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A Novel Clinical Process to Expand Genetic Testing Access to Patients with Neurodevelopmental Disabilities

Clinical Genetics and Therapeutics
  • Primary Categories:
    • Clinical- Pediatric
  • Secondary Categories:
    • Clinical- Pediatric
Introduction:
Whole exome sequencing (WES) is standard of care during genetic evaluation of pediatric patients with neurodevelopmental disabilities including global developmental delay (GDD), intellectual disability (ID), and autism spectrum disorder (ASD) per the American College of Medical Genetics (ACMG) practice guidelines. Genetic testing can impact patient care in multiple ways, but diagnostic odyssey for a genetic etiology often spans years. NDDs are common and increasingly diagnosed, but access to WES testing has remained limited due to the expertise required for test administration and interpretation.

Here we describe a pilot to improve pediatric patient access to WES after NDD diagnosis and streamine Medical Genetics referrals for standard testing to focus on patients requiring the expertise of a geneticist to explain positive or uncertain results. 

Methods:
WES testing process was designed by an NDD subspecialist providing routine care of pediatric patients with NDDs. The process was collaborative with the CLIA-certified genetics testing laboratory (lab) performing test analysis and a medical geneticist in the same institution. The process requires family initial approval for WES pilot process with the NDD specialist. To ensure appropriate informed decision making, the WES order includes a second order for mandatory pre-counseling with a genetic counselor at the lab. Only after pre-test counseling with the lab is completed are testing kits sent for sample collection.  

Both the geneticist and lab were available to the NDD subspecialist at all points during genetic evaluation for questions regarding testing .  

All results were returned to pediatric patients and their families via the NDD subspecialist, who provided information and coordinated first steps in indicated care changes. All positive results were referred to the geneticist for consultation and results discussion. Those with variants of unknown significance (VUS) were also offered further consultation for additional phenotyping and results discussion with the geneticist. The lab also offered immediate post-result genetic counseling to all patients for any finding. 

Results:
Over nine months starting in August 2023, 36 patients with NDD diagnosis were offered WES, and 28 consented to initiation of WES through the pilot. The group included 6 Spanish-speaking and 22 English-speaking families; racial/ethnic identities were 12 White/Non-Latinx, 10 White/Latinx, 4 Black/Non-Latinx, and 2 Mixed Race/Non-Latinx. Insurance status included 6 privately insured, 2 dually private-public insured, and 22 publicly insured patients. Thirteen families completed pre-test genetic counseling and submitted samples for testing. Of those, 3 received an etiologic result (23%), 3 had a VUS associated with the NDD (23%), 6 were negative (46%), and 1 test is pending (8%). All 6 patients with positive or VUS test results have received post-test genetic counseling with the lab and were referred to medical genetics. The 6 patients with negative testing declined further referral to medical genetics.

Conclusion:
In this pilot study of a novel process to increase WES access to individuals diagnosed with an NDD, improved triage of patients with positive and VUS results to genetic specialists to receive next steps in care and information was seen.

This process reduced the number of referrals to medical genetics by nearly half (46%) while providing access to ACMG recommended testing and ensuring appropriate pre- and post-test counseling. This intervention is demonstrated to have tangible clinical benefit with minimal associated risks. 

Pediatric subspecialists should be empowered to order clinicallyappropriate testing as determined by ACMG guidelines within their areas of expertise in collaboration with Medical Genetics as part of a system’s approach to patient care . This process may allow medical geneticists to focus on diagnostic findings and/or specialty consideration of testing results within the larger clinical context and work to the highest level of their degree(s).

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