A new policy paper sets out recommendations to advance the application of data science in genomics.
The US National Consortium For Data Science (NCDS) is a collaborative initiative intended to help harness digital data to drive improvements in science, healthcare and industry. It comprises academic, commercial and government experts working together to ‘address the data challenges of the 21st century’ by providing leadership in the development and application of data science, the systematic study of digital data.
The latest publication from the NCDS is a policy white paper on genomics. Data to Discovery: Genomes to Health
sets out the recommendations from a workshop held in April 2013 for experts in data science and genomics to consider the challenges and opportunities posed by genomics. They considered issues including data collection, management and sharing; defining phenotypes and determining genomic variants; analytical tools; and legal and ethical issues, before making the following recommendations for the US to:
- Foster interdisciplinary collaboration and coordination of genomics research.
- Advance widespread adoption of new standards, data systems and analytical tools for harmonization, integration and reuse of existing data sets.
- Promote data sharing while maintaining privacy, security and provenance through new data sharing technologies and incentives
- Develop new Clinical Decision Support systems that are automated, easy to use, stakeholder-driven and open source.
- Cultivate education and training initiatives in big data–based information technology, digital archiving, and analysis.
- Address bioethical and legal policies on issues such as incidental findings and the distinction between fair use and misuse of genomic data.
Although the NCDS has a wider remit than healthcare, these are very sound recommendations that recognise several key issues that must be addressed before genomic data can be used routinely in both ongoing medical research and patient care. Notably, the danger of overloading clinicians with too much data and not enough interpretation is emphasised, and recommendations for clinical support tools and education and training seek to counter this.
will no doubt find this paper from the US a useful perspective in their own plans to deliver 100,000 genome sequences and lay the groundwork for the introduction of personalised genomic medicine in the UK National Health Service (NHS). It follows news of ongoing UK investment in biomedical informatics
to underpin medical research
To discover in more detail why moving from genome sequence to clinical conclusions is not a simple process, read Clinical whole genome analysis: delivering the right diagnosis.