A Cross-sectional Study of Regret in Cancer Patients After Sharing Test Results for Pathogenic Germline Variants of Hereditary Cancers With Relatives

Background Research on whole genome/exome sequencing is increasing worldwide. However, challenges are emerging in relation to receiving germline pathogenic variant results and sharing them with relatives.The aim of this study was to investigate the occurrence of and reasoning related to regret among patients with cancer who shared single-gene testing results and whole exome sequencing with family members.This was a single-center, cross-sectional study. The Decision Regret Scale was administered, and descriptive questionnaires were used with 21 patients with cancer.Eight patients were classified as having no regret, 9 patients were classified as having mild regret, and 4 patients were classified as having moderate to strong regret. Reasons patients felt that sharing was the right decision included the following: to allow relatives and children to take preventive measures, the need for both parties to be aware of and ready for the hereditary transmission of cancer, and the need to be able to discuss the situation with others. On the other hand, some patients did not think it was a good decision to share the information because of the associated anxiety.Regret over sharing test results for pathogenic germline variants of hereditary cancers with relatives tended to be low. The main reason was that patients believed that they were able to benefit others by sharing.Healthcare professionals need to understand the postsharing perceptions and experiences of patients and support them throughout the sharing process.The detection of pathogenic germline variants (PGVs) in hereditary cancers can impact treatment choice, whether prophylactic resection is performed, and proactive cancer prevention and early detection in the patient's relatives. When the relatives of a patient with hereditary cancer are similarly diagnosed, ethical and psychosocial issues can emerge.1-3 Historically, PGV detection was dominated by single-gene testing; however, recent advances in next-generation sequencing technology have made it possible to examine multiple genes simultaneously. Research-based comprehensive genetic testing, including whole genome/exome sequencing (WGS/WES), is gaining global popularity; however, the high likelihood of receiving unexpected results is provoking debate.4-9 The American College of Medical Genetics and Genomics recommended in 201310 that genetic variants found incidentally or by chance be reported and, in 2016,11 revised the terminology to "secondary findings" to represent intentionally analyzed genes. Individuals undergoing clinical genome sequencing can also opt out of receiving secondary findings. Since 2021,12 studies have reported mixed desires for results among patients and families in the United States, Europe, and Canada.Existing studies on sharing results with relatives have been conducted mainly in Europe and the United States. Those on the psychological impact of receiving results have involved people with or without cancer undergoing single-gene testing; they report that participants did not regret receiving the results13 and that their psychological burden increased after receiving them but eventually returned to baseline.14,15 Few studies include patients who underwent WGS/WES16-19 and patients with cancer harboring PGVs. The current study addresses these gaps by including patients who underwent genetic testing, including WES, and received PGV results. Specifically, this study investigated whether Japanese patients with hereditary cancer regretted sharing their single-gene testing and WES PGV results as well as the reasons behind such regret. The findings offer implications for nursing care.Background Research on whole genome/exome sequencing is increasing worldwide. However, challenges are emerging in relation to receiving germline pathogenic variant results and sharing them with relatives.The aim of this study was to investigate the occurrence of and reasoning related to regret among patients with cancer who shared single-gene testing results and whole exome sequencing with family members.This was a single-center, cross-sectional study. The Decision Regret Scale was administered, and descriptive questionnaires were used with 21 patients with cancer.Eight patients were classified as having no regret, 9 patients were classified as having mild regret, and 4 patients were classified as having moderate to strong regret. Reasons patients felt that sharing was the right decision included the following: to allow relatives and children to take preventive measures, the need for both parties to be aware of and ready for the hereditary transmission of cancer, and the need to be able to discuss the situation with others. On the other hand, some patients did not think it was a good decision to share the information because of the associated anxiety.Regret over sharing test results for pathogenic germline variants of hereditary cancers with relatives tended to be low. The main reason was that patients believed that they were able to benefit others by sharing.Healthcare professionals need to understand the postsharing perceptions and experiences of patients and support them throughout the sharing process.The detection of pathogenic germline variants (PGVs) in hereditary cancers can impact treatment choice, whether prophylactic resection is performed, and proactive cancer prevention and early detection in the patient's relatives. When the relatives of a patient with hereditary cancer are similarly diagnosed, ethical and psychosocial issues can emerge.1-3 Historically, PGV detection was dominated by single-gene testing; however, recent advances in next-generation sequencing technology have made it possible to examine multiple genes