The engaging smile and clear, blue eyes of Megan Vess belie that her health has ever been in jeopardy. A plastic hospital bracelet offers the only clue—hinting at Megan’s cancer battle and her underlying genetic condition.
Upon receiving a cancer diagnosis in 2012, Megan and her mom had two hours to toss their belongings into suitcases and rush to the airport. At St. Jude Children’s Research Hospital, the 10-year-old immediately began treatment for acute lymphoblastic leukemia.
Genetic evaluation, counseling and testing revealed that an extremely rare genetic condition had made Megan vulnerable to getting this cancer.
Thanks to Megan’s genetic counselor at St. Jude, she and her family now have a better understanding of how the condition affects her health and her future. A new medical service—the St. Jude Cancer Predisposition Program—has been created for children like Megan, who may have inherited genetic mutations that increase their cancer risk.
“This gene mutation also puts Megan at a higher risk of getting other kinds of cancers,” explains her mom, Amber Vess. “We now understand that she needs screenings and tests to make sure that if she gets another kind of cancer we can find it early.”
Kids at risk
Headed by pediatric oncologist Kim Nichols, MD, the Cancer Predisposition Program evaluates children who have hereditary forms of cancer. The staff also sees kids who do not have cancer but have genetic conditions or family histories that put them at increased risk for developing it.
Expansion of the program originated with the St. Jude – Washington University Pediatric Cancer Genome Project, an unprecedented effort to sequence the normal and cancer genomes of 700 children with cancer. Now scientists and clinicians at St. Jude are teaming up to apply that information to the clinic.
“By identifying rare cancer-predisposing genes, we can learn a lot about why tumors form and how to better treat them,” Nichols says.
Eventually, all cancer patients who come through the doors of St. Jude will have the opportunity to have their genomes sequenced.
“It’s estimated that 5 to 10 percent of children with cancer have the disease because they carry a predisposing gene mutation,” Nichols explains. “That percentage may be even higher, because some children carry mutations in genes that have not yet been identified. The only way to learn about these possibilities is by looking at the entire genome of an individual. That’s why the clinical genomics effort is important.
“Identification of these mutations helps the family better understand why their child developed cancer,” Nichols continues. “It also can have an important impact on how you might treat that patient, and it has implications in future reproductive questions and the health of other family members.”
Examining the family tree
The Cancer Predisposition Program focuses on the whole family, working with patients, siblings and parents.
Licensed certified genetic counselors Emily Quinn and Rose McGee encourage families to find out as much as they can about their medical history, paying particular attention to family members who have had cancer. From studying the family tree and the child’s medical information, the counselors determine if any family members, including future children, might have a higher-than-normal likelihood of developing cancer.
“It’s sort of like an onion,” McGee says. “The child’s at the center, and then you move out to the different layers of the family. First you address the people surrounding the child, and then you move out to the wider family.”
The counselors educate the families. If genetic testing is needed, the staff and families discuss the risks, benefits and limitations of those tests. When a genetic diagnosis is made, the clinic staff helps families obtain appropriate medical care as well as mental, emotional, social and spiritual support.
“I feel privileged to be able to empower families with knowledge to make informed decisions about whether or not they want to do genetic testing and then—if there’s a positive test result—help them to make decisions about their health,” Quinn says. “It’s an honor to be able to help families process that information and connect them with the appropriate resources.”
Making important decisions
Sometimes, genetic findings affect family planning. Megan Vess’ mom says McGee gave her the information she and her husband needed to make important decisions.
“We were thinking about having another biological child after Megan got off treatment,” Amber says. “Then, Rose explained that the probability of another child getting this gene mutation would be the same risk that Megan had. It helped us to decide that we wouldn’t want to take that chance.”
The couple has a large and loving family that includes three adopted children.
Megan’s genetic mutation means she is susceptible to having other cancers, as well as passing one of her mutated genes on to any future children. At St. Jude, she has learned about specific cancer screening tests she should have and lifestyle choices she can make to reduce her cancer risk.
Suggested testing includes regular screenings of her digestive tract, brain MRI, blood work, and, when she is older, gynecologic screenings. Megan was relieved to hear she can get many of the tests done at St. Jude.
“St. Jude is Megan’s comfort zone, and to know the screenings could be done there made it so much better,” Amber says.
The Cancer Predisposition Program, like all facets of St. Jude, addresses the child’s overall health and well- being. Staff members walk families through the process of genetic counseling and testing, offering access to appropriate psychological or child life services, when necessary.
Nichols’ vision is to develop a world-class program at St. Jude. To do that, she plans to expand the team, adding more physicians, counselors, a nurse practitioner and research study staff. Soon, every new St. Jude cancer patient will be offered genetic evaluation and the ability to enroll in clinical trials focused on cancer predisposition.
The pioneering expertise and technology built by the Pediatric Cancer Genome Project make St. Jude the perfect place to launch such a program.
“St. Jude is the only pediatric oncology facility doing this type of analysis to look at the genetic make-up of tumor and normal cells,” Nichols says. “Genetic technologies are advancing quickly. We’re in an excellent position because we do it better than most other places. We have not done it on a clinical scale before, and it’s time. It’s the way things will be done in the future.”
This personalized approach to cancer treatment allows clinicians to modify treatment based on the genetic make-up of the tumor.
“Therapy can be intensified for those who need it and de-intensified for those who don’t,” Nichols says.
A whole new world
Through the Cancer Predisposition Program, Nichols says, the hospital will receive national recognition for excellence in information, patient management and research participation.
She says her dream is to answer many unanswered questions, such as: Why do some children get cancer and others don’t? What can be done with genetic information to improve cancer treatment or even prevent it from forming?
While curing all childhood cancers is a laudable goal, preventing them from ever occurring would be even better.
“We have a long way to go, but we have come quite a long way already,” she says. “The first cancer-predisposing genes were discovered in the 1980s and 90s. It hasn’t been that long ago, and look how far we’ve come. There are now more than 100 such genes that are known.
“I’m confident that in another 50 years, it will be a whole new world.”
Abridged from Promise, Spring 2015