In Australia, it is estimated that 60% of the population will be affected by a condition which has some genetic background. Current conservative estimates indicate that approximately 6-8% of Australians are affected by a rare disease, 80% of which are genetic in origin. We have currently identified approximately 10,000 rare diseases, a number that is increasing each day. All these statistics can be expected to grow……The Australian Bureau of Statistics in Australia recently reported that there are as many people in Australia with rare disease as there is with diabetes.

We live in an age where we are unlocking some of the secrets of our genomic code, beginning to understand that we have coded sequences that are sometimes optimal, sometimes not – because of the pre-programmed pattern we follow or because of an unexplained genetic change which occurred inexplicably just for us. In this complex space, we are also just beginning to understand a relationship between our genes and our environment. There is so much more to learn. Discovery can bring hope and possibility; understanding and knowledge; fear and despair. Lack of diagnosis can bring frustration and isolation.

Diagnosis of a genetic condition can challenge and ignite deep and intimate beliefs and questions about ourselves, those who came before us and those who come after.

The GSNV was established in 1997 in recognition of a gap of a broad consumer voice in genetic health, acknowledgement of a gap in support for many genetic conditions, a dearth of community education around genetic and rare conditions and to serve as an interface between the community voice and health professionals. We’ve been doing that for almost 20 years and now we need your help

We are a statewide service, funded by the State Government of Victoria and aligning our work to the National Health Genomics Policy Framework and the Victorian Genomics Health Strategy. We serve all genetic, undiagnosed and rare conditions – taking an inclusive approach to what is common across all conditions – for people with conditions and those who support them including patient advocates, support organisations, health professionals and community. We also work with specific condition related groups to harness learning and expand reach of resources, information, support, advocacy and education.

We’ve always worked with our colleagues interstate, recognizing that a national voice advocating on behalf of all Australian’s is more powerful than a single voice. State organisations like GSNV exist in NSW and WA and are connected to health strategy and policy in their state as well as the national framework – we need to be a strong voice at both levels of Government because they have different responsibilities in the health sector and system under our constitution.

Coming together at the Rare Disease Summit at the end of 2018, the 5 peak representative organisations, Genetic and Rare Disease Network (GaRDN) WA, Genetic Support Network Victoria (GSNV), Genetic Alliance Australia (GAA) NSW, Syndromes Without a Name (SWAN) and Rare Voices Australia (RVA) agreed to come together to establish the Genetic, Undiagnosed and Rare Disease (GUARD) coalition as a formal collaboration of peak organisations for people living with genetic, undiagnosed and rare disease.

In February 2019, we outlined 5 key areas of collaboration, agreed and formally recognized these in a Memorandum of Understanding. These areas are Increasing awareness of genetic, rare and undiagnosed diseases in Australia

• Developing agreed position statements on matters that impact people living with genetic, rare and undiagnosed diseases in Australia to represent their views and for use in advocacy
• Collaborating to reduce duplication and ensure consistency of messages on matter of importance to the genetic, rare and undiagnosed disease communities in Australia
• Developing and delivering a national response that may include projects and activities to relevant national documents, including the National Genomic Health Framework

To date GUARD has collaborated on submissions to the Federal Government, including life insurance and childhood syndromes and we will continue to act together in future to bring our combined strength and experience to areas we know are so important to our communities.

The GUARD organisations will continue to support each other across our state boundaries and actively seek opportunities to come together to achieve our objectives.

This is an exciting time for us all and we are determined to ensure that our communities are engaged and empowered and that we are moving towards ensuring better lives for everyone.

If you would like to know more about GSNV or GUARD, please feel free to contact me at info@gsnv.org.au

Monica Ferrie

Chief Executive Officer

Genetic Support Network of Victoria