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Dr. Amy Trottier: Understanding and answering why some people get blood cancers

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Woman in a white lab coat in a research lab holding a syringe and about to place a sample in a collection tray.

Dr. Amy Trottier’s first love was not medicine. From the time she was seven, she had her sights set on becoming an Olympic hockey player. Thankfully, for her patients, this didn’t work out. An interest in science, research and numbers led her to study medicine at Dalhousie University and then specialize in internal medicine and hematology at the University of Calgary. Following a research fellowship to understand inherited predisposition to blood cancers at the University of Chicago, it was time to return home.

Amy moved back to Halifax in January 2020 to do a locum and joined Nova Scotia Health and Dalhousie University in April of that year – just as COVID began to impact Nova Scotia and the rest of the world.

“My goal, in addition to providing direct patient care, was to establish a cancer risk clinic for people with blood cancers such as leukemia, lymphoma and multiple myeloma,” she says.

“I want to be able to answer ‘the why’ for patients: ‘Why did I get this cancer? Is it something I could be passing on to my children?’ We’ve been taught that the answer is no; blood cancers are not hereditary, but we know now, from research, that some are.”

Amy explains the value of this translational research - from clinic to lab and back to clinic - is that you don’t have to wait years to see the impact or to implement findings. A patient who has been assessed as being at risk of having a hereditary blood cancer can be offered the opportunity for genetic testing. Results have the potential to inform their treatment going forward, answer questions and provide important information for family members.

She adds that knowing if a patient’s blood cancer is inherited helps identify at-risk family members earlier, enables providers to watch for other cancers to which the patient may be prone because of the specific genetic mutation, and could help tailor treatment for the patient. 

“Bone marrow transplants are a common treatment for people with blood cancers and matched siblings are typically the preferred donors,” says Amy. “But if a patient’s cancer is hereditary, a sibling donor could be a carrier of the same genetic change and using that individual as a stem cell donor would only give back the mutation that caused the cancer in the first place.”

In Nova Scotia, testing for genetic mutations for blood cancers is only available in Halifax and is done using a skin punch biopsy, a somewhat invasive procedure that can be uncomfortable and can occasionally cause issues such as infection or bleeding, especially in people with compromised immune systems. Once the biopsy is completed, the sample needs to be grown in the lab to wash away the blood to get hereditary (germline) DNA. This process takes an additional month before the actual testing can be started. 

Amy’s latest research project, made possible through an $89,000 grant from Research Nova Scotia (Early Career Investigator Award), is to develop a non-invasive and more accessible genetic test for blood cancers. The study will compare genetic test results from nail clippings with those provided by skin biopsies to determine if nail clippings provide similar results.

If study results prove that nail clippings are as effective as a skin biopsy in determining genetic mutation for blood cancers, the benefits will include: eliminating stress and worry for patients who are concerned about having a skin biopsy, making testing fully accessible across the province, achieving a quicker turnaround time for test results, and saving significant money in lab costs, which could be redirected to another area of concern. The study will take about two years to complete.

In the meantime, Amy continues to focus on patient care and other research projects. When not in the lab or caring for patients, Amy is a busy mom to Declan, four, and Emma, two. And in her spare time, she returns to her childhood love – playing hockey – with the Nova Scotia Women’s Hockey League, A Division. Family first, then medicine – and hockey, which provides joy, balance and Trottier says, “enables me to live in the moment.” 

Dr. Trottier’s cancer risk clinic for people with blood cancers has been operational since mid-2020 and is currently the only clinic of its kind in Canada, with the ability to offer local (non-commercial) clinical genetic testing to patients with suspicion of hereditary blood cancer. Local genetic testing for blood cancers is performed at the IWK Clinical Genomics Lab and was made possible by a 2020 QEII Foundation Translating Research into Care Healthcare Improvement grant led by Dr. Trottier and Dr. Jo-Ann Brock. Only one other location in Canada (Quebec) has local hereditary genetic testing for blood cancers, though several other centres are trying to establish such testing. 

Photo of Dr. Amy Trottier.

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