has helped me make sense of my puzzle has been my tenacity and willingness to actively collaborate with any clinician who will take the time to listen. I’ve also massively benefited from the emergence of expert patients — “a person who has been empowered with the skills, confidence, and knowledge needed to play an active role in making informed decisions about their own health care and management of their chronic condition.” These patients have helped me learn and grow into my own sense of empowerment.

While my odyssey continues, I feel like the picture is finally coming into focus thanks to more advanced and accessible testing and the patients who advocate for these advancements.

Originally published: March 11, 2019
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