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Medicine Science

Study Finds New Clues About Causes of Cancer (theguardian.com) 15

Analysis of thousands of tumours has unveiled a treasure trove of clues about the causes of cancer, representing a significant step towards the personalisation of treatment. The Guardian: Researchers say that for the first time it is possible to detect patterns -- called mutational signatures -- in the DNA of cancers. These provide clues including about whether a patient has had past exposure to environmental causes of cancer such as smoking or UV light, for example. This is important as these signatures allow doctors to look at each patient's tumour and match it to specific treatments and medications. However, these patterns can be detected only through analysis of the vast amounts of data unearthed by whole genome sequencing -- identifying the genetic makeup of a cell.
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Study Finds New Clues About Causes of Cancer

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  • by CaptQuark ( 2706165 ) on Saturday April 23, 2022 @12:27AM (#62471114)

    Fred Hutchinson Cancer Center in Seattle has done similar studies of the DNA in cancers.

    https://www.fredhutch.org/en/r... [fredhutch.org]

  • by bunyip ( 17018 ) on Saturday April 23, 2022 @07:31AM (#62471532)

    If they truly mean "whole genome", that has only just been achieved. More likely it's the whole exsome, which is the coding of all the proteins. This can be done for less than $200. You can process the sequencer output (FASTQ files) with open source tools and reduce it to a set of calls (VCF, INDEL, etc) which describes the differences (ie. mutations) when compared to the reference genome. That output, in text form, is a few dozen MB. No big deal.

    The challenge to this, as others have pointed out, is that customized treatments will be ridiculously expensive. I'll bet they'll even markup the cost of the lab work 5-10x

    • by backslashdot ( 95548 ) on Saturday April 23, 2022 @12:10PM (#62472028)

      It was "whole genome sequencing" not exome, but whole as in most of the genome (95%.) The term whole genome sequencing has been used for decades even when it is 95% of the genome. And no, customized treatments don't have to be ridiculously expensive. In the long term, the costs will drop dramatically unless there is legislative BS that keeps out competition and over-regulates to deliberately keep the cost high.

    • Yeah, but nobody has been able to collect the data in large quantities and compare it. There have been no quantitive studies on this scale.

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