- Email: [email protected]
Orphan diseases: challenges, costs and opportunities – this is how we might do it: policy and resourcing
ABSTRACTS
ORPHAN DISEASES: CHALLENGES, COSTS AND OPPORTUNITIES – THIS IS HOW WE MIGHT DO IT: POLICY AND RESOURCING Ron Trent Department of Molecular & Clinical Genetics, Royal Prince Alfred Hospital, Camperdown, and Sydney Medical School, University of Sydney, NSW, Australia Marketing: The webpage for Orphanet states: (1) It is the portal for rare diseases and orphan drugs, (2) rare diseases are rare but rare disease patients are common. These concepts can be confusing and so complicate the potential to engage the public and decisionmakers. Activities such as Rare Diseases Day, support groups including a move towards a National organization, and individual action such as the Steve Waugh Foundation are important, as is the recent joining of Orphanet by Australia. How we might do it? Fortunately, there are a number of models developed and funded in the EU and the USA to identify and address the many issues around rare diseases and orphan drugs, e.g., European reference portal for information (Orphanet) and NIH’s Office of Rare Disease Research. However, information alone is not enough. To progress implementation requires a champion. Policy and resourcing: Government intervention is needed, e.g., US Rare Diseases Act 2002. Our Therapeutic Goods Administration (TGA) facilitates the registration of orphan drugs. However, subsidising drugs through the Pharmaceutical Benefit Schedule (PBS) continues to be an issue. Support for rare diseases must rate high in terms of priorities for the proposed National Disability Insurance Scheme (NDIS) but we should not wait to get this aspect of patient and family care onto the national agenda. ORPHAN DISEASES: CHALLENGES, COSTS AND OPPORTUNITIES – THIS IS WHY YOU MUST DO IT: A VOICE FOR FAMILIES Tracy Dudding Rare Voices Australia Rare diseases refer to a heterogeneous group of conditions each with an estimated prevalence of less than 1 in 2000. However, low prevalence does not equal low burden of illness. Rare diseases often begin in childhood, are disabling or life threatening and can be difficult to diagnose. There is no effective treatment for many of these conditions, which are referred to as ‘health orphans’ because they are neglected with respect to research. There are 5000–8000 distinct rare diseases that are estimated to collectively affect 6–8% of the population during their lives. The paradox is that although each condition is rare, it is not uncommon to have or know an individual with a rare disease. So unity became the foundation stone for Rare Voices Australia, a national alliance established in February 2012 which represents the interests and concerns of all Australians living with a rare disease. I will discuss challenges and opportunities within the areas of rare disease diagnosis and management, surveillance and monitoring, research and Orphan drug treatment. YOU SAY GENOMICS AND I SAY GENETICS Charles (Buck) Strom Genetics, Quest Diagnostics Nichols Institute, and Department of Pediatrics, University of California, CA, United States
S31
Many articles in academic and lay publications have predicted that massively parallel whole genome sequencing (NGS) will quickly replace all molecular testing modalities currently in place. These pundits ignore some of the major obstacles that will be necessary to overcome before NGS becomes a routine part of molecular testing. These include issues of accuracy (sensitivity and specificity), pseudogenes, variants of unknown clinical significance, post-translational modifications, informatics, repeat expansion diseases, gene conversions, cost, through-put, sequence assembly, platform stability, reimbursement, reporting, consenting, and regulatory (USA). Subsequently I will review the current offerings of exome sequencing and more limited gene panels performed by advanced sequencing currently that are offered in US laboratories and reagent manufacturers for heritable conditions and cancer. This presentation will examine each of these issues in detail to provide the attendee with knowledge that will aid him or her in evaluating potential opportunities in this field. ACCREDITATION FOR NEW AND EMERGING TECHNOLOGIES Andrew Griffin National Association of Testing Authorities (NATA), Australia The NATA/RCPA Accreditation program in Medical Testing has been in operation since the 1980 s. During this time there have been many extraordinary advances made in the field of medical science for which accreditation has been sought. The challenge for technical assessors, laboratories and NATA staff alike has been how to apply existing standards to these new and emerging technologies. The organisations seeking accreditation may be one of the only facilities using such technology in Australia (or even worldwide) and therefore are the ones making their own rules in terms of performance and quality. I will attempt to show how the accreditation program adapts to these new technologies using the professional resources available and reviews guidelines and standards of practice in terms of their intent. CLIA CERTIFICATION, CAP ACCREDITATION – INTERNATIONAL EXPERIENCE IN GAINING ACCREDITATION FOR USE OF MASSIVELY PARALLEL SEQUENCING IN A CLINICAL LABORATORY Vanessa Tyrrell Translational & Clinical Genomics, Illumina Inc., San Diego, CA, USA Genetic testing is already well established in clinical pathology laboratories using the more traditional technologies associated with molecular genetic testing. The introduction and implementation of ‘next generation’ technologies in genetic pathology, while posing a set of potentially challenging issues, is the obvious next step in providing more comprehensive delivery of information to clinicians to facilitate improvements in patient management and outcomes. Illumina’s protocol for offering individual genome sequencing by massively parallel sequencing in a clinical laboratory was developed responsibly, using current professional and regulatory guidelines, in conjunction with an independent ethics advisory board.
