Commercial genome sequencing as ‘health screening’ launched

Philippa Brice

23 September 2015

Human Longevity, the company founded by Human Genome  sequencing pioneer Craig Venter, has announced plans to launch a new commercial genome sequencing service in the UK and South Africa.

Working in partnership with South African insurance company Discovery Ltd, Human Longevity will provide whole genome, whole exome and cancer genome sequencing for Discovery’s UK and SA clients via their Vitality Program, ‘behavioral wellness solution that helps people get healthier by giving them the tools, knowledge, access and incentives to improve their health’. Insurance providers are increasingly interested in promoting good health behaviours (for example, by providing personal fitness trackers such as the FitBit) – and incentivising them via reduced premiums.

The genome sequencing price tag for clients is set at just US $250, well below cost (even using the ground-breaking high-throughput Illumina HiSeq X-Ten). The two companies will also create new HLI Longevity Nucleus centres in both countries, modelling the one set to open in the US next month, where clients will receive a ‘complete biological and health assessment of themselves through genome, microbiome, metabolome sequencing, along with comprehensive MRI body scans and other more traditional clinical testing’.

To screen or not to screen?

Cancer genome sequencing is not really a form of health screening, since it is undertaken in the context of diagnosed cancer and compares tumour with non-tumour sequences; expert analysis of the genes that are overexpressed in the tumour can inform the choice of treatment. Similarly, whole exome or genome analysis in the context of searching for the cause of an existing disease is very different from a prospective approach.

Opinions are divided as to whether any form of ‘opportunistic screening’ is generally advisable, in part because of the risks of over-diagnosis, or of the psychological harms that might arise from unexpected discoveries. In terms of clinical genome analysis, an open-ended ‘fishing trip’ approach is even more complex because the current limitations of knowledge about whether individual genetic variants are harmful, benign or neutral in their health impact are very limited. However, the company may intend to apply only a gene panel approach, analysing a complete genome or exome sequence for a set of specific, clinically validated genetic variants linked with specific medical conditions and perhaps storing the full sequence for comparison with any future cancer genome sequences that may be produced.

Similarly, whilst there is considerable interest in the potential clinical applications of metabolomic and microbiomic analyses, the fields are in their infancy, especially microbiomics, and so the capacity for reliable clinical interpretation is limited.

A vision of the future?

Discovery Health CEO Dr Jonathan Broomberg said of the announcement: "We believe that this is a pioneering approach in global health insurance, and will enable us to provide our clients with the world's most advanced, current knowledge on their genetically determined disease risks, as well as on personalized health, wellness and medical treatment strategies”.

The increasing (and understandable) interest of insurance companies and employers in both promoting good health and preventing disease has already been noted. Whilst prevention is certainly better than cure – and whilst genomics offers increasing (but still limited) opportunities to improve risk prediction, disease prevention and in some cases treatment too – some concerns over this trend are justifiable. The Genetic Insurance Non-Discrimination Act (GINA) precludes health insurers from barring clients on the basis of genetic test information in the US; in the UK, there is a voluntary moratorium on using most genetic test results from the Association of British Insurers. But setting aside concerns about discrimination, could employers or insurers be profiting from persuading customers into genomic screening?

Personal genomics company 23andMe has similarly priced offerings, although they do not (yet) provide whole genome sequencing; one academic ethicist has said that effectively ‘people are paying to be volunteers’ in the large-scale research that the company is undertaking; this could represent more of the same. The de-identified genomic data generated by Longevity’s new programme will also be used by Human Longevity for ongoing research with global collaborators. This is not necessarily a bad thing, since the outcomes of such research are likely to be new medical insights and innovations – but there are undoubtedly profits to be made too, so appropriate consent processes are more important than ever.

Unsurprisingly, Longevity has no plans to share their data with the US government’s publicly-funded Precision Medicine Initiative.  Venter has reportedly said: “I think this notion that you can have genome sequences from public databases is extremely naïve…We’re worried there will be future lawsuits from people who were guaranteed anonymity who will clearly not have it”.