simultaneously. Research-based comprehensive genetic testing, including whole genome/exome sequencing (WGS/WES), is gaining global popularity; however, the high likelihood of receiving unexpected results is provoking debate.4-9 The American College of Medical Genetics and Genomics recommended in 201310 that genetic variants found incidentally or by chance be reported and, in 2016,11 revised the terminology to "secondary findings" to represent intentionally analyzed genes. Individuals undergoing clinical genome sequencing can also opt out of receiving secondary findings. Since 2021,12 studies have reported mixed desires for results among patients and families in the United States, Europe, and Canada.Existing studies on sharing results with relatives have been conducted mainly in Europe and the United States. Those on the psychological impact of receiving results have involved people with or without cancer undergoing single-gene testing; they report that participants did not regret receiving the results13 and that their psychological burden increased after receiving them but eventually returned to baseline.14,15 Few studies include patients who underwent WGS/WES16-19 and patients with cancer harboring PGVs. The current study addresses these gaps by including patients who underwent genetic testing, including WES, and received PGV results. Specifically, this study investigated whether Japanese patients with hereditary cancer regretted sharing their single-gene testing and WES PGV results as well as the reasons behind such regret. The findings offer implications for nursing care.Background Research on whole genome/exome sequencing is increasing worldwide. However, challenges are emerging in relation to receiving germline pathogenic variant results and sharing them with relatives.The aim of this study was to investigate the occurrence of and reasoning related to regret among patients with cancer who shared single-gene testing results and whole exome sequencing with family members.This was a single-center, cross-sectional study. The Decision Regret Scale was administered, and descriptive questionnaires were used with 21 patients with cancer.Eight patients were classified as having no regret, 9 patients were classified as having mild regret, and 4 patients were classified as having moderate to strong regret. Reasons patients felt that sharing was the right decision included the following: to allow relatives and children to take preventive measures, the need for both parties to be aware of and ready for the hereditary transmission of cancer, and the need to be able to discuss the situation with others. On the other hand, some patients did not think it was a good decision to share the information because of the associated anxiety.Regret over sharing test results for pathogenic germline variants of hereditary cancers with relatives tended to be low. The main reason was that patients believed that they were able to benefit others by sharing.Healthcare professionals need to understand the postsharing perceptions and experiences of patients and support them throughout the sharing process.The detection of pathogenic germline variants (PGVs) in hereditary cancers can impact treatment choice, whether prophylactic resection is performed, and proactive cancer prevention and early detection in the patient's relatives. When the relatives of a patient with hereditary cancer are similarly diagnosed, ethical and psychosocial issues can emerge.1-3 Historically, PGV detection was dominated by single-gene testing; however, recent advances in next-generation sequencing technology have made it possible to examine multiple genes simultaneously. Research-based comprehensive genetic testing, including whole genome/exome sequencing (WGS/WES), is gaining global popularity; however, the high likelihood of receiving unexpected results is provoking debate.4-9 The American College of Medical Genetics and Genomics recommended in 201310 that genetic variants found incidentally or by chance be reported and, in 2016,11 revised the terminology to "secondary findings" to represent intentionally analyzed genes. Individuals undergoing clinical genome sequencing can also opt out of receiving secondary findings. Since 2021,12 studies have reported mixed desires for results among patients and families in the United States, Europe, and Canada.Existing studies on sharing results with relatives have been conducted mainly in Europe and the United States. Those on the psychological impact of receiving results have involved people with or without cancer undergoing single-gene testing; they report that participants did not regret receiving the results13 and that their psychological burden increased after receiving them but eventually returned to baseline. 14,15 Few studies include patients who underwent WGS/WES16-19 and patients with cancer harboring PGVs. The current study addresses these gaps by including patients who underwent genetic testing, including WES, and received PGV results. Specifically, this study investigated whether Japanese patients with hereditary cancer regretted sharing their single-gene testing and WES PGV results as well as the reasons behind such regret. The findings offer implications for nursing care.Background Research on whole genome/exome sequencing is increasing worldwide. However, challenges are emerging in relation to receiving germline pathogenic variant results and sharing them with relatives.The aim of this study was to investigate the occurrence of and reasoning related to regret among patients with cancer who shared single-gene testing results and whole exome sequencing with family members.This was a single-center, cross-sectional study. The Decision Regret Scale was administered, and descriptive questionnaires were used with 21 patients with cancer.Eight patients were classified as having no regret, 9 patients were