Ignite-TX Study: Shedding Light on Genetic Testing for Colorectal Cancer Risk
Written by Karin Vallega, PhD
By the time she was seven years old, Alexa Kanbergs, MD-ScM, MS, knew she wanted to be a doctor. But the now young doctor, who finds the field of women’s health fascinating, could have never anticipated the great need for her knowledge and training in the face of rising cancer rates among people of her own generation.
“There are so many opportunities to make an impact in the field of women’s health, and women’s cancer is a field unlike any other, where you have such a continuity of care,” said Kanbergs, who is a Gynecologic Oncology Fellow at the MD Anderson Cancer Center.
It allows her to foster close relationships with her patients. “We do both the chemotherapy and the surgical treatment for our patients. So, you meet a patient, you do their surgery and then you treat them with their chemo and so you may have a relationship for decades.”
Now, as a fellow, Kanbergs is exploring how cutting-edge research can make a difference in the type of care she and her colleagues can offer their patients.
She is working closely with Jose Alejandro Rauh-Hain, MD, MPH, on an area of science known as cascade testing, which is when an individual with an inherited genetic mutation or condition informs their family so they can get tested too. This allows individuals who have a higher risk of certain diseases to get testing like colonoscopies, which can help them take steps to prevent disease or treat it early.
As part of their research, they have launched the Ignite-TX study, which is aimed at increasing cascade testing for colon, breast, ovarian, and other cancers. The hope is to shine a light on the value of genetic testing in cancer’s early detection, diagnosis, and treatment.
The Ignite-TX Study
Purpose of the study
The purpose of the Ignite-TX study is to advance genetic testing in families with Hereditary Breast and Ovarian Cancer (HBOC) syndrome and Lynch syndrome, which greatly increases the chance of developing colorectal cancer. Because the gene mutations that cause these conditions can be inherited, family members of diagnosed patients are encouraged to get genetic testing. However, currently less than 50% of this high-risk population takes part in cascade testing.
This study aims to increase support for these families and improve cascade testing rates, and therefore hopefully reduce cancer mortality rates.
You may be eligible to enroll in this study if:
You have been diagnosed with an inherited cancer syndrome, such as Lynch syndrome or HBOC, and have at least one family member who has not had genetic testing.
You have a first-degree relative (parent, sibling or child) who has been diagnosed with an inherited cancer syndrome.
Participants enrolled in the study will be randomly assigned to one of four groups:
Group one will receive the current normal standard of care. They will receive a letter to help them talk to their family about their diagnosis and cascade testing.
Group two will receive free genetic testing for first or second degree family members.
Group three will receive access to educational models to learn about their genetic risk, how to share information with family, and more.
Group four will have both the free genetic testing and access to the educational modules.
Involvement of the Colon Cancer Foundation
Our YMyHealth partner, The Colon Cancer Foundation is participating in this study to increase cascade testing for Lynch Syndrome, which increases the risk of developing many types of cancer, including colorectal, endometrial, ovarian, brain, and others.
It can also cause these cancers to develop much earlier in life. People with Lynch syndrome can develop colorectal cancer as early as in their 20s.
Alexa Kanbergs, MD-ScM, MS, is board-certified OBGYN, who is currently in her Gynecologic Oncology Fellowship Training Program at the MD Anderson Cancer Center.
After finishing medical school at Brown University, Kanbergs did her residency in obstetrics and gynecology at Massachusetts General at Harvard Medical School.
Importance of genetic testing
There are many benefits to genetic testing for high-risk populations.
“The most important aspect of genetic testing is having the ability to make choices and informed decisions about your health,” Kanbergs said. “The hardest thing to watch is when you have someone come in who is 32 years old and has ovarian cancer and finds out they had a BRCA mutation, and didn’t know or wasn’t aware that they could have been tested.“
“When there’s a family history of it, but they didn’t recognize that and it’s just really hard to see that because we can do a lot of things to help reduce the risk, or sometimes even prevent cancer.”
When people participate in cascade testing, they learn about their own individual cancer risk. And this can help them make lifestyle changes to reduce their risk of cancer. It can also inform their doctors to do cancer screenings more frequently, or earlier than usually suggested, which can help detect cancers sooner when they are easier to treat. Notably, early detection improves the prognosis for many cancers.
Information on specific gene mutations is also helpful for doctors to tailor treatment for their patients.
For some people, knowing their gene mutation status is important when considering their reproductive choices. The knowledge gives them the opportunity to use assisted reproductive technologies, if they do not wish to pass on certain mutations to their children.
Measured Outcomes
The main point of the study is to see which support systems work best to increase rates of genetic testing.
Currently, less than 50% of people who can benefit from cascade testing actually get tested. And those rates may be even lower in medically underserved populations.
“Patients who traditionally have access to the education or the resources to get tested often do, whereas, patients who are from medically underserved backgrounds don't. And so the goal is to try and figure out a way to increase testing within those families,” Kanbergs explained.
“You know, it may put us out of a job when we are able to test everyone and not develop these cancers. But that's the goal, right? We will test as many people as possible and then help implement the screening practices or risk reducing surgeries that help prevent the cancer in those patients.”
Addressing Hesitancy
Millennials may think they are too young to be worrying about cancer. For others, the idea of genetic testing can cause anxiety. But Kanbergs believes genetic testing can be very beneficial.
“From an oncologist standpoint, from someone who sees people who are very young with cancer, you can't put a price on having information to make informed decisions,” she said. “I think the most important thing, especially for millennials, is that cancer is occurring earlier and earlier, especially when you have a familial mutation, you're at high risk, even at a young age.
She pointed out that there’s no perfect screening test for ovarian cancer, but there are certainly interventions that she and her colleagues can do to help reduce your risk of cancer once you're done with childbearing. Plus, there are wonderful things like colonoscopies and mammograms that can help reduce your risk of breast cancer and colon cancer.
“So I would say, as frightening as it can be sometimes to have that information, I think, in the long term, it's very empowering for individuals and it can save your life,” she said.
Dr. Kanbergs promoting the Ignite-TX study at a conference in Houston in March 2024.
Challenges
When asked about what are the challenges facing the Ignite-TX study, Kanbergs spoke about getting enough participants. “I think that the most logistical challenge is, you have a great study, but how do you actually get it in front of patients so that they can see it and enroll?” she said. “It's always hard to reach patients and particularly medically underserved patients.”
Conclusion
Overall, the Ignite-TX study is a wonderful effort to increase cascade testing, which can be pivotal in decreasing cancer rates and improving cancer prognosis.
“I think this study is a great opportunity to figure out how to talk to family members about topics that can be tough. It's a great opportunity to potentially get free genetic testing for family members,” Kanbergs said. “I think deep down we all want to make a better world, right? And being involved in clinical research studies is a really important thing and really helpful for the future.”
If you would like to learn more about the Ignite-TX study, you can visit the web page here.
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