Discovery

Our understanding of genomics is relatively new. DNA discovery only occurred in the 1950’s and the mapping of the genome was officially sequenced in April 2003. We are still building on the genomic foundations that will dictate the prognosis of the disease and responsiveness to treatments.

The 100,000 Genomes Project launched in Britain in 2012 aimed at making the UK the first country to introduce genomics technology into the mainstream healthcare system. Its mission was to sequence and study the role our genes play in health and disease. The project has reached its target of sequencing 100,000 genomes. The data is being analysed to identify and catalogue genetic markers that could suggest a genetic disease.

We are still at the beginning of understanding our genomes and the role it plays in disease. Leaps and bounds in genome discovery have been made in a short space of time, but we still have a long way to go. We are yet to identify all possible genetic markers for disease across all different ethnic groups, develop appropriate treatments for disease prevention and disease management as well as improve accuracy of our genetic testing.

Barriers in Drug Development

Personalised Medicine has the potential to be cost effective compared to traditional healthcare delivery. Reducing costs associated with inappropriate and expensive pharmacological treatments and hospitalisation as a result of the disease and serious adverse drug reactions. “1 in 15 hospital admissions in the UK are linked to adverse drug reactions. The ability to predict and prevent their occurrence has significant potential to reduce burden on accident and emergency units and to significantly improve a patient’s experience.” – NHS.

In addition, traditional therapies for genetically linked conditions are effective in less than 60% of patients. This lack of effectiveness results in a huge loss for the healthcare industry and indicates a necessity for individually tailored treatments.

In clinical R&D, the costs involved in targeting smaller patient sub-groups is more expensive than traditional medicines, and with no guarantee that the healthcare system will adopt personalised medicines, there is understandably a reticence to move to such R&D.

Precision medicine is highly complex, and precise, and a uniform outcome is often not attainable. For example, Cystic fibrosis, a condition with two faulty or mutated CF genes has over 2000 known mutations in the genetic code of the CFTR gene. These mutations can cause different proteins to be produced and has resulted in over 1,200 different CFTR alleles that can cause the genetic disease. To try to “cure” this disease for every patient presenting each individual CFTR allele is a huge job for R&D. The more genes and alleles associated with a genetic disease, means longer timeframes to produce the data, and therefore more costly than traditional R&D research.

The expense of incorporating a host of new processes into innovative trial designs as well as the added cost of manufacturing cell and gene therapies has an impact on the list price of personalised drugs. In addition, companion diagnostics don’t come cheap. Identifying and validating biomarkers to guide targeted therapies is a lengthy task. Analysing vast amounts of data often requires larger patient pools and statistical teams with specialised knowledge – elevating costs further which can also impede investment.

The cost of precision medicine is also a central issue. For example, we understand tisagenlecleucel, which is an individualised cancer treatment offered to children with Leukaemia costs the NHS around £282,000 per patient at its full list price.

A Glimpse to the Future

The cost of precision medicine does not mean that it is a hopeless area. The speed and repertoire of diagnostics is increasing, and informatics advances are making discoveries and connections at an enormous pace.

Oncology is, by a landslide, the field that has been most impacted by developments in precision medicine. More than 70% of cancer drugs currently in development are precision medicines and around 90% of the top-marketed precision treatments approved in 2018 were cancer therapies. In the UK, the 100,000 Genomes Project reached its goal of sequencing 100,000 whole genomes from 85,000 NHS patients with cancer or rare diseases. Genomics England has noted that so far, analysis of this data has revealed “actionable findings” in around 1 in 4 rare disease patients, while about 50% of cancer cases suggest the potential for a therapy or clinical trial.

Precision medicine is changing the paradigm in healthcare delivery and changing the way pharmaceutical research is conducted. Currently 20% of pharmaceutical R&D is gene-based, and the number of personalised medicines available has increased by 62 percent since 2012.

Personalised medicine seems to be the future. Over time, as technology advances, the cost of individualised treatments will decrease, to allow more widespread adoption. However, for this path to unfold, pharma companies need to be innovative, not only in terms of the development of these treatments, but also in how it is priced and offered to the NHS.

For many of these personalised treatments, it is not just a pill. Treatments are often long, and require an extensive care packages wrapped around the treatment. Innovative pricing and service offerings are required. Here at LS Law, we have a team of experienced legal experts who have been directly involved in advising pharma companies with developing pricing and service offerings, and if you would like to tap into our expertise, please do reach out to us.