TY - JOUR
T1 - Preferences of Italian patients for return of secondary findings from clinical genome/exome sequencing
AU - Godino, Lea
AU - Varesco, Liliana
AU - Bruno, William
AU - Bruzzone, Carla
AU - Battistuzzi, Linda
AU - Franiuk, Marzena
AU - Miccoli, Sara
AU - Bertonazzi, Benedetta
AU - Graziano, Claudio
AU - Seri, Marco
AU - Turchetti, Daniela
N1 - Funding Information:
We would like to thank all participants for their cooperation with the interviews. We are also indebted to the clinical geneticists who enrolled patients in this study and helped with the interviews: G. Lanzoni, G. Rodella, M. Romagnoli, G. Severi, M.G. Tedesco, A. Tranchina, and A. Wischmeijer. B.B. was supported by a grant awarded by Italian Ministry of Health (RF‐2011‐02352088).
Publisher Copyright:
© 2020 National Society of Genetic Counselors
Copyright:
Copyright 2020 Elsevier B.V., All rights reserved.
PY - 2020
Y1 - 2020
N2 - Exome/genome sequencing (ES/GS) is increasingly becoming routine in clinical genetic diagnosis, yet issues regarding how to disclose and manage secondary findings (SFs) remain to be addressed, and limited evidence is available on patients’ preferences. We carried out semi-structured interviews with 307 individuals undergoing clinical genetic testing to explore their preferences for return of SFs in the hypothetical scenario that their test would be performed using ES/GS. Participants were 254 females (82.7%) and 53 males (17.3%), aged 18–86 years; 73.9% (81.1% of those with lower education levels) reported no prior knowledge of ES/GS. Prior knowledge of ES/GS was more common among patients tested for Mendelian conditions (34.5%), compared to those undergoing cancer genetic testing (22.3%) or carrier screening (7.4%). Despite this reported lack of knowledge, most participants (213, 69.6%) stated they would prefer to be informed of all possible results. Reasons in favor of disclosure included wanting to be aware of any risks (168; 83.6%) and to help relatives (23; 11.4%), but also hope that preventive measures might become available in the future (10, 5%). Conversely, potential negative impact on quality of life was the commonest motivation against disclosure. Among 179 participants seen for cancer genetic counseling who were interviewed again after test disclosure, 81.9% had not heard about ES/GS in the meantime; however, the proportion of participants opting for disclosure of any variants was lower (116; 64.8%), with 36 (20.1%) changing opinion compared to the first interview. Based on these findings, we conclude that genetic counseling for ES/GS should involve enhanced education and decision-making support to enable informed consent to SFs disclosure.
AB - Exome/genome sequencing (ES/GS) is increasingly becoming routine in clinical genetic diagnosis, yet issues regarding how to disclose and manage secondary findings (SFs) remain to be addressed, and limited evidence is available on patients’ preferences. We carried out semi-structured interviews with 307 individuals undergoing clinical genetic testing to explore their preferences for return of SFs in the hypothetical scenario that their test would be performed using ES/GS. Participants were 254 females (82.7%) and 53 males (17.3%), aged 18–86 years; 73.9% (81.1% of those with lower education levels) reported no prior knowledge of ES/GS. Prior knowledge of ES/GS was more common among patients tested for Mendelian conditions (34.5%), compared to those undergoing cancer genetic testing (22.3%) or carrier screening (7.4%). Despite this reported lack of knowledge, most participants (213, 69.6%) stated they would prefer to be informed of all possible results. Reasons in favor of disclosure included wanting to be aware of any risks (168; 83.6%) and to help relatives (23; 11.4%), but also hope that preventive measures might become available in the future (10, 5%). Conversely, potential negative impact on quality of life was the commonest motivation against disclosure. Among 179 participants seen for cancer genetic counseling who were interviewed again after test disclosure, 81.9% had not heard about ES/GS in the meantime; however, the proportion of participants opting for disclosure of any variants was lower (116; 64.8%), with 36 (20.1%) changing opinion compared to the first interview. Based on these findings, we conclude that genetic counseling for ES/GS should involve enhanced education and decision-making support to enable informed consent to SFs disclosure.
KW - exome sequencing
KW - genetic testing
KW - genome sequencing
KW - patient preferences
KW - result disclosure
KW - secondary findings
UR - http://www.scopus.com/inward/record.url?scp=85096713713&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85096713713&partnerID=8YFLogxK
U2 - 10.1002/jgc4.1350
DO - 10.1002/jgc4.1350
M3 - Article
AN - SCOPUS:85096713713
JO - Journal of Genetic Counseling
JF - Journal of Genetic Counseling
SN - 1059-7700
ER -