classified as having mild regret, and 4 patients were classified as having moderate to strong regret. Reasons patients felt that sharing was the right decision included the following: to allow relatives and children to take preventive measures, the need for both parties to be aware of and ready for the hereditary transmission of cancer, and the need to be able to discuss the situation with others. On the other hand, some patients did not think it was a good decision to share the information because of the associated anxiety.Regret over sharing test results for pathogenic germline variants of hereditary cancers with relatives tended to be low. The main reason was that patients believed that they were able to benefit others by sharing.Healthcare professionals need to understand the postsharing perceptions and experiences of patients and support them throughout the sharing process.The detection of pathogenic germline variants (PGVs) in hereditary cancers can impact treatment choice, whether prophylactic resection is performed, and proactive cancer prevention and early detection in the patient's relatives. When the relatives of a patient with hereditary cancer are similarly diagnosed, ethical and psychosocial issues can emerge.1-3 Historically, PGV detection was dominated by single-gene testing; however, recent advances in next-generation sequencing technology have made it possible to examine multiple genes simultaneously. Research-based comprehensive genetic testing, including whole genome/exome sequencing (WGS/WES), is gaining global popularity; however, the high likelihood of receiving unexpected results is provoking debate.4-9 The American College of Medical Genetics and Genomics recommended in 201310 that genetic variants found incidentally or by chance be reported and, in 2016,11 revised the terminology to "secondary findings" to represent intentionally analyzed genes. Individuals undergoing clinical genome sequencing can also opt out of receiving secondary findings. Since 2021,12 studies have reported mixed desires for results among patients and families in the United States, Europe, and Canada.Existing studies on sharing results with relatives have been conducted mainly in Europe and the United States. Those on the psychological impact of receiving results have involved people with or without cancer undergoing single-gene testing; they report that participants did not regret receiving the results13 and that their psychological burden increased after receiving them but eventually returned to baseline.14,15 Few studies include patients who underwent WGS/WES16-19 and patients with cancer harboring PGVs. The current study addresses these gaps by including patients who underwent genetic testing, including WES, and received PGV results. Specifically, this study investigated whether Japanese patients with hereditary cancer regretted sharing their single-gene testing and WES PGV results as well as the reasons behind such regret. The findings offer implications for nursing care.Background Research on whole genome/exome sequencing is increasing worldwide. However, challenges are emerging in relation to receiving germline pathogenic variant results and sharing them with relatives.The aim of this study was to investigate the occurrence of and reasoning related to regret among patients with cancer who shared single-gene testing results and whole exome sequencing with family members.This was a single-center, cross-sectional study. The Decision Regret Scale was administered, and descriptive questionnaires were used with 21 patients with cancer.Eight patients were classified as having no regret, 9 patients were classified as having mild regret, and 4 patients were classified as having moderate to strong regret. Reasons patients felt that sharing was the right decision included the following: to allow relatives and children to take preventive measures, the need for both parties to be aware of and ready for the hereditary transmission of cancer, and the need to be able to discuss the situation with others. On the other hand, some patients did not think it was a good decision to share the information because of the associated anxiety.Regret over sharing test results for pathogenic germline variants of hereditary cancers with relatives tended to be low. The main reason was that patients believed that they were able to benefit others by sharing.Healthcare professionals need to understand the postsharing perceptions and experiences of patients and support them throughout the sharing process.The detection of pathogenic germline variants (PGVs) in hereditary cancers can impact treatment choice, whether prophylactic resection is performed, and proactive cancer prevention and early detection in the patient's relatives. When the relatives of a patient with hereditary cancer are similarly diagnosed, ethical and psychosocial issues can emerge.1-3 Historically, PGV detection was dominated by single-gene testing; however, recent advances in next-generation sequencing technology have made it possible to examine multiple genes simultaneously. Research-based comprehensive genetic testing, including whole genome/exome sequencing (WGS/WES), is gaining global popularity; however, the high likelihood of receiving unexpected results is provoking debate.4-9 The American College of Medical Genetics and Genomics recommended in 201310 that genetic variants found incidentally or by chance be reported and, in 2016,11 revised the terminology to "secondary findings" to represent intentionally analyzed genes. Individuals undergoing clinical genome sequencing can also opt out of receiving secondary findings. Since 2021,12 studies have reported mixed desires for results among patients and families in the United States, Europe, and Canada. Existing studies on sharing results with relatives have been conducted mainly in Europe and the