"Awareness is key": How genetic testing for cancer risk changed Scarlett’s life for the better

Scarlett’s (they/them) path to advocacy is rooted in their family’s health history and their own health experiences, both of which came into focus thanks to genetic testing. Now a published author pursuing a master's degree in public health, Scarlett studies how different communication strategies can help patients overcome healthcare barriers.  

Scarlett’s academic pursuits and advocacy were inspired by a major point in their life when the results of a genetic test spurred them to protect their health with preventive care. To overcome barriers to accessing that care, they had to learn a crucial skill: how to advocate for themselves. 

Understanding a family’s health history and cancer risk

Scarlett’s dad was in his early thirties when he received his diagnosis of bladder cancer. But it wasn’t until he was diagnosed with colon cancer at age 40 that doctors suggested getting tested to see if a genetic variant could be contributing to his illnesses.  

Sure enough, his test came back positive for a variant in his MSH2 gene, which is linked to Lynch syndrome.  

~1 in every 279 people in the United States have a genetic variant linked to Lynch syndrome¹

Lynch syndrome increases a person’s risk of developing cancer, particularly colon and endometrial cancers (cancers that develop in the lining of the uterus), along with others like bladder cancer. This condition occurs when a variant in a gene like MSH2 causes a person’s DNA mismatch repair gene (also called MMR) to lack information to rid the body of damaged cells. Instead, the cells can build up in tissues, and this buildup may cause cancer.1

Lynch syndrome is inheritable, which meant that Scarlett had a 50/50 chance of also having the gene variant associated with the condition.

Their family was far from alone in this way. In the United States, about 1 in every 279 people has a genetic variant linked to Lynch syndrome.¹

The possibility of inheriting the MSH2 variant worried Scarlett, which made taking a genetic test difficult. They decided to put it off.  

Protecting their health despite cancer screening hurdles  

But then, in 2022, it was time. Fortunately, they had the opportunity to go through their genetic testing journey with the same genetic counselor who helped their father. “That meeting was hard for me because I knew it was a serious thing,” Scarlett said, “but my genetic counselor was really skilled and patient.”  

Scarlett’s genetic counselor helped them understand the genetic testing process from start to finish, explained complex genetic concepts, and made sure to understand Scarlett’s social and emotional needs. When the test came back positive for the same MSH2 gene variant linked to Lynch syndrome, the genetic counselor helped Scarlett process the news and understand their options.  

Until Scarlett met with the genetic counselor, they didn’t know much about the more intensive screening regimen that they would have to be on to protect their health. "I’m gender diverse and on the [autism] spectrum, so I faced unique challenges,” Scarlett said.  

For example, learning about preventive measures like uterine cancer screenings triggered dysphoria for Scarlett, meaning the distress a person can feel when the gender they identify with and the one they were assigned at birth don’t match.  

The invasive nature of some of the tests, like colonoscopies (an exam of the inside of the large intestine), caused distress, too. “I had a fear of being forced to eat or drink things that taste bad,” they said, which made colonoscopy prep, where the patient drinks large amounts of liquid laxatives, even more difficult than it already can be.  

Learning to cope with the reality of cancer screenings

But Scarlett had learned how important these procedures were for detecting cancer early. To find ways to make the screenings easier, they took note of what kind of medical language deepened their fears and what helped them follow through with procedures. They found an alternative colonoscopy prep they could manage.

They also figured they weren’t the only person to face these challenges. After finding useful ways to cope, they wrote and self-published a zine that could help others undergo colonoscopies with more confidence.

“There are so many medical procedures that are uniquely invasive and stressful for neurodiverse people,” Scarlett said, referring to the spectrum of talents, abilities, and struggles that people whose brains work in non-typical ways may experience. “Instructions written in all caps that are bolded and underlined can increase anxiety, like YOU MUST FINISH ALL PREP.”

Their experiences with health screenings, insight into communication styles, and newfound self-advocacy skills inspired them to apply to the public health master's program at Boston University (BU) in health campaign marketing.  
Sadly, right before they were accepted to BU, Scarlett’s dad passed away from stomach cancer. "One of the last things my dad helped me with was that he paid some of the application fees from his hospital bed. He believed in me, and it meant a lot.”  

Moving from fear to understanding about cancer risk

When Scarlett first received a Lynch syndrome diagnosis, they wanted to get cancer screenings often. “There was an aspect of fear to my decisions,” they said. “I wanted to get a hysterectomy (a surgery to remove the uterus) as soon as possible.”  

As they learned more about their condition and received more advice from their healthcare providers, they began to learn how to balance prevention with an honest judgment of how much preventive care they’re truly ready to do, and when they should do it.

“Getting a hysterectomy is a major surgery with a big recovery time. I would be relying on other people. Is that something I want right now?” Scarlett asked themselves. “I don’t really know. And right now, I’m not in a rush. One of the other things I realized from my diagnosis is I have time to make informed decisions, learn what’s important to me, and what I need to do when.”

“There’s this thing in public health called secondary and primary prevention,” Scarlett said. “Secondary prevention is like getting screened and tested and getting a yearly colonoscopy. Primary prevention is making sure that I’m moving around, going outside, and eating a balanced diet. People might underestimate the importance of those primary measures, but they're something in my control. That’s why I consider them part of my healthcare.” 

How genetic testing helped Scarlett take control of their health

Scarlett’s life changed a lot when they received their genetic test results. According to Scarlett, “My diagnosis put my life into perspective. It made me a less emotionally reactive person.  It helped me realize I'm happy that I’m alive, and I have so much more to do.”

“It’s cheesy to say, but awareness is key,” Scarlett said. “I’m grateful I found out now rather than the way my dad found out, during his second time having cancer. Genetic testing was the first step to taking my health into my own hands.”  

Learn how to take your health into your own hands with genetic testing.