journal of biomedical informatics
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In Gynecologic (Malignancies) cancers, the Current and Future role of Genetic Screening

Author(s): Peter South*

MThe field of genetic testing is continuously evolving. With the introduction of increasingly powerful genetic mutation panels, it is critical that women’s healthcare practitioners consider proper referral and testing for those women who are at higher risk of cancer. In recent years, the world of hereditary cancers has grown at an exponential rate. While hereditary breast and ovarian cancer, as well as Lynch syndrome, account for the majority of mutations encountered by gynaecologists, new harmful genetic variants and their associated cancer risks continue to be discovered. These advancements in genetic cancer predispositions, on the other hand, force practitioners and their patients to confront the uncertainties of these less commonly identified mutations, as well as the fact that there is limited evidence to guide them in estimating cancer risk and implementing appropriate risk-reduction strategies. Given the rapid pace of information, cancer genetics experts must be consulted when advising these individuals. Furthermore, if accessible, coordinating screening and care with speciality high-risk clinics allows patients to have centralised management for numerous cancer risks under the supervision of clinicians who have experience advising these patients.

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