HGSA

The 43rd annual scientific meeting took place on 3-6 August 2019 in Wellington with the theme of Winds of Change to convey the importance of new developments in human genetics and genomics.

RDNZ hosted a stall at the conference to raise awareness and network with others in the field of rare disorders. A key topic at the conference included participation of first nation populations in genomic medicine. Our board member Professor Stephen Robertson gave a presentation as part of Genomics Aotearoa, a collaborative platform in New Zealand to ensure international participation in the field of genomics and bioinformatics (the development of methods and software tools for understanding the biological data derived from genetics).

Professor Robertson presented on ‘The Aotearoa NZ Genomic Variome Project’ which encompasses understanding the unique variation in the New Zealand population and its health consequences for accurate diagnosis. It involves the gathering and analysis of Maori and Pacific variations to improve understanding of the health consequences of these variations. This project is Maori-led with co-development of processes to ensure that benefits from the data and Kaitiakitanga (guardianship) are consistent with Te Ao Maori.

We also had the opportunity to connect with our Australian counterparts. Lisa met with Rare Voices Australia CEO Nicole Millis, Executive Director of the Genetic and Rare Disease Network (GaRDN) Amanda Samanek, Chief Executive Officer of the Genetic Support Network of Victoria Monica Ferrie, and Louisa Di Pietro, Education and Advocacy Consultant from the Genetic Support Network of Victoria.

Australia has recently completed a National Strategic Action Plan for Rare Disease which looks to resolve the complexity and unmet need with policy solutions - this is being signed off with government. This document and the enormous steps Australia are taking in relation to acknowledging the challenges facing those with rare disorders was discussed with the Minister of Health David Clark at our meeting with him on 7 August 2019.

The importance of having government mandate and support was reflected in the discussion regarding Genomics UK with the explanation that the previous UK Prime Minister David Cameron had a son with a rare disorder, and he initiated the UK 100,000 Genomes Project. Genomic Medicine Centres have been established and the expectation is for one to five million genomes to be mapped over five years. The programme favoured rare diseases over cancer as the quality of the cancer samples was affecting the results. People have embraced the opportunity to be involved and there is a participant panel who are more progressive with their support for genomics than was first expected. The desire has been to share data externally if it means more research and potential future medicines. There are 21 categories of rare diseases and seven genomic hubs within the NHS in the UK.

With all these amazing initiatives in place the hope is that the New Zealand government will acknowledge the growing collective strength of people living with rare diseases and offer supportive action planning and policies to address the inequities and barriers that currently exist.

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