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Updated: Aug 8, 2025
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn
Tatiane Yanes1,2, Anna Sullivan3, Pasquale Barbaro4,5
1Queensland Paediatric Immunology and Allergy Service, Children's Health Queensland, Brisbane, QLD, 4101, Australia. t.yanes@uq.edu.au.
Insights
A new care model improved genomic testing for children with inborn errors of immunity (IEI). This approach enhanced diagnosis and treatment decisions, benefiting patients and clinicians.
Area of Science:
- Clinical Immunology
- Genomic Medicine
- Paediatric Allergy
Background:
- Molecular diagnosis of paediatric inborn errors of immunity (IEI) is crucial for timely, targeted therapies.
- Growing demand for genetic services causes significant delays in genomic testing.
- Delayed diagnosis impacts patient management and clinical outcomes.
Purpose of the Study:
- To evaluate a mainstreamed model of care for point-of-care genomic testing in paediatric IEI.
- To improve access to genetic services and expedite diagnosis for children with suspected IEI.
- To assess the feasibility and acceptability of the integrated care model.
Main Methods:
- Implementation of a genetic counsellor embedded within a paediatric immunology and allergy service.
- Establishment of state-wide multidisciplinary team (MDT) and variant prioritisation meetings.
- Whole exome sequencing (WES) was performed on eligible paediatric patients.
Main Results:
- Twenty-one percent (9/43) of children undergoing WES received a molecular diagnosis.
- All patients with a positive diagnosis experienced changes in treatment and management, including stem cell transplantation.
- The model facilitated testing for regional patients and engaged numerous healthcare providers.
Conclusions:
- A mainstreamed model of care is feasible for paediatric IEI genomic testing.
- This approach improves access to testing, aids treatment decisions, and is well-received by families and clinicians.
- Integrating genomic services enhances the management of paediatric immune disorders.
Abstract:
Molecular diagnosis of paediatric inborn errors of immunity (IEI) influences management decisions and alters clinical outcomes, through early use of targeted and curative therapies. The increasing demand for genetic services has resulted in growing waitlists and delayed access to vital genomic testing. To address this issue, the Queensland Paediatric Immunology and Allergy Service, Australia, developed and evaluated a mainstreaming model of care to support point-of-care genomic testing for paediatric IEI. Key features of the model of care included a genetic counsellor embedded in the department, state-wide multidisciplinary team meetings, and variant prioritisation meetings to review whole exome sequencing (WES) data. Of the 62 children presented at the MDT, 43 proceeded to WES, of which nine (21%) received a confirmed molecular diagnosis. Changes to treatment and management were reported for all children with a positive result, including curative hematopoietic stem cell transplantation (n = 4). Four children were also referred for further investigations of variants of uncertain significance or additional testing due to ongoing suspicion of genetic cause after negative result. Demonstrating engagement with the model of care, 45% of the patients were from regional areas and on average, 14 healthcare providers attended the state-wide multidisciplinary team meetings. Parents demonstrated understanding of the implications of testing, reported minimal decisional regret post-test, and identified benefits to genomic testing. Overall, our program demonstrated the feasibility of a mainstreaming model of care for paediatric IEI, improved access to genomic testing, facilitated treatment decision-making, and was acceptable to parents and clinicians alike.
