Abstract
The offering and acceptance of expanded carrier screening is increasing among pregnant women including women without an increased risk based on race, ethnicity or family history. The chances of a positive screening test have been reported to be as high as 24 % when multiple conditions are screened. Yet, little is known about the way these tests are offered and how patients are affected by a positive test result. To explore this area of genetic testing, interviews (n = 17) were conducted among women who received positive expanded carrier results in the context of obstetric care. A content analysis was conducted on the transcript data from the interviews. Outcomes of this research suggest that educational interventions are needed to improve maternal understanding of positive carrier screening results. Most of the participants in this study confused the results with other prenatal screening test options. In addition, the way the results were discussed varied greatly, and influenced participants’ thoughts about reproductive decisions that led to a range of emotional uncertainty. Our data suggests that genetic counseling improved participants’ understanding of positive results. More research is needed to further understand if our results are consistent within a larger, more diverse sample, and to explore how to best provide education about expanded carrier screening.
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References
Baillie, L. (2015). Promoting and evaluating scientific rigour in qualitative research. Nursing Standard, 29(46), 36–42. doi:10.7748/ns.29.46.36.e8830.
Borry, P., Henneman, L., Lakeman, P., ten Kate, L. P., Cornel, M. C., & Howard, H. C. (2011). Preconceptional genetic carrier testing and the commercial offer directly-to-consumers. Human Reproduction (Oxford, England), 26(5), 972–977.
Clayton, E. W., Hannig, V. L., Pfotenhauer, J. P., Parker, R. A., Campbell 3rd, P. W., & Phillips 3rd, J. A. (1995). Teaching about cystic fibrosis carrier screening by using written and video information. American Journal of Human Genetics, 57(1), 171–181.
Darcy, D., Tian, L., Taylor, J., & Schrijver, I. (2011). Cystic fibrosis carrier screening in obstetric clinical practice: knowledge, practices, and barriers, a decade after publication of screening guidelines. Genetic Testing and Molecular Biomarkers, 15(7–8), 517–523. doi:10.1089/gtmb.2010.0228.
Edwards, J. G., Feldman, G., Goldberg, J., Gregg, A. R., Norton, M. E., Rose, N. C., et al. (2015). Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of genetic counselors, perinatal quality foundation, and Society for Maternal-Fetal Medicine. Obstetrics and Gynecology, 125(3), 653–662. doi:10.1097/aog.0000000000000666.
Grody, W. W., Thompson, B. H., Gregg, A. R., Bean, L. H., Monaghan, K. G., Schneider, A., & Lebo, R. V. (2013). ACMG position statement on prenatal/preconception expanded carrier screening. Genetics in Medicine, 15(6), 482–483. doi:10.1038/gim.2013.47.
Ioannou, L., McClaren, B. J., Massie, J., Lewis, S., Metcalfe, S. A., Forrest, L., & Delatycki, M. B. (2014). Population-based carrier screening for cystic fibrosis: a systematic review of 23 years of research. Genetics in Medicine, 16(3), 207–216. doi:10.1038/gim.2013.125.
Lazarin, G. A., Haque, I. S., Nazareth, S., Iori, K., Patterson, A. S., Jacobson, J. L., et al. (2013). An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. Genetics in Medicine, 15(3), 178–186. doi:10.1038/gim.2012.114.
Lewis, R. (2013). Genetic testing: carrier confusion and genration reversal. DNA Science Blog: Genetics in Context. February 7, 2013.
Miles, M. B., & Huberman, A. M. (1994). Qualitative data analysis. Thousand Oaks, CA: Sage
Ormond, K. E., Iris, M., Banuvar, S., Minogue, J., Annas, G. J., & Elias, S. (2007). What do patients prefer: informed consent models for genetic carrier testing. Journal of Genetic Counseling, 16(4), 539–550. doi:10.1007/s10897-007-9094-3.
Rothwell, E., Anderson, R., Goldenberg, A., Lewis, M. H., Stark, L., Burbank, M., Wong, B., & Botkin, J. R. (2012). Assessing Public Attitudes on the Retention and Use of Residual Newborn Screening Blood Samples: A Focus Group Study. Social Science & Medicine, 74, 1305–1309. doi:10.1016/j.socscimed.2011.12.047.
Sandelowski, M. (2000). Whatever happened to qualitative description? Research in Nursing & Health, 23, 334–340.
Warsch, J. R., Warsch, S., Herman, E., Zakarin, L., Schneider, A., Hoffman, J., et al. (2014). Knowledge, attitudes, and barriers to carrier screening for the Ashkenazi Jewish panel: a Florida experience : education and barriers assessment for Jewish genetic diseases. Journal of Community Genetics, 5(3), 223–231. doi:10.1007/s12687-013-0179-4.
Wienke, S., Brown, K., Farmer, M., & Strange, C. (2014). Expanded carrier screening panels-does bigger mean better? Journal of Community Genetics, 5(2), 191–198. doi:10.1007/s12687-013-0169-6.
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This research was funded by the Utah Center for Excellence in Ethical, Legal and Social Implication Research (UCEER) (NIH; P20 HG007249).
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Erin Rothwell has no conflict of interest.
Erin Johnson has no conflict of interest.
Amber Mathiesen has no conflict of interest.
Kylie Golden has no conflict of interest.
Audrey Metcalf has no conflict of interest.
Nancy C. Rose has no conflict of interest.
Jeffrey R. Botkin has no conflict of interest.
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 (5). Informed consent was obtained from all patients for being included in the study.
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No animal studies were carried out by the authors for this article.
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Rothwell, E., Johnson, E., Mathiesen, A. et al. Experiences among Women with Positive Prenatal Expanded Carrier Screening Results. J Genet Counsel 26, 690–696 (2017). https://doi.org/10.1007/s10897-016-0037-8
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DOI: https://doi.org/10.1007/s10897-016-0037-8