Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine

Area of Science:

• Genomic Medicine
• Implementation Science
• Paediatric Healthcare

Background:

• Genomic medicine advances necessitate new healthcare service models.
• Challenges exist in service provision, education, and funding for genomic testing.
• Australian Medicare funding introduced a Paediatric genomic testing item to address cost barriers.

Purpose of the Study:

• To evaluate a Paediatric and Neurology genomic multidisciplinary team (MDT) at Sydney Children's Hospitals Network - Westmead (SCHN-W).
• To assess the MDT's effectiveness in facilitating genomic testing and diagnoses.
• To identify implementation challenges and opportunities for scaling the MDT model.

Main Methods:

• Utilized RE-AIM and Genomic Medicine Integrative Research (GMIR) frameworks for evaluation.
• Analyzed data from 34 MDT meetings between June 2020 and July 2022.
• Conducted process mapping of the MDT service delivery.

Main Results:

• 205 patients discussed, facilitating 148 genomic tests (73 Medicare-eligible).
• MDT activity represented 26% of SCHN-W genetics outpatient services and 13% of NSW paediatric genomic testing.
• A genetic diagnosis was achieved in 39% of patients.

Conclusions:

• The genomic MDT model effectively increased genomic testing and supports precision medicine integration.
• Significant implementation challenges include cost, sustainability, and resourcing requirements.
• Scaling the MDT approach requires substantial investment and strategic planning.