20 years ago, the completion of the human genome project heralded a bright future where precision medicine, informed by actionable genomic data, would deliver superior health and healthcare outcomes. While the benefits of precision medicine are becoming increasingly clear, more than half the world’s population has no access to precision medicine and there are still significant challenges to overcome before they can be realised on a global scale.
To identify and propose solutions to these challenges, the World Economic Forum (WEF) convened a group of 40 leaders from the public and private sectors, civil society and academia in the Global Precision Medicine Council. Dr Christina Waters, president and CEO of RARE Science and a senior advisor to Congenica was invited to join the group and played a pivotal role in creating the World Economic Forum Precision Medicine Vision Statement.
The review examined a number of projects including those in the UK run by Genomics England and supported by Congenica, and concluded that precision medicine's key barriers exist in policy and governance, not science and technology.
“This initiative is so important - we each respond uniquely to disease whether from genetics, environmental or infectious disease – and if we can test individuals to identify risk, severity of response and identify appropriate therapeutics – we could save so many lives and vastly improve health economics on a global scale,” says Waters.
The vision statement is designed to serve as a reference for the greater healthcare community with an interest in helping deliver the benefits of precision medicine on a global basis. The authors call a number of case studies that show examples of current best practice, and these include the Undiagnosed Disease Network (UDN) founded by the US NIH, The UK NHS and Genomics England projects such as the 100,000 Genomes project, and the Australian Genomics Health Alliance.
The report also identified and explored five key policy and governance gaps:
- data sharing and interoperability;
- ethical use of technology;
- patient and public engagement and trust;
- access, delivery, value, pricing and reimbursement;
- responsive regulatory systems.
Dr Waters led the creation of the policy position outlined in the data sharing and interoperability section which highlights how data systems that can capture and correlate volumes of standardized research with clinical and patient information are crucial for precision medicine approaches to healthcare.
The report highlights key case studies that demonstrate the value in the standardization of disparate data to determine relationships between genotypes and phenotypes, how interoperability across different standards can be achieved so that data can be shared and patient outcomes improved, as well as how to encourage patient engagement and participation in programmes which are especially important for rare and undiagnosed diseases.
“Sharing knowledge across organizations, countries and around the world will create more understanding about biology and can cascade into improved health and wellness outcomes around the world,” says Waters.
The WEF highlights four key points that drive successful precision medicine initiatives involving data sharing and interoperability initiatives, these include:
- Embracing the complexity of patient data analysis in the collective.
- Investment in the future through committing funding to data standards and interoperability can improve individualized care and health system economics.
- Stakeholder alignment at the level of data sharing principles, interoperability process and governance can be a foundation for groups that may have different objectives to work together.
- Patients/patient foundations as equal stakeholders are vital in driving precision medicine initiatives.
Waters points out that one of the biggest challenges is that data sharing and interoperability involves a discussion across the handful of countries that are capable technically of initiating such projects. However, more than half of the world’s population still have no access to genetically driven precision medicine and do not have the internal capabilities to fruitfully join cross-country programmes.
“Since countries differ vastly in terms of culture, healthcare and governance we need to provide a range of models that can be adapted while still enabling federated sharing of knowledge that comes from collective analysis – the importance of worldwide access and of addressing these inequities is urgent,” says Waters.
She highlights the UK’s NHS has done an amazing job at making genomic testing standardized and available for patients across the UK through Genomics England but highlights that for many rare genetic conditions, inter-country data sharing will be crucial.
A Pivotal Role in the 100,000 Genomes Project
To read more about how Congenica played a pivotal role in helping Genomics England deliver the 100,000 Genomes Project and was selected as the exclusive decision support platform for the groundbreaking NHS Genomic Medicine Service, click the button below.