A multidisciplinary paediatric endocrine genetic clinic: experience from a single tertiary centre
E Chen1, R McGowan1,2, M G Shaikh3,4
1College of Medical, Veterinary & Life Sciences, University of Glasgow, Glasgow, UK.
Insights
A combined pediatric endocrine-genetics clinic improved diagnosis rates for rare conditions. This multidisciplinary approach streamlined care and enhanced patient experience, highlighting the need for continued specialist support.
Area of Science:
- Pediatric Endocrinology
- Clinical Genetics
- Rare Diseases
Background:
- Multidisciplinary team (MDT) clinics enhance care coordination and diagnostic decision-making for complex conditions.
- Interpreting genetic testing results requires specialist input.
Purpose of the Study:
- To evaluate the benefits of a combined pediatric endocrine-genetics clinic.
- To assess the impact on diagnostic rates and patient care pathways for rare conditions.
Main Methods:
- Retrospective review of case notes for patients attending a combined clinic (2022-2024).
- Data collected included genetic testing types, diagnostic yield, and clinical outcomes.
- Qualitative evaluation of collected data.
Main Results:
- 43% of 21 included patients received a new genetic diagnosis.
- Whole-exome sequencing and MS-MLPA showed the highest diagnostic yield.
- 67% of patients were referred for further specialist input post-clinic.
Conclusions:
- Multidisciplinary endocrine-genetics clinics offer a streamlined diagnostic pathway for rare conditions.
- These clinics improve patient experience and diagnostic yield.
- Specialist input is crucial for long-term outcomes following genetic diagnoses.
Abstract:
Multidisciplinary care is vital to the smooth running of patient-centred care, especially in the context of rare conditions. This service evaluation aimed to determine the potential benefits of a combined paediatric endocrine genetic clinic at a tertiary hospital, including increased diagnostic rates. Retrospective review of case notes of patients who attended the combined clinic at the Royal Hospital for Children, Glasgow, between 2022 and 2024 was done. Data collected included the type of genetic testing which had been performed, diagnostic yield and clinical outcomes. The data were evaluated qualitatively. A total of 21 patients (median age 5.3 years, range 6 months to 21 years) were included. Then, 43% were given a new genetic diagnosis, the greatest diagnostic yield occurring from whole-exome sequencing and MS-MLPA, with 67% of patients referred for further specialist input or investigations after attendance at the clinic.
Conclusion:
This study brings to light the benefits of a multidisciplinary endocrine-genetics clinic in the management of an under-researched patient cohort. It offers a streamlined diagnostic pathway with high diagnostic yield and improved patient experience. This clinic also highlighted the need for specialist input after genetic diagnoses were made to improve long-term health outcomes. However, limitations are its retrospective nature and absence of patient-reported outcomes; there is a need for future prospective research.
What Is Known:
• The results of genetic testing can be challenging to interpret without specialist input. • MDT clinics improve care coordination and diagnostic decision-making in complex multisystem conditions.
What Is New:
• This study is the first UK-based study evaluating a combined paediatric endocrine-genetics clinic. • The clinic streamlined care by reducing the need for multiple appointments, directed genetic testing and tailoring management plans.
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