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Cancer patients have lives transformed by gene tests

Tens of thousands of NHS cancer patients could have their treatment and survival chances transformed thanks to mass genomic testing.

Children being treated at Great Ormond Street Hospital in London are already benefiting from new laboratory services being introduced nationwide. The hospital sends blood and tumor samples to a genomics laboratory hub, one of seven established across England. The hub performs a comprehensive assessment of the genome in that sample, allowing doctors to spot any unusual changes.

By consolidating testing in a few centers, hundreds of samples can be put through a special sequencing system at the same time, making the process cost-effective. “Already within the first six months we can list at least 20 cases where we found additional information which is of use to the patient,” said Dr. Jack Bartram, consultant pediatric hematologist at the hospital. In the past, genetic testing has been used to look one at a time for specific changes that doctors think are most likely to be linked to the type of cancer the patient has. Bartram said: “It’s a kind of iterative approach. You go for the most common things and then you can go down that ladder in more rare diseases.

“With this approach you do everything in one, so you get an answer faster.” Knowing the genetic makeup of a patient’s cancer is increasingly important, as the new generation of cancer drugs target particular genetic changes. One of the hospital’s patients, eight-year-old Ayaan binte Azad, was diagnosed late last year with acute myeloid leukemia (AML) after becoming unwell with a fever, unexplained bouts of exhaustion, and a lack of appetite. Her mother, Masuda Sultana, said: “We were in shock, and after we had the news everything seemed to move so quickly. We were immediately transferred to [the hospital], where Ayaan’s diagnosis was confirmed and she began chemotherapy.

“Although we felt we were in safe hands, Ayaan’s diagnosis and treatment meant we had to stay in hospital for a month. We were away from her father and younger brother for much of that time, which was tough for us as a family. In that time, Ayaan was the quietest I’ve ever seen her.” AML carries only a 60 per cent chance of survival. Masuda said: “We all tried to be strong for Ayaan, but ultimately there was no easy way to tell her that she had a deadly cancer.” However, three weeks after her last dose of chemotherapy, the results of advanced testing in the genomics laboratory hub found a gene that was associated with a different cancer, acute promyelocytic leukemia (APL).

This changed things drastically for the family. The new diagnosis calls for less intensive treatment, so she could be at home with her family, and APL has a long-term survival rate of more than 90 per cent. Bartram said: “That’s completely life-changing [and] this would have been completely missed with the old style of testing. It completely changes the course of treatment and prognosis.” Dr. Lyn Chitty, professor of genetics and fetal medicine at the hospital and medical director at North Thames Genomics Laboratory Hub, said: “We would like to see are more hospitals consolidate their testing in the [laboratory] because the more users we bring into the hub, the more frequently we can run the panels and results will be available even quicker.

“Consolidating laboratory testing in this way means we can offer state-of-the-art techniques to the largest number of patients in London, improving their care and, for some, their lives.” The tests are useful for patients with rare diseases as well as cancer patients, she said, and while the new testing does not help every patient, “for the small percentage that it does help, it can be life-changing”.

She said: “Just having an understanding of what is causing your condition, whether there is anything you can do about it or not, is also very helpful, both for cancer and for rare diseases. “I should be retiring, but it’s so exciting. You want to keep going because you can see the change and you can see the positive things you’re doing for patients at the end of the day.”

Written and published by: Kat Lay | The Times

June 26, 2021

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