Revolutionary precision medicine could benefit more patients – Irish Times


The right drug, the right patient, at the right time. This is a powerful promise of personalized or precision medicine, which utilizes technologies such as genomic analysis to tailor treatments to individual patients.

This approach has made advances in cancer treatment and more recently in areas such as neurology. But benefiting more patients requires research with a broader skill set, a better environment for collecting and sharing data, and a keen eye for economic and social impact.

target the tumor

Medical oncologist Professor Maeve Lowry says personalized medicine has revolutionized treatments for some types of cancer, and how it moves to more subtle strategies for dealing with cancer cells in the body. I will explain how I did it.

“Cancer cells have the ability to grow rapidly, and many chemotherapy treatments for cancer simply stop the cells from growing,” says Lowry, professor of translational cancer medicine at Trinity College Dublin. explains Mr. “But we have a lot of rapidly growing cells in our bodies, and when chemicals affect those cells too, patients experience side effects such as hair loss, digestive problems, and susceptibility to infections. There is a possibility.”

Precision medicine takes a more targeted approach and focuses on the subtle nuances of cancer cells, she explains. “One way we can do it is to better understand the molecular basis of what makes this particular tumor grow and spread, often by analyzing its DNA.” Develop therapeutics that specifically block the progression of cancer.

“Because this approach can affect more cancer cells and reduce the risk of side effects associated with more extensive treatments, we can give enough treatment to the cancer cells and hopefully patients will tolerate it.” can do. “

Over the past 20 years or so, significant progress has been made in precision strategies being introduced into clinics, especially for some types of cancer, breast, lung, stomach and skin, says Trinity St. James Cancer Institute. Lowry, who is also the academic director, said:

Sometimes tearingly expensive drugs are used, but their effects can be significant for individuals, says Lowry, speaking at the recent Health Research Council meeting on personalized medicine in Ireland. added Mr. “If we can target the cancer-causing mutations in patients, it could have really amazing clinical results.”

But she notes that precision approaches are only useful for cancers that can detect and target the Achilles heel, and even then, over time, tumors can become resistant to treatment. are doing. “This is an area that needs further research,” she stresses.

Her own research at the Irish Precision Oncology Consortium, funded by the Science Foundation of Ireland, looks at the unusual manifestations of gastrointestinal cancer and explores molecular signatures that could serve as new therapeutic targets.

This study, and any study of personalized medicine, requires careful coordination and an environment in which researchers can collect, access, and share information about cancer, she notes. Finding answers also requires a research team with the right skill set.

“We really need support for those who can make this happen—clinical scientists, geneticists, bioinformatics experts, and many others,” she says. “Also, clinical trials require flexible design, collaboration with patients, characterization of tumors, and sharing of results with other investigators and clinicians so that the results can be used in further powerful research. Patients need to be able to access the test in order to do so.”

Subtle Differences in Neurology

Cancer is one of the most obvious areas where personalized medicine is advancing for patients, but so is neurology, according to Professor Norman Delanti, consultant neurologist at Beaumont Hospital and RCSI College of Medicine and Health Sciences. It is said that it is showing movement to. He specializes in the diagnosis and treatment of epilepsy.

“There are many genes whose mutations can lead to epilepsy,” he says. “And if we can find those mutations, we can design treatments that can help patients in some cases.”

Delanti has seen many such cases, including whole-exome sequencing, which wiped out the coding portion of human DNA, revealing mutations in genes involved in sodium management in the brain. Also included are cases where

“Based on this, we were able to switch the patient to another drug, which had a very beneficial effect on seizures,” he explains. “In another case, genomic analysis revealed that the patient had a problem with sugar metabolism, and controlled dietary changes dramatically improved seizures.”

Delanti, a researcher at the Irish Science Foundation’s Center for Future Neuroscience, says that success depends on having the right tests. “If you can’t do that with your patients, you can’t have a precise diagnosis, and you can’t have a precise treatment,” he says.

He welcomed the publication of HSE’s National Strategy for Accelerating Genetic and Genomic Medicine in Ireland late last year, but stressed that this was just the beginning of what was to happen.

“We need resources that can perform work-up tests that may benefit patients; we need patient registries where we can collect and share information about tests and mutations; We need Shan,” added Delanti.

“We also need an environment where clinicians and scientists can easily and time-efficiently conduct research, where critical tasks such as ethics approval and consent, and data transfer are streamlined, all done quickly and smoothly. increase.”

Prediction of pre-eclampsia

According to biomedical scientist Professor Patricia Maguire, full adoption of electronic patient records in Ireland would facilitate a precision-based approach.

She leads the AI-PREMie project, which seeks new ways to diagnose and predict pre-eclampsia. Pre-eclampsia is a potentially life-threatening condition during pregnancy that can often require early delivery.

“At the moment, there is no way to predict early in pregnancy whether 8% of women will develop pre-eclampsia later in life, and even if pre-eclampsia is diagnosed, we don’t know how it will progress. explains Maguire, a professor of biochemistry at University College Dublin.

“So we’re analyzing blood samples from women across Ireland with suspected pre-eclampsia, monitoring blood changes and correlating them with the course of pregnancy. We then use machine learning to , to find patterns in outcomes that may form the basis for new predictive tests.”

A better understanding of how pre-eclampsia can progress during pregnancy can also help women decide if and when to have a baby. “The safer and longer pregnancies can go on for preeclamptic mothers and babies, the more likely they are to have a positive outcome for both,” she says.

Electronic medical records are a key enabler of this more customized approach to patient care, Maguire said. “Some hospitals have it, some don’t, but he needs one electronic medical record for each patient that works everywhere and is accessible to the right personnel.”

Researchers looking to enhance personalized medicine should also consider the value of their approach, she added. The AI-PREMie project currently involves Professor Geraldine Doyle from the UCD Smurfit School. He analyzes the economic and social implications of a more customized approach to managing pre-eclampsia.

“We are naturally focused on outcomes and patient impact, but we also need to consider how improving outcomes can provide value holistically,” Maguire said. says. “Because after all, we need to provide such a precise approach as a resource.”



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