Precision Medicine Implementation in Cancer Care at Karolinska
One area where serious implementation of precision medicine has begun is within cancer care at Karolinska University Hospital.
Traditionally, targeted analyses on specific individual genes in cancer have been performed. However, nowadays, thanks to precision medicine, a broad panel can be utilized to analyze several hundred genetic abnormalities in tumor cells simultaneously. There is also the possibility to analyze the entire genome using a technique known as whole genome sequencing.
"Through more extensive genomic analyses of cancer cells, one can gain a better understanding of the specific genetic deviations in each individual patient's tumor," says Kristina Sonnevi, Senior Consultant Hematologist at Karolinska University Hospital and chair of the Precision Medicine Forum Cancer.
Several experts collaborate
Every other week, a so-called MTB (Molecylar Tumor Board) conference is held at Karolinska in oncology, where various medical specialties discuss patient cases together.
At the MTB conference, participants gather to collectively analyze the findings and integrate various components into a comprehensive picture. In addition to genomic analysis, diagnostic assessments from pathologists, patient histories, radiographic images, symptomatology, and more are reviewed. Typically, molecular pathologists/clinical geneticists collaborate with oncologists or hematologists during these discussions.
"We can then integrate all pieces of information and, in a more advanced manner, examine how the genetic deviations align with other information," says Kristina.
"This can assist us in making a more precise diagnosis and also identifying anomalies where additional treatments may provide added benefit alongside existing therapies."
Kristina adds, "Another crucial aspect involves patients who haven't responded as desired to standard treatments. In such cases, genetic profiling can help identify patients eligible for phase 1 studies with new medications."
Searchable Database
Kristina emphasizes that the significant advantage lies in the ability to subgroup tumors differently by broadening the scope.
"By gaining expanded detailed knowledge, we'll be able to match patients with the most effective medications for their specific tumor type. To accomplish this, we need a searchable database, and one has actually been developed by a colleague at Karolinska Institutet," says Kristina.
She refers to the MTB portal, a software tool where unique genetic data and diagnostic information are inputted, and then searches are conducted against published data on medications that may be effective for various genetic abnormalities. This tool is now utilized by Kristina and her colleagues before and during the MTB conference.
"Step one is to examine the genetic abnormalities we've identified; is there any effective medication registered for this? If there's no available standard treatment, the next step is to screen the patient for available drug trials."
Precision medicine diagnostics are still in their infancy, but Kristina is convinced that in the future, they will be a natural part of routine cancer care.
"Right now, in the initial phase, it's an essential part of our learning process. Colleagues are welcome to attend one of our conferences to learn more about interpreting genomic data in cancer patients, but also to see how clinicians, geneticists, and molecular pathologists can collaborate even more closely."
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Text: Josefine Franking.
Headshot: Linnéa Jonasson Bernholm.