Overview: referrals for genetic evaluation from child psychiatrists

Abstract

A growing multitude of known genetic diagnoses can result in presentation to child psychiatry. For numerous reasons, it is important to identify a genetic etiology in child psychiatry patients when it is present. Genetic diagnoses can guide treatment and enable access to specialized clinics and appropriate screening measures. They can also allow for genetic counseling for the patient and family. A better understanding of etiology with a named diagnosis can itself be of great value to many patients and families; prognostic information can be empowering. Since patients with genetic conditions may present to psychiatric care in diverse ways, child psychiatrists must decide who to refer for genetic evaluation. Here we create a table to provide a framework of concerning/notable history and exam features that a practicing child psychiatrist may encounter that should prompt one to consider whether a larger, unifying genetic diagnosis is at hand. We hope this framework will facilitate referral of child psychiatry patients to genetics so that more patients can benefit from an appropriate diagnosis.

Elucidating the diagnostic odyssey of 22q11.2 deletion syndrome

“…The finding that genetic specialists most commonly ordered diagnostic testing suggests that some of the diagnostic delay could be in the time to be referred to and be seen by a geneticist. Genetics referrals could also indicate unfamiliarity among other specialities with directly ordering genetic tests [Dominguez-Carral et al, 2017; Haga et al, 2013; Press et al, 2016; Salm et al, 2014], even though access to genetic testing for 22q11.2 deletions by licensed physicians in Ontario is universal. In many jurisdictions, insurance and other barriers, including additional forms and requirements, may limit genetic test capabilities and uptake.…”

“…Diagnostic delays can correspond to delayed access to appropriate anticipatory care, early interventions, and access to resources and services including genetic counselling and family planning [Cotter et al, 2016; Pfundt et al, 2016; Press et al, 2016]. Implementation of 22q11.2DS as the single diagnostic label, provision of timely confirmatory molecular testing, and increased use of clinical microarrays as a first-tier test for those with developmental delays/intellectual disabilities and/or congenital anomalies may improve confidence in ordering genetic testing and help to reduce diagnostic confusion while eliminating missed or prolonged diagnosis for patients with 22q11.2DS and their families [Sagoo et al, 2015; Trakadis and Shevell 2011].…”