Copyright © Royal College of pathologists of Australasia. Unauthorized reproduction of this article is prohibited.
ORPHAN DISEASES: CHALLENGES, COSTS AND OPPORTUNITIES – THIS IS HOW WE MIGHT DO IT: POLICY AND RESOURCING Ron Trent Department of Molecular & Clinical Genetics, Royal Prince Alfred Hospital, Camperdown, and Sydney Medical School, University of Sydney, NSW, Australia Marketing: The webpage for Orphanet states: (1) It is the portal for rare diseases and orphan drugs, (2) rare diseases are rare but rare disease patients are common. These concepts can be confusing and so complicate the potential to engage the public and decisionmakers. Activities such as Rare Diseases Day, support groups including a move towards a National organization, and individual action such as the Steve Waugh Foundation are important, as is the recent joining of Orphanet by Australia. How we might do it? Fortunately, there are a number of models developed and funded in the EU and the USA to identify and address the many issues around rare diseases and orphan drugs, e.g., European reference portal for information (Orphanet) and NIH’s Office of Rare Disease Research. However, information alone is not enough. To progress implementation requires a champion. Policy and resourcing: Government intervention is needed, e.g., US Rare Diseases Act 2002. Our Therapeutic Goods Administration (TGA) facilitates the registration of orphan drugs. However, subsidising drugs through the Pharmaceutical Benefit Schedule (PBS) continues to be an issue. Support for rare diseases must rate high in terms of priorities for the proposed National Disability Insurance Scheme (NDIS) but we should not wait to get this aspect of patient and family care onto the national agenda. ORPHAN DISEASES: CHALLENGES, COSTS AND OPPORTUNITIES – THIS IS WHY YOU MUST DO IT: A VOICE FOR FAMILIES Tracy Dudding Rare Voices Australia Rare diseases refer to a heterogeneous group of conditions each with an estimated prevalence of less than 1 in 2000. However, low prevalence does not equal low burden of illness. Rare diseases often begin in childhood, are disabling or life threatening and can be difficult to diagnose. There is no effective treatment for many of these conditions, which are referred to as ‘health orphans’ because they are neglected with respect to research. There are 5000–8000 distinct rare diseases that are estimated to collectively affect 6–8% of the population during their lives. The paradox is that although each condition is rare, it is not uncommon to have or know an individual with a rare disease. So unity became the foundation stone for Rare Voices Australia, a national alliance established in February 2012 which represents the interests and concerns of all Australians living with a rare disease. I will discuss challenges and opportunities within the areas of rare disease diagnosis and management, surveillance and monitoring, research and Orphan drug treatment. YOU SAY GENOMICS AND I SAY GENETICS Charles (Buck) Strom Genetics, Quest Diagnostics Nichols Institute, and Department of Pediatrics, University of California, CA, United States
S31
Many articles in academic and lay publications have predicted that massively parallel whole genome sequencing (NGS) will quickly replace all molecular testing modalities currently in place. These pundits ignore some of the major obstacles that will be necessary to overcome before NGS becomes a routine part of molecular testing. These include issues of accuracy (sensitivity and specificity), pseudogenes, variants of unknown clinical significance, post-translational modifications, informatics, repeat expansion diseases, gene conversions, cost, through-put, sequence assembly, platform stability, reimbursement, reporting, consenting, and regulatory (USA). Subsequently I will review the current offerings of exome sequencing and more limited gene panels performed by advanced sequencing currently that are offered in US laboratories and reagent manufacturers for heritable conditions and cancer. This presentation will examine each of these issues in detail to provide the attendee with knowledge that will aid him or her in evaluating potential opportunities in this field. ACCREDITATION FOR NEW AND EMERGING TECHNOLOGIES Andrew Griffin National Association of Testing Authorities (NATA), Australia The NATA/RCPA Accreditation program in Medical Testing has been in operation since the 1980 s. During this time there have been many extraordinary advances made in the field of medical science for which accreditation has been sought. The challenge for technical assessors, laboratories and NATA staff alike has been how to apply existing standards to these new and emerging technologies. The organisations seeking accreditation may be one of the only facilities using such technology in Australia (or even worldwide) and therefore are the ones making their own rules in terms of performance and quality. I will attempt to show how the accreditation program adapts to these new technologies using the professional resources available and reviews guidelines and standards of practice in terms of their intent. CLIA CERTIFICATION, CAP ACCREDITATION – INTERNATIONAL EXPERIENCE IN GAINING ACCREDITATION FOR USE OF MASSIVELY PARALLEL SEQUENCING IN A CLINICAL LABORATORY Vanessa Tyrrell Translational & Clinical Genomics, Illumina Inc., San Diego, CA, USA Genetic testing is already well established in clinical pathology laboratories using the more traditional technologies associated with molecular genetic testing. The introduction and implementation of ‘next generation’ technologies in genetic pathology, while posing a set of potentially challenging issues, is the obvious next step in providing more comprehensive delivery of information to clinicians to facilitate improvements in patient management and outcomes. Illumina’s protocol for offering individual genome sequencing by massively parallel sequencing in a clinical laboratory was developed responsibly, using current professional and regulatory guidelines, in conjunction with an independent ethics advisory board.
Copyright © Royal College of pathologists of Australasia. Unauthorized reproduction of this article is prohibited.