Reflections From the 2022 Annual Scientific Meeting for the Human Genetics Society of Australasia (HGSA)

RVA News

Held from 24-27 November 2022, the 45th Annual Scientific Meeting for the Human Genetics Society of Australasia (HGSA) attracted delegates representing various stakeholder groups from across Australia and around the world. The theme, Life Languages: Ancient Stories, New Conversations emphasised recent developments in genetics and genomics, with a diverse range of exceptional speakers. Plenary sessions and panel discussions covered areas including increasing diversity in rare disease research, Indigenous-led equitable access to genetic testing, data sharing and Indigenous data sovereignty, genomics research and precision health, genomics in newborn screening and novel gene therapies for rare disease. Updates were provided on the outcomes of McKenzie’s Mission and the Acute Care Genomics Program and, for the first time, the Sutherland Lecture was delivered by a genetic counsellor – RVA congratulates A/Prof Jodie Ingles, who was a speaker at the 2022 National Rare Disease Summit, on this prestigious honour.

Newborn Bloodspot Screening

Rare Voices Australia (RVA) was pleased to have two oral presentation abstracts accepted for the meeting. Louise Healy, RVA’s Education and Advocacy Manager, spoke at one of the Australasian Society for Inborn Errors of Metabolism Special Interest Group (ASIEM-SIG) sessions about The Changing Face of Newborn Screening – A Rare Disease Sector Forum hosted by RVA on 16 June 2022. This session brought together researchers recently awarded funding through the Medical Research Futures Fund, Genomics Health Futures Mission (Stream 2) grants (MRFF-GHFM grants), focused on research into genomic newborn screening (gNBS). RVA is a research partner on four of these projects.

With support from Australian Genomics, the recipients of these MRFF-GHFM grants have come together to form the GenSCAN Consortium (GenSCAN). GenSCAN is led by A/Prof Michael Gabbett from Queensland University of Technology’s Centre for Genomics and Personalised Health.  

The purpose of GenSCAN is to provide a collaborative forum for those involved in advancing the interrogation of genomics into NBS programs in Australia. The core objective of GenSCAN is to allow members to collaborate to learn from each other’s research projects and maximise the outputs of the MRFF-GHFM grants. As the expertise of the membership grows, GenSCAN will apply its exponential knowledge in gNBS to provide independent advice on issues emerging nationally and internationally in the area of gNBS. Hear from and learn about these projects directly from the lead researchers.

Rare Disease Workforce

Dr Falak Helwani, RVA’s Research and Evaluation Manger, also spoke in an ASIEM SIG session about the Rare Metabolic Disease Workforce White Paper: Towards a Strengthened Rare Disease Workforce for Australia and the National Strategy for Australia’s Rare Metabolic Workforce, which will be released in 2023. During this session, Dr Kris Elvidge from RVA Partner, Childhood Dementia Initiative (CDI), delivered a moving presentation on the impact of childhood dementia. This freely accessible PowerPoint presentation is part of a suite of resources created by CDI with funding from the Australian Government to raise awareness of childhood dementia among healthcare professionals. Several RVA Partners also attended the meeting.

RVA would like to thank the organisers of the meeting for the opportunity to share our work progressing the collaborative implementation of the National Strategic Action Plan for Rare Diseases and congratulate HGSA and everyone who contributed on a fantastic event.