Realising the Potential of Genomic Medicine
It is 16 years since the achievement of one of the most critical scientific efforts that almost didn’t happen: the Human Genome Project.
Described by President Bill Clinton as “the most important, most wondrous map ever produced by humankind”, the mapping of the human genome was one of the most ambitious global research programmes ever undertaken, and a seminal endeavour in the advancement of scientific knowledge.
In the intervening 16 years, the landscape of human disease is being transformed through developments in the basic and clinical sciences, especially genomics and molecular biology.
As a result, we are now witnessing the rapid arrival of a new era of healthcare, one that is shifting from a curative paradigm, where the emphasis was on managing disease, to a pre-emptive paradigm, where the emphasis is on predicting and pre-empting disease using genomic information and molecular technologies.
Research efforts across academia, clinical research sites, public healthcare institutions and private companies are on the cusp of delivering the ‘holy grail’, the personalisation of medical care, or precision medicine, with the potential to achieve optimum medical outcomes for patients.
For example, genomic research has made it possible to identify an individual’s genetic inheritance and, combined with a research-based understanding of the molecular biological basis of disease, enables clinicians to predict the disease predisposition of individual patients.
With this knowledge, it is possible to tailor medical treatment to these predispositions, and to customise disease management to achieve optimum medical outcomes.
In time, this new paradigm will reduce the burden of disease, as well as the personal and societal costs of healthcare, by detecting and treating disease at earlier stages and pre-empting more serious consequences.
Critical to delivering precision healthcare to the patient will be the development of a robust Electronic Health Record platform combined with advanced genomic analysis which will pull together the disparate fragments of the patient’s genetic/genomic diagnosis and treatment into an integrated healthcare information package.
In the future, a significant amount of primary care that is delivered by general practitioners / community paediatricians will come from other healthcare professionals, equipped with secure access to the patient’s record and recommended pathways for diagnosis and treatment.
Therefore, it will be essential to train and equip all medical, nursing and allied healthcare professional for this new expanded role in the future of care.
The ultimate aim will be that the right patient receives, the right diagnosis, right treatment, at the right time and in the right setting; essentially, this is far more logical and more cost effective.
In the UK, one of many countries already advancing the integration of genomic medicine into healthcare delivery, the Government, through Genomics England, has already put in place a national genomics programme.
NHS England is building on the work of Genomics England, through its collaboration with a key commercial partner for data interpretation, to put in place the clinical infrastructure needed to deliver these advances at scale and pace to patients.
The clinical speciality of genetic medicine will change considerably over the next decade (as it has over the last decade) as genetic knowledge and technologies become a more integral part of the majority of speciality areas, including cancer, cardiovascular disease, prenatal, metabolic disease, neurology, paediatrics and infertility.
The potential that precision/genomic medicine could bring to our patients in Ireland is one we cannot allow to pass.
Our Government has already invested commercially in genomics through the Ireland Strategic Investment Fund (ISIF) but, to make it a reality will take a significant commitment at the healthcare interface.
Of course, we all appreciate that healthcare funding is under pressure. But not to invest — to do nothing — is the worst choice to make.
At present, the lack of preciseness in our understanding of patients’ DNA means that we waste money giving drugs to some patients who will not respond to such treatments. And beyond wasting money, we waste valuable time that these patients may not have.
Modern medicine needs to be research-led.
This can only be achieved through partnership and collaboration between government, academic research institutions, hospitals and private companies working towards the common objective of improving outcomes for patients.
Of course, we need to safeguard personal privacy through stringent GDPR and in so doing we are no different to other European countries.
So, consistency between Health Research Regulations and GDPR needs to be resolved – not shelved.
Precision medicine means that patients will not be subjected to current treatments that won’t work for them. Genetically-informed research will lead to new drugs and new therapies.
Patients in Ireland deserve to be part of this system.
Owen P Smith, CBE, UCD Professor of Paediatric and Adolescent Medicine, is also the executive director of the Genomics Directorate at Ireland East Hospital Group.