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.

Methods: 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 semistructured telephone interviews.

Results: Disease-specific treatment was identified for 7 probands (6%), while 48 probands (43%) were referred for further investigations or screening and 60 probands (54%) were recruited to further research. Just 5 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.

Conclusion: Our data demonstrate that receiving a genetic diagnosis has substantial positive medical and psychosocial outcomes for the majority of patients and their families.

Fig. 1. Flowchart showing recruitment process for the clinical audit and the semistructured interviews.

DDD Deciphering Developmental Disorders study.

Fig. 2. Flowchart demonstrating outcomes identified primarily through the clinical audit.

BINGO Brain and Behaviour in Intellectual Disability of known Genetic Origin study, CVS chorionic villus sampling, GP general practitioner, IMAGINE ID Intellectual Disability and Mental Health: Assessing the Genomic Impact on Neurodevelopment study, PGD pre-implantation genetic diagnosis.

Fig. 3. Cluster diagram representing the four major themes and their respective subthemes identified through thematic analysis of the interview transcript data.

DDD Deciphering Developmental Disorder study.