Why genomic medicine needs bioinformaticians

Philippa Brice

30 June 2014

Bioinformatics has established itself as an integral part of biology and biomedicine in academia, particularly when managing the extraordinary mass of data generated from high-throughput experimental techniques.  It is essentially a field that combines elements of computer science, statistics and biosciences in order to effectively manage, mine, visualise and analyse large-scale biological and biomedical information.

Burgeoning interest and demand for bioinformatics is reflected in the growing number of specialist journals, training courses, national and international bioinformatics-data working groups, not to mention ever increasing recruitment efforts. In recent years, demand for bioinformatics and its practitioners has extended into healthcare, largely as a consequence of the ongoing translation of genomic research into applied, personalised medical applications.

In fact, many of the challenges around the clinical implementation of genomics medicine are intricately linked to bioinformatics, including the requirements for data storage and organisation, scalable data analysis pipelines, and the generation of accurate, reproducible results. As we highlighted in our 2011 report, Next Steps in the Sequence, developing bioinformatics expertise and infrastructure is increasingly essential for health services.

This also means that it is vital for bioinformaticians and healthcare practitioners to understand and appreciate the capabilities and limitations of each other’s specialties. Failure to do so could hamper both the successful delivery of genomic medicine and realisation of the ‘big-data’ revolution in healthcare.

Our first briefing note exploring the issue of big data for healthcare delivery. Defining the role of the bioinformatician,  describes the varied (and often misunderstood) roles of bioinformaticians; an illustrated example demonstrates the distinct contributions of bioinformaticians when developing and delivering DNA sequence analysis service in a clinical genetics laboratory. We also highlight some of the foremost considerations for policy makers and employers when trying to integrate bioinformaticians into existing and new health services and systems, and to maximize the application of their skills to deliver better patient care.