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User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia

  • Original Research
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Journal of Genetic Counseling

Abstract

The study aimed to explore with consanguineous couples in Australia the acceptability and perceived utility of whole exome reproductive carrier screening for autosomal recessive and X-linked recessive conditions. Semi-structured interviews with 21 consanguineous couples were conducted prior to the offer of screening. Interviews were coded, and thematic analysis was informed by an inductive approach. Three major themes were identified: experiences and attitudes of Australian consanguineous couples, childhood genetic conditions and beliefs, and the perceived utility of genomic screening. All but one couple had previously sought genetic advice, and a large majority of couples were aware of childhood conditions within their family or community. Thirteen couples perceived consanguinity as increasing the risk of having affected children. Nine spoke of premarital screening programs routinely conducted in their countries of origin. All supported the concept and availability of genomic reproductive carrier screening. Hypothetically, if found to be carriers of a severe childhood disorder, 13 couples reported they would test a pregnancy, and 12 of whom would consider termination of pregnancy or pre-implantation genetic diagnosis. Four couples would not test a pregnancy and two were unsure. A majority of couples would communicate potential at-risk status to family members, although there were some caveats. Fourteen couples chose to have exome screening and reported that they would utilize the results with the goal of preventing childhood conditions. Of these couples, nine (64%) had an affected child but were aware that testing may reveal they were at risk for a child with a different condition and five (71%) without an affected child. While from diverse ethnic and backgrounds, all couples practiced a religion and all but one couple were recruited from the same clinical genetics unit, with a likely higher genetic literacy and bias towards accepting genetic testing. However, the choice made by all couples was reportedly made with consideration of their personal values, their current family situation, and exome testing issues, including fear of incidental findings and concerns about test reliability.

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References

  • Ahmed, S., Hewison, J., Green, J. M., Cuckle, H. S., Hirst, J., & Thornton, J. G. (2008). Decisions about testing and termination of pregnancy for different fetal conditions: a qualitative study of European White and Pakistani mothers of affected children. Journal of Genetic Counseling, 17(6), 560–572.

    Article  PubMed  Google Scholar 

  • Al-Aama, J. Y., Al-Nabulsi, B. K., Alyousef, M. A., Asiri, N. A., & Al-Blewi, S. M. (2008). Knowledge regarding the national premarital screening program among university students in western Saudi Arabia. Saudi Medical Journal, 29(11), 1649–1653.

    PubMed  Google Scholar 

  • Al-Allawi, N. A., Jalal, S. D., Ahmed, N. H., Faraj, A. H., Shalli, A., & Hamamy, H. (2013). The first five years of a preventive programme for haemoglobinopathies in Northeastern Iraq. Journal of Medical Screening, 20(4), 171–176.

    Article  PubMed  Google Scholar 

  • Al-Farsi, O. A., Al-Farsi, Y. M., Gupta, I., Ouhtit, A., Al-Farsi, K. S., & Al-Adawi, S. (2014). A study on knowledge, attitude, and practice towards premarital carrier screening among adults attending primary healthcare centers in a region in Oman. BMC Public Health, 14, 38.

    Article  Google Scholar 

  • Al-Gazali, L., Hamamy, H., & Al-Arrayad, S. (2006). Genetic conditions in the Arab world. BMJ, 333(7573), 831–834.

    Article  PubMed  PubMed Central  Google Scholar 

  • Becker, R., Keller, T., Wegner, R. D., Neitzel, H., Stumm, M., Knoll, U., et al. (2015). Consanguinity and pregnancy outcomes in a multi-ethnic, metropolitan European population. Prenatal Diagnosis, 35(1), 81–89.

    Article  PubMed  Google Scholar 

  • Bennett, R., Motulsky, A., Bittles, A., Hudgins, L., Uhrich, S., Lochner, D., et al. (2002). Genetic counseling and screening of consanguineous couples and their offspring: recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling, 11(2), 97–119.

    Article  PubMed  Google Scholar 

  • Bishop, M., Metcalfe, S., & Gaff, C. (2008). The missing element: consanguinity as a component of genetic risk assessment. Genetics in Medicine, 10(8), 612–620.

