Systematic assessment of outcomes following a genetic diagnosis identified through a large-scale research study into developmental disorders

Abstract

Purpose The clinical and psychosocial outcomes associated with receiving a genetic diagnosis for developmental disorders are wide-ranging but under-studied. We sought to investigate outcomes from a subset of families who received a diagnosis through the Deciphering Developmental Disorders (DDD) study. Method Individuals recruited through the Peninsula Clinical Genetics Service who received a confirmed genetic diagnosis through the DDD study before August 2019 (n=112) were included in a clinical audit. Families with no identified clinical outcomes (n=16) were invited to participate in semi-structured telephone interviews. Results Disease-specific treatment was identified for seven probands (6%), while 48 probands (43%) were referred for further investigations or screening and 60 probands (54%) were recruited to further research. Just five families (4%) opted for prenatal testing in a subsequent pregnancy, reflecting the relatively advanced maternal age in our cohort, and 42 families (38%) were given disease-specific information or signposting to patient-specific resources such as support groups. Six interviews were performed (response rate=47%) and thematic analysis identified four major themes: reaching a diagnosis, emotional impact, family implications and practical issues. Conclusions Our data demonstrate that receiving a genetic diagnosis has substantial positive medical and psychosocial outcomes for the majority of patients and their families.