Rare Disease Day Symposium 2018 Presentation Summaries
GaRDN held its first Rare Disease Day Symposium on 28 February 2018 at the Perth City Library. We had a range of presenters, including; patients and patient advocates, researchers, policy makers and clinicians who all shared their insights on rare disease. The over-arching themes of the day were communication and collaboration and how important these are for everyone involved in the rare disease field. The rarity of conditions means, that in order to make a real difference to patient’s lives, collaboration sometimes needs to be global. It was also clear from many of the presentations that WA is leading activities in so many areas of genetic and rare disease and there was ample reason to be proud of the achievements that were discussed and the work underway.
Rachel provided the audience with a very personal insight into her rare disease experience with her daughter Evie. Her perspective on communication and the way it had impacted her understanding of the diagnosis when it was first provided and how it influenced the treatment experience. In her impressively positive style Rachel provided examples of where she had turned the ‘negative’ language about ‘disability’ and ‘deficit’ into positives. She then created the Super Power Baby Project where she used her skills as a photographer and her empathy and communication to highlight the beauty and “Super Powers” of children with chromosome differences. She finished by outlining her latest work which is to foster improved communication between patients, their carers and the clinicians involved in care
Telethon Kids Institute
Professor Jenefer Blackwell, Dr Timo Lassmann and Dr Genevieve Syn from Telethon Kids Institute provided an insight into the research they are conducting to improve the diagnosis of rare diseases in WA.
Professor Blackwell focussed on the need to improve diagnosis for people with rare diseases in WA. Many patients with rare diseases have a long road to diagnosis and have to undergo multiple specialists; laboratory and genetic tests. Based on a EURORDIS Survey, a quarter to nearly one-third of people with rare diseases are waiting 5 years to more than 30 years for a diagnosis and for nearly half of these people the first diagnosis was wrong. An incorrect diagnosis has the potential for severe, irreversible, or life-threatening consequences. An early and accurate diagnosis is vital to improve disease management, reduce complications and co-morbidities, improve quality of life and inform genetic counselling. She highlighted the work of a later speaker Dr Gareth Baynam via the UDP as being a priority service that will improve diagnosis
Researchers at the Telethon Kids Institute are involved with “finding the needle in the haystack” by analysing the 3 billion base pairs in the human genome to determine disease-causing variants, to ultimately provide a rare disease diagnosis.
Dr Lassmann described the use of computers to support analysing a tremendous amount of genetic information and data that tells us how our genome is being used in our body. Computers are able to make logical assessments of how genes are operating based on what is expressed by our genes through our physical responses. These analytics can be personalised based on what our bodies show to provide personalised analytics of our genes.
Dr Syn outlined her stem cell research which aims to achieve a diagnosis through whole genome sequencing, whole transcriptome sequencing and immune profiling with a view to then validating the diagnosis is correct! This involves using ‘cutting edge’ CRISPR – Cas9 technology to edit the gene and introduce a known mutation and then grow the stem cells into the cell type of interest and then check the impact of this on the function of the gene. Currently, Dr Syn is looking at Kleefstra syndrome and we look forward to hearing the outcomes of her work.
Professor Nigel Laing
Professor Nigel Laing gave an insightful talk about Precision Medicine for Genetic Rare Diseases. He gave an insight into the research journey that parallels the patient journey, focussing on gene discovery and molecular diagnosis as tools used in the laboratory to support diagnosis to the advent of next generation/multiple parallel sequencing and exome sequencing which allows all the genes in an individual to be sequenced at one time. These changes have taken place in less than 30 years.
Treatment for genetic diseases are now becoming a reality but they do so at an incredibly high financial cost per patient.
It is also now possible to focus on the prevention of certain genetic diseases rather than treating them once they occur. One option is to attempt to detect carriers of certain conditions before they have children. This is known as pre-conception carrier screening and is undertaken in certain at-risk populations and at a population level in Israel. The screening is available in some states in Australia for a number of conditions and/or a specific population on a user-pays basis. There is significant community discussion required to determine if this is an acceptable and appropriate screening program. Treatment and screening should both be considerations.
Dr Gareth Baynam
Clinical Geneticist, Head of the Western Australian Register of Developmental Anomalies (WARDA) and Program Director of the Undiagnosed Diseases Program provided a powerful insight into the concept of a ‘Diagknowsis’ – the power of an answer through describing the Undiagnosed Diseases Program (UDP) and the benefits for families and those living without a rare disease diagnosis. The UDP centres on an interdisciplinary approach focusing on one patient, at the same time and in the same place.
Moving away from paper records and finding common language as well as sharing information across the globe has resulted in discoveries and innovations for many rare and genetic diseases and conditions. Perth families impacted first hand without a diagnosis for a rare condition may be eligible for the initiation phase of the UDP. Based at Genetic Services, WA the UDP aims to provide a definitive diagnosis for people with complex and long-standing conditions.
Current President of SWAN (Syndromes Without A Name) Australia, Heather understands firsthand the despair and frustrations of being a parent of a child living with a rare condition. Heather offered a heartfelt insight into her own experiences with her daughter on her long journey to reaching a diagnosis after 9 long years; Heather describes this time as ‘limbo land’. Heather’s deeply personal account described the uncertainty for the family, frustrations and feelings of anxiety and the constant questions that plagued her along the way.
Driven by her own families’ experience with searching for a diagnosis for her daughter, Heather set up SWAN Australia to help and support others in a similar situation. SWAN Australia provides information and supports and encourages peer to peer support. It develops networks and increases awareness and understanding of undiagnosed and rare genetic conditions, as well as lobby government for investment into the genomics area.
Nicole Millis from Rare Voices Australia (RVA) spoke about the international focus on rare disease and the importance of equity and adequate health care for those with rare disease in all countries. In order to achieve this RVA has published a Call for a National Rare Disease Framework with six strategic priorities. The priorities include diagnosis, access to treatments, data collection, coordinated care, access to services, and coordinated research.
Since the document has been provided, the Federal government has provided research funding for rare disease research through the Medical Research Future Fund and announced a further round of funding that includes rare diseases.
Nicole also talked about the importance of clinical trials for patients to access treatment and the work of RVA in relation to rare disease registries.
Dr David Ransom
Gave an insight into the future of rare cancer management, including cancer statistics, classification and outcomes. He provided an overview of the Genomic Cancer Medicine Program which has clinical trials – matching patients to therapies and a risk management program for families with an inherited high risk of cancer. He finished with a summary of the future of rare cancer where whole genome sequencing will be a reality for more cancers which will enable better targeted treatments and governments will be under pressure to fund expensive treatments.
Dr Hugh Dawkins provided an overview of the activities that are occurring on the international stage, particularly with the International Rare Disease Research Consortium and the aspirational goals that have been developed for the 2017-2027 period. He highlighted the ways in which Western Australia is contributing to and leveraging from this international activity to improve the lives of people living with rare conditions.
Dr Gary Geelhoed gave an overview of the Western Australian Health Translation Network and how it seeks to harness the research capacity of Western Australia to create policy and practice changes. The focus of the network is collaboration to ensure that research leads to improvements in outcomes.
Ms Melissa Devlin provided a powerful insight into her rare disease experience, including the profound impacts it has had on numerous aspects of her personal and professional life. She very generously shared her medical, mental health, socio-economic experiences as well as the potential impact on her reproductive choices.
The discussion with the panel focussed on how networks and collaborations can be created and improved to ensure that the lives of people living with rare diseases are improved.