13 January 2015
Is there a tension between public health and genomics? In a recent article published in Public Health Today Dr Hilary Burton, Director of the PHG Foundation, argues that integrating genomic science into health systems is essential to provide effective, efficient and high quality care in the 21st century.
Genomics is at the forefront of a technological revolution in biomedicine. As the costs of sequencing human and pathogen genomes are falling rapidly, the once futuristic vision of personalised medicine is fast becoming reality. The question is not ‘Can we afford to spend money on genomics for population health?’ but ‘Can we afford not to?’
In health protection, genomic analysis allows very fast and precise identification of pathogens and their characteristics. We can now rapidly identify the source of an outbreak, whether MRSA in a healthcare setting or Ebola Virus Disease in West Africa, track transmission and design tailored interventions. This is vital to combat the rising spectre of antimicrobial resistance and improve infection surveillance and control.
Screening allows detection of both common and very rare genetic conditions, through programmes such as newborn screening for inherited metabolic disorders or testing patients for gene mutations associated with familial breast cancer or hypercholesterolaemia. This informs interventions to improve health outcomes and reduce future disease risk (such as prophylactic mastectomy or statin treatment). It can also identify unaffected family members who share a significant genetic risk.
Designing personalised cancer treatments tailored to the genetic features of a tumour is already current practice. Soon, genomics will similarly transform and personalise cancer screening by improving stratification, pinpointing more accurately within a population those at greatest risk of disease using genomic markers. This has potential for economic as well as health gains through targeting resources to populations most likely to benefit.
These examples show some early applications of genomics in healthcare. We might think that these don’t apply to us or our patients, but we all have genomes. We are all a product of our environment – social, behavioural, cultural – and our genes. Our understanding of the complex interactions that underpin human susceptibility and resistance to disease is just beginning, and the key to this knowledge is genomics.
This is the premise of the massive financial investment by the UK government in the 100,000 Genomes Project. Genomic data may ultimately deliver not only better disease prevention and personalised medical care, but also underpin a fundamental shift in how we understand health and disease. Public health practitioners have a potentially pivotal role to play in ensuring that genomic insights and applications are used in the most equitable and efficient ways to benefit populations.
Like King Canute, we in public health cannot stand against the tide. Shall we ride the wave of genomic understanding, or will we be swept away?