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Search a person for DNA data that could save his life



This is not to say that the exploding amount of new genetic information that these tests are pumping out, that researchers are racing to interpret and make sense of. They are confronted with so-called “variants of unknown significance” and oncologists often try to explain to patients why they should not worry about these genetic mutations. now“But there may come a day when this information will mean something.”

Yet that part of the story that surprised everyone – politicians, researchers, doctors, technology leaders, privacy and patient advocates – is a problem that seemed much simpler from the start: What do we do with all the data on the options that do and how to make it useful for patients?

In other words, how do we take all the collective genomic data that has been generated so far and understand why some people with certain genetic mutations and cancer status respond to certain drugs?

Biden envisioned such a world in Moonshot̵

7;s cancer plan, which he presented to President Obama in 2016, writing: “We sought to better understand and break down the silos and pipes that prevent information sharing and hinder research progress. and cancer treatment as we build focused and coordinated efforts at home and abroad. “(He complained that while his son Bo was being treated for brain cancer, the family could not receive health records sent between the Walter Reed National Military Medical Center in Bethesda, Maryland, and the Anderson Cancer Center at the University of Texas at Houston because the systems were not compatible.)

Yet these efforts so far have been deeply disappointing. There are many challenges, such as figuring out how to organize, standardize, and store vast amounts of genomic, laboratory, and clinical data — and inserting and exiting the country’s annoying sea of ​​electronic health records while protecting patient privacy.

But the bigger barrier is worse: we live in a country where private healthcare facilities do not share patient data. “When it comes to competitive information, sharing is limited,” said Atul But, director of the Institute for Computational Health Sciences in Bakar at the University of California, San Francisco. “American Airlines does not share with United or Delta.”

Biomedical engineer Steven Salzberg, director of the Center for Computational Biology at Johns Hopkins University, added: “The researchers’ fame lies in their own data. Their motivation is to advance in their own careers. “They have to publish documents and get grants,” he said. “People will share data, but they need outside pressure to do so.”

However, if you have cancer – and you have a brand new DNA report that reveals the exact code for your type of cancer – you will want to know which treatments have worked for other patients like you.

What if their doctors know something yours doesn’t?

In the beginning since 2015, Olson has learned that there is a change in the PI3K signaling pathway, an important regulator of cell growth. He also had a mutation in his tumor suppression gene PTEN, which caused his cancer to become hyperactive. His doctor helped him find a clinical trial for a drug known as a PI3K inhibitor, developed by Verastem Oncology, a biopharmaceutical company based in Needham, Massachusetts.

But when Olson called Monica Mita’s group in Cedars-Sinai to join the process, he was told it was complete. until he uttered those words, “I have sequence data,” he said. “I’m a perfect match.”

Olson traveled from Portland to Los Angeles every few weeks to receive the medicine and undergo monitoring. Within six months, his prostate-specific antigen, the protein secreted by cancer cells that oncologists use to measure a patient’s cancer, dropped to zero, his bone lesions mostly disappeared, and Olson began to feel like his old man again.


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