Chemotherapy: genetic tests accessible everywhere in Quebec

Good news for people with cancer: Three genetic tests to determine if their body will tolerate chemotherapy will soon be available everywhere in Quebec, The Siver Times learned. Thirty patients have recently avoided excruciating deaths or serious complications with a similar test – which has been offered for two years, but still in a random manner. For lack of benefit, a retired Sept-Iles was killed in October by the treatment that was to save him.

“The Ministry of Health and Social Services will take appropriate measures to meet the increased demand for these tests [called genotyping],” spokeswoman Noémie Vanheuverzwijn wrote in an email sent.

A larger number of laboratories could also be designated to perform them, says this message.

These blood tests, inexpensive, can be found in a few days if genetic mutations prevent the patient from eliminating normally two of the most used anticancer drugs to reduce solid tumors in the colon, breast, etc. : 5-Fluorouracil (also called 5-FU) and capecitabine (Xeloda).

In affected people, the standard dose is too toxic because they do not produce a vital enzyme (dihydropyrimidine dehydrogenase or DPD), or too little, to metabolize it.

In two years, the University Hospital of Montreal (CHUM) discovered that 25 of the 2617 patients who had been tested had a problematic mutation, reveal data presented at the annual conference of hematologists and oncologists of Quebec and transmitted to La Presse . (1)

“We did not give 5-FU to some patients because they could have toxicities that would have put their lives in danger. For others, the dose was reduced. ”

– Dr. Denis Soulieres, Director of the CHUM Special Hematology and Molecular Biology Laboratory

By tracking three additional genetic mutations, more patients at risk will be identified in time, he says, but not all, since some reactions remain unknown.

More than 80% of the 2617 samples analyzed in the CHUM laboratory were at the request of doctors from some 35 hospitals (see table below).

According to the institution’s data, at least five patients were tested too late – only after their first cycle of chemotherapy caused very serious side effects and a hospitalization of 15 days per patient, on average.

Patients screened in time were not hospitalized.

Useless death in Sept-Iles

The decision of the Ministry of Health follows the recommendations of the National Institute of Excellence in Health and Social Services (INESSS), made public in a report online five days ago.

This report states that the recommended genotyping should be “integrated into treatment planning” and that patients should be informed of its importance.

A survey of patients reveals that many of them had never been informed of the existence of these tests or the risks associated with the administration of a standard dose, says INESSS.

This is the case of a 69-year-old man, Armel Beaudin, who died on October 24 after a 20-day agony in intensive care, we learned.

“He was healthy and always in a good mood, he could not swallow anymore. His mouth was black, his tongue was like a piece of wood. He had a heart attack. His skin was lifting. All her mucous membranes were swollen … ”

– Anick Beaudin, daughter of Armel Beaudin

On the morning of Mr. Beaudin’s death, Sept-Îles Hospital did the recommended genetic test. “If he had passed the test and received the results in time, my father would still be with us today,” says Beaudin’s daughter, Anick Beaudin.

After the tragedy, Anick Beaudin discovered in a few mouse clicks the existence of the French-speaking Association for the Defense of Victims of 5-FU and similar with a deficit in DPD. “My sister and I, we were really stunned! There was already an association of victims, but the doctors did not know what was happening. They told us, “Time will make things better …” ”

The alarm call of Colette Bibeau

The association they discovered was co-founded by Sherbrooke resident Colette Bibeau. The former lecturer in communications receives messages from the entire Francophonie since La Presse published, in 2015, a report on her husband Paul Allard, who died in the same circumstances as Armel Beaudin.

The 69-year-old men, who were very active, had both been successfully operated, had no metastases, and were therefore killed by purely preventive chemotherapy.

Ms. Bibeau’s alarm call and her tenacity contributed to the implementation of the first genetic screening test two years ago. Since then, she has been hounding the authorities relentlessly.

“When I got the call from Anick Beaudin, I decided to start pushing again. From the beginning, my goal is that the importance of the test is known. Why when you live in Sept-Iles you die because the doctor does not know or will not do it? It is not fair. ”

A man saved in Saint-Hubert

A retiree from Saint-Hubert, Andre Belzile, on the other hand survived thanks to the vigilance of his oncologist at the Pierre-Boucher Hospital. A year and a half ago, the 66-year-old man first received 25% of the standard dose.

“They went up 50% the second time, and in the evening, I would pick myself up at the hospital by ambulance. I had a lot of fever. I was numb, he says. If they made me 100% chemo, it seems like I was dying. That’s what the doctors told me. ”

Since September 10, at least two patients at the University Hospital of Sherbrooke (CHUS) have also been protected from serious complications thanks to genotyping, says Dr. Sebastian Chénier.

The Department of Medical Genetics he directs started to do this internally to avoid shipping delays in Montreal.

The Ministry of Health has written to me that it will be advising this week the medical associations and national committees of the Quebec Cancer Network.

The new INESSS recommendations specify how to adjust the dose of the patients concerned, according to the results of the tests.

(1) “Experience of the implantation of the genotype of the DPYD * 2A mutation in ontological practice in Quebec”, Journal of Clinical Oncology , Catherine Jolivet and others, CHUM.

Origin of the DPYD genotyping requests sent to the CHUM laboratory in 2017-2018

CHUS hospital Fleurimont: 21%

CHUM: 18%

Charles-Le Moyne Hospital: 15%

Maisonneuve-Rosemont Hospital: 8%

St. Mary’s Pavilion: 8%

Gatineau Hospital: 6%

Pierre Boucher Hospital: 6%

Anna-Laberge Hospital: 4%

Haut-Richelieu Hospital: 2%

Hospital of the Sacred Heart of Montreal: 2%

Other (25 institutions, including the McGill University Health Center): 10%

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