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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

Abstract

Purpose

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.

Methods

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.

Results

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.

Conclusions

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.

Keywords

Carrier screening Expanded carrier screening Genetic screening Patient perceptions Reproductive genetics 

Notes

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.

References

  1. 1.
    Simpson JL. Choosing the best prenatal screening protocol. N Engl J Med. 2005;353(19):2068–70.PubMedGoogle Scholar
  2. 2.
    Kaback MM. Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model. Eur J Pediatr. 2000;159(Suppl 3):S192–5.PubMedGoogle Scholar
  3. 3.
    Cousens NE, Gaff CL, Metcalfe SA, Delatycki MB. Carrier screening for beta-thalassaemia: a review of international practice. Eur J Hum Genet. 2010;18(10):1077–83.PubMedGoogle Scholar
  4. 4.
    Birgens H, Ljung R. The thalassaemia syndromes. Scand J Clin Lab Invest. 2007;67(1):11–25.PubMedGoogle Scholar
  5. 5.
    Abolghasemi H, Amid A, Zeinali S, Radfar MH, Eshghi P, Rahiminejad MS, et al. Thalassemia in Iran: epidemiology, prevention, and management. J Pediatr Hematol Oncol. 2007;29(4):233–8.PubMedGoogle Scholar
  6. 6.
    Yong KN, Wadsworth D, Langlois S, Yong SL, Wilson RD. Thalassemia carrier screening and prenatal diagnosis among the British Columbia (Canada) population of Chinese descent. Clin Genet. 1999;55(1):20–5.PubMedGoogle Scholar
  7. 7.
    Genetics Co. Committee opinion no. 691: carrier screening for genetic conditions. Obstet Gynecol. 2017;129(3):e41–55.Google Scholar
  8. 8.
    Bajaj K, Gross S. Carrier screening: past, present, and future. Journal of Clinical Medicine. 2014;3:1033–42.Google Scholar
  9. 9.
    Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, Ganusova EE, Mudge J, et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med. 2011;3(65):65ra4.PubMedGoogle Scholar
  10. 10.
    Kingsmore S. Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases. PLoS Curr. 2012:e4f9877ab8ffa9.Google Scholar
  11. 11.
    Tanner AK, Valencia CA, Rhodenizer D, Espirages M, Da Silva C, Borsuk L, et al. Development and performance of a comprehensive targeted sequencing assay for pan-ethnic screening of carrier status. J Mol Diagn. 2014;16(3):350–60.PubMedGoogle Scholar
  12. 12.
    Janssens S, Chokoshvili D, Vears D, De Paepe A, Borry P. Attitudes of European geneticists regarding expanded carrier screening. J Obstet Gynecol Neonatal Nurs. 2017;46(1):63–71.PubMedGoogle Scholar
  13. 13.
    Lau TK. Obstetricians should get ready for expanded carrier screening. BJOG. 2016;123(Suppl 3):36–8.PubMedGoogle Scholar
  14. 14.
    Dungan J. Expanded carrier screening: what the reproductive endocrinologist needs to know. Fertil Steril. 2018;109(2):183–9.PubMedGoogle Scholar
  15. 15.
    Ekstrand Ragnar M, Tydén T, Kihlbom U, Larsson M. Swedish parents’ interest in preconception genetic carrier screening. Ups J Med Sci. 2016:1–6.Google Scholar
  16. 16.
    Borry P, Henneman L, Lakeman P, ten Kate LP, Cornel MC, Howard HC. Preconceptional genetic carrier testing and the commercial offer directly-to-consumers. Hum Reprod. 2011;26(5):972–7.PubMedGoogle Scholar
  17. 17.
    Holtkamp KCA, Mathijssen IB, Lakeman P, van Maarle MC, Dondorp WJ, Henneman L, et al. Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives. Eur J Pub Health. 2017;27(2):372–7.Google Scholar
  18. 18.
    De Wert GM, Dondorp WJ, Knoppers BM. Preconception care and genetic risk: ethical issues. J Community Genet. 2012;3(3):221–8.PubMedGoogle Scholar
  19. 19.
