Departing geneticist praised

Former patient says genetics team saved her life

Deana Stokes Sullivan
Published on December 2, 2010
Supported by colleagues and even a grateful patient, Dr. Bridget Fernandez (centre) held a news conference at the Newfoundland and Labrador Medical Association office in St. John's Wednesday to say she would be willing to reconsider her resignation if the government was willing to sweeten the offer to doctors and fill the vacancies in her department. Fernandez is a medical geneticist, studying biological variations and identifying gene mutations that cause inherited diseases in families.
Gary Hebbard/The Telegram

Patricia Canning suspected a genetic predisposition in her family to cancer after she was diagnosed with breast cancer.

Canning said Wednesday there had been many deaths in her family due to breast and stomach cancers and when her generation began to approach 40, they seemed to be repeating a pattern that was seen in her father’s generation.

“I so often thought about the words that my father used to say, ‘It’s something in us, and it hits the women worse than the men,’” Canning said.

“And those words were spoken long before the area of medical genetics was developed.”

Dr. Bridget Fernandez, director of the Provincial Medical Genetics Program, and her team confirmed a rare genetic mutation in Canning’s family.

Canning said a woman with this mutation has an 80 per cent chance and a man a 70 per cent chance of having diffuse gastric cancer, which is virtually impossible to detect in time to be treated.

“In addition,” she said, “women with this mutated gene also have a 40 per cent chance of having breast cancer.”

Canning turned out Wednesday at a Newfoundland and Labrador Medical Association (NLMA) news conference to support Fernandez and other specialists in the province who plan to resign in February as a result of a dispute with the province over a two-tiered pay scale, which gives higher salaries to pathologists and oncologists.

Since this revelation about her family, Canning said more than 50 of her relatives have had surgeries to save their lives because they did have early stages of these deadly cancers, while many other relatives in Canada and the U.S. have also benefited from the knowledge gained in Newfoundland.

“I can say with all honesty and conviction that I would not be talking today, would not be here today, if it were not for Dr. Fernandez and the other researchers and physicians in the genetics area,” Canning told reporters.

Cardiologist Dr. Sean Connors also spoke about the importance of the medical genetics team’s work. He said if Fernandez leaves, it will greatly affect his practice.

He said Newfoundland is known to have the highest incidence of heart disease, hypertension, obesity and diabetes in the country.

The Newfoundland genetics team has put Newfoundland on the map, both nationally and internationally because of its work and breakthroughs, Connors said.

Singling out one area, he said, many traditional heart tests can’t pick up heart disease at an early enough stage to save some people and, unfortunately, some of them  are young people who die before they have any symptoms.

“To deliver care to that group of patients, you have to involve genetics, you have to involve DNA,” Connors said.

“In order words, you have apply groundbreaking work and research and bring it to the clinical round where you can treat these Newfoundlanders before they have a problem.”

Connors also voiced concern that this province won’t be able to recruit another doctor with Fernandez’s qualifications and his patients will be at a disadvantage.

Fernandez, meanwhile, told reporters she would reconsider her decision to leave if the province offered specialists a fair and competitive package so that positions that have been vacant can be filled.

Fernandez and another medical geneticist, Dr. Leslie Turner, work with six genetic counsellors in St. John’s and two counsellors at outreach clinics in Gander and Corner Brook.

Fernandez said there are two vacant physician positions, one of which has been vacant since 2002, and the wait for non-urgent assessments is between two and three years.

“We face tremendous recruitment challenges and the main problem is the small size of the medical genetics community in Canada,” Fernandez said, explaining that there are only about 100 practising medical geneticists in Canada.

Fernandez said she was raised in Newfoundland and is a Memorial University medical school graduate.

She did five years of residency training at the Hospital for Sick Children in Toronto and took her first job in St. John’s 11 1/2 years ago.

She’s been director of the province’s medical genetics program for 10 years and is president of the Canadian College of Medical Geneticists.