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Expanded carrier screening: a current survey of physician utilization and attitudes

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

Expanded carrier screening (ECS) is an available component of preconception and prenatal care. There is complexity around offering, administering, and following-up test results. The goal of this study is to evaluate current physicians’ utilization and attitudes towards ECS in current practice.

Methods

This was a prospective qualitative survey study. A 32-question electronic survey was distributed during a 1-year period to obstetricians-gynecologists who were identified using a Qualtrics listserv database.

Results

While more than 90% of physicians offered ethnic-based carrier screening (CS), ECS was offered significantly less (2010, 20.6%, and 2016, 27.1%). Physicians who were not fellowship-trained in reproductive endocrinology and infertility (REI) preferred ethnic-based carrier screening (95.9 vs 16.8%; P < 0.001). REI subspecialists were more likely to offer ECS (80%) compared to 70% of maternal fetal medicine physicians (MFM). Physicians were comfortable discussing negative results (53.6%) compared to positive results (48.4%). Most physicians (56%) believed that ECS should not be offered until the significance of each disease is understood; 52% believed that testing should be restricted to those conditions important to couples; while 26% felt that testing should be done regardless of the clinical significance.

Conclusions

Discussion and application of ECS has increased in clinical practice. However, lack of comfort with counseling and varying beliefs surrounding ECS continue to hinder its utilization. Further education and training programs, and subsequent evaluation are warranted.

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Acknowledgments

L. Ashley Duckworth, Wright State University, no conflict of interest.

Funding

Steven R. Lindheim, MD, MMM received a grant from Progenity®, San Diego, CA. Study funded by Progenity®, unrestricted research grant.

Author information

Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Boonshoft School of Medicine, Wright State University, 128 Apple Street, Suite 3800 Weber CHE, Dayton, OH, 45409, USA

    Allison Briggs, Parvaneh K. Nouri, Michael Galloway, Kathleen O’Leary & Steven R. Lindheim

  2. Wright-Patterson USAF Medical Center, Dayton, OH, USA

    Kathleen O’Leary

  3. The Ronald O. Perelman and Claudia Cohen Center for Reproductive Medicine, Weill Cornell Medicine, New York, NY, USA

    Nigel Pereira

Authors
  1. Allison Briggs
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  2. Parvaneh K. Nouri
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  3. Michael Galloway
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  4. Kathleen O’Leary
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  5. Nigel Pereira
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  6. Steven R. Lindheim
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Corresponding author

Correspondence to Steven R. Lindheim.

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Conflict of interest

There was no involvement by Progenity in writing this manuscript. The remaining authors report no conflict of interest.

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The statements made in this article are not a reflection of the United States Government or Military positions or opinions.

Appendix A

Appendix A

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Briggs, A., Nouri, P.K., Galloway, M. et al. Expanded carrier screening: a current survey of physician utilization and attitudes. J Assist Reprod Genet 35, 1631–1640 (2018). https://doi.org/10.1007/s10815-018-1272-8

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  • DOI: https://doi.org/10.1007/s10815-018-1272-8

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