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Saint John Hospital Donors Back AI-Supported Genetic Testing

A project led by Dr. Doha Itani at the Saint John Regional Hospital pairs advanced genetic testing with AI-supported analysis, so more families can get answers in New Brunswick instead of waiting on labs out of province. The hospital foundation highlighted it this week alongside $402,219 in donor-funded innovation.

Closing card: a DNA strand resolving into a highlighted gene variant beside a shortening wait-time bar; AI-supported genetic testing at the Saint John Regional Hospital, led by Dr. Doha Itani, beside the SJRH Foundation logo and $402,219 invested by donors in innovation and specialized care

Families waiting on a genetic diagnosis in New Brunswick can wait months, and specialized tests are often sent out of province. A project at the Saint John Regional Hospital aims to do more of that work at home.

The project is led by Dr. Doha Itani. It "combines advanced genetic testing with AI-supported analysis to help identify inherited conditions, uncover health risks, and guide more personalized treatment," the Saint John Regional Hospital Foundation wrote in an October 15 post. The post credits donors with "$402,219 invested in advancing innovation and specialized care," and lists four results: specialized care closer to home, wider access to precision medicine, fewer out-of-province referrals, and shorter waits for patients and families. It does not say how much of that figure goes to Itani's project alone.

A test that had to go to Finland

The project grew out of cases like Alyson Cronkhite's. Cronkhite, a medical laboratory technologist at the hospital, told CBC's Luke Beirne in 2025 that her infant son lost weight and missed milestones, but MRIs, ECGs and EEGs all came back normal. His genetic testing had to be sent to Finland, because New Brunswick could not do it. He turned out to have a condition so rare it has no name. At the time, the family was still travelling out of province several times a year for his care.

Cronkhite now works in the hospital's cytogenetics and molecular diagnostics lab and is part of Itani's team, with lab supervisor Renata Yehia and clinical specialist Tiffany Clouston.

Reading the part of the genome that matters

The team's plan, as pitched to donors, is to bring whole exome sequencing to the province, together with AI-powered variant interpretation. The exome is the protein-coding portion of a person's genes. Itani told CBC the approach is like "copying the entire book… but looking for misprints in only the chapter that is relevant." The AI-powered interpretation is meant to help geneticists and pathologists turn those results around faster and more precisely.

Itani also told CBC that New Brunswick's population is now large enough to support the testing at home.

Already a winner with donors

The team pitched the idea, "Establishing Genetic Service in N.B.," at the Foundation's Medical Innovators' Challenge, a Dragons' Den-style event held at the Marco Polo Cruise Terminal in April 2025. It won the $500,000 David Elias CHS Health Care Innovation Award, the event's top prize. The Foundation's finalists page says the project also aims to help attract more genetic specialists to the province.

Who is leading it

Itani is an anatomical pathologist with subspecialty training in hematopathology and molecular genetics pathology, and an associate professor at Dalhousie University. She heads the hospital's Molecular Diagnostics and Cytogenetics division, and since May 1 she has also been head of Laboratory Medicine for Horizon Health Network in Saint John. The Foundation's bio credits her with introducing Canada's first routine use of comprehensive genomic profiling for clinical genetic tumour testing, and with bringing in newer methods such as optical genome mapping.

More on the year's donor-funded projects is in the Foundation's 2025–26 impact report.

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