    Facio FM, Eidem H, Fisher T, Brooks S, Linn A, Kaphingst KA, et al. Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study. Eur J Hum Genet. 2013;21(3):261–5.PubMedGoogle Scholar
  20. 20.
    Shiroff JJ, Nemeth LS. Public perceptions of recessive carrier testing in the preconception and prenatal periods. J Obstet Gynecol Neonatal Nurs. 2015;44(6):717–25.PubMedGoogle Scholar
  21. 21.
    Clift KE, Halverson CM, Fiksdal AS, Kumbamu A, Sharp RR, McCormick JB. Patients’ views on incidental findings from clinical exome sequencing. Appl Transl Genom. 2015;4:38–43.PubMedGoogle Scholar
  22. 22.
    Schneider JL, Goddard KA, Davis J, Wilfond B, Kauffman TL, Reiss JA, et al. “Is it worth knowing?” focus group participants’ perceived utility of genomic preconception carrier screening. J Genet Couns. 2016;25(1):135–45.PubMedGoogle Scholar
  23. 23.
    Kraft SA, McMullen CK, Porter KM, Kauffman TL, Davis JV, Schneider JL, et al. Patient perspectives on the use of categories of conditions for decision making about genomic carrier screening results. Am J Med Genet A. 2018;176(2):376–85.PubMedGoogle Scholar
  24. 24.
    Bonte P, Pennings G, Sterckx S. Is there a moral obligation to conceive children under the best possible conditions? A preliminary framework for identifying the preconception responsibilities of potential parents. BMC Med Ethics. 2014;15:5.PubMedGoogle Scholar
  25. 25.
    Gilmore MJ, Schneider J, Davis JV, Kauffman TL, Leo MC, Bergen K, et al. Reasons for declining preconception expanded carrier screening using genome sequencing. J Genet Couns. 2017;26(5):971–9.PubMedGoogle Scholar
  26. 26.
    Henneman L, Timmermans DR, Van Der Wal G. Public attitudes toward genetic testing: perceived benefits and objections. Genet Test. 2006;10(2):139–45.PubMedGoogle Scholar
  27. 27.
    Briggs A, Nouri PK, Galloway M, O'Leary K, Pereira N, Lindheim SR. Expanded carrier screening: a current survey of physician utilization and attitudes. J Assist Reprod Genet. 2018;35(9):1631–40.PubMedGoogle Scholar
  28. 28.
    Mennuti MT. Genetic screening in reproductive health care. Clin Obstet Gynecol. 2008;51(1):3–23.PubMedGoogle Scholar
  29. 29.
    Modra LJ, Massie RJ, Delatycki MB. Ethical considerations in choosing a model for population-based cystic fibrosis carrier screening. Med J Aust. 2010;193(3):157–60.PubMedGoogle Scholar
  30. 30.
    Poppelaars FA, Cornel MC, Ten Kate LP. Current practice and future interest of GPs and prospective parents in pre-conception care in the Netherlands. Fam Pract. 2004;21(3):307–9.PubMedGoogle Scholar
  31. 31.
    van der Pal SM, van Kesteren NM, van Wouwe JP, van Dommelen P, Detmar SB. The attitudes and intention to participate in hemoglobinopathy carrier screening in the Netherlands among individuals from Turkish, Moroccan, and Surinamese descent. J Environ Public Health. 2013;2013:374831.  https://doi.org/10.1155/2013/374831.PubMedGoogle Scholar
  32. 32.
    Robinson JO, Carroll TM, Feuerman LZ, Perry DL, Hoffman-Andrews L, Walsh RC, et al. Participants and study Decliners’ perspectives about the risks of participating in a clinical trial of whole genome sequencing. J Empir Res Hum Res Ethics. 2016;11(1):21–30.PubMedGoogle Scholar
  33. 33.
    Chen X, Sanfilippo CJ, Nagiel A, Hosseini H, Mitchell D, McCannel CA, et al. Early detection of retinal hemangioblastomas in Von Hippel-Lindau disease using ultra-widefield fluorescein angiography. Retina. 2018;38(4):748–54.PubMedGoogle Scholar
  34. 34.
    McClaren BJ, Delatycki MB, Collins V, Metcalfe SA, Aitken M. “It is not in my world”: an exploration of attitudes and influences associated with cystic fibrosis carrier screening. Eur J Hum Genet. 2008;16(4):435–44.PubMedGoogle Scholar

Copyright information

© 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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