The US National Human Genome Research Institute (NHGRI) has released a strategic plan for the next decade that sets out ‘the path towards an era of genomic medicine’.
Published to coincide with the tenth anniversary of release of the first draft human genome sequence, the paper is titled Charting a course for genomic medicine from base pairs to bedside. It says that the last decade has heralded great progress in understanding the structure and biology of genomes, whilst the next decade must focus on understanding the biology of disease, improving the effectiveness of healthcare, and ‘advancing the science of medicine’. This latter area is defined as distinct from the practice of medicine, ie. heathcare delivery; genomic discoveries are anticipated to lead to improved diagnostics, therapeutics and clinical decision-making tools, as well as ‘an evidence-based approach for demonstrating clinical efficacy’.
The inevitable delay in clinical translation due to the requirement to demonstrate efficacy is also noted, along with the need to engage with regulatory processes and for ongoing health professional and public education and awareness of the potential and limitations of genomic information. The essential requirement for multi-disciplinary input to the ongoing analysis of societal impacts of genomic research and medicine is also noted, along with a range of issues requiring attention ranging from regulation of genetic testing, pharmacogenomics and genomic therapeutics to ethical and philosophical considerations.
Many practical challenges are also highlighted, most notably the need for computational innovation to meet the demands for data capture, analysis, integration and visualisation that are rapidly becoming the rate determining step in genomic medicine as sequencing methods become ever faster. There is also a corresponding need for improved technological infrastructure, and increased professional capacity in bioinformatics and computational genomics.
Other promising prospects for the future include the development of novel therapeutics based on improved understanding of disease pathology and classification, and the increasing use of stratified medicine – using genomic information to define sub-populations in whom therapeutics are expected to produce more beneficial results for targeted clinical trials and treatments.
Overall, the paper sets an optimistic but very realistic tone, referring to the ‘staggering challenges’ ahead and the need ‘to balance ambition with reality’ – in contrast with the grandiose claims at the beginning of the human genome project, when it was hoped that the monumental achievement of deciphering the genome would herald an immediate switch to the new era of genomic medicine. We have the same goal as before – a future where medicine is underpinned by a profound understanding of the basis of genomics in health and disease. It’s just that we can see that the road ahead is longer and more winding.
Interestingly, although the paper refers only to ‘medicine’ and not ‘public health’, many of the domains discussed are very firmly within the compass of applications at the population, as well as individual, level – diagnostics, prognostics and decision-making tools, for example. Over time, the concept of ‘public health genomics’ may become redundant as genomics is embedded firmly within all forms of preventative and therapeutic medicine.