PACEOMICS situates its research in a real-world context by focusing on six case studies. Case study research allows the PACEOMICS team to engage with PM stakeholders to ensure that their needs and interests are met, especially as PACEOMICS develops practical outputs. The insights and tools constructed in each of the four research areas will be developed and tested using one or more case studies to ensure real world relevance.
PACEOMICS disease case studies have the following characteristics, enabling us to understand similarities and differences and the implications for the applicability and value of the PACEOMICS outputs:
- Rare and prevalent diseases;
- Non-communicable and infectious diseases;
- Good outcomes under current care and poor outcomes under current care;
- Large headroom and small headroom for benefit from new technologies;
- Terminal and non-terminal;
- Existing biologically active treatment and no biologically active treatment; and
- High cost treatments and low cost treatments.
These case studies represent disease areas in which there are a variety of existing and potential technologies, including technologies at different stages of maturity to market, as well as different types of technologies (e.g. gene therapy, combination therapy and companion diagnostic treatment).
The case studies enable PM approaches to be assessed against existing therapies within a disease area, providing crucial information for technology developers about the available “headroom” for a new technology. For indications which have been neglected for the past 15-20 years, the potential headroom for a new technology is likely to be relatively large; whereas for indications in which there have been recent advances, there is likely to be relatively little headroom. It is worth noting that the concept of headroom to be used in PACEOMICS considers the scope for improved outcomes, reduced costs or some combination of the two, rather than merely the scope for improved outcomes. Where the headroom is small, the probability of achieving a competitive return on investments will be low. Conversely, the expected value of further R&D in technologies with greater headroom is likely to be higher.
Our disease case studies are:
- Prevalent disease, with mid to late-life onset, which is largely curable.
- Has the most mature PM technologies.
- Has driven legal and regulatory developments in PM.
- Has a highly engaged patient community.
- Few good treatments, with a reliance on older chemotherapies with limited effectiveness.
- Very poor outcomes, so a relatively large ‘headroom’ for new technologies.
- Multiple causes including infectious disease and health related behaviours
Type 1 Diabetes
- Has an existing inexpensive treatment, so little ‘headroom’ for new technologies.
- This lack of headroom is mainly due to the comparator being very cheap, rather than the more conventional reason that there is little further capacity to benefit from treatment.
- PM technologies include cell-based therapies and a PM vaccine.
- Rare diseases with no existing therapies.
- Long term substantial disability but not fatal.
- The eye is an immune-privileged site for gene therapy. Side effects are infrequent with current surgical delivery techniques, enabling gene transfer and cell therapies.
Long QT Syndrome
- Rare disease, in which diagnosis often occurs following a fatal or near fatal event.
- Established, effective but expensive treatments available (moderate ‘headroom’?).
- Raises interesting legal issues with respect to cost and access to genetic testing and its benefits in addition to family histories.
- Infectious disease with a substantial clinical need, a large socio-economic burden, and a limited set of current treatment options.
- Some clinical advocates are already arguing for a national birth cohort screening program for the disease.
- New treatments for Hepatitis C have recently been licensed, and a substantial number of new therapies are expected to reach market over the next 5 to ten years.
- New treatments are facing significant reimbursement challenges.
- Timely to develop expertise around the efficient translation of treatments for this disease.