Full Record

New Search | Similar Records

Author
Title Parental Experiences When CMA is Ordered by a Geneticist vs. Non-geneticist
URL
Publication Date
Degree MS
Discipline/Department Medicine: Genetic Counseling
Degree Level masters
University/Publisher University of Cincinnati
Abstract Chromosomal microarray analysis (CMA) is currently the first-tier diagnostic test recommended for children with undiagnosed intellectual disabilities. Long ordered by geneticists, CMAs are now increasingly being ordered by non-geneticist providers. This study explores parents’ understanding and emotions during the process of ordering CMA by geneticists and non-geneticists, and parents’ subsequent ability to derive utility from results. Twenty-two parents of children who underwent CMA testing participated in semi-structured interviews oriented around the domains of parental understanding, perceived utility, and affective response. Transcribed interviews were analyzed using inductive and deductive coding. Themes were explored for patterns, similarities, and differences between geneticist versus non-geneticist providers, as well as among those who received positive, negative, or variant of uncertain clinical significance (VUCS) results. We found that all parents of children with VUCS or pathogenic results received post-test counseling, but no parents of children with normal CMA results received post-test counseling. Nearly all parents reported that written resources and advice about online research was valuable, and this support was more likely to have been offered by genetics providers such as geneticists and genetic counselors rather than non-geneticist providers. Parents’ perceived utility of CMA results included having an answer or name for their child’s condition, providing information about reproductive risks and options, shaping expectations for the future, guiding their child’s medical management, and helping parents explain the condition to others. Emotions expressed by parents in relation to genetic testing included anxiety, frustration, guilt, relief, and hope. Nearly all parents reported anxiety while waiting for test results. Frustration was mostly expressed in relation to communicating with providers, particularly in trying to obtain their child’s test results. The results from this study provide important insights into parental experiences with CMA testing, and highlight the ongoing need for providers from all disciplines to be aware of challenges including communication issues and the presence of strong emotions during the genetic testing process.
Subjects/Keywords Genetics; chromosomal microarray; parental experience; intellectual disability; developmental delay; diagnostic odyssey; genetic counseling
Contributors Myers, Melanie (Committee Chair)
Language en
Rights unrestricted ; This thesis or dissertation is protected by copyright: all rights reserved. It may not be copied or redistributed beyond the terms of applicable copyright laws.
Country of Publication us
Format application/pdf
Record ID oai:etd.ohiolink.edu:ucin1491305824301482
Repository ohiolink
Date Indexed 2020-10-19
Grantor University of Cincinnati

Sample Search Hits | Sample Images | Cited Works

…Indications for CMA testing Developmental delay Congenital hypotonia Intellectual disability Seizure disorder Short stature Abnormal shaped skull Attention Deficit Hyperactivity Disorder Anxiety Autism Spectrum Disorder Cerebral ventriculomegaly Cleft palate…

…INTRODUCTION In one-third to one-half of children with intellectual disability (ID), the cause is unknown (Graungaard & Skov, 2007; Makela et al., 2009). The currently recommended first-tier diagnostic test for children with…

…undiagnosed intellectual disabilities is chromosomal microarray analysis (CMA) (Manning et al., 2010; Miller et al., 2010; Reiff et al., 2012). This genetic test looks at an individual’s entire genome to detect chromosomal abnormalities…

…study, all parents of children with intellectual disability expressed interest in finding an etiological diagnosis, with most expressing the use of diagnosis as validation or proof of a credible problem (Makela et al., 2009). A more recent…

…Cognitive disorder Congenital heart defect Congenital tracheo esophageal fistula Coordination problem Cranial synostosis Developmental speech disorder DiGeorge Syndrome Encephalopathy Failure to Thrive Flat feet Hypospadias 4 3 2 2 2 1 1 1 1 1 1 1 1 1 1 1 1…

…1 1 1 1 1 1 1 7 Infantile Spasms Low-set ears Macrocephaly Macroencephaly Metatarsus varus Multiple congenital anomalies Possible Noonan Syndrome Speech delay Talipes varus Transient disorder VII Cranial Nerve disorder Webbed toes Weight gain XYY…

.