:The Impact of the variant of Uncertain Significance on The Genetic Counseling Process and The Preventative Reproductive options: Genetic Counselor's and Families Perspectives in Saudi Arabia Lojain Abdullah Alsini
©2022Description: 61 pages.Content type: text Media type: unmediated Carrier type: volumeGenre/Form: Print books.Summary: Advanced molecular genetic testing such as whole-exome sequencing (WES) can identify a type of variant Known as a variant of uncertain significance (VUS). This uncertain variant can be challenging For both genetic counselors and their patients. Especially those patients who are seeking preventative reproductive options for their future pregnancies such as prenatal diagnosis (PND) and pre-implantation genetic diagnosis(PGD). The purpose of this study is to address the genetic counselor's challenges in discussing VUS results. Also, to report the impact of VUS on the patient's knowledge, psychosocial, and future reproductive plans, to report the patient's satisfaction with the genetic counseling service. The main result found from this study is that one of the challenges genetic counselors encountered when they counseled patients with uncertain results is their need for time to discuss about the VUS result with their patients. As for the patient participants about half of them recalled their VUS result correctly and most of the patient participants in this study felt anxious, confused, and frustrated after they received their VUS results. In conclusion, Genetic counseling is important for patients/families opting for PGD or PND anxiety, fear, frustration, and acceptance are not uncommon reactions to uncertain results(as reported in other studies.| Current location | Call number | Status | Date due | Barcode | Item holds |
|---|---|---|---|---|---|
| Reference | AU .Thesis 0000000002 (Browse shelf) | Not for loan | AU00000000018298 |
Advanced molecular genetic testing such as whole-exome sequencing (WES) can identify a type of variant Known as a variant of uncertain significance (VUS). This uncertain variant can be challenging For both genetic counselors and their patients. Especially those patients who are seeking preventative reproductive options for their future pregnancies such as prenatal diagnosis (PND) and pre-implantation genetic diagnosis(PGD).
The purpose of this study is to address the genetic counselor's challenges in discussing VUS results. Also, to report the impact of VUS on the patient's knowledge, psychosocial, and future reproductive plans, to report the patient's satisfaction with the genetic counseling service.
The main result found from this study is that one of the challenges genetic counselors encountered when they counseled patients with uncertain results is their need for time to discuss about the VUS result with their patients. As for the patient participants about half of them recalled their VUS result correctly and most of the patient participants in this study felt anxious, confused, and frustrated after they received their VUS results.
In conclusion, Genetic counseling is important for patients/families opting for PGD or PND anxiety, fear, frustration, and acceptance are not uncommon reactions to uncertain results(as reported in other studies.
Advanced molecular genetic testing such as whole-exome sequencing (WES) can identify a type of variant Known as a variant of uncertain significance (VUS). This uncertain variant can be challenging For both genetic counselors and their patients. Especially those patients who are seeking preventative reproductive options for their future pregnancies such as prenatal diagnosis (PND) and pre-implantation genetic diagnosis(PGD).
The purpose of this study is to address the genetic counselor's challenges in discussing VUS results. Also, to report the impact of VUS on the patient's knowledge, psychosocial, and future reproductive plans, to report the patient's satisfaction with the genetic counseling service.
The main result found from this study is that one of the challenges genetic counselors encountered when they counseled patients with uncertain results is their need for time to discuss about the VUS result with their patients. As for the patient participants about half of them recalled their VUS result correctly and most of the patient participants in this study felt anxious, confused, and frustrated after they received their VUS results.
In conclusion, Genetic counseling is important for patients/families opting for PGD or PND anxiety, fear, frustration, and acceptance are not uncommon reactions to uncertain results(as reported in other studies.