Expanded genetic carrier screening in clinical practice: a current survey of patient impressions and attitudes

  • Nigel Pereira
  • Michelle Wood
  • Emerly Luong
  • Allison Briggs
  • Michael Galloway
  • Rose A. Maxwell
  • Steven R. LindheimEmail author
Assisted Reproduction Technologies



Expanded genetic carrier screening (ECS) is an important part of gynecological practice and preconception planning. We evaluated the awareness and attitudes among women regarding ECS and factors that may influence decision-making in a family planning context.


A 32-question survey in an academic university practice was given to 521 women who were either currently pregnant (n = 108), undergoing gynecologic care who were considering future fertility (n = 308), and considering or receiving fertility treatment (n = 105). Data are reported descriptively.


Forty-seven percent (n = 246) of patients were aware of ECS. Though most reported feeling positive or neutral towards ECS, 51% (n = 263) reported no desire for testing. Fifty-eight percent (n = 303) felt it beneficial to know their carrier status, and 55% (n = 257) said it was their responsibility to undergo testing. Those considering future fertility were found to have a more positive attitude towards ECS (51.4%) than those considering or receiving fertility treatment (34%). For positive carriers of a genetic disorder, 228 (49%) of patients would proceed with having their partner screened, 58 (13%) would undergo prenatal screening only and 12 (2.6%) would continue with vitro fertilization (IVF). Related to cost for ECS, 53.5% (n = 191) would be willing to pay at least $50–100 for testing, while 29% (n = 146) would not pay anything out of pocket.


Despite patients’ beliefs that it would be beneficial and their responsibility to undergo carrier status testing, the majority reported no desire for ECS and many were unwilling to pay out of pocket. Further education is necessary to reconcile the gap between technology and patient decision-making.


Carrier screening Expanded carrier screening Genetic screening Patient perceptions Reproductive genetics 


Compliance with ethical standards

This prospective qualitative survey study was reviewed and approved by the Wright State Physicians, Boonshoft School of Medicine, Institutional Review Board (Dayton, Ohio) (SC-5876), and the study was in compliance with privacy act guidelines. From July 2015 to August 2016 subjects were recruited to participate in this prospective clinical study.

Conflict of interest

Steven R. Lindheim, MD, MMM received a grant from Progenity®, San Diego, CA. Study funded by Progenity®, unrestricted research grant. There was no involvement by Progenity in writing this manuscript. The remaining authors report no conflict of interest.

Military disclaimer

The statements made in this article are not a reflection of the US government or military positions or opinions.


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© Springer Science+Business Media, LLC, part of Springer Nature 2019

Authors and Affiliations

  1. 1.The Ronald O. Perelman and Claudia Cohen Center for Reproductive MedicineWeill Cornell MedicineNew YorkUSA
  2. 2.Department of Obstetrics, Gynecology, and Reproductive SciencesUniversity of California San FranciscoSan FranciscoUSA
  3. 3.Camran Nezhat InstitutePalo AltoUSA
  4. 4.Department of Obstetrics and Gynecology, Boonshoft School of MedicineWright State UniversityDaytonUSA
  5. 5.Wright-Patterson USAF Medical CenterDaytonUSA

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