Do research participants share genomic screening results with family members?

Julia Wynn; Hila Milo Rasouly; Tania Vasquez-Loarte; Akilan M. Saami; Robyn Weiss; Sonja I. Ziniel; Paul S. Appelbaum; Ellen Wright Clayton; Kurt D. Christensen; David Fasel; Robert C. Green; Heather S. Hain; Margaret Harr; Christin Hoell; Iftikhar J. Kullo; Kathleen A. Leppig; Melanie F. Myers; Joel E. Pacyna; Emma F. Perez; Cynthia A. Prows; Alanna Kulchak Rahm; Gemme Campbell-Salome; Richard R. Sharp; Maureen E. Smith; Georgia L. Wiesner; Janet L. Williams; Carrie L. Blout Zawatsky; Ali G. Gharavi; Wendy K. Chung; Ingrid A. Holm

doi:10.1002/jgc4.1511

Do research participants share genomic screening results with family members?

Julia Wynn^*, Hila Milo Rasouly, Tania Vasquez-Loarte, Akilan M. Saami, Robyn Weiss, Sonja I. Ziniel, Paul S. Appelbaum, Ellen Wright Clayton, Kurt D. Christensen, David Fasel, Robert C. Green, Heather S. Hain, Margaret Harr, Christin Hoell, Iftikhar J. Kullo, Kathleen A. Leppig, Melanie F. Myers, Joel E. Pacyna, Emma F. Perez, Cynthia A. ProwsAlanna Kulchak Rahm, Gemme Campbell-Salome, Richard R. Sharp, Maureen E. Smith, Georgia L. Wiesner, Janet L. Williams, Carrie L. Blout Zawatsky, Ali G. Gharavi, Wendy K. Chung, Ingrid A. Holm

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

14 Scopus citations

Abstract

The public health impact of genomic screening can be enhanced by cascade testing. However, cascade testing depends on communication of results to family members. While the barriers and facilitators of family communication have been researched following clinical genetic testing, the factors impacting the dissemination of genomic screening results are unknown. Using the pragmatic Electronic Medical Records and Genomics Network-3 (eMERGE-3) study, we explored the reported sharing practices of participants who underwent genomic screening across the United States. Six eMERGE-3 sites returned genomic screening results for mostly dominant medically actionable disorders and surveyed adult participants regarding communication of results with first-degree relatives. Across the sites, 279 participants completed a 1-month and/or 6-month post-results survey. By 6 months, only 34% of the 156 respondents shared their results with all first-degree relatives and 4% did not share with any. Over a third (39%) first-degree relatives were not notified of the results. Half (53%) of participants who received their results from a genetics provider shared them with all first-degree relatives compared with 11% of participants who received their results from a non-genetics provider. The most frequent reasons for sharing were a feeling of obligation (72%) and that the information could help family members make medical decisions (72%). The most common reasons indicated for not sharing were that the family members were too young (38%), or they were not in contact (25%) or not close to them (25%). These data indicate that the professional returning the results may impact sharing patterns, suggesting that there is a need to continue to educate healthcare providers regarding approaches to facilitate sharing of genetic results within families. Finally, these data suggest that interventions to increase sharing may be universally effective regardless of the origin of the genetic result.

Original language	English (US)
Pages (from-to)	447-458
Number of pages	12
Journal	Journal of Genetic Counseling
Volume	31
Issue number	2
DOIs	https://doi.org/10.1002/jgc4.1511
State	Published - Apr 2022

Funding

We would like to thank the participants in the eMERGE Network. This phase of the eMERGE Network was initiated and funded by the NHGRI through the following grants: U01HG008657 (Group Health Cooperative/University of Washington); U01HG008685 (Brigham and Women's Hospital); U01HG008672 (Vanderbilt University Medical Center); U01HG008666 (Cincinnati Children's Hospital Medical Center); U01HG006379 (Mayo Clinic); U01HG008679 (Geisinger Clinic); U01HG008680 (Columbia University Irving Medical Center); U01HG008684 (Children's Hospital of Philadelphia); U01HG008673 (Northwestern University); U01HG008701 (Vanderbilt University Medical Center serving as the Coordinating Center); U01HG008676 (Partners Healthcare/Broad Institute); U54MD007593‐10 (Meharry Medical College); and U01HG008664 (Baylor College of Medicine).

