Gregory Costain|Eva W.C. Chow|Peter N. Ray|Anne S. Bassett
Caregiver and adult patient perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome
University of Toronto|Centre for Addiction and Mental Health|University of Toronto|Centre for Addiction and Mental Health|Hospital for Sick Children|University of Toronto|University of Toronto|University Health Network|Centre for Addiction and Mental Health
abstract background recent advances genetics particularly relevant field intellectual disability id submicroscopic deletions duplications genetic material increasingly implicated known suspected causal factors datadriven reports impact providing aetiological explanation id needed help justify widespread use new expensive genetic technologies methods conducted survey caregivers value geneticaetiologic diagnosis 22q112 deletion syndrome 22q112ds common microdeletion syndrome id also surveyed opinion highfunctioning subset adults 22q112ds used standard quantitative qualitative methods analyse responses results total 73 118 surveys returned 619 convergence quantitative qualitative results consistency adult patient caregiver responses definitive molecular diagnosis 22q112ds critical event diverse positive repercussions even occurring later life frequently cited benefits included greater understanding certainty newfound sense purpose platform advocacy increased opportunities optimise medical social educational needs conclusions first study characterise impact diagnosis representative microdeletion syndrome adult patients families results validate expand theoretical benefits proposed clinicians researchers use genomewide microarray technologies provide increasing number molecular diagnoses importance diagnosis 22q112ds demonstrated therefore implications changing attitudes molecular genetic diagnosis could benefit individuals id currently unknown cause families