Day 2 – Workshop Presentations

Data CollectionIdentify and enable approaches to data

collection and use that better meet the needsof people living with a rare disease

Key messages

• The potential benefits of collaboration in data collection are vast. Standard approaches can reduce cost and time associated with data collection. Data can support multiple objectives.

• There are challenges to collaboration. Many of these challenges have been addressed in existing registries and we are confident we can learn from others in Australia and overseas.

• The group recommends a working party to formalise the best practice for funding, governance, functionality & implementation.

The potential benefits of collaboration in data collection are vast

• Collaboration• Leads to lower costs

• Multiple objectives• Tracking repurposed meds

• Post-marketing surveillance

• Inform models of care

• Inform clinical practice

• Value proposition

• Multiple parties• Clinicians

• Patients/carers

• Researchers

• Pharmaceutical companies

There are many challenges to collaboration

• Scope• Single registry• What is captured• Genome reporting

• Governance • Decision makers?

• Legal / Insurance

• Privacy / Ethical questions

• $$$ / Sustainable funding

• Accessibility• Language

• Incentives for participation• Compassionate use• Funded drug – compulsory?

• Quality of data• Consistency / standardisation

• Existing data sources• Company owned registries• E-Health• Medical records

• Consent• Parent for child

• Boundaries / case reports

Barriers to participation

• Clinical• Language

• Time

• Use in clinical care

• Patients/Carers• Building trust

• Organisation barriers• Ethics

• Ownership

• Informed consent

What are the examples we can learn from?

• Rare diseases• Rett

• CF

• IRDR

• Common diseases• Cancer registries

• Monash University registries• Cancer / trauma / etc.

The group recommends a working party

• Tasked with:• Investigate best practice for:

• Funding

• Governance

• Functionality

• Strategies to ensure adoption of best practice

Our suggestions to the working group

• Stakeholders• Patient Orgs, Researchers, Pharm Industry, clinicians, DoH, etc….

• Adoption• MoU / Charter for stakeholders to commit to

• Medicare item number for data entry• Standardises approach (Governance, ethics, etc.)

• Provides incentive

Research

Research priorities

• A central genetics centre of excellence in each state

• Set high standards for patient / carer involvement in ALL stages of research

• Get Fed. Government research grants to focus on rare disease – create separate applications

• Local health authorities need to follow national best practice guidelines under a national plan.

• Adopting a formal definition for rare diseases is important and should take into account more than just prevalence

• Targeted calls for collaborative research into specific areas

• Pharmaceutical companies will use Australia for research due to increased risk of reimbursement delays / rejection of medicines on PBS/ LSDP.

• Encourage Australian sites in international clinical trials – what are the barriers to this?

• Most patients prefer not to be called ‘consumers’ – we should listen to them.

• Involving patients, their families and the community in developing research strategies is a given, but we should ask them how they would like to participate, not tell them how you want them to.

• Rare Disease lends itself to international funding programs

• Encourage everyone in research funding roles to read “ Rare Diseases and Orphan drugs – The Key to Understanding and treating common diseases” –Jules Berman, published by Elsivier.

• Can the TGA pick up the ball again with providing a monitoring role of novel therapies for RD provided via the special access scheme of SAE, SOSARS in clinical trials.

• There are 2 sides to the case for RD research. I) equity issues – RD need a fair share of research ii) the science issue – RDs are the key to understanding and treating common diseases.

• Streamline ethics application and enrolment for patients to be included in international research/trials

• A cross jurisdictional approach should be encouraged. Informed by view and expectations of patients / donors / carers ie: evidence based.

• Given the increasing globalisation of biomedical research generally can we look at international harmonization / alliance in developing national research plan that has real values.

• Intersection of over biobanks and bionetworks to be conduits between donors / patients in rare diseases, the general public and researchers at a national and international arena.

• How to balance commercial interests with rare disease needs – provide incentive, longer patents.

• NHMRC to make rare diseases a ‘priority’ research area.

