The last decade has witnessed unprecedented developments in the area of genomic medicine as genetic and genomic tests are being used more and more widely across UK NHS clinical specialities and are becoming increasingly part of mainstream clinical care.
In December 2017 the UK PHG Foundation published a report recommending mainstream clinical pathways be put in place by NHS England as part of the 100,000 Genomes Project. The 100,000 Genomes Project, led by Genomics England, is sequencing the genomes of 100,000 NHS patients and combining this with NHS data.
Whilst NHS Health Chiefs are embracing genomic science and its contribution to the transformation of diagnostic treatment in the practice of medicine, challenges relating to governance and regulation of genomic clinical services still exist.
Regulation of genomic medicine ensures safe practice and secures community interests by setting appropriate conditions and providing a structured framework for activities which in turn promotes public confidence.
Regulatory issues in genomic medicine that require further analysis include:
1. Medical referral pathways
The 2017 PHG report highlighted the need for clinical staff to have in place clear procedural guidelines and patient referral pathways as part of a multi-disciplinary team approach.
Clinical validity and utility of genetic research findings as in any other healthcare measure should be of significant importance before consideration of their clinical application. Appropriate mechanisms for the approval of tests for clinical purposes and quality assurances for laboratories and medical staff should have a regulatory framework.
Further discussions are welcomed on the issue of medical staff undergoing additional training to demonstrate a working knowledge of genomics as a prerequisite to holding registration for a licence to practise.
2. Informed consent and duty of care
Ensuring informed consent in genomic medicine is challenging. At present there is no clear position in current practice. Approaches which are informed by professional clinical judgment also have the potential to create significant differences in the standard of care, which could pose difficult questions for the standard required by law.
The practice of genomic medicine gives rise to three key legal questions within the law of negligence:
- Will there be a legal duty to provide secondary clinical findings to patients when discovered?
- Are duties owed to relatives as well as patients?
- Are duties owed by researchers and other professionals who do not normally have direct interactions with patients?
Medical staff often find themselves ill equipped with the necessary resources to understand the complexities of such legal issues. Further analysis on how clinical staff can best approach issues of negligence and consent is required.
3. Confidentiality and data protection
The General Data Protection Regulation (2016/679) (GDPR) will come into legal force on 25 May 2018. The scope of this Regulation will include pseudonymised or coded data for the first time and require special protections for certain types of information, including genetic and biometric data, setting more onerous requirements for lawful processing.
As genomic data is generated as part of healthcare, the laws relating to confidentiality also apply. Dame Fiona Caldicott, the national data guardian for health and care, has emphasised how data sharing can enable better, safer care through implementing a 7th Data Sharing Principle – ‘the duty to share information can be as important as the duty to protect patient confidentiality’ – and has recommended the adoption of revised security standards, model consent and opt-outs to streamline and legitimise use of personal identifiable data (including some genomic data) for secondary uses including research, audit and education. Such advancements to protect genomic data are necessary to ensure confidentiality remains paramount in patient care.
Cliodhna McDonough is a qualified clinical dietitian and a life sciences regulatory lawyer at Stephenson Harwood