Authors: Taghrid Aloraini , Alya Abdulrahim , Gulsan A. Karbani

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Article Info

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Abstract

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Background: In Middle East countries, including Saudi Arabia, 60%–70% of all marriages occur between first cousins, leading to uniquely common genetic disorders compared to Western countries. The primary objective of this study is to investigate differences between the attitudes of genetics professionals and patients toward incidental findings identified through whole-genome sequencing (WGS)/whole exome sequencing (WES). Methodology: A mixed qualitative and quantitative cross-sectional study was done to assess the ethical dilemmas and challenges faced in providing genetic information to Saudi patients attending a genetics clinic. A webbased survey was used to interview the participants. A total of 50 subjects were enrolled in this cross-sectional study, including 20 genetics professionals (MG: medical geneticists and GC: genetic counselors) and 30 patients who were interviewed before and after Next-Generation Sequencing tests. Results: Among the total, 55% of genetic professionals disagreed on patients being provided with their genetic results and raw data, and they preferred focusing on actionable results that yield benefits such as medical treatment and disease prevention. However, the majority of patients (73.3%) were interested in receiving all the raw genomic data for themselves and their children, while 26.7% felt opposite. Conclusion: This study identified differences in the attitudes of genetics professionals and patients toward the reporting of incidental findings from WES/WGS. Overall, the results suggested that GCand MGshould be aware of variations in individual preferences and should respect the beliefs and preferences of their patients.

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Keywords: WES, WGS, incidental findings, attitudes, genetics professionals, patients

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