Faculty Mentor
Jill Fischer
Major/Area of Research
Genetic Counseling
Description
Whole exome sequencing (WES) is pushing its way to the forefront of genetic testing strategies amongst both adults and children with complex disease. For affected individuals that have phenotypes that do not point to a specific causative gene, or have had previous inconclusive test results, WES is proving itself to be extremely useful in a clinical setting. WES is the most comprehensive genetic testing currently available, leading to a conclusive test result for approximately 25- 30% of individuals, many of whom have had prior, inconclusive evaluations. However, since this test is new in the clinical realm, little research exists examining the psychological implications of WES, specifically decision regret. This is important to understand as the clinical utility of this testing becomes more popular. We surveyed parents of children who have undergone WES to determine whether decision regret correlated with their test result. Results demonstrated no statistically significant difference in total regret between those with a positive, negative, or uncertain result. This study indicates that type of results may be a poor predictor of decision regret amongst those undergoing whole exome sequencing, and highlights the need for future research to identify potential factors that may influence decision regret amongst these patients.
Included in
Decision Regret and Correlation with Results Amongst Parents of Children who have Undergone Whole Exome Sequencing
Whole exome sequencing (WES) is pushing its way to the forefront of genetic testing strategies amongst both adults and children with complex disease. For affected individuals that have phenotypes that do not point to a specific causative gene, or have had previous inconclusive test results, WES is proving itself to be extremely useful in a clinical setting. WES is the most comprehensive genetic testing currently available, leading to a conclusive test result for approximately 25- 30% of individuals, many of whom have had prior, inconclusive evaluations. However, since this test is new in the clinical realm, little research exists examining the psychological implications of WES, specifically decision regret. This is important to understand as the clinical utility of this testing becomes more popular. We surveyed parents of children who have undergone WES to determine whether decision regret correlated with their test result. Results demonstrated no statistically significant difference in total regret between those with a positive, negative, or uncertain result. This study indicates that type of results may be a poor predictor of decision regret amongst those undergoing whole exome sequencing, and highlights the need for future research to identify potential factors that may influence decision regret amongst these patients.