Ethical challenges for Generation Genome

Tanya Brigden

13 July 2017

In her annual report, Generation Genome, the Chief Medical Officer (CMO) brings together perspectives from leading experts, together with the CMO's recommendations, on how best to integrate genomics into routine clinical practice. The purpose is to establish the ‘genomic dream’ as a realistic and imminent prospect that can achieve real benefits for patients. Genomics has the potential to revolutionise diagnosis, screening, prevention and therapeutics, but to incorporate it into healthcare will require a shift in attitudes and expectations surrounding data sharing and confidentiality.

Ethics and the social contract for genomics in the NHS

The final chapter - ‘in many ways the most important’- outlines the structures that need to be in place if genomic medicine is to be ethically and socially acceptable. The realisation of the important benefits of genomics requires significant changes in the way in which healthcare is understood, organised and delivered. The CMO therefore calls for a ‘rethinking of the wider ‘social contract’ for medical practice and research in the UK’, which involves primarily the acceptance of a greater degree of interdependence between research, innovation and clinical practice. It will depend on a basis of mutuality that is not captured by current systems, and an understanding of the shared benefits and obligations that stem from sharing our genomic data.  

The chapter authors list four areas of medical practice where new ways of thinking will be crucial:

Consent

The CMO report suggests that traditional models of consent may no longer be appropriate given the uncertainties and open-endedness of genomic medicine. If consent to genomic testing requires full understanding of the minutiae surrounding the storage and communication of resulting data, then its validity may be called into question. For example, there may be future uses for our genomic data that are currently unknown. This begs the question - can a person provide a valid consent without knowing the full implications of what they are consenting to? The report instead suggests adopting a ‘broad consent’ which involves ‘entering a relationship with agreed ground rules about mutual responsibilities and rights’.

Confidentiality and the availability of the best care for patients and families

The report gives two reasons why the public are likely to support changes to current uses of patient information. Firstly, an overly strict interpretation of confidentiality may deprive patients of opportunities and ultimately limit their own healthcare. The sharing of patient information is vital in order to assess the significance of individual genetic variants, by comparing them with the norm. Additionally, an accumulation of genomic data may also allow clinicians to draw on familial information without any breach of confidence.

Obligations of health professionals, laboratory staff and researchers

As clinical care generates and relies upon the collection of data, the current distinction between research and clinical ethics will be redundant. As a result the duty of care owed to patients will extend to researchers and data managers, who co-produce information with clinical significance.

System responsibilities

Care must be taken to ensure accountable governance, data security and regulation. The uniqueness of our genetic data means that it can never be truly anonymous and so effective protections and controls must be in place to avoid its exploitation and specific provisions protecting against discrimination on the basis of genetic characteristics must be introduced.

Genomic dream or fantasy future?

The benefits of integrating genomics into our health service are undeniable. As outlined in previous chapters, analysis of large quantities of genomic data can increase accuracy of cancer diagnosis, accelerate diagnostic processes for rare diseases and enable us to move towards personalised prevention. As an international leader in the field, no doubt it would also add to the UK’s prestige.

However, it relies on blurring the lines between research and clinical care which historically have different ethical frameworks, thus requiring a shift away from the current models of informed consent and confidentiality - traditionally considered to be central to good medical practice. Despite the promise of an emphasis on data security, it is possible that the public will oppose the alteration of these patient safeguards.

Towards mutual benefits

The report urges patients to willingly sh are their data for their own benefit as well as others. It is a system based on mutuality, and undoubtedly there will be those who choose not to participate – out of concern for who will have access to their data, or a desire to retain control over their intimate information. But ours is not generally a society where we oblige individuals to help others. We do not compel people to donate blood or organs, even though it is mutually beneficial. Perhaps Wales’ recent adoption of a ‘presumed consent’ organ donation scheme indicates a shift towards a more reciprocal system of health.

There are also a number of practical concerns that need to be addressed. Are we able to establish a database and infrastructure sufficient for handling such vast quantities of genomic data? As technology advances, how do data curators make sure they keep ahead of hackers? What do we disclose to patients about their results? Results may vary in terms of clinical utility and actionability. Should results, for example, be returned if they cannot be acted upon?

The integration of genomics will drive the development of personalised medicine in the UK, but there are many questions which still need answers. Without these, it will be challenging to gain the public’s trust and support, repeatedly cited in the report as being of the utmost importance.