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 screen

SUBMITTER: Copeland H 

PROVIDER: S-EPMC8187151 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature