Caregiver and adult XXXX perspectives on the importance of a diagnosis of 22q11.2 deletion syndrome.

@entity1 @entity717
BACKGROUND: Recent advances in genetics are particularly relevant in the field of @entity717 ( @entity717 ), where sub-microscopic deletions or duplications of genetic material are increasingly implicated as known or suspected causal factors. Data-driven reports on the impact of providing an aetiological explanation in @entity717 are needed to help justify widespread use of new and expensive genetic technologies. METHODS: We conducted a survey of caregivers on the value of a genetic/aetiologic diagnosis of 22q11.2 deletion syndrome (22q11.2DS), the most common microdeletion syndrome in @entity717 . We also surveyed the opinion of a high-functioning subset of adults with 22q11.2DS themselves. We used standard quantitative and qualitative methods to analyse the responses. RESULTS: In total, 73 of 118 surveys were returned (61.9%). There was convergence of quantitative and qualitative results, and consistency between adult @entity1 and caregiver responses. A definitive molecular diagnosis of 22q11.2DS was a critical event with diverse positive repercussions, even if occurring later in life. Frequently cited benefits included greater understanding and certainty, newfound sense of purpose and a platform for advocacy, and increased opportunities to optimise medical, social and educational needs. CONCLUSIONS: This is the first study to characterise the impact of a diagnosis of this representative microdeletion syndrome on adult @entity1 and their families. The results both validate and expand on the theoretical benefits proposed by clinicians and researchers. The use of genome-wide microarray technologies will provide an increasing number of molecular diagnoses. The importance of a diagnosis of 22q11.2DS demonstrated here therefore has implications for changing attitudes about molecular genetic diagnosis that could benefit individuals with @entity717 of currently unknown cause and their families.