    Article  PubMed  Google Scholar 

  • Bittles, A. (2001). Consanguinity and its relevance to clinical genetics. Clinical Genetics, 60(2), 89–98.

    Article  PubMed  CAS  Google Scholar 

  • Bittles, A. H. (2003). The bases of western attitudes to consanguineous marriage. Developmental Medicine and Child Neurology, 45(2), 135–138.

    Article  PubMed  CAS  Google Scholar 

  • Bittles, A. H. (2008). A community genetics perspective on consanguineous marriage. Journal of Community Genetics, 11(6), 324–330.

    CAS  Google Scholar 

  • Bittles, A. H. (2012). Consanguinity in context. Cambridge: Cambridge University Press.

    Book  Google Scholar 

  • Bittles, A. H., & Black, M. L. (2010). Evolution in health and medicine Sackler colloquium: Consanguinity, human evolution, and complex diseases. Proceedings of the National Academy of Sciences of the United States of America, 107(Suppl 1), 1779–1786.

    Article  PubMed  PubMed Central  Google Scholar 

  • Bittles A. H., & Black M. L. (2015). Global patterns and tables of consanguinity. Retrieved from http://consang.net

  • Braun, V., & Clarke, V. (2006). Using thematic analysis in psychology. Qualitative Research in Psychology, 3(2), 77–101.

    Article  Google Scholar 

  • Charsley, K., Storer-Church, B., Benson, M., & Van Hear, N. (2012). Marriage-related migration to the UK. International Migration Review, 46(4), 861–890.

    Article  Google Scholar 

  • Cowan, R. S. (2009). Moving up the slippery slope: mandated genetic screening on Cyprus. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 151C(1), 95–103.

    Article  PubMed  Google Scholar 

  • de Costa, C. (1988). Pregnancy outcomes in Lebanese-born women in western Sydney. The Medical Journal of Australia, 149(9), 457–460.

    PubMed  Google Scholar 

  • el-Shazly, M., Bakry, R., Tohamy, A., Ali, W. M., Elbakry, S., Brown, S. E., et al. (2010). Attitudes toward children with clefts in rural Muslim and Hindu societies. Annals of Plastic Surgery, 64(6), 780–783.

    Article  PubMed  CAS  Google Scholar 

  • Fallah, M. S., Samavat, A., & Zeinali, S. (2009). Iranian national program for the prevention of thalassemia and prenatal diagnosis: mandatory premarital screening and legal medical abortion. Prenatal Diagnosis, 29(13), 1285–1286.

    Article  PubMed  Google Scholar 

  • Fareed, M., & Afzal, M. (2017). Genetics of consanguinity and inbreeding in health and disease. Annals of Human Biology, 44(2), 99–107.

    Article  PubMed  Google Scholar 

  • Gharaibeh, H., & Mater, F. K. (2009). Young Syrian adults’ knowledge, perceptions and attitudes to premarital testing. International Nursing Review, 56(4), 450–455.

    Article  PubMed  CAS  Google Scholar 

  • Hamamy, H. (2012). Consanguineous marriages: preconception consultation in primary health care settings. Journal of Community Genetics, 3(3), 185–192.

    Article  PubMed  Google Scholar 

  • Hamamy, H., Antonarakis, S. E., Cavalli-Sforza, L. L., Temtamy, S., Romeo, G., Kate, L. P., et al. (2011). Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report. Genetics in Medicine, 13(9), 841–847.

    Article  PubMed  Google Scholar 

  • Hans, J. D., & Kimberly, C. (2014). Abortion attitudes in context: a multidimensional vignette approach. Social Science Research, 48, 145–156.

    Article  PubMed  Google Scholar 

  • Henneman, L., Borry, P., Chokoshvili, D., Cornel, M. C., van El, C. G., Forzano, F., et al. (2016). Responsible implementation of expanded carrier screening. European Journal of Human Genetics, 24(6), e1–e12.

    Article  PubMed  PubMed Central  Google Scholar 

  • Jafri, H., Hewison, J., Sheridan, E., & Ahmed, S. (2015). Acceptability of prenatal testing and termination of pregnancy in Pakistan. Journal of Community Genetics, 6(1), 29–37.

