Event Title
Understanding the psychological impact of pediatric whole exome sequencing results on parents
Faculty Mentor
Ashley Mills
Major/Area of Research
Genetic Counseling
Description
The field of genetics and genomics is continuing to expand as technology becomes more accessible in a clinical setting. The use of whole exome sequencing (WES) has rapidly increased and many individuals now have diagnoses that would not have been made, or made as quickly, through traditional forms of genetic testing. WES has proven to produce a high diagnostic yield, and has led to the discovery of new pathogenic mutations, which can potentially identify novel genetic conditions. Although WES has ended the diagnostic odyssey for many individuals, little research has been conducted examining the psychosocial outcomes for individuals and their families undergoing WES. Much research has focused on the psychological outcomes of predictive genetic testing; however, diagnostic testing differs in many aspects. There are many factors that contribute to the psychological impact of WES, including uncertainty. Parents of children who underwent WES testing at Columbia University Medical Center were contacted for potential enrollment and participants were asked to complete a survey. It is important to understand how individuals and families undergoing WES respond to their test results and the uncertainty that may go along with it. This study aims to examine the degree of uncertainty experienced by parents of children undergoing WES, and thus the psychological impact of the test by examining a MICRA questionnaire. Analysis is pending. By understanding the psychological impact of WES, genetic counselors and other health professionals can adjust (or adapt) their pre-test counseling to help families have a positive experience with testing.
Included in
Understanding the psychological impact of pediatric whole exome sequencing results on parents
The field of genetics and genomics is continuing to expand as technology becomes more accessible in a clinical setting. The use of whole exome sequencing (WES) has rapidly increased and many individuals now have diagnoses that would not have been made, or made as quickly, through traditional forms of genetic testing. WES has proven to produce a high diagnostic yield, and has led to the discovery of new pathogenic mutations, which can potentially identify novel genetic conditions. Although WES has ended the diagnostic odyssey for many individuals, little research has been conducted examining the psychosocial outcomes for individuals and their families undergoing WES. Much research has focused on the psychological outcomes of predictive genetic testing; however, diagnostic testing differs in many aspects. There are many factors that contribute to the psychological impact of WES, including uncertainty. Parents of children who underwent WES testing at Columbia University Medical Center were contacted for potential enrollment and participants were asked to complete a survey. It is important to understand how individuals and families undergoing WES respond to their test results and the uncertainty that may go along with it. This study aims to examine the degree of uncertainty experienced by parents of children undergoing WES, and thus the psychological impact of the test by examining a MICRA questionnaire. Analysis is pending. By understanding the psychological impact of WES, genetic counselors and other health professionals can adjust (or adapt) their pre-test counseling to help families have a positive experience with testing.