Exploring the deep link between cancer and genetics

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As the cost of genome and exome sequencing falls, its use in the treatment of rare diseases and self-treatment, for example, is becoming more and more common. But such studies can throw results that do not relate to the desired environment. What to do with these secondary investigations (SFs) or events (IFs) is problematic. The patient should be reported and under what circumstances? How should hospital bedside experts deal with the potentially useless stress they can cause?

At the annual meeting of the Association of European Professionals, Estela Carrasco, MSc, Ph.D. student and genetic consultant at Vall d’Hebron Hospital, Barcelona, ​​Spain, will explain how she and her colleagues set out to check the number of SF / IFs in cancer cells (CSGs) in patients for which exome sequencing was performed complex diseases unrelated to cancer, and to identify CSGs with potential clinical practice that is not related to the purpose of initial research. They also assessed the psychological impact of explaining SF / IFs to patients and their relatives compared to the group they tested for family history. They analyzed findings from 533 patients who were screened for non-cancer symptoms and followed up by examining the psychological impact of SF / IF manifestations on these patients two to six months after giving the results.

“We found differences in pathogenic SF / IFs (possibly pathogens) in CSGs in 2% of patients who underwent exome testing for reasons unrelated to cancer status,” Carrasco said. “This allows us to conduct predictive testing in 42 families, 18 of which carry CSGs.”

The the effect of thought was the highest among those identified as differentiated as never before, but this requires adjusting to the early detection benefits and preventative strategies that may be introduced in families who do not and signs of cancer in the past, the researchers said. “Although 2% of SF / IFs may not sound very good, it is well known. And organic recommendations can help both in communicating results and helping patients and their families adapt to the newly discovered genetic makeup, ”Carrasco said.

The researchers aim to further explore new ways of conveying the results of genetic testing to patients; for example, the effect of dividing when the first result is expressed from the second study. “We believe that having the opportunity to demonstrate the clinical performance of the second study is encouraging for patients.”

Of the 29 dealers identified (11 cases and 18 relatives), 20 have registered to keep an eye on them. The researchers were able to identify three paragangliomas (a type of neuro-endocrine cancer), as well as the onset of breast cancer in a 74-year-old woman with BRCA2 differentiation who completed breast-based population. cancer showing One of the relatives in the BRCA2 family with metastatic cancer of the prostate he was given targeted treatment after his BRCA2 status was revealed.

Special problems arise for children, however. “The principle of a child’s independence may be lost if it is explained before the appropriate age, so health experts caution should be exercised when seeking to study events in young children, ”Carrasco said. their health. To achieve this, it is important to report only genes that can function in a hospital. “

“It is important to provide adequate counseling to individuals who are experiencing exome sequencing, or if there are children to their parents or guardians, to ensure that all medical applications of genetic testing are understood. And, in field of specialists, in cases where exome sequencing physicians with less training in the delivery of SF / IFs, biomedical consultants and biologists should be required to be part of a multidisciplinary team that provides care. “

Professor Alexandre Reymond, President of the Conference, said: giving to patients and their families is clear, understandable, and understandable. ”

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hintInvestigate the deep link between cancer and genetics (2022, June 10) Retrieved 10 June 2022 from

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