Modern molecular diagnostics, high-throughput sequencing and data analytics hold the potential to provide faster diagnosis and more effective treatment. Precision medicine is an emerging approach for treatment and prevention that is tailored according to variability in genes, environment and lifestyle of an individual rather than the more common “one size fits all” approach. The effective delivery of precision medicine will require new and improved IT and decision support systems and will need healthcare to change how it is organized and how staff are educated. The successful implementation of precision medicine promises higher diagnostic rates and more effective treatments with reduced adverse reactions. If managed carefully, this can be done without increasing costs.
Promoting precision medicine
Recent developments in technologies such as high throughput sequencing, bioinformatics, data analytics and medical imaging increasingly allow tailoring of clinical decisions, practices and products to the individual patient. Beyond offering treatment based on averages from controlled studies, the patients can receive treatment based on experiences from the treatment of similar patients. This approach is achieved by collecting large amounts of data, from biomarkers to environmental factors, making them available for analysis and bringing the synthesis to the point of care.
Precision medicine is not just a technical venture, it also challenges traditional workflows in healthcare. Organizational knowledge and data are necessary for providing effective and safe healthcare services as the amount of new knowledge exceeds the individual capacity of clinicians and healthcare providers.
The necessary infrastructure must be developed to facilitate all aspects of data capture, analysis and application, including the sharing and secondary use of clinical and real-world data. Reimbursement, privacy regulations, diagnostics and pharmaceutical development all face challenges. The transition towards precision medicine requires the involvement of and contributions from a broad range of stakeholders, including politicians, clinicians, patient groups, academia and industry.
Our engagement in precision medicine
DNV GL has a commitment to improve safety and quality in healthcare. Our Precision Medicine team is working with innovation partners to explore quality assurance, harmonization and data sharing issues around clinical genomic pipelines designed for addressing rare diseases.
Explains Bobbie Ray-Sannerud, programme director for the Precision Medicine programme in DNV GL´s Group Technology and Research (GTR): “The transition of next-generation sequencing technology from research to routine diagnostics in the clinic is a process which has proven difficult. Misunderstanding key results or limitations can lead to incorrect therapeutic decisions, directly impacting patient safety. The precision medicine program at GTR supports DNV GL in identifying the roles of which we can best support health organizations and stakeholders in the wider digital health space by developing knowledge, technologies, and business models that contribute to the safe and sustainable clinical implementation of precision medicine to improve the quality of care for the benefit of patients.”
Big Data in medicine
DNV GL has been involved in the Big Data in Medicine (BigMed) project together with Oslo University Hospital and other academic and industry partners. The project aims to promote development, technology and services with advanced computer science, and to lay a foundation for implementing precision medicine and big data analytics in healthcare through ICT solutions.
As part of BigMed's activities on genomics and data sharing, DNV GL has worked with project partners to develop the Trusted Variant eXchange (TVX). The TVX enables labs to manage and quality control their variant classifications. They can share these classifications, and the evidence behind them, with trusted partners in a secure environment, while maintaining control of their data. TVX continuously tracks discordances in classifications, and alerts labs to these events.
Nordic Alliance for Clinical Genomics
DNV GL is also one of the founding partners and secretariat for The Nordic Alliance for Clinical Genomics (NACG), an independent, non-governmental, not for-profit association with the mission to work together to learn from each other to lift performance standards. NACG has the aim at responsible sharing of trustworthy data for improved diagnosis and treatment, and as a resource for research. The latest outcome of this initiative is a report on clinical reporting of NGS data.
Want to learn more about the work DNV GL and partners are doing to enable precision medicine in healthcare? See our publications