Consumer Expectations of Genomics Applications
Celine Lewis
A charity registered in England and Wales (no. 1114195) and in Scotland (no. SC039299).
A company Limited by Guarantee (Number 05772999)
Genetic Alliance UK
• Alliance of 160 patient organisations
• Single gene and common complex disorders
• Intractable, incurable, life limiting
• Research the route forward
• Translation essential
• Sustainable, affordable, equitable solutions to unmet health
needs delivered in a timely and appropriate manner.
A charity registered in England and Wales (no. 1114195) and in Scotland (no. SC039299).
A company Limited by Guarantee (Number 05772999)
What do we do?
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Create the critical mass
Formulate a coherent message
Generate the evidence
Strategic advocacy from a patient and family perspective on
science and health policy and practice at national and
European level
• Collaborative – side by side, not in your face
A charity registered in England and Wales (no. 1114195) and in Scotland (no. SC039299).
A company Limited by Guarantee (Number 05772999)
The promise of genomics.
• Insights into the genetic component of common diseases
• Targeted therapies that deliver health gain and reduce risks
of serious adverse events
• Focussed health promotion and disease prevention
• Patient and citizen empowerment in health decision making
• Better use of resources
• Economic benefit
A charity registered in England and Wales (no. 1114195) and in Scotland (no. SC039299).
A company Limited by Guarantee (Number 05772999)
Patient and family anxieties
• Triumph of “hype” over hope
• Too complicated
• Law of diminishing returns as diseases fragment – the search
for low hanging fruit
• Too expensive
• Not sustainable
A charity registered in England and Wales (no. 1114195) and in Scotland (no. SC039299).
A company Limited by Guarantee (Number 05772999)
A Framework for Progress
• Sustainable research and development - how long things
take and the natural history of ideas.
• The “Gene Park” example –England and Wales contrasted.
• Reconciling different time frames (patients, academics,
finance directors, CEOs, politicians, investors, the public )
• Risk/benefit approach to ethics and governance
• Appropriate and proportionate regulation
• Comprehensive and comprehensible HTA
• Future-facing organisational infrastructure
• Skilled and knowledgeable workforce
A charity registered in England and Wales (no. 1114195) and in Scotland (no. SC039299).
A company Limited by Guarantee (Number 05772999)
Rare diseases as a model
• Biological similarities that simplify discovery
• Political and policy frameworks to support and target
development
• The Orphan Medicinal Product Regulations
• Incentives- 10 yr exclusivity; abolition of regulatory fees.
Since 2000, over 1000 orphan designations
• Committee designed to sort ‘wheat from chaff’
• Success – 1000+ designations and c.70 authorisations
• Cross Border Health Care Directive – Centres of Expertise
• EU Committee of Experts on Rare Diseases – ‘Clinical Added Value
of Orphan Medicinal Products’ framework so clinical added value
can be established once rather than 27 times in 27 states
A charity registered in England and Wales (no. 1114195) and in Scotland (no. SC039299).
A company Limited by Guarantee (Number 05772999)
The Contribution of Patients and Families
• Insights into disease – what matters, not just what can be
counted
• Changes in regulation – The GA-UK Citizens Jury
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Greater recognition of psychological factors
Benefits and risks they are prepared to take
Contribute to planning of trials so research fiits in with their lives
• Recruitment and retention
• Partnership in uptake – advocacy
• Sustainability through public understanding – an issue worthy
of investment
A charity registered in England and Wales (no. 1114195) and in Scotland (no. SC039299).
A company Limited by Guarantee (Number 05772999)
Making it Happen
• Partnership not Hierarchy – overlapping expertise but
patient provides unique perspective in development of
therapies
• Transparency
• Robustness – stacks up to clinical examination
• Relevance – understand the relevance of our contribution
• Equitable – ensures diseases are not competing
• Appealable – can challenge
• Sustainable over time and between diseases
The Cancer Drugs Fund – set up with £3 million so patients could access innovative
drugs for cancer not yet ‘NICED’; what about other diseases?
 Dutch funding for Enzyme Replacement Therapy for inborn errors of metabolism.
A charity registered in England and Wales (no. 1114195) and in Scotland (no. SC039299).
A company Limited byThreat
Guarantee (Number
of 05772999)
withdrawal challenged by patient groups.
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Insights have created opportunities
Carpe diem
Because we’re worth it
Thank you
celine@geneticalliance.org.uk
A charity registered in England and Wales (no. 1114195) and in Scotland (no. SC039299).
A company Limited by Guarantee (Number 05772999)