Perinatal death, of a fetus or newborn, is a devastating event for families. Following nationwide multicentre recruitment, we assessed 'genomic autopsy' as an adjunct to standard autopsy for 200 families who experienced perinatal death, and provided a de nite or candidate genetic diagnosis in 105 families. From this understudied cohort, half of the (candidate) diagnoses were phenotype expansions or novel disease genes, revealing previously unknown in-utero presentations of existing developmental disorders, and genomic disorders that are likely incompatible with life. Among the de nite diagnoses, 43% were recessively or dominantly inherited, posing a 25% or 50% recurrence risk for future pregnancies. Ten families used their diagnosis for preimplantation or prenatal diagnosis of 12 pregnancies, facilitating the delivery of ten healthy newborns and management of two affected pregnancies. We emphasize the clinical importance of genomic investigations of perinatal death, with short turn-around times, enabling accurate counselling and options for families to prevent recurrence.

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Clinical genomic testing, analysis of your entire genetic material for healthcare purposes, is a complex topic for various medical specialities. Although Australia is a multicultural society, most genomic resources are produced in English which can make understanding challenging for people from culturally and linguistically diverse (CALD) backgrounds. A mixed methods approach explored the views of healthcare interpreters and people from CALD backgrounds to identify knowledge gaps and inform the provision of more equitable services. Eighteen healthcare interpreters completed a survey from two public hospitals in Melbourne. Descriptive data analysis informed the four pilot interviews with individuals from CALD backgrounds identified through online advertisements. Interpreters revealed variable satisfaction with patient understanding of genomic concepts and suggested that basic training and resources on genomics would help facilitate interpretation. Three themes arose from the pilot interviews: (1) cultural factors; (2) perceptions of genomics; and (3) language barriers and complex terminology. Resources that consider cultural differences and language barriers will help to ensure people from CALD backgrounds are adequately informed about genomic testing. The pilot interviews will inform future in-depth studies of the views of people from the CALD community.

Health Interpreters enable effective communication between health practitioners and patients with limited knowledge of the predominant language. This study developed and evaluated a training session introducing Health Interpreters to genetics. The online training was delivered multiple times as a single 2-h session comprising lectures and activities. Participants completed questionnaires (pre-, post-, and 6-months follow-up) to assess the impact of training on knowledge, attitude, self-efficacy, and self-reported practice behaviour. Questionnaires were analysed using descriptive statistics, Fisher’s Exact, or independent t-test. In total, 118 interpreters participated in the training sessions. Respondent knowledge improved, with gains maintained at 6-months (p < 0.01). There were no changes in self-efficacy, and attitudes. Training did not change self-reported practice behaviour, but there was notable pre-existing variability in participants’ methods of managing unknown genetic words. Most respondents agreed that training was useful (93%) and relevant (79%) to their work. More respondents reported learning more from the case study activity (86%) than the group activity (58%). Health Interpreters found the training acceptable and demonstrated sustained improvement in knowledge of genetic concepts. Increased delivery of this training and associated research is needed to assess findings in a larger cohort and to measure the impact on patients.