A Diagnostic Journey in Neurodevelopmental Disorders: Toward Improving Comprehensive Care for Children with Neurodevelopmental Disorders and Neurogenetic Conditions.

Background: Established medical practice parameters for genetic testing in Neurodevelopmental Disorders (NDDs) has led to the identification of numerous genetic variations associated with these conditions (Schaefer et al, 2013; Duffourd et al, 2016; Sawyer et al, 2016). However, families continue to face barriers in access of care and diagnostic evaluation (Basel & McCarrier, 2016). In addition, our ability to identify genetic etiologies of NDDs has far outpaced our ability to provide timely medical care. Families of patients with NDDs are often left to digest complex medical terminology and explore resources that may best guide them in the care of their child.

Objectives: Our team has established the Care and Research in Neurogenetics (CARING) Clinic to provide comprehensive multidisciplinary care to patients with a NDD and known genetic etiology. We have utilized a diagnostic journey interview (DJI) to identify the major barriers in access of care and gaps in subsequent medical support following a genetic diagnosis. This study highlights the major results from our collected data.

Methods: The medical team consisting of neurologists, geneticists, and psychiatrists developed the DJI based on clinical experience and literature review. After creation of the DJI, trained staff conducted the interview with families by phone. A total of 25 families completed the DJI. The interview consists of questions regarding initial developmental concerns for the child, time from initial concern to first clinical diagnosis and to genetic testing, and medical counseling and access to services after clinical and genetic diagnoses.

Results: Numerous themes emerged from the data. Greater than 70% of families had developmental concerns for their child in the first year of life. Greater than 70% of families noted there was no availability of specialized medical evaluation in their geographic area. 57% of families noted a considerable wait time to see a geneticist. If genetic testing was obtained before referral to specialist, 80% of families reported minimal genetic counseling when results were given. Families noted that the most useful and informative resources were provided by the specializing health care provider (86%) and patient advocacy groups (57%). Qualitatively, primary care providers did not always address developmental concerns by referring to specialized practitioners, and although there was initial “fear and anxiety” in awaiting the results of the genetic testing, ultimately having the results was worth it.

Conclusions: The DJI highlights several key themes in improving medical care for patients with NDDs and their families. Moving forward, our clinic will utilize these results to share with community providers regarding the process of obtaining genetic testing and providing subsequent counseling. In addition, it is imperative as we identify known genetic disorders associated with NDDs that we begin to identify treatments that target core symptoms of the disorder. Lastly, as indicated by this interview practitioners should aid in building family networks around these genetic disorders to help support these families.