Introducing Edna: A trainee chatbot designed to support communication about additional (secondary) genomic findings.

OBJECTIVE: To support informed decision-making about reanalysis of clinical genomic data for risk of preventable conditions ('additional findings') by developing a chatbot (electronic genetic resource, 'eDNA'). METHODS: Interactions in pre-test genetic counseling sessions (13.5 h) about additional findings were characterized using proponent, thematic and semantic analyses of transcripts. We then wrote interfaces to draw supplementary data from external genetics applications. To create Edna, this content was programmed using a chatbot framework which interacts with patients via speech-to-text. RESULTS: Conditions, terms, explanations of concepts, and key factors to consider in decision making were all encoded into chatbot conversations emulating counseling session flows. Patient agency can be enhanced by prompted consideration of the personal and familial implications of testing. Similarly, health literacy can be broadened through explanation of genetic conditions and terminology. Novel aspects include sentiment analysis and collection of family history. Medical advice and the impact of existing genetic conditions were deemed inappropriate for inclusion. CONCLUSION: Edna's successful development represents a movement towards accessible, acceptable and well-supported digital health processes for patients to make informed decisions for additional findings. PRACTICE IMPLICATIONS: Edna complements genetic counseling by collecting and providing genomic information before or after pre-test consultations.

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.

Currently there is no secured ongoing funding in Australia for next generation sequencing (NGS) such as exome sequencing (ES) for adult neurological disorders. Studies have focused on paediatric populations in research or highly specialised settings, utilised standard NGS pipelines focusing only on small insertions, deletions and single nucleotide variants, and not explored impacts on management in detail. This prospective multi-site study performed ES and an extended bioinformatics repeat expansion analysis pipeline, on patients with broad phenotypes (ataxia, dementia, dystonia, spastic paraparesis, motor neuron disease, Parkinson's disease and complex/not-otherwise-specified), with symptom onset between 2 and 60 years. Genomic data analysis was phenotype-driven, using virtual gene panels, reported according to American College of Medical Genetics and Genomics guidelines. One-hundred-and-sixty patients (51% female) were included, median age 52 years (range 14-79) and median 9 years of symptoms. 34/160 (21%) patients received a genetic diagnosis. Highest diagnostic rates were in spastic paraparesis (10/25, 40%), complex/not-otherwise-specified (10/38, 26%) and ataxia (7/28, 25%) groups. Findings were considered 'possible/uncertain' in 21/160 patients. Repeat expansion detection identified an unexpected diagnosis of Huntington disease in an ataxic patient with negative ES. Impacts on management, such as more precise and tailored care, were seen in most diagnosed patients (23/34, 68%). ES and a novel bioinformatics analysis pipepline had a substantial diagnostic yield (21%) and management impacts for most diagnosed patients, in heterogeneous, complex, mainly adult-onset neurological disorders in real-world settings in Australia, providing evidence for NGS and complementary multiple, new technologies as valuable diagnostic tools.

Inclusion of diverse populations in genomic research and health services: Genomix workshop report.

Clinical genetic services and genomic research are rapidly developing but, historically, those with the greatest need are the least to benefit from these advances. This encompasses low-income communities, including those from ethnic minority and indigenous backgrounds. The "Genomix" workshop at the European Society of Human Genetics (ESHG) 2016 conference offered the opportunity to consider possible solutions for these disparities from the experiences of researchers and genetic healthcare practitioners working with underserved communities in the USA, UK and Australia. Evident from the workshop and corresponding literature is that a multi-faceted approach to engaging communities is essential. This needs to be complemented by redesigning healthcare systems that improves access and raises awareness of the needs of these communities. At a more strategic level, institutions involved in funding research, commissioning and redesigning genetic health services also need to be adequately represented by underserved populations with intrinsic mechanisms to disseminate good practice and monitor participation. Further, as genomic medicine is mainstreamed, educational programmes developed for clinicians should incorporate approaches to alleviate disparities in accessing genetic services and improving study participation.

Cancer genetics: the importance of obtaining a family history.

Cancer genetics is a rapidly evolving field that is becoming an integral part of a cancer patient's care. Until recently little genetics had been taught in the nursing curricula but a recent drive by the Department of Health is resulting in the integration of genetics into nurse training.