Adopted Individuals’ Views on the Utility and Value of Expanded Carrier Screening

  • Sara Spencer
  • Sarah Ewing
  • Kathryn Calcagno
  • Suzanne O’Neill
Original Research


Adoptees may not have family medical history and ethnicity information. Carrier screening assesses reproductive risk. Expanded carrier screening (ECS) screens for many genetic conditions regardless of a patient’s knowledge of family history and ethnicity. This study aimed to better understand the opinions and attitudes of adopted individuals on the use of ECS in determining a patient’s reproductive genetic risks. Specifically, the study assessed how adopted individuals feel that results of ECS may be useful to them and whether adoptees feel that meeting with a genetics professional in the process of undergoing ECS would be useful. Adult adoptees (N = 124) were recruited online. Their opinions on ECS were explored. The majority reported they had never been offered carrier screening (92%). The majority of adoptees wanted ECS (76%). Neither the amount of contact with biological relatives nor having medical knowledge about biological relatives was significantly associated with adoptees’ desire to pursue ECS. There was a significant positive correlation between adoptees of higher education levels and the amount they would pay for ECS (p = 0.004). The majority of participants (95%) indicated a genetics professional would be helpful when undergoing ECS. The findings suggest this population may want ECS and support from genetics healthcare professionals. Advocacy for genetic counseling and testing for adoptees appears justifiable.


Adopted Genetic test Expanded carrier screen Reproductive risk Family history Ethnicity 



The research performed to produce this manuscript was conducted to fulfill a Master’s degree requirement.

Funding information

Funding for recruitment incentive was provided by the Northwestern University Graduate Program in Genetic Counseling.

Compliance with Ethical Standards

Conflict of Interest

Sara Spencer, Sarah Ewing, Kathryn Calcagno, and Suzanne O’Neill declare that they have no conflict of interest.

Human Subjects and Informed Consent

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. For this type of study, formal consent is not required, but consent was implied once participants initiated the survey.

Supplementary material

10897_2018_256_MOESM1_ESM.docx (20 kb)
ESM 1 (DOCX 20 kb).


  1. American Society of Human Genetics Social Issues Committee report on genetics and adoption: points to consider. (1991). Am J Hum Genet, 48(5), 1009–1010.Google Scholar
  2. Baum, S., Ma, J. & K. Payea. (2013). Education Pays 2013: the benefits of higher education for individuals and society.. Retrieved from
  3. Beauchamp, K. A., Muzzey, D., Wong, K. K., Hogan, G. J., Karimi, K., Candille, S. I., & Haque, I. S. (2017). Systematic design and comparison of expanded carrier screening panels. Genetics in Medicine, 20, 55–63. Scholar
  4. Bell, C. J., Dinwiddie, D. L., Miller, N. A., Hateley, S. L., Ganusova, E. E., Mudge, J., & Kingsmore, S. F. (2011). Carrier testing for severe childhood recessive diseases by next-generation sequencing. Science Translational Medicine, 3(65), 65ra64. Scholar
  5. Calcagno, K. (2012). Medical family history taking practices of private adoption agencies in select Midwest states. (Master of Science), Northwestern University, ChicagoGoogle Scholar
  6. Cho, D., McGowan, M. L., Metcalfe, J., & Sharp, R. R. (2013). Expanded carrier screening in reproductive healthcare: perspectives from genetics professionals. Human Reproduction, 28(6), 1725–1730. Scholar
  7. Chokoshvili, D., Vears, D., & Borry, P. (2017). Expanded carrier screening for monogenic disorders: where are we now? Prenatal Diagnosis, 38, 59–66. Scholar
  8. Dunlop, S., Coyte, P. C., & McIsaac, W. (2000). Socio-economic status and the utilisation of physicians’ services: results from the Canadian National Population Health Survey. Social Science & Medicine, 51(1), 123–133.CrossRefGoogle Scholar
  9. Edwards, J. G., Feldman, G., Goldberg, J., Gregg, A. R., Norton, M. E., Rose, N. C., & Watson, M. S. (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. Scholar
  10. Gross, S. J., Pletcher, B. A., & Monaghan, K. G. (2008). Carrier screening in individuals of Ashkenazi Jewish descent. Genetics in Medicine, 10(1), 54–56. Scholar
  11. Harris, I. D., Fronczak, C., Roth, L., & Meacham, R. B. (2011). Fertility and the aging male. Revista de Urología, 13(4), e184–e190.Google Scholar
  12. Hinton Jr., R. B. (2008). The family history: reemergence of an established tool. Critical Care Nursing Clinics of North America, 20(2), 149–158, v. Scholar
  13. Jones, J., Placek, P. (2017). Adoption by the numbers, 1–41. Retrieved from
  14. National Society of Genetic Counselors. (2014). Genetic testing and adoption. Position Statment. Retrieved from
  15. Rhodes, J. C., Barfield, W. D., Kohn, M. A., Hedberg, K., & Schoendorf, K. C. (2002). Releasing pre-adoption birth records: a survey of Oregon adoptees. Public Health Reports, 117(5), 463–471.CrossRefPubMedPubMedCentralGoogle Scholar
  16. Romero, S., Rink, B., Biggio Jr., J. R., & Saller Jr., D. N. (2017). Committee opinion no. 690: carrier screening in the age of genomic medicine. Obstetrics and Gynecology, 129(3), e35–e40. Scholar
  17. Srinivasan, B. S., Evans, E. A., Flannick, J., Patterson, A. S., Chang, C. C., Pham, T., & Patrizio, P. (2010). A universal carrier test for the long tail of Mendelian disease. Reprod Biomed Online, 21(4), 537–551. Scholar
  18. Sweeny, J. C., & Soutar, G. N. (2001). Consumer perceived value: the development of a multiple item scale. J of Retailing, 77, 203–220.CrossRefGoogle Scholar
  19. Tietze, C. (1957). Reproductive span and rate of reproduction among Hutterite women. Fertility and Sterility, 8(1), 89–97.CrossRefPubMedGoogle Scholar
  20. Vandivere S, Malm, K., & Radel, L.. (2009). Adoption USA: a chartbook based on the 2007 National Survey of Adoptive Parents. Retrieved from
  21. Ventura, S. J., Curtin, S. C., Abma, J. C., & Henshaw, S. K. (2012). Estimated pregnancy rates and rates of pregnancy outcomes for the United States, 1990–2008. National Vital Statistics Reports, 60(7), 1–21.PubMedGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2018

Authors and Affiliations

  1. 1.Obstetrics and GynecologyNorthwestern MedicineChicagoUSA
  2. 2.Department of Clinical GenomicsMayo ClinicRochesterUSA
  3. 3.Genetics CenterOrangeUSA
  4. 4.Center for Genetic MedicineNorthwestern UniversityChicagoUSA

Personalised recommendations