#EAPM: Đối mặt với tính kinh tế của bộ gen trong thời đại y học cá nhân hóa

The expanding and very swiftly moving world of genomics in health care has opened up many new opportunities, but evaluations have to be done on the economics of the new technologies, viết Liên minh Châu Âu về Y học Cá nhân hóa (EAPM) Giám đốc điều hành Denis Horgan.

The amount of data on genomes that could be shared promises to lead to almost-immeasurable advances in early diagnoses and the ability to give the right treatment to the right patient at the right time.

But there is also a clear need to provide value for money in cash-strapped health-care systems that are struggling with ageing populations, dealing with a new clinical trial paradigm in the wake of the discovery of more-and-more rare diseases, and collapsing under the weight of a huge increase in co-morbidities.

Tuy nhiên, bằng chứng cho thấy rằng các chẩn đoán ngày càng tăng và ngày càng được cải thiện thông qua việc sử dụng giải trình tự thế hệ tiếp theo và các đột phá di truyền khác, với chi phí giảm xuống và sự tự tin ngày càng tăng, được cho là khi công chúng nhận thức rõ hơn về tiềm năng cải thiện sức khỏe trong việc này và các thế hệ sau.

Yet overall costs still need to come down further, and a better data collection, storage and sharing infrastructure needs to be put in place.

But overall the EAPM believes that the signs are very good.

Of late, we have seen several genome initiatives, not least the UK’s 100,000 Genomes Project. Meanwhile, EAPM is calling for the launch of a co-ordinated, pan-European initiative which would garner crucial genetic information, further the networking of relevant repositories, make use of advanced digital technologies and have an immeasurable benefit when it comes to the health of current and future EU citizens.

quảng cáo

The Alliance’s MEGA concept (Million European Genomes Alliance) proposes the set-up of a pan European networked infrastructure for health information and to undertake a million genome flagship initiative as a coordinated effort across a coalition of willing European countries.

Under such a programme, researchers would potentially be able to access millions of genetic markers and accelerate science towards better understanding of diseases and specific patients.

Crucially, this would guide choice of therapy, prevention and screening programmes, increase overall healthcare efficiency, and boost patient outcomes.

Although health care is a national competence in the EU, EAPM has brought up the idea that participating member states should develop a genome project proportionate to its population. The project will take into account each country’s available resources, but as a concentrated effort could reach the one-million figure.

Benefits would include improving care across all stated health priorities and reducing current inequalities in access to innovative technologies.

It would also encourage deeper and broader collaboration across European researchers and provide a database of enormous lasting value, while also providing a positive vehicle for patient engagement on the use of health data.

On an economic note, it would also serve to stimulate the European life science and health industries and embrace new companies focused on the European market.

On the potential down side, despite the falling price of sequencing costs, it relmains a fact that bioinformatics analysis and clinical interpretation still carry significant challenges alongside costs that are not yet falling significantly.

Having mentioned the ‘economic’ note, we need to go back to the fact that the value of genomics needs to be measured, although there is still a large debate on how value should be defined in a medical context.

Health Technology Assessment (HTA) does its best to do this but is often not up-to-snuff. Indeed, a recent European Commission proposal on HTA outlines mandatory use of joint clinical assessments reports, after a three-year transition period in order to allow necessary medical bodies to catch up with a scientific arena that is moving forward quickly.

By the end of the transition period, “all medicinal products falling within the scope and granted marketing authorization in a given year will be assessed”. This also covers selected medical devices.

What the Commission is looking for in this case includes “patient-relevant health outcomes,” and a “degree of certainty” of those effects. The reality is that systems need to catch up with science.

Under the Commission’s proposal, HTA bodies in member states would be required to use the clinical assessment and “no repetition” of it in their overall processes.

Basically, a key aim of the new Commission proposal will be to reduce duplicated work across the bloc.

HTA certainly faces new circumstances created by specificities of the -omics technologies and personalised medicine. Genomics clearly falls right under this umbrella.

There is therefore a definite need for policymakers in Europe to increase the level of health economic assessment of genomic interventions, while ensuing that member states gain maximum value from molecular diagnostics in the healthcare arena.

While they are at it, policymakers could do worse than ensure that full advantage is taken of the infrastructure provided by initiatives such as the 100,000 Genomes Project, and MEGA once it comes to fruition.

The bottom line is that when it comes to health care, as in other areas, society needs to decide how to allocate limited resources effectively and ethically. Newly discovered rare diseases with their, by definition, smaller target groups, throw up major challenges, for example.

Yet there are is much evidence now available (and more doubtless on the way) that genetics is having a hugely positive effect in certain disease areas, such as various forms of cancer, inherited heart disease, and for those aforementioned rare diseases.

According to a recent report (the Annual Report of the Chief Medical Officer - S.C Davies, Generation Genome London, Department of Health 2017), in cancer, for example, genomic sequencing “can help reduce, or avoid treatment adverse events and reduce time delays in treatment selection”.

Much has been shown with the identification of the HER2/neu gene in breast cancer and the subsequent development of the trastuzumab (Herceptin®) drug therapy.

This has certainly raised the cost of the treatment of breast cancer but that is, for the most part, due to the cost of drugs for the 25-30% of women who test positive for HER2/neu.

While it is undeniably a pricey scenario, it has brought about “substantial clinical benefit”, while sequencing in colorectal cancer has actually saved money.

As for rare diseases, research has shown that around 1-in-17 people may, at some point in their lives, suffer from a rare disease (although many rare diseases go undiagnosed, so that figure is almost certainly on the low side). Meanwhile, four-fifths, minimum, of rare diseases have a genetic origin with half of all new cases being found in children.

The Chief Medical Officer’s report goes on to state: “For some rare diseases such as inherited heart disease, if effective treatments are available following disease diagnosis, sequencing could provide clinical and economic benefits”.

For certain, when it comes to genomics and economics, the debate will continue down the line, but EAPM is confident that, as the evidence begins to stack up, the ‘value balance’ will come down firmly on the side of the break.