• Establishing registries and addressing data gaps is important but it must be coordinated with a clear objective

• Ensure the plan includes measurable targets so government can be held accountable, and the plan has deliverables.

• Encourage research by offering a different patent of longer term for rare disease therapy.

• Exome sequencing vs. whole genome sequencing

• Can Rare Voices work with NHMRC to increase funding or develop schemes for research of rare diseases?

• How can we make rare diseases a priority area for research and national interest?

• The 8% ideas – i) Ear-mark 8% of NHMRC and other funds for RD research (money investment) ii)Ask all universities to encourage / allow/ expect their researchers to put 8% of their time into something rare (time investment)

• Aim to establish a Rare Disease Registry, which consumers, industry, and regulatory bodies can access.

• Facilitate data collection for rare disease.

• LSDP: How can we produce enough evidence about life-extension if the number of patients is a challenge?

• Would there be value in developing an add on for clinical trials to offer a section for rare diseases translational research.

• Instead of spreading research resources why not focus funds and energy in one research body, eg: IMB with subsid. Labs in other states.

Key Words

• Equity

• Translation

• Funding

• Collaboration

• consortium

Catchphrases

• Rare Disease Research Benefits Everyone

• Rare Diseases are a Paradigm for diseases in general

Action Statements and Actions which are realistic and achievable

• To make rare diseases a national health priority, form a small sub-committee/lobbying group.

• Volunteers sign up here!!!

• Form a rare disease consortia to establish/design a project which is has widespread collaborative and

interdisciplinary buy in. To target the Medical Research Future Fund and Category 1 and 2 funders.

• Better coordination of existing R.D. registry. How to action this is still problematic. To ensure sustainability

of existing registries and biobanks. ELSI issues need to be addressed

• Promote and make better use of Orphanet.

• Agree on a definition, critical to all discussions/arguments

Diagnostics and Treatments: equitable access

Ensure Australia’s health system enables the development of diagnostic and treatments

• National rare disease plan should include an accessible framework that covers diagnosis and treatment throughout the life of the patient.

• The timely and efficient evaluation of diagnostics and treatments should be through a fit for purpose model with increased transparency. Input should be taken from experts in the rare disease, including nurses, patients, doctors.

• The approved diagnostics and treatments need to be nationally consistent, co-ordinated through centres of excellence, reasonably accessible regardless of location and adequately resourced.

• Optimisation is also required for patients to access treatments through available clinical trials.

Pathways to diagnosis• GP education

• Provide GPs the tools and skills to increase the diagnostic rate of rare diseases

• Promote involvement of the patient and the carers in the diagnostic and management decisions relating to rare diseases

• Institution of lifespan clinics• Ensure that diagnosis and treatment is equitable between paediatric and adult services

• Access to experts• Having rare disease expert centres throughout Australia

• Use a web based model for identifying centres of excellence (possibly rare voices site)

• The expert centres need to be responsible for developing best practice guidelines and supporting clinicians throughout Australia in the diagnosis and management of rare diseases

• Interstate co-operation• Patients should have an option to attend an interstate centre of excellence if there is not one

available in their current state

• Multidisciplinary Undiagnosed Diseases Program• There are places in each state which incorporate a multidisciplinary model to assist in diagnosis

• Publically funded genetic testing • (on the Medicare schedule)

• Including bioinformatics, clinical geneticists and genetic counselling

• Workshop for patient empowerment

• Focus on self-advocacy, or parental-advocacy for patient

• New born screening expanded

• Particularly where there are known and effective tests and treatments

• Cost analysis of the program should take into account the overall cost of delayed diagnosis and the associated care for a patient with undiagnosed rare disease

Funding model to incorporate pathways to treatment

• Fit for purpose model that is designed for rare diseases

• To get assessed you don’t have to fail another model first

• Streamlined, consistent and timely process

• Like the principles of the PBS with equitable access

• Needs to have a specific rare diseases evaluation process

• Needs to take into account the special cases of evidence in rare diseases

• Needs to include experts in the rare disease including nurses, patients, and physicians

• Broader Assessment of value (including community), not just cost effectiveness

• Not just about life extension, also about quality of life

• Require insertion of a rare diseases subcommittee in the Act

Working notes• System should focus on the fastest access to new medicines possible

• Efficiency of model, not reliable on a no somewhere else.