United States. Those on the psychological impact of receiving results have involved people with or without cancer undergoing single-gene testing; they report that participants did not regret receiving the results13 and that their psychological burden increased after receiving them but eventually returned to baseline.14,15 Few studies include patients who underwent WGS/WES16-19 and patients with cancer harboring PGVs. The current study addresses these gaps by including patients who underwent genetic testing, including WES, and received PGV results. Specifically, this study investigated whether Japanese patients with hereditary cancer regretted sharing their single-gene testing and WES PGV results as well as the reasons behind such regret. The findings offer implications for nursing care.Background Research on whole genome/exome sequencing is increasing worldwide. However, challenges are emerging in relation to receiving germline pathogenic variant results and sharing them with relatives.The aim of this study was to investigate the occurrence of and reasoning related to regret among patients with cancer who shared single-gene testing results and whole exome sequencing with family members.This was a single-center, cross-sectional study. The Decision Regret Scale was administered, and descriptive questionnaires were used with 21 patients with cancer.Eight patients were classified as having no regret, 9 patients were classified as having mild regret, and 4 patients were classified as having moderate to strong regret. Reasons patients felt that sharing was the right decision included the following: to allow relatives and children to take preventive measures, the need for both parties to be aware of and ready for the hereditary transmission of cancer, and the need to be able to discuss the situation with others. On the other hand, some patients did not think it was a good decision to share the information because of the associated anxiety.Regret over sharing test results for pathogenic germline variants of hereditary cancers with relatives tended to be low. The main reason was that patients believed that they were able to benefit others by sharing.Healthcare professionals need to understand the postsharing perceptions and experiences of patients and support them throughout the sharing process.The detection of pathogenic germline variants (PGVs) in hereditary cancers can impact treatment choice, whether prophylactic resection is performed, and proactive cancer prevention and early detection in the patient's relatives. When the relatives of a patient with hereditary cancer are similarly diagnosed, ethical and psychosocial issues can emerge.1-3 Historically, PGV detection was dominated by single-gene testing; however, recent advances in next-generation sequencing technology have made it possible to examine multiple genes simultaneously. Research-based comprehensive genetic testing, including whole genome/exome sequencing (WGS/WES), is gaining global popularity; however, the high likelihood of receiving unexpected results is provoking debate.4-9 The American College of Medical Genetics and Genomics recommended in 201310 that genetic variants found incidentally or by chance be reported and, in 2016,11 revised the terminology to "secondary findings" to represent intentionally analyzed genes. Individuals undergoing clinical genome sequencing can also opt out of receiving secondary findings. Since 2021,12 studies have reported mixed desires for results among patients and families in the United States, Europe, and Canada.Existing studies on sharing results with relatives have been conducted mainly in Europe and the United States. Those on the psychological impact of receiving results have involved people with or without cancer undergoing single-gene testing; they report that participants did not regret receiving the results13 and that their psychological burden increased after receiving them but eventually returned to baseline.14,15 Few studies include patients who underwent WGS/WES16-19 and patients with cancer harboring PGVs. The current study addresses these gaps by including patients who underwent genetic testing, including WES, and received PGV results. Specifically, this study investigated whether Japanese patients with hereditary cancer regretted sharing their single-gene testing and WES PGV results as well as the reasons behind such regret. The findings offer implications for nursing care.Background Research on whole genome/exome sequencing is increasing worldwide. However, challenges are emerging in relation to receiving germline pathogenic variant results and sharing them with relatives.The aim of this study was to investigate the occurrence of and reasoning related to regret among patients with cancer who shared single-gene testing results and whole exome sequencing with family members.This was a single-center, cross-sectional study. The Decision Regret Scale was administered, and descriptive questionnaires were used with 21 patients with cancer.Eight patients were classified as having no regret, 9 patients were classified as having mild regret, and 4 patients were classified as having moderate to strong regret. Reasons patients felt that sharing was the right decision included the following: to allow relatives and children to take preventive measures, the need for both parties to be aware of and ready for the hereditary transmission of cancer, and the need to be able to discuss the situation with others. On the other hand, some patients did not think it was a good decision to share the information because of the associated anxiety.Regret over sharing test results for pathogenic germline variants of hereditary cancers with relatives tended to be low. The main reason was that patients believed that they were able to benefit others by sharing.Healthcare professionals need to understand the postsharing