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Tuya Pal helps families solve genetic puzzles

November 22, 2017 | Dagny Stuart

Photo by Anne Rayner

Tuya Pal, M.D., has spent much of her life trying to unravel scientific mysteries. As a little girl she was already learning, competing and moving fast. The child of first-generation immigrants who moved from India to Canada where her father earned a scholarship to study engineering, Pal was a competitive swimmer who also loved to read. But her future career path was set in a high school science class when she saw illustrations about “how traits are inherited from each side of the family and result in a specific outcome.”  

Fascinated by the concept of genetic inheritance, she decided to pursue that passion in medical school at McGill University in Montreal. She completed a residency in pediatrics at Washington University in St. Louis, Missouri, followed by a fellowship in clinical genetics at the Hospital for Sick Children at the University of Toronto. During her fellowship, she focused on clinical cancer genetics.  

Now, a renowned clinical geneticist with nearly 20 years of experience, Pal has joined Vanderbilt-Ingram Cancer Center (VICC) as associate director of Cancer Health Disparities. A member of the faculty in the Vanderbilt Hereditary Cancer Clinic, Pal is focused on clinical and research efforts to make the latest tests and treatments for cancer including genetic tests for cancer risk more available across the entire population. Her research is supported in part by the Marjorie A. Neuhoff Private Foundation. 

Prior to her new role at VICC, Pal was an associate member at the Moffitt Cancer Center and Research Institute in Tampa, Florida, as well as an associate professor of Medicine at the University of South Florida.  

 

Person to person 

“I loved the patient care aspect of medicine, the personal interactions and the opportunity to make a difference at a human level,” said Pal, who also has been named an associate professor of Medicine at Vanderbilt University Medical Center (VUMC) and Ingram Associate Professor of Cancer Research.  

“If you’re going to have personal interactions with patients, you can never guarantee that their outcome is going to be good, but I don’t think that diminishes your ability to make a difference. In genetics it’s even broader than that because, while we work with individual patients, we can also make a difference for family members, which can magnify our impact. When it comes to genetics, the family rather than the patient is our unit of care.”  

After years of helping cancer patients in Florida, she was excited about the opportunity to join VICC’s Clinical and Translational Hereditary Cancer Program led by director Georgia Wiesner, M.D., M.S., Ingram Professor of Cancer Research. 

“Our service represents unique expertise in the region in the realm of inherited cancer predisposition,” Pal said. “I can’t think of another program in the country with two clinical geneticists who have focused their entire careers on inherited cancer predisposition. The other thing that makes our practice unique is that we have two nurse practitioners who are trained as genetics professionals.” 

The clinic also includes a team of genetic counselors who help patients determine if genetic testing might be appropriate depending on a family’s cancer history.  

For generations, members of families with a strong history of cancer worried about their risk but they had no way to know which family members would be diagnosed with the disease and which relatives would be spared. And it wasn’t just one type of cancer that seemed to haunt some families. There could be breast and ovarian cancers on one family tree, or many seemingly unrelated cancers affecting members of other families.  

To Pal and her colleagues, these familial clusters and patterns are like a puzzle and often can imply a genetic predisposition to disease.   

 

Genetic mysteries 

In the past few decades, scientists have finally identified specific inherited genes tied directly to various forms of cancer. Genes known as BRCA1 or BRCA2 can cause ovarian cancer in women and breast cancer among both women and men. Men and women can pass on the BRCA genes to their offspring. 

Other than the BRCA genes, the most frequent form of inherited colorectal cancer is due to the genes that cause hereditary nonpolyposis colorectal cancer (HNPCC), also known as Lynch syndrome. In addition to cancers of the colon and rectum, these genes can cause cancers of the small bowel, renal pelvis and ureter, pancreas and brain, among others. In women, they can also cause ovarian and endometrial (lining of the uterus) cancer. 

Pal said these findings explain why some families seem to be plagued by a certain pattern of cancers. 

“We have identified most of the inherited cancer genes that account for the major proportions of inherited cancer risk. I think there are still rarer genes that we have yet to identify.” 

 

Haves and have-nots 

Unfortunately, not everyone is getting the same access to genetic testing or to follow-up care when they test positive for inherited cancer genes. Many studies have shown that compared to non-Hispanic whites, fewer blacks and Hispanics are aware of genetic testing and are offered this testing by their health care providers, according to Pal. She said there was an assumption blacks might not want the tests.  

“That has not been our experience. I think they’re less often offered the genetic testing. When we did our statewide study in Florida offering young black women with breast cancer genetic counseling and testing, the vast majority took us up on it. Then we offered to give them their results, and more than 90 percent took us up on that offer, which tells you it wasn’t just about the testing. They wanted to know what was found from that testing so that tells me they are interested when it’s offered and it’s offered in a way that is convenient for them to access it without cost.” 

During her time at Moffitt Cancer Center, Pal launched a free inherited cancer registry, called ICARE, for individuals interested in participating in studies about inherited cancer.  

The ICARE registry is a questionnaire-based research study open to men and women age 18 and older who have a personal or family history of cancer. The goal is to maintain a registry of individuals interested in participating in inherited cancer research studies. Pal now runs the registry from VICC, available at www.inheritedcancer.net. 

Pal started the registry approximately seven years ago to partner with other health care providers who perform genetic testing for inherited cancers. As part of this effort, she develops a newsletter (freely available online and in print) every six months. The newsletter updates both participants and providers about clinical and research advances in the filed of inherited cancer predisposition. ICARE also hosts web-based case conferences for providers as a forum to broadly share expertise and discuss interesting and challenging cases. 

“We have made a concerted effort to not just have people give us their data without any sort of engagement,” she said. “I think that’s what is unique about our program.” 

Since the registry was launched, more than 2,000 participants have been recruited, including more than 1,000 individuals with BRCA mutations. 

Pal said when thinking about inherited genetic risk for cancer it’s not the testing itself that makes a difference. Rather, it’s what high-risk patients do with the results of the testing to be proactive with their health that can prevent cancer from developing.  Women with inherited BRCA genes may choose to have both breasts removed or have their ovaries and fallopian tubes removed to reduce the risk of cancer development. They may also choose enhanced screening measures through frequent breast MRIs to detect cancers early. 

“If patients know their options and choose not to pursue certain cancer prevention or early detection options, that’s OK. But if patients in these racial or ethnic groups are not even getting the information to make an informed decision then we need to do better,” Pal said.  

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