• System can be gamed currently

• Accessing value of product needs to be about a lot more than current focus on cost effectiveness

• Complicated pathways to navigate change and development of treatment (Pathways)

• Regional inconsistency of treatment availability (demographics, choice, distance)

• The evaluation proess for rare disease treatments needs to ensure

• National undiagnosed disease program linking all major hospitals (Plan for undiagnosed patients, particularly children)• Multiple types of undiagnosed patients, for instance chronic fatigue which people think they are affected

with. Patient groups with no diagnosed patients (lyme)

• Could also be patients which undiagnosed syndromes

• Concern that if funds are linked to diagnosis there could be a bias (disability support and education, NDIS)

• German style cap of 50,000,000 euro which is exempt from some stages of assessment. May encourage further development of orphan drugs with faster approval. • Would require a fundamental change in the approval process.

• Perhaps transparency for approval process

• Delay in inclusions of diseases on new born screening, results in late diagnosis and treatment of diseases• National consistency on what should be included on NBS

• What is included on the NBS panel

• Should NBS be only for diseases which have current treatment available? Or should it be for ones that research is ongoing?

• How is the cost benefit assessed? Do the eventual treatments counterbalance the overall cost of the testing.

• Equitable access reduces overall health costs

• Some parents end up having a second child with an affected disease before the first are diagnosed (restoring reproductive confidence and ability to make an informed choice)

• Psychological side of things as well, the burden of being diagnosed with an untreatable disease vs confidence of knowing what is wrong.

• Lack of testing later in life, if a disease was not diagnosed in infancy GPs are reluctant to test

• Cost benefit analysis are dangerous in that there are very complicated models which can prove multiple things.

• Development of a diagnostic algorithm aimed at a GP• Isabel diagnosis software

• Education as to what tools are available for diagnosis

• Implement funding for diagnostics and continue funding for rare diseases• Monitoring

• Availability of data for approval

• Pay per performance

• Principals for program• Different assessments for diseases

• Most drugs on the PBS are symptom controlling

• Need a fit for purpose assessment tool for drug assessment

• Some drugs have ended up in the LSDP by failing all other measures

• Stigma about life saving drugs, which is silly since we are all eventually going to die. ame as any other medication.

• Name of LSDP is contingent on the national plan development

• Want to include diagnostics, treatment, with a fit for purpose model increases transparency. Expert input into evaluations from nurses, patients, doctors

• Could be linked to companies who need to pay for diagnostic tests for drugs they have

• Shouldn’t the RD plan call from Exome sequencing to be available at not out of pocket costs.• Lots of out of pocket expenses for diagnosis by families

• Example of one family paying $60,000

• Refusal of access to doctors because of belief that its not useful as disease cannot be cured.

• Infrastructure requirements• Genetic counsellors

• Streamline ethics applications for participations in international research• Centres of excellence,

• Need to create a welcoming environment for clinical trials, cut down on expenses charged, ethics, ect.

• Access to treatment for austrlian patients into clinical trials

Coordinated Care

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1. Communicate powerfully - rare diseases miss out on equitable care

2. Integration of health systems, Coordination of patients.

3. Establish multidisciplinary care centres where all rare diseases catered for - remove

barriers to access to these centres- reimburse, zoning.

4. Joined up information systems/remove information silos 1. Between specialists, GP`s, allied health, patient organisations

2. Regional, national, global

3. Empower the patient and GP

1. Gold standard principles and models of care – all rare diseases

5. Virtual Centre of Excellence – national resource for clinicians (eg: LSDP Advisory

structure model?)

6. Better use existing resources eg upskill existing home infusion nurses to educate,

telemedicine

7. Create business cases for these system change - assess social and economic costs and

benefits

Key Messages – Coordinated and integrated care