Attitudes toward preimplantation genetic testing and quality of life among individuals with hereditary diffuse gastric cancer syndrome
Abstract Background Hereditary Diffuse Gastric Cancer (HDGC) syndrome is an autosomal dominant hereditary cancer predisposition associated with germline pathogenic/likely pathogenic variants in the CDH1 gene. Identifying early stage HDGC is difficult, and prophylactic measures can be effective in pr...
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| Format: | Article |
| Language: | English |
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BMC
2022-09-01
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| Series: | Hereditary Cancer in Clinical Practice |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13053-022-00239-9 |
| _version_ | 1811274810102120448 |
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| author | Ibrahim H. Shah Erin E. Salo-Mullen Kimberly A. Amoroso David Kelsen Zsofia K. Stadler Jada G. Hamilton |
| author_facet | Ibrahim H. Shah Erin E. Salo-Mullen Kimberly A. Amoroso David Kelsen Zsofia K. Stadler Jada G. Hamilton |
| author_sort | Ibrahim H. Shah |
| collection | DOAJ |
| description | Abstract Background Hereditary Diffuse Gastric Cancer (HDGC) syndrome is an autosomal dominant hereditary cancer predisposition associated with germline pathogenic/likely pathogenic variants in the CDH1 gene. Identifying early stage HDGC is difficult, and prophylactic measures can be effective in preventing incidence. Preimplantation Genetic Testing (PGT) can provide information about CDH1 variant status, HDGC risk, and limit familial transmission of CDH1 variants. To date, however, little is known about the attitudes of individuals with CDH1 variants towards PGT. Methods Given that little is known about the reproductive attitudes of individuals with HDGC, we recruited participants with CDH1 variants from a familial gastric cancer registry and administered a cross-sectional survey with open- and closed-ended response items. We assessed attitudes regarding PGT and the effect of HDGC on quality of life. Results Participants (n = 21) were predominantly partnered (61.9%), had a personal cancer history (71.4%), and had biological children (71.4%). Interest in learning about PGT was high; 66.7% of participants were interested in PGT and 90.5% approved of healthcare providers discussing PGT with individuals with CDH1 variants. Attitudes regarding personal use were varied. Among all participants, 35% would not, 25% were uncertain, and 40% would use PGT. Personal philosophy and preferences for family and reproduction were key factors related to PGT attitudes. HDGC had moderate effects on participants’ quality of life, including social relationships, health behaviors, and emotional experiences including worry about cancer risk and guilt regarding familial implications. Conclusion PGT was identified by participants as acceptable for use in a variety of contexts and benefits of reproductive counseling involving PGT may extend beyond CDH1 carriers to family members’ reproductive behaviors. Dispositions towards PGT are governed by personal philosophy or belief systems. These findings can help guide providers counseling individuals with CDH1 variants. |
| first_indexed | 2024-04-12T23:25:56Z |
| format | Article |
| id | doaj.art-3df962fecde84c6889a85a5aec70e76a |
| institution | Directory Open Access Journal |
| issn | 1897-4287 |
| language | English |
| last_indexed | 2024-04-12T23:25:56Z |
| publishDate | 2022-09-01 |
| publisher | BMC |
| record_format | Article |
| series | Hereditary Cancer in Clinical Practice |
| spelling | doaj.art-3df962fecde84c6889a85a5aec70e76a2022-12-22T03:12:24ZengBMCHereditary Cancer in Clinical Practice1897-42872022-09-0120111310.1186/s13053-022-00239-9Attitudes toward preimplantation genetic testing and quality of life among individuals with hereditary diffuse gastric cancer syndromeIbrahim H. Shah0Erin E. Salo-Mullen1Kimberly A. Amoroso2David Kelsen3Zsofia K. Stadler4Jada G. Hamilton5Department of Psychiatry & Behavioral Sciences, Memorial Sloan Kettering Cancer CenterDepartment of Medicine, Memorial Sloan Kettering Cancer CenterDepartment of Medicine, Memorial Sloan Kettering Cancer CenterDepartment of Medicine, Memorial Sloan Kettering Cancer CenterDepartment of Medicine, Memorial Sloan Kettering Cancer CenterDepartment of Psychiatry & Behavioral Sciences, Memorial Sloan Kettering Cancer CenterAbstract Background Hereditary Diffuse Gastric Cancer (HDGC) syndrome is an autosomal dominant hereditary cancer predisposition associated with germline pathogenic/likely pathogenic variants in the CDH1 gene. Identifying early stage HDGC is difficult, and prophylactic measures can be effective in preventing incidence. Preimplantation Genetic Testing (PGT) can provide information about CDH1 variant status, HDGC risk, and limit familial transmission of CDH1 variants. To date, however, little is known about the attitudes of individuals with CDH1 variants towards PGT. Methods Given that little is known about the reproductive attitudes of individuals with HDGC, we recruited participants with CDH1 variants from a familial gastric cancer registry and administered a cross-sectional survey with open- and closed-ended response items. We assessed attitudes regarding PGT and the effect of HDGC on quality of life. Results Participants (n = 21) were predominantly partnered (61.9%), had a personal cancer history (71.4%), and had biological children (71.4%). Interest in learning about PGT was high; 66.7% of participants were interested in PGT and 90.5% approved of healthcare providers discussing PGT with individuals with CDH1 variants. Attitudes regarding personal use were varied. Among all participants, 35% would not, 25% were uncertain, and 40% would use PGT. Personal philosophy and preferences for family and reproduction were key factors related to PGT attitudes. HDGC had moderate effects on participants’ quality of life, including social relationships, health behaviors, and emotional experiences including worry about cancer risk and guilt regarding familial implications. Conclusion PGT was identified by participants as acceptable for use in a variety of contexts and benefits of reproductive counseling involving PGT may extend beyond CDH1 carriers to family members’ reproductive behaviors. Dispositions towards PGT are governed by personal philosophy or belief systems. These findings can help guide providers counseling individuals with CDH1 variants.https://doi.org/10.1186/s13053-022-00239-9CancerInherited cancer syndromeReproductionPreimplantation genetic testingRisk |
| spellingShingle | Ibrahim H. Shah Erin E. Salo-Mullen Kimberly A. Amoroso David Kelsen Zsofia K. Stadler Jada G. Hamilton Attitudes toward preimplantation genetic testing and quality of life among individuals with hereditary diffuse gastric cancer syndrome Hereditary Cancer in Clinical Practice Cancer Inherited cancer syndrome Reproduction Preimplantation genetic testing Risk |
| title | Attitudes toward preimplantation genetic testing and quality of life among individuals with hereditary diffuse gastric cancer syndrome |
| title_full | Attitudes toward preimplantation genetic testing and quality of life among individuals with hereditary diffuse gastric cancer syndrome |
| title_fullStr | Attitudes toward preimplantation genetic testing and quality of life among individuals with hereditary diffuse gastric cancer syndrome |
| title_full_unstemmed | Attitudes toward preimplantation genetic testing and quality of life among individuals with hereditary diffuse gastric cancer syndrome |
| title_short | Attitudes toward preimplantation genetic testing and quality of life among individuals with hereditary diffuse gastric cancer syndrome |
| title_sort | attitudes toward preimplantation genetic testing and quality of life among individuals with hereditary diffuse gastric cancer syndrome |
| topic | Cancer Inherited cancer syndrome Reproduction Preimplantation genetic testing Risk |
| url | https://doi.org/10.1186/s13053-022-00239-9 |
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