“Allowing us to focus on one side of the family will save lives by focusing on prevention efforts. This new approach will remove the unnecessary psychological burden of testing for diseases. family members on the other side who are not at increased risk need clinical counseling and focus resources on identifying and supporting those who are truly at risk.”
Dr Steven Jones, co-director of the Center for Genomic Science and professor of medical genetics at UBC added: “This approach has been enabled by new long-read sequencing technology, which can sequence not only DNA, but also identify subtle functional changes to DNA.” Unlike other DNA sequencing methods, this method uses thousands of microscopic pores for identification. DNA sequences as it moves through them.
Dr Louis Lefebvre, an associate professor of medical genetics at UBC and co-author of the paper, said: “All of our chromosomes have markers that indicate whether the chromosome came from the mother or not. our father”. “The challenge is that of the more than three billion base pairs that represent our genome, only about 190 small regions contain parental markers.” The technology developed by Dr Lansdorp provided the final missing piece, allowing these small regions to be linked to entire chromosomes.
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For some patients, the promise of this test may be more profound. People who carry harmful variants of the SDHD or SDHAF2 genes have a very high risk of certain cancers throughout their lives, but only if the defective gene is inherited from their father. If it is inherited from the mother, the patient is not at increased risk. For people at risk, they must have regular screening and testing to identify tumors early.
However, for some individuals with a variant, family members are not present to help determine which parent the variant is inherited from. For half of the approximately 300 patients in Canada in this location and many more around the world, this new test could eliminate unnecessary hospital visits and the psychological burden of risk. cancer increases.
Source: Eurekalert
