Ireland putting profit before people with genomic medicine strategy

State backing private company that will own genetic data of public patients

Our genetic code makes us who we are. Modern technology has now advanced to a point where we can trace many of our attributes back to our genes. This mapping is incredibly powerful, helping to identify with great accuracy who we are and where we came from.

Every human has several thousand pairs of genes carried on 46 chromosomes. The genes are made of DNA, chain-like molecules, with four different units called A, C, T and G. Each gene is a specific stretch of DNA, where the sequence of these units in the gene is the genetic information. The total sequence of DNA in a cell, about six billion units, is called the human genome.

This sequence differs slightly from person to person – some of these variations cause us to be different from each other, for example in blood group, skin colour or eye colour. Identical twins are “identical” because their genes are identical. Relatives resemble each other because they have many genes in common. Different ancestral populations have slightly different genetic variations. Some differences cause or predispose us to medical conditions – this is the field of medical genetics, which has grown rapidly over the past 40 years.

For the last five years or so it has been possible to characterise the entire genetic code of a person quickly and relatively cheaply. This is known as whole genome sequencing (WGS) and enables us to relate many medical conditions to genetic factors. This field is called genomic medicine.

Cancer treatment

WGS can, for example, be applied to the diagnosis and treatment of cancers. We now know that mutations in more than 500 different genes may predispose someone to cancer. In the future, planning cancer therapies may include a genomic analysis of the tumour to provide a personalised medicine for treating them. WGS will also be used to subcategorise many other conditions, and to choose treatments. This is a rapidly expanding field in which few doctors are suitably qualified anywhere in the world.

The Irish health service has been slow to engage with genomic medicine, placing our patients at an increasing disadvantage. In other countries, including the UK, genomic medicine has been incorporated into the public health system under four guiding principles.

1: The primary objective of genomic medicine is to enhance patient care within the public health system.

2: Doctors, scientists, hospitals and research institutions must be educated and funded in preparation for the important advances in genomic medicine.

3: Since the field is so new, there should be a strong focus on high-quality genomic research by clinicians and research scientists.

4: And finally, it is very important that genomic research work should be shared internationally. This allows medical researchers to collaborate with each other and with pharmaceutical partners who are engaged in new gene-based therapies.

While Ireland is behind other countries in the incorporation of genomic medicine into our public health system, there is already considerable expertise in genomics within the scientific and medical domains in Ireland.

For example, in 1989 TCD scientists were the first to map a gene for dominant retinitis pigmentosa (RP), a type of eye disorder. Because of this work, WGS is now used as part of a strategy to identify RP genes in 1,000 Irish patients and their families.

An Irish company, Genable, pioneered approaches to gene therapy for RP. Genable was later acquired by Spark Therapeutics, which has recently developed the first gene therapy to be approved for use in the United States and Europe.

In the case of motor neurone disease (MND), Irish clinicians and scientists have worked closely with international colleagues as part of an crowd-funded genome sequencing consortium called Project MinE. Genomic data from Project MinE is shared across all members of the consortium, and this data is accessible to other researchers (subject, of course, to data-protection legislation). Because of this policy of open data-sharing, the discovery of new genes for MND has been accelerated, and this work has underpinned one of the first clinical trials in MND that uses pharmacogenomics (using genetic markers to predict responses to treatment).

The success of these and similar projects in Ireland and abroad relies on invaluable assets: the co-operation and goodwill of patients to allow access to their clinical information; the skills of the publicly-funded clinicians and scientists; and the willingness of patients, clinicians and scientists to consent to allow their data to be published and used for bona fide scientific research.

However, despite these success stories, the Irish genomics landscape still needs a strong programme of sustainable public funding embedded within the public health system. We can learn from the National Health Service (NHS) in the United Kingdom, which is a leader in preparing for public genomic medicine.

The publicly and charitably funded 100,000 Genomes Project is focusing on obtaining WGS from UK patients and their families with single gene disorders and cancer. Gradually the project will extend to more complex genetic disorders. The NHS recognises the key role of research in genomic medicine, it is pioneering the use of genomic data in medical care (including the ethical and legal concerns) and it is developing links with UK genomics industry and is believed to be the largest national sequencing project of its kind in the world.

