ADDITIONAL OPTIONS

Tailor and enrich your WEXOME with Additional Options! Choose to receive additional genetic
information to improve the knowledge about your personal genetic profile!

INCIDENTAL / SECONDARY FINDINGS

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 maybe 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.

CARRIER SCREENING 1ST LEVEL

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.

CARRIER SCREENING 2ND LEVEL

Pharmacogenomics shows how inherited genetic information can influence pharmacology and determines drug behavior. Choose to know how your body reacts to certain drug (and their dosage!). If you select this option, WEXOME will search the covered subset of the most relevant pharmaco-genes and look for selected variants, which are strongly associated to alterations of drugs metabolism. The variants will be listed in the medical report together with the most reliable recommendations, according to PharmGKB and Clinical Pharmacogenetics Implementatio Consortium (CPIC) guidelines. See bottom of page for the list of Pharmacogenomics variants analyzed.

GENES FOR INCIDENTAL / SECONDARY FINDINGS

PHARMACOGENOMICS VARIANTS

Analzyed gene/variants: SLCO1B1 gene: rs4149056. F5: rs6025. G6PD gene: rs1050828, rs1050829, rs5030868, rs5030870, rs137852327, Bangkok, Villeurbanne, rs1050829, rs1050828, rs72554665, rs78478128, rs137852339, rs5030869. CACNA1S: rs772226819, rs1800559. RYR1: rs118192177, rs118192176, rs118192175, rs193922762, rs193922770, rs118192124, rs193922832, rs193922809, rs193922802, rs193922816, rs112563513, rs118192161, rs193922748, rs121918595, rs121918596, rs28933397, rs118192178, rs193922753, rs28933396, rs121918593, rs193922843, rs1801086, rs144336148, rs118192162, rs193922768, rs193922807, rs118192116, rs193922747, rs118192122, rs121918592, rs118192168, rs121918594, rs118192172, rs118192170, rs193922878, rs111888148, rs193922876, rs193922764, rs193922772, rs118192167, rs193922818, rs193922803, rs63749869, rs118192163. CFTR: rs74551128, rs397508537, rs113993958, rs397508288, rs77834169, rs75527207, rs78769542, rs186045772, rs113993960, rs397508256, rs75541969, rs121908757, rs368505753, rs115545701, rs11971167, rs121908753, rs121909041, rs193922525, rs267606723, rs397508513, rs78655421, rs121909020, rs121909005, rs202179988, rs121909013, rs397508759, rs77932196, rs397508442, rs121908752, rs141033578, rs121908755, rs74503330, rs80282562, rs150212784. CYP2C9: *2, *3, *4, *5, *6, *8, *11, *13, *14, *16, *29, *31, *33, *37, *39, *42, *43, *45, *50, *52, *55.