The UK Government recently published a new genomic healthcare strategy. In doing so, it envisages creating the most advanced genomic healthcare system in the world and ensuring the UK remains a global leader in genetics and genomics. As such, it marks an important step forward in embedding genomics into mainstream healthcare and a shift towards much-needed preventative and precision medicine to reduce disease, pain, suffering and create healthier populations.
However, this published strategy does not go far enough in repositioning future healthcare strategy, policy and practice. Despite its aim to refocus the healthcare system more towards prevention, earlier detection of disease and promotion of well-being, surprisingly it makes only limited references to reproductive medicine and conception. By not fully articulating and integrating human reproduction and fertility treatment into future genomic healthcare strategy, it does not represent a truly cohesive approach; it needs to encompass the whole fertility continuum from pre-conception through to birth and future genetic legacy. As a result, its healthcare paradigm fails to take full account of the immensely powerful, multi-faceted and transformational nature of genomic technology that increasingly has the capacity to influence and redefine human reproduction and genetic legacy and not just mainstream healthcare delivery.
This new genomic healthcare strategy rightly recognises that we have reached a tipping point where it makes scientific, medical and economic sense to deploy genomics in UK mainstream healthcare. It identifies that genomics can help seriously ill children with rare genetic diseases, children with cancer and adults suffering from certain rare conditions or specific cancers. It goes on to explain that half of all people born in the UK will be diagnosed with cancer over their lifetime. Additionally, more than 6000 rare diseases will affect one in 17 people (six percent of the population) at some point in their lives. This equates to approximately three million people in the UK, with a single rare disease affecting up to 30,000 people. As such, this makes a compelling and readily understandable case for greater use of genomic science and medicine in UK healthcare now.
However, less than two of the 64 pages devoted to this new genomic healthcare strategy focus on human reproduction and assisted conception. Since our genetic identity is largely defined before and at conception as well as during pregnancy, this lack of detail and consideration