perceptions and experiences of patients and support them throughout the sharing process.The detection of pathogenic germline variants (PGVs) in hereditary cancers can impact treatment choice, whether prophylactic resection is performed, and proactive cancer prevention and early detection in the patient's relatives. When the relatives of a patient with hereditary cancer are similarly diagnosed, ethical and psychosocial issues can emerge.1-3 Historically, PGV detection was dominated by single-gene testing; however, recent advances in next-generation sequencing technology have made it possible to examine multiple genes simultaneously. Research-based comprehensive genetic testing, including whole genome/exome sequencing (WGS/WES), is gaining global popularity; however, the high likelihood of receiving unexpected results is provoking debate.4-9 The American College of Medical Genetics and Genomics recommended in 201310 that genetic variants found incidentally or by chance be reported and, in 2016,11 revised the terminology to "secondary findings" to represent intentionally analyzed genes. Individuals undergoing clinical genome sequencing can also opt out of receiving secondary findings. Since 2021,12 studies have reported mixed desires for results among patients and families in the United States, Europe, and Canada.Existing studies on sharing results with relatives have been conducted mainly in Europe and the United States. Those on the psychological impact of receiving results have involved people with or without cancer undergoing single-gene testing; they report that participants did not regret receiving the results13 and that their psychological burden increased after receiving them but eventually returned to baseline.14,15 Few studies include patients who underwent WGS/WES16-19 and patients with cancer harboring PGVs. The current study addresses these gaps by including patients who underwent genetic testing, including WES, and received PGV results. Specifically, this study investigated whether Japanese patients with hereditary cancer regretted sharing their single-gene testing and WES PGV results as well as the reasons behind such regret. The findings offer implications for nursing care.Background Research on whole genome/exome sequencing is increasing worldwide. However, challenges are emerging in relation to receiving germline pathogenic variant results and sharing them with relatives.The aim of this study was to investigate the occurrence of and reasoning related to regret among patients with cancer who shared single-gene testing results and whole exome sequencing with family members.This was a single-center, cross-sectional study. The Decision Regret Scale was administered, and descriptive questionnaires were used with 21 patients with cancer.Eight patients were classified as having no regret, 9 patients were classified as having mild regret, and 4 patients were classified as having moderate to strong regret. Reasons patients felt that sharing was the right decision included the following: to allow relatives and children to take preventive measures, the need for both parties to be aware of and ready for the hereditary transmission of cancer, and the need to be able to discuss the situation with others. On the other hand, some patients did not think it was a good decision to share the information because of the associated anxiety.Regret over sharing test results for pathogenic germline variants of hereditary cancers with relatives tended to be low. The main reason was that patients believed that they were able to benefit others by sharing.Healthcare professionals need to understand the postsharing perceptions and experiences of patients and support them throughout the sharing process.The detection of pathogenic germline variants (PGVs) in hereditary cancers can impact treatment choice, whether prophylactic resection is performed, and proactive cancer prevention and early detection in the patient's relatives. When the relatives of a patient with hereditary cancer are similarly diagnosed, ethical and psychosocial issues can emerge.1-3 Historically, PGV detection was dominated by single-gene testing; however, recent advances in next-generation sequencing technology have made it possible to examine multiple genes simultaneously. Research-based comprehensive genetic testing, including whole genome/exome sequencing (WGS/WES), is gaining global popularity; however, the high likelihood of receiving unexpected results is provoking debate. 4-9 The American College of Medical Genetics and Genomics recommended in 201310 that genetic variants found incidentally or by chance be reported and, in 2016,11 revised the terminology to "secondary findings" to represent intentionally analyzed genes. Individuals undergoing clinical genome sequencing can also opt out of receiving secondary findings. Since 2021,12 studies have reported mixed desires for results among patients and families in the United States, Europe, and Canada.Existing studies on sharing results with relatives have been conducted mainly in Europe and the United States. Those on the psychological impact of receiving results have involved people with or without cancer undergoing single-gene testing; they report that participants did not regret receiving the results13 and that their psychological burden increased after receiving them but eventually returned to baseline.14,15 Few studies include patients who underwent WGS/WES16-19 and patients with cancer harboring PGVs. The current study addresses these gaps by including patients who underwent genetic testing, including WES, and received PGV results. Specifically, this study investigated whether Japanese patients with hereditary cancer regretted sharing their single-gene testing and WES PGV results as well as the reasons behind such regret. The findings offer implications for nursing care.