What if the best form of prevention was the genetic test?
Modern societies today face the challenge of caring for an aging population that increasingly suffers from long-term illnesses such as cancers, and other chronic diseases that are costly to treat. This has been a major factor in the increase of healthcare costs that now constitute a real threat to the financial sustainability of healthcare systems worldwide.
It is likely that the old saying says that “an ounce of prevention is worth a pound of cure” may offer the best response to this threat. Indeed, in the face of these spiralling healthcare costs, it would seem that increasing society’s focus on prevention may be the only viable solution. It is in this context, disease screening and prediction must become the watchwords of any public health policy, taking a place as importance as diagnostics and therapy in the health system.
For this approach to take root, societies must find a way to effectively integrate preventive medicine approaches into their healthcare systems. A recent Australian study that examined the potential of genomic screening in prevention may offer some clues for how this may be achieved.
Today genomic screening is usually reserved for subjects with high risk factors which limits those who can benefit from such procedures. The Australian study[1], sought to better understand the impact of large-scale genomic screening on a population and thus assess its impact as a way of improving prevention in single payer healthcare systems.
The study revealed that, while screening for a single disease only makes economic sense if limited to high risk individuals, the same was not true of broader genetic screening approaches that simultaneously test for multiple conditions. Indeed, since performing genetic screening for multiple conditions costs little more than screening for a single condition, generalising these types was found to be medically cost effective on the basis of equivalent healthy life years gained. This means that though the net cost to society is higher when applying these systematic genomic screens, the patient benefit is seen to outweigh the cost according to generally accepted metrics of medical effectiveness.
The study went further, examining the impact of falling costs in genomic analysis on such a systematic screening programme. This question is of particular relevance given the rapidly falling cost of genomic analysis whose costs have halved every eighteen months over the past ten years. The study suggests that should the cost of genomic tests fall to 15% to 20% of current levels, such systematic screening would lead to net cost savings for healthcare systems, a level that could reasonably be reached within the next five years, especially if economies of scale associated with a nationwide effort came into play. Hence the impact of systematic genomic screening could lead to significantly increased patient quality of life while lowering overall healthcare costs; a golden opportunity for society.
So, as a society, why aren’t we racing as fast as we can to prepare for these types of systematic genomic tests? There are three practical limitations;
- More research needs to be done to validate the findings of the Australian research,
- Further cost reduction needs to be done on genomic screens to reach the cost points that are required for such
- Techniques allowing the sequencing of large volumes of patients need to be put in place for such national initiatives to take place.
Perhaps more important than these practical considerations are the ethical ones; A patient’s genetic information is the most personal and precise data that can be obtained giving insights into health, physical appearance and capabilities and much, much more. Unregulated use of such detailed personal information could lead to abuses selective qualification for opportunities to eugenics. These ethical issues cannot be ignored especially given recent debates on the use of personal information managed by social networks that have shown that the risks of misuse of such sensitive data.
However, given the explosion in degenerative diseases, cancers and other chronic diseases associated with the aging of the population, it would be irresponsible not to, at the very least, consider the benefits of systematic genomic screening as a society-wide prevention strategy. Perhaps the best approach would be to leave it up to the individual to decide on whether he wants to benefit from such genomic prevention approaches and how his data should be used.
With the implementation of the historic and ambitious RGPD regulations, Europe has demonstrated its ability to legislate to provide a flexible but effective framework for protection for all its citizens. We must now face a new challenge in trying to find the best way to manage sensitive genomic information in the context of large-scale genomic tests so that our societies can provide access to innovative prevention approaches that hold in incredible amount of promise. To this end, we must devise reasoned and controlled frameworks that govern use of genetic sequencing technologies in order to create an equally reassuring and ambitious framework for the benefit of public health.
Nicolas Philippe
PhD in bioinformatics
Founder of SeqOne
Translated from the French. This article first appeared in Les Echos, 23rdof September, 2019 under the title “Le test génétique, meilleur atout pour la prévention médicale”
[1]Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis, Lei Zhang PhD, et. al., Genetics in Medicine, February 18, 2019
