Secondary findings from whole-exome sequencing data in families with familial combined hyperlipidemia (FCHL)

Abstract

Abstract Background During the interpretation of genome sequencing data, some types of secondary findings are identified that are located in genes that do not appear to be related to the causes of the primary disease. Although these are not the primary targets for evaluation, they have a high risk for some diseases different from the primary disease. Therefore, they can be vital for preventing and intervention from such disease. Results Here, we analyzed secondary findings obtained from WES in 6 families with FCHL disease who had an autosomal-dominant pattern based on their pedigrees. These finding are found in CDKAL1, ITGA2 , FAM111A , WNK4 , PTGIS , SCN10 , TBX20, DCHS1 , ANK2 and ABCA1 genes. Conclusions Secondary findings are very important and must be considered different variants from sequencing results in a diagnostic setting. Although we have considered these variants as secondary findings, some of them may be related to the primary disease.

Keywords

• Familial combined hyperlipidemia
• FCHL
• Secondary findings
• WES