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

AIM: Recent rapid advances in genomics are revolutionising patient diagnosis and management of genetic conditions. However, this has led to many challenges in service provision, education and upskilling requirements for non-genetics health-care professionals and remuneration for genomic testing. In Australia, Medicare funding with a Paediatric genomic testing item for patients with intellectual disability or syndromic features has attempted to address this latter issue. The Sydney Children's Hospitals Network - Westmead (SCHN-W) Clinical Genetics Department established Paediatric and Neurology genomic multidisciplinary team (MDT) meetings to address the Medicare-specified requirement for discussion with clinical genetics, and increasing genomic testing advice requests. METHODS: This SCHN-W genomic MDT was evaluated with two implementation science frameworks - the RE-AIM (Reach, Effectiveness, Adoption, Implementation, Maintenance) and GMIR - Genomic Medicine Integrative Research frameworks. Data from June 2020 to July 2022 were synthesised and evaluated, as well as process mapping of the MDT service. RESULTS: A total of 205 patients were discussed in 34 MDT meetings, facilitating 148 genomic tests, of which 73 were Medicare eligible. This was equivalent to 26% of SCHN-W genetics outpatient activity, and 13% of all Medicare-funded paediatric genomic testing in NSW. 39% of patients received a genetic diagnosis. CONCLUSION: The genomic MDT facilitated increased genomic testing at a tertiary paediatric centre and is an effective model for mainstreaming and facilitating precision medicine. However, significant implementation issues were identified including cost and sustainability, as well as the high level of resourcing that will be required to scale up this approach to other areas of medicine.

Early fetal echocardiography: Experience of a tertiary diagnostic service.

BACKGROUND: There is a growing body of evidence that most of the major cardiac abnormalities can be diagnosed at 14-15 weeks of gestation. We present our experience of early fetal echocardiography. MATERIALS AND METHODS: This is a retrospective cohort study of women referred for early fetal echocardiography at 13-16 weeks of gestation at Royal Prince Alfred Hospital and Sydney Ultrasound for Women between August 2011 and March 2014. Findings of early fetal echocardiography, details of subsequent ultrasound examinations and pregnancy outcome were recorded. RESULTS: Early fetal echocardiography was performed in 400 euploid fetuses at a mean gestational age of 15(+2)  weeks. 85% of women were referred for increased nuchal translucency. 383/400 (96%) women had both normal early and late fetal echocardiograms 15/400 (3.7%) were found to have a cardiac defect at early fetal echocardiography, including 14 major and one minor abnormality. Two additional minor cardiac defects were diagnosed at later antenatal ultrasounds. One case, defined as being normal antenatally, was found to have a minor cardiac abnormality post-natally. Eight (57%) women whose fetus had a major cardiac defect chose to terminate the pregnancy. In the pregnancies that continued, the sensitivity and specificity for major cardiac defects was 100%, 95% CI (0.98-1.00). CONCLUSION: Early fetal echocardiography is feasible and highly sensitive and specific in experienced hands. The high specificity facilitates early reassurance of those women assessed at increased risk for fetal cardiac malformations.