The UK strategy is based on the publicly-funded medical and scientific communities, and, critically, it is focused on patient care. Research foundations and pharmaceutical companies are contributing to the project.

The public engagement with genomics research in the UK contrasts starkly with the approach taken by the Irish authorities. To date, Ireland seems to have adopted an entirely commercial approach to genomic medicine. This approach places at risk the free availability of genomic data for scientific research that could benefit patients.

An example of this is the evolution of Genomics Medicine Ireland (GMI), a private company founded in 2015 to mine Irish genetic and medical data, with a clear and unequivocal intention to generate profit. The Irish Strategic Investment Fund (ISIF), directed by the National Treasury Management Agency, invested €11 million in GMI. It seems that the investment of public funding in GMI was considered as a purely commercial decision – there seems to be limited public benefit from companies such as GMI for patients, doctors, researchers or public institutions.

GMI was loss-making for the first three years. It was later bought by WuXi, a Chinese pharmaceutical company, with a further investment of €61.2 million by ISIF. WuXi is investing €325 million in a pharmaceutical plant in Co Louth.

Clinical information

GMI has expressed a desire to work in partnership with Irish clinicians. However, much of the medical information sought by GMI has been collected from patients in public hospitals funded by the exchequer at great expense – patient diagnoses and collection of meaningful information depends on the expertise of senior clinicians and specialist nurses.

Clinicians are being contracted and asked to obtain consent from their patients to transfer clinical information to GMI, along with a tissue sample for WGS. We understand GMI will pay for the additional hospital clinical costs required for the project. It will obtain the full genetic code for each patient (WGS), and it will analyse all the data. For the most part (with notable exceptions in some paediatric cases) there is minimal tangible benefit to the patient who participates in this programme.

It is important to realise that GMI will own all the clinical and WGS data that they have acquired from the health service, which is of considerable commercial value. GMI will also have complete control over the research and any outcomes. Participating patients do not appear to have access to their data held by GMI – and there does not seem to be a “right to be forgotten”, despite the commercial nature of the enterprise. Moreover, the genomic and clinical data may also be transmitted outside of the European Union, and thus will not be protected by the stringent data-protection laws within the EU.

Given the poor resourcing of research in the Irish healthcare sector in the current environment, it is not surprising that many clinicians have entered into contracts with commercial agencies such as GMI to avail of much-needed funding that can support research personnel. However, this arrangement also means that clinicians and their researchers are likely to be limited in their ability to carry out additional research using the GMI-funded data that has been obtained from Irish patients.

GMI, as a commercial entity, also plans to carry out WGS on 400,000 Irish volunteers. This could be a very valuable national database if it was freely available. However, it is unclear how this data will be used, and whether the data will be made freely available to other researchers, as would be the case in the UK genome project, or the Project MinE initiative.

The Government has made a very big investment in GMI. There may be a view that it is not necessary to provide any additional public investments in genomic medicine in Ireland. However, to those of us who care about the longer-term development of genomic medicine in Ireland, this would be a seriously short-sighted approach. One person in 20 will develop a genetic disorder in their lifetime and half of the Irish population will experience a form of cancer. These and many other patients should be able to benefit from a publicly-available genomics project that can drive new medical care in Ireland.

Genomic medicine is here to stay. We urgently need a properly governed genomics programme in Ireland that will ensure that Irish genomics remains within the public (non-commercial) domain, and that data obtained from Irish citizens will be used to benefit the entire Irish population.

With some adjustment, GMI, as an entity partly funded by the Irish taxpayer, could be part of this programme. But until we have an open discussion about how to integrate genomics, including commercial partners, into the public healthcare and research systems, there is a substantial risk that the Irish population will not benefit from the advances in genomics that are beginning to revolutionise medicine elsewhere. As is the case for many expedient decisions in Ireland, there is no doubt that future generations will hold us to account for short-changing them.

David McConnell is fellow emeritus in genetics and Orla Hardiman is professor of neurology at Trinity College