Keywords

cascade testing
communication
family
population screening
predictive genetic testing

ASJC Scopus subject areas

Genetics(clinical)

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1002/jgc4.1511

Cite this

Wynn, J., Milo Rasouly, H., Vasquez-Loarte, T., Saami, A. M., Weiss, R., Ziniel, S. I., Appelbaum, P. S., Wright Clayton, E., Christensen, K. D., Fasel, D., Green, R. C., Hain, H. S., Harr, M., Hoell, C., Kullo, I. J., Leppig, K. A., Myers, M. F., Pacyna, J. E., Perez, E. F., ... Holm, I. A. (2022). Do research participants share genomic screening results with family members? Journal of Genetic Counseling, 31(2), 447-458. https://doi.org/10.1002/jgc4.1511

@article{e35ca5fe08214c329884e1a45cde4cab,

title = "Do research participants share genomic screening results with family members?",

abstract = "The public health impact of genomic screening can be enhanced by cascade testing. However, cascade testing depends on communication of results to family members. While the barriers and facilitators of family communication have been researched following clinical genetic testing, the factors impacting the dissemination of genomic screening results are unknown. Using the pragmatic Electronic Medical Records and Genomics Network-3 (eMERGE-3) study, we explored the reported sharing practices of participants who underwent genomic screening across the United States. Six eMERGE-3 sites returned genomic screening results for mostly dominant medically actionable disorders and surveyed adult participants regarding communication of results with first-degree relatives. Across the sites, 279 participants completed a 1-month and/or 6-month post-results survey. By 6 months, only 34% of the 156 respondents shared their results with all first-degree relatives and 4% did not share with any. Over a third (39%) first-degree relatives were not notified of the results. Half (53%) of participants who received their results from a genetics provider shared them with all first-degree relatives compared with 11% of participants who received their results from a non-genetics provider. The most frequent reasons for sharing were a feeling of obligation (72%) and that the information could help family members make medical decisions (72%). The most common reasons indicated for not sharing were that the family members were too young (38%), or they were not in contact (25%) or not close to them (25%). These data indicate that the professional returning the results may impact sharing patterns, suggesting that there is a need to continue to educate healthcare providers regarding approaches to facilitate sharing of genetic results within families. Finally, these data suggest that interventions to increase sharing may be universally effective regardless of the origin of the genetic result.",

keywords = "cascade testing, communication, family, population screening, predictive genetic testing",

author = "Julia Wynn and {Milo Rasouly}, Hila and Tania Vasquez-Loarte and Saami, {Akilan M.} and Robyn Weiss and Ziniel, {Sonja I.} and Appelbaum, {Paul S.} and {Wright Clayton}, Ellen and Christensen, {Kurt D.} and David Fasel and Green, {Robert C.} and Hain, {Heather S.} and Margaret Harr and Christin Hoell and Kullo, {Iftikhar J.} and Leppig, {Kathleen A.} and Myers, {Melanie F.} and Pacyna, {Joel E.} and Perez, {Emma F.} and Prows, {Cynthia A.} and {Kulchak Rahm}, Alanna and Gemme Campbell-Salome and Sharp, {Richard R.} and Smith, {Maureen E.} and Wiesner, {Georgia L.} and Williams, {Janet L.} and {Blout Zawatsky}, {Carrie L.} and Gharavi, {Ali G.} and Chung, {Wendy K.} and Holm, {Ingrid A.}",

note = "Publisher Copyright: {\textcopyright} 2021 National Society of Genetic Counselors.",

year = "2022",

month = apr,

doi = "10.1002/jgc4.1511",

language = "English (US)",

volume = "31",

pages = "447--458",

journal = "Journal of Genetic Counseling",

issn = "1059-7700",

publisher = "Kluwer Academic/Human Sciences Press Inc.",

number = "2",

}

Wynn, J, Milo Rasouly, H, Vasquez-Loarte, T, Saami, AM, Weiss, R, Ziniel, SI, Appelbaum, PS, Wright Clayton, E, Christensen, KD, Fasel, D, Green, RC, Hain, HS, Harr, M, Hoell, C, Kullo, IJ, Leppig, KA, Myers, MF, Pacyna, JE, Perez, EF, Prows, CA, Kulchak Rahm, A, Campbell-Salome, G, Sharp, RR, Smith, ME, Wiesner, GL, Williams, JL, Blout Zawatsky, CL, Gharavi, AG, Chung, WK & Holm, IA 2022, 'Do research participants share genomic screening results with family members?', Journal of Genetic Counseling, vol. 31, no. 2, pp. 447-458. https://doi.org/10.1002/jgc4.1511