    Article  PubMed  CAS  Google Scholar 

  • Khorasani, G., Kosaryan, M., Vahidshahi, K., Shakeri, S., & Nasehi, M. M. (2008). Results of the national program for prevention of beta-thalassemia major in the Iranian Province of Mazandaran. Hemoglobin, 32(3), 263–271.

    Article  PubMed  CAS  Google Scholar 

  • Kirk, E., Barlow-Stewart, K., Selvanathan, A., Josephi-Taylor, S., Worgan, L., Rajagopalan, S. et al. (2018). Beyond the panel: preconception screening in consanguineous couples using the TruSight One “Clinical Exome”. Genetics in Medicine. Accepted 19 May 2018.

  • Michie, S., Lester, K., Pinto, J., & Marteau, T. M. (2005). Communicating risk information in genetic counseling: an observational study. Health Education & Behavior, 32(5), 589–598.

    Article  Google Scholar 

  • Nariman, A., Sobhan, M. R., Savaei, M., Aref-Eshghi, E., Nourinejad, R., Manoochehri, M., et al. (2016). The genetic background of Southern Iranian couples before marriage. Balkan Journal of Medical Genetics: BJMG, 19(2), 71–74.

    Article  PubMed  CAS  Google Scholar 

  • Nelson, J., Smith, M., & Bittles, A. H. (1997). Consanguineous marriage and its clinical consequences in migrants to Australia. Clinical Genetics, 52(3), 142–146.

    Article  PubMed  CAS  Google Scholar 

  • Neter, E., Wolowelsky, Y., & Borochowitz, Z. U. (2005). Attitudes of Israeli Muslims at risk of genetic conditions towards pregnancy termination. Journal of Community Genetics, 8(2), 88–93.

    Article  Google Scholar 

  • Panter-Brick, C. (1991). Parental responses to consanguinity and genetic disease in Saudi Arabia. Social Science & Medicine, 33(11), 1295–1302.

    Article  CAS  Google Scholar 

  • Port, K. E., Mountain, H., Nelson, J., & Bittles, A. H. (2005). Changing profile of couples seeking genetic counseling for consanguinity in Australia. American Journal of Medical Genetics. Part A, 132A(2), 159–163.

    Article  PubMed  Google Scholar 

  • Posch, A., Springer, S., Langer, M., Blaicher, W., Streubel, B., & Schmid, M. (2012). Prenatal genetic counseling and consanguinity. Prenatal Diagnosis, 32(12), 1133–1138.

    Article  PubMed  Google Scholar 

  • Raz, A. E., Atar, M., Rodnay, M., Shoham-Vardi, I., & Carmi, R. (2003). Between acculturation and ambivalence: knowledge of genetics and attitudes towards genetic testing in a consanguineous Bedouin community. Journal of Community Genetics, 6(2), 88–95.

    Google Scholar 

  • Sallevelt, S., de Koning, B., Szklarczyk, R., Paulussen, A. D. C., de Die-Smulders, C. E. M., & Smeets, H. J. M. (2017). A comprehensive strategy for exome-based preconception carrier screening. Genetics in Medicine, 219(5), 583–592.

    Article  Google Scholar 

  • Shaw, A., & Hurst, J. A. (2009). ‘I don’t see any point in telling them’: attitudes to sharing genetic information in the family and carrier testing of relatives among British Pakistani adults referred to a genetics clinic. Ethnicity & Health, 14(2), 205–224.

    Article  Google Scholar 

  • Sulem, P., Helgason, H., Oddson, A., Stefansson, H., Gudjonsson, S. A., Zink, f., et al. (2015). Identification of a large set of rare complete human knockouts. Nature Genetics, 47(5), 448–452.

    Article  PubMed  CAS  Google Scholar 

  • van El, C. G., Cornel, M. C., Borry, P., Hastings, R. J., Fellman, F., Hodgson, S. V., et al. (2013). Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics. European Journal of Human Genetics, 21(Suppl 1), S1–S5.

    PubMed  PubMed Central  Google Scholar 

  • Verdonk, P., Metselaar, S., Storms, O., & Bartels, E. (2018). Reproductive choices: a qualitative study of Dutch Moroccan and Turkish consanguineously married women’s perspectives on preconception carrier screening. BMC Women’s Health, 18, 79–89.

    Article  PubMed  PubMed Central  Google Scholar 

  • Zlotogora, J., & Shalev, S. A. (2010). The consequences of consanguinity on the rates of malformations and major medical conditions at birth and in early childhood in inbred populations. American Journal of Medical Genetics. Part A, 2152A(8), 2023–2028.

    Article  Google Scholar 

  • Zlotogora, J., & Shalev, S. A. (2014). A long-term follow up of premarital counseling in the Israeli Arab population. Journal of Community Genetics, 5(4), 377–381.

    Article  PubMed  PubMed Central  Google Scholar 

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Acknowledgements

We thank the participants in this study.

Funding

This study was funded by a grant from the Apex Foundation for Research into Intellectual Disability. Bettina Meiser was supported by a National Health and Medical Research Council (NHMRC) of Australia Senior Research Fellowship Level B (ID 1078523).

Author information

Authors and Affiliations

  1. Centre for Clinical Genetics, Sydney Children’s Hospital, High St., Randwick, Sydney, NSW, 2031, Australia

    Sarah Josephi-Taylor, Tony Roscioli & Edwin P. Kirk

  2. School of Women’s and Children’s Health, UNSW Medicine, Sydney, NSW, 2052, Australia

    Sarah Josephi-Taylor & Edwin P. Kirk

  3. Northern Clinical School, Faculty of Medicine and Health, Kolling Institute Level 7, Sydney Medical School Northern, University of Sydney Royal North Shore Hospital, University of Sydney, St. Leonards, Sydney, NSW, 2065, Australia

    Kristine Barlow-Stewart

  4. Clinical Genetics Services SWSLHD, Liverpool Hospital, Liverpool, NSW, 2170, Australia

    Arthavan Selvanathan, Lisa Worgan, Sulekha Rajagopalan & Alison Colley

  5. School of Medical and Health Sciences, Edith Cowan University, Joondalup, WA, 6027, Australia

    Alan Bittles

  6. Prince of Wales Clinical School, Faculty of Medicine, UNSW , Sydney, NSW, 2052, Australia

    Bettina Meiser

  7. Genetics Laboratory, NSW Health Pathology East, Randwick, Sydney, NSW, 2031, Australia

    Edwin P. Kirk

Authors
  1. Sarah Josephi-Taylor
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  2. Kristine Barlow-Stewart
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  4. Tony Roscioli
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  5. Alan Bittles
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  6. Bettina Meiser
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  7. Lisa Worgan
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  8. Sulekha Rajagopalan
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  9. Alison Colley
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  10. Edwin P. Kirk
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Contributions

All authors made substantial contributions to:

• The conception, design, analysis, and interpretation of data for the work

• Drafting the work or revising it critically for important intellectual content

• Final approval of the version to be published

• All agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

Corresponding author

Correspondence to Kristine Barlow-Stewart.

Ethics declarations

The study was approved by the South Eastern Sydney Local Health District Human Research Ethics Committee (reference no 14/026).

Conflict of Interest

Sarah Josephi-Taylor, Arthavan Selvanathan, Tony Roscioli, Lisa Worgan, Sulekha Rajagopalan, Alison Colley, and Edwin P Kirk declare that they have no conflict of interest.

Bettina Meiser has a remunerated consultant role with the company Astrazeneca with respect to an unrelated project.

Kristine Barlow-Stewart has a remunerated consultant role with the company Sonic Genetics in regard to writing patient information.

Alan Bittles has acted as a consultant on consanguinity for Merck, Sharp, and Dohme.

Human Studies and Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (Bittles and Black 2015).

Animal Studies

No animal studies were carried out by the authors for this article.

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Josephi-Taylor, S., Barlow-Stewart, K., Selvanathan, A. et al. User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia. J Genet Counsel (2018). https://doi.org/10.1007/s10897-018-0298-5

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