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The impact of incorrect reporting

Learn about the importance of correct reporting of genome sequencing data and the potential consequences of errors.

In this video, Dr Angela George, Consultant in Oncogenetics, outlines the importance of exercising caution when reporting variants, discussing the challenge posed by variants of uncertain significance.

Dr George describes a case where a woman came to her clinic for predictive testing on the advice of her sister, who had had testing in another country and was found to have a variant of uncertain significance in BRCA2. The woman’s sister was told that this variant was probably responsible for the breast and ovarian cancers that were prevalent in their family, and had a double mastectomy based on this advice. (She was also planning to return to hospital to have both of her ovaries removed as a risk-reducing measure).

As Dr George explains, however, by UK classification, this variant was not deemed to have sufficient evidence linking it to breast and ovarian cancer, so no action would have been taken in the NHS. Then, nine months later, the variant was re-classified as non-pathogenic (non-disease-causing), meaning her patient’s sister had had drastic and unnecessary surgery.

This example drives home the importance of careful and accurate reporting.

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Whole Genome Sequencing: Decoding the Language of Life and Health

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