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WEXOME gives you the unique chance to know your carrier status for rare genetic diseases that can be transmitted to your offsrping. In autosomal recessive and X-linked recessive disorders, parents are simply healthy carriers of a known pathogenic mutation, while the offsping will be severely affected. Choose to know which recessive genetic diseases you are carrier of, to be aware of your specific reproductive risk and adopt relevant preventative measures such as prentatal testing.
When doing such a large and complete analysis of your genome such as WEXOME, it’s important to undedrstand that seconday fingdings may be found. Secondary findings (also known as incidental findings) have to do with genetic variants which are clinically not manifest at the time of the analysis, but may cause health problems in future. For example, we might find a breast cancer-predisposing mutation in a patient tested for complex congenital disorder (e.g. a BRCA1 mutation). In such a case, if the patient or ehir tutor has previously given consent, the breast-cancer mutation will also be reported. Incidental findings are relatively infrequent, as they may be detected in just 1-3% of all WEXOME analyses. It should be reminded that an incidental finding may be of relevance also for patient’s blood relatives (e.g. parents and siblings), as they may carry the same genetic variant. The American College of Medical Genetics has issued a list of 73 genes for which incidental findings should be reported upon patient’s consent (Miller et al., 2021, PMID: 34012069): see bottom of page for the list of genes and conditions.