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      Genetic disorder prenatal diagnosis and pregnancy termination practices among high consanguinity population, Saudi Arabia

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          Abstract

          The prevalence of consanguineous marriage and genetic disorders are high in Saudi Arabia. There were records on the practices of Saudis toward prenatal diagnosis (PND) and termination of pregnancy (TOP), however the sample sizes are small. This study has targeted the Saudi Arabian community and family history of genetic disorders to determine the practices toward PND and TOP. The cross-sectional survey was conducted among Saudis ( n = 2761) to determine their practices toward reproductive-decision making. Regression analysis was conducted to identify the association of the limiting factors, relative merits and family history on the outcomes. Total of 2507 participants returned completed questionnaire. The practice towards PND (68%) were more favorable than TOP (33%). PND was found to be a good opportunity for early diagnosis and gives parent’s choice. Education, history with affected baby, prior knowledge and religious belief were significant deciding factors of PND and TOP. Down syndrome ( n = 161) and sickle cell anemia ( n = 152) were commonly available genetic disorder among participant’s family. Respondents with autistic cases in their family have higher acceptance rate for TOP. Non-consanguineous are more willing to consider TOP than consanguineous. Participants with abnormal fetus, aged of > 36 years, married and educated Saudis were more likely consider TOP. Though, religion is the most influencing factor for not accepting TOP, comparatively willingness to PND and TOP have increased recently. Awareness campaigns about PND and TOP may increase the chances of accepting prenatal genetic diagnosis.

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          The path to personalized medicine.

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            Genetic disorders in the Arab world.

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              Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research

              Genome-wide sequencing in a research setting has the potential to reveal health-related information of personal or clinical utility for the study participant. There is increasing pressure to return research findings to participants that may not be related to the project aims, particularly when these could be used to prevent disease. Such secondary, unsolicited or 'incidental findings' (IFs) may be discovered unintentionally when interpreting sequence data, or as the result of a deliberate opportunistic screen. This cross-sectional, web-based survey investigated attitudes of 6944 individuals from 75 countries towards returning IFs from genome research. Participants included four relevant stakeholder groups: 4961 members of the public, 533 genetic health professionals, 843 non-genetic health professionals and 607 genomic researchers who were invited via traditional media, social media and professional e-mail list-serve. Treatability and perceived utility of incidental results were deemed important with 98% of stakeholders personally interested in learning about preventable life-threatening conditions. Although there was a generic interest in receiving genomic information, stakeholders did not expect researchers to opportunistically screen for IFs in a research setting. On many items, genetic health professionals had significantly more conservative views compared with other stakeholders. This finding demonstrates a disconnect between the views of those handling the findings of research and those participating in research. Exploring, evaluating and ultimately addressing this disconnect should form a priority for researchers and clinicians alike. This social sciences study offers the largest dataset, published to date, of attitudes towards issues surrounding the return of IFs from sequencing research.
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                Author and article information

                Contributors
                fbalexander@iau.edu.sa , borgiomicro@gmail.com
                Journal
                Sci Rep
                Sci Rep
                Scientific Reports
                Nature Publishing Group UK (London )
                2045-2322
                21 November 2019
                21 November 2019
                2019
                : 9
                : 17248
                Affiliations
                [1 ]ISNI 0000 0004 0607 035X, GRID grid.411975.f, Department of Genetic Research, Institute for Research and Medical Consultation (IRMC), , Imam Abdulrahman Bin Faisal University, ; Dammam, 31441 Saudi Arabia
                [2 ]ISNI 0000 0004 0607 035X, GRID grid.411975.f, Department of Obstetrics and Gynaecology, College of Medicine, , Imam Abdulrahman Bin Faisal University, ; Dammam, 31441 Saudi Arabia
                [3 ]ISNI 0000 0004 0607 035X, GRID grid.411975.f, Department of Clinical Pharmacy Research, Institute for Research and Medical Consultation (IRMC), , Imam Abdulrahman Bin Faisal University, ; Dammam, 31441 Saudi Arabia
                [4 ]ISNI 0000 0004 0607 035X, GRID grid.411975.f, Department of Environmental Health Research, Institute for Research and Medical Consultation (IRMC), , Imam Abdulrahman Bin Faisal University, ; Dammam, 31441 Saudi Arabia
                [5 ]ISNI 0000 0004 0607 035X, GRID grid.411975.f, Department of Nano Medicine Research, Institute for Research and Medical Consultation (IRMC), , Imam Abdulrahman Bin Faisal University, ; Dammam, 31441 Saudi Arabia
                [6 ]ISNI 0000 0004 0607 035X, GRID grid.411975.f, Deanship of Quality and Academic Accreditation, , Imam Abdulrahman Bin Faisal University, ; Dammam, 31441 Saudi Arabia
                [7 ]Unit of Hematology for Rare Diseases of the Blood and Blood-forming Organs, Laboratory for Molecular Diagnosis of Rare Diseases, Hospital Villa Sofia Cervello, Palermo, 90145 Italy
                [8 ]Campus of Haematology Franco and Piera Cutino, AOOR Villa Sofia-V. Cervello, Palermo, 90146 Italy
                Author information
                http://orcid.org/0000-0001-8411-1418
                http://orcid.org/0000-0001-7199-1540
                Article
                53655
                10.1038/s41598-019-53655-8
                6872573
                31754150
                ab7b33e4-0b58-42cb-bf1a-6d249fe3732f
                © The Author(s) 2019

                Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

                History
                : 8 January 2019
                : 5 November 2019
                Categories
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                © The Author(s) 2019

                Uncategorized
                consanguinity,genetics research
                Uncategorized
                consanguinity, genetics research

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