My In Our DNA SC experience

What’s that I hear? The opportunity to get in on another new and interesting MUSC partnership? I’m intrigued! Catalyst News readers who’ve been around for a bit might remember my participation in the AstraZeneca COVID-19 vaccine trial at the end of 2020 and beginning of 2021. Now, I’m back in action to share about my experiences with you about another MUSC research project, In Our DNA SC.

If you haven’t heard, MUSC announced a strategic collaboration with Helix, a population genomics company, in September of 2021 to develop a first-of-its-kind initiative in South Carolina called In Our DNA SC. My interest in this program was first piqued when I learned that I could receive information about health conditions that I might be prone to. I knew some of the medical conditions that had frequently appeared in my family tree in recent generations but I wanted to have as much information as possible, so I could take preventive steps. When I heard that I could also receive ancestry information, my interest rose. Nerd alert – I’m a sucker for any chance to deep dive into my family’s history and heritage. And when I read about how these two features could be combined to excuse, I mean, explain things like my dependence on caffeine, I was pretty sold.

Demystifying my own hesitations

I will admit, though, to having had some reservations. I didn’t know about Helix prior to this partnership, so while I trust MUSC with sensitive data, I was still a little hesitant. Secondly, I’ve always been a rule follower, so while I wasn’t concerned about my genetic material somehow incriminating me, I had to consider whether I really wanted it stored “out there.” My final concern was also one of the reasons I wanted to participate. Did I really want to know the information these tests could provide? What if I were to learn that I’m predisposed to something scary and needed to make tough choices? How would I react to such news if it wasn’t something I could control or prepare for?

The first hesitation was the easiest to address. I spent time learning about Helix, reading information about its partnership with MUSC and reviewing the waivers and agreements that participants sign to provide consent for research participation. Feeling better on that front, I contemplated the storing of my genetic code. Maybe this was an oversimplification, but I decided that as someone who has a smart phone and social media profiles, shops online, pays taxes and had to turn over a ton of documents to buy a house, I’m already pretty trackable by the proverbial “them.” 

My final concern called for more serious thought. On one hand, living with the unknown is part of being a human. However, it drives me bananas because my nature is such that if there’s something to be prepared for, this girl has done her research and established a plan. However, I’ve also never been confronted with serious medical issues of my own, only those faced by family members and friends. And while some of their journeys have been difficult to witness, since it wasn’t my body, the situations are not really comparable. Adding onto that was the lack of experience: what do I do if it was something that I couldn’t really prepare for? Sure, I’d be on higher alert, but sometimes things can’t be avoided merely with lifestyle changes. Or, what if it was something that could only be avoided through more serious measures? Would I be ready to make significant life changes today to try to help future me?

I sat with these questions for a while. Eventually, though, I reached my decision. I would rather take advantage of scientific advances and know what was potentially coming my way than not. 

And so, I went to In Our DNA SC and clicked the blue button to sign up.

How it worked

Signing up was easy. A window opened for MyChart; I logged in – though I could have also created a MyChart account easily if I hadn’t already had one – and was taken through the lengthy consent forms. Normally, I gloss over the consent forms but given my previous hesitations, I did pay closer attention to these. They were consistent with what I previously read, so I felt okay about proceeding and, honestly, it gave me more reassurance about the record keeping and use of my sample. After completing the forms, I selected a date and location to provide my specimen collection. 

I opted to participate in an on-campus event rather than waiting for my next primary care appointment. When it was time, I headed over to the tent where helpful employees explained the process. They gave me a tube to fill with saliva and showed me the line to reach. The pre-appointment instructions included a note not to eat or drink within 30 minutes of the appointment, though I quickly realized it had been a little longer than that since I’d had water. So much for reaching the line being easy peasy!

 

Soon, my specimen tube held its requisite sample, and I turned it in. As they labeled my tube and bag with my patient-ID information, they explained that I would soon receive an email from Helix prompting me to create an optional Helix account to link my profile with my sample. They shared that in a few weeks, I would receive an email alerting me that the results were ready. I was also reminded that as science and tools advanced, Helix would continue updating my profile with new information, but that I was able to withdraw from participating at any time. Armed with this information, I set off to wait.

One week later, I received an email confirming that my sample had been received by Helix. That message contained instructions about next steps and what to expect. It said that within eight weeks, my Helix traits and Helix ancestry results would be ready.

My ancestry and traits results

Three weeks later, I received an email saying that my DNA sequencing was complete, and those reports were available. It also noted that my Helix health results would be ready within two months.

So, on a quiet evening with plenty of time to dive in, I logged into my Helix account via MyChart. It took me through some information reviews and another consent, this time specifically for the ancestry and traits components, followed by Platform 101, a module that explained how results are used, what I can do and, of course, risks and limitations. 

I arrived at a landing page with three modules to choose from, corresponding with the three types of results – health, traits and ancestry. Since the health one wasn’t ready yet, I started with traits. As I scrolled through, I let out an audible “whoa!” 

Some things were spot on, and I was amazed that they were associated with genetics, like being likely to move more during sleep (accurate), being more likely to burn with sun exposure than to tan (my devotion to aloe vera can attest to this), not becoming flushed when consuming alcohol and being better at sprint bursts than endurance activities. There were a few things that didn’t line up, like an aversion to cilantro, or weren’t surprises, since I could see them in myself and family, like eye color and hair curl. The results also stated that I have an average caffeine metabolizer, meaning caffeine and its effects are likely to last longer in me than in others. Given my unwavering devotion to multiple cups of coffee each day, this is one result that I plan to forget I read.

Most interesting, though, were the things that I already knew about myself but wanted, as a result, to examine through a new lens. For example, the results indicated that I’d go to sleep at a typical time and sleep for a bit longer than the average person. This is interesting because since I was a child, I’ve known that I needed a good amount of sleep to function. Nonetheless, for many years, I’ve struggled with falling and staying asleep. Some of my family members also experience this, so I thought it might be genetic, especially because these episodes don’t necessarily correlate with stressful seasons. I found myself quite curious to think more about the causes of these sleep issues.

Moving over to the ancestry panel was exciting. We’ve previously traced portions of my family lineage back to Scotland, England and Germany, but the tracing has been pretty limited and unreliable. Once again, the panel was different and more intriguing than what I had anticipated. 

First, there were five categories that explained things that I am more or less adaptive to. My genes indicated a “negative” adaptation to high altitudes and malaria. I was marked “adaptive” for lactose tolerance, which isn’t a surprise given my love of dairy. I was very surprised that my genes indicated Arctic adaptation, especially since I’m known for getting cold so easily. That officemate running her heater all summer? That would be this girl. Needless to say, the friends and family members that I shared that news with had a good laugh.

The last thing I checked out in that section was my regional ancestry. As expected, 98% is European, with the vast majority indicating northwestern Europe. Further down, it was clarified that this comprised the British Isles, Scandinavia and the central part of northern Europe. I wished it had been a little more specific, but I also got that that’s a bit of challenge, due to how empires and boundary lines have shifted over the centuries.

There were two surprises in this section. First, I was quite surprised to see 1.2% of my genes indicated that I have South Asian roots, specifically Punjabi and Panthan (Pashtun). The information explained that this region covers modern-day Pakistan, northern India, and Afghanistan. The second surprise was seeing 0.8% related to Sub-Saharan Africa, split evenly between East Bantu and Senegambian heritages. The information provided identified these as very ancient regions that have been around for thousands of years. I don’t know enough about genetics and to have a grasp on how recently these traits would have been introduced to my lineage, registering at such small percentages. With this information I would take the opportunity to conduct more research into my family history.

My health results

A few days later, I received the notification that my health results were ready. I immediately felt a wave of relief as I read the first line: “No DNA variants identified.” The next part explained that while the test didn’t identify DNA variants that increased my risk for the three conditions that this test looks for, it didn’t mean that I was totally in the clear. I appreciated that the results explained the fact that genetics were just one aspect to be considered, but that other factors could still increase risks of cancer or heart disease; for example, family history can’t be ignored.

Moving down the page, I first saw my results for hereditary breast and ovarian cancer and the two genes Helix tested for this. Being that several women on my mom’s side had breast cancer, including my maternal grandmother, my mom had done the BRCA testing several years ago. Since hers was negative, I expected the same result but was still a little nervous. Needless to say, I was very relieved to see that result. 

Next was Lynch syndrome, an inherited condition that increases the risk of colon, endometrial and several other cancers. Helix analyzes five genes for this condition. I hadn’t known any family members to have had these cancers, so it was not a high concern but, still, it was helpful information to have.

The final test was familial hypercholesterolemia (FH), a heritable condition that causes chronically high blood cholesterol levels and heart disease. Four genes were tested for FH. This one was the wild card that I was worried about, with several family members on both sides with high cholesterol and/or blood pressure and a variety of heart conditions. I’ve always assumed that there’s a combination of lifestyle and inherited traits involved, given that some folks eat pretty healthy, or are fairly active, while others are less so. I’ll still be keeping an eye on this, but it’s nice to rule out one factor.

Focusing on my health

So, to summarize my experience, I’m glad that I participated in In Our DNA SC. I’ve learned some fun things, and the health information was reassuring. I’m also looking forward to continuing to participate over the long run as Helix adds more tests and is able to analyze my sample for more genetic conditions. While my results were clear for the three areas tested, I’m not taking this as a free pass and will continue making preventive lifestyle decisions and getting all the recommended screenings.

Note from In Our DNA SC

Genetic or DNA trait results are based on the likelihood of a trait, not certainty. When a given trait is reported, it is a probability or likelihood that a person will express the trait in question. This is based on several genetic markers that have been associated with that trait but not a certainty. For example, there may be a 90% (9 out of 10) chance that a person with the “curly hair” result does indeed have curly hair, but that means that there is also a 10%  chance they do not – in other words, 1 in 10 people with the “curly hair” result actually may not have curly hair. This is how DNA traits tend to work. In addition, other factors may affect if you express a trait like environmental exposure or factors or other genetic interactions.

Unlike traits or ancestry testing where we're trying to describe patterns as best we can, when assessing a person's risk for a health condition, we're answering a yes or no question: Are the DNA changes associated with the condition present or not?

To learn more about participating in In Our DNA SC and/or to share your story, please visit In Our DNA SC.