Why Genome Sequencing Can Be a Useful Tool in Your 'Undiagnosed' Toolkit

On the oftentimes lonely road of the undiagnosed patient, a lot of things can jump out at us and say, “I’m the answer you’ve been looking for!” The truth is, these alluring diets and gizmos may help or hurt. If they help, then I consider them for inclusion in my undiagnosed and rare disease toolkit. To be clear, I’m not an expert. However, like many patients, I’ve become an expert on myself and what helps me get through the day. But only you and your medical team know what’s best for you.

Discovering Your Tools

It has taken nearly 40 years to discover that there is no silver bullet for my health conditions. In the last few years, I’ve had to roll up my sleeves and put together my own Batman style utility kit of physical, emotional, and intellectual tools to help me navigate my ever-changing world. I look at everything as a potential tool: my mobile phone as a digital recorder and personal assistant, a gluten-free diet for my many gastrointestinal issues, compression clothing and mobility aids to help when I’m in pain or not getting around well. There is a lot out there and it takes some time to identify what works and what doesn’t.

Sequencing as a Tool

While looking for more tools to help lead me to a more definitive diagnosis, I came across whole genome sequencing (WGS), the process of sequencing your entire genome – nearly 100% of your DNA. You’ve probably heard about direct to consumer DNA testing companies that offer loads of information like your ancestry, health and wellness information, drug interactions and more. This can be some great information not only for undiagnosed and rare patients, but for anyone who wants to more accurately target their health concerns. Personally, after doing my own research on consumer testing, I chose a company who offered more personalized reports. I opted to have my whole genome sequenced rather than just my exome, about 1.5% of human DNA, because I wanted to have all the information. The WGS was about three times the cost of the popular DNA kits available that provide the basic information I just mentioned, but the difference was the targeted rare disease report that would come with my raw WGS data.

The Reports Weren’t as Helpful as I’d Hoped

While that all sounds great, what I learned is there are differences between the many consumer test options out there, more than just the price tag. For instance, some look specifically for more common conditions and give you some basic risk factors or health data, which is great, but I would not expect these reports to be massively helpful to most undiagnosed and rare disease patients. To be honest, many of us have learned the hard way what diets or medications just don’t work for us. Other more expensive tests boast a variety of reports that could hold valuable and actionable information, but I found that even these personalized reports were not much more helpful to me.

The Truth is, There’s a Lot We Don’t Know

“That’s great but why pay a few hundred dollars if the reports aren’t going to unlock all the mysteries or give me a definitive diagnosis?”

Good question. The truth is, it’s not. At least not yet.

A report can only tell you information like what genes you have and if there is any clinical support at all for what those genes do. These reports can’t tell you if you are the carrier of a gene or if the gene is actively causing your disease. Some genes cause disease, but we know so little and can only make educated guesses in many cases. If you’re considering sequencing, have realistic expectations about what the results could mean for you and your personal toolkit.

Raw Data Led Me to “Aha” Moments

In my case, I found that it was not the reports that gave me the most information, it was the raw data. A savvy patient will realize quickly that there are platforms available where you can upload your raw data file and run your own reports, filtering by the factors that are most relevant to you. I found, at least in my case, that I was able to match up some of my diagnoses with data found in my genome. I was able to identify some potential risks that matched up with my family history of leukemia, and I had lots of “aha” moments looking at some descriptions of genes with studies behind them that could explain a lot – but it doesn’t live up to its full potential without specialists or a genetic counselor. These professionals can help you use your WGS goldmine for good, and in a responsible manner.

I Want More People to Get Sequenced

Why? Because patients — both now and in the future — need you!

When families can access advanced genetic tests either privately or through their clinical care team, they often find they have a gene of unknown significance. Lots of families with affected kids are desperate for people like you and me to come forward and contribute our data for research. And, that’s exactly what I did this week – I joined the MyGene2 registry and shared not only my WGS raw data, but also the genes that stood out in reports as being potentially disease-causing.

We only understand what some gene variants do and how they cause disease or influence our health. We won’t know more if people don’t take a leap of faith and say, “Count me in!” and not only get sequenced, but contribute their data to research databases. With that access, researchers worldwide can start telling us in the years to come what these genes mean to us and we can start seeing really specifically targeted treatments.

Consider the Implications Carefully Before You Decide

Sure, there are implications like discovering whether you may or may not have a certain deadly disease. It’s important to know yourself and know if the results would cause you to stalk Dr. Google for answers, or if you would be likely to share your results with a professional who can help you integrate this tool into your life. If you think you can make that leap of faith, whatever the outcome, I would ask you to consider contributing your raw data to research. And it’s another potentially helpful tool in your chronic illness utility belt — and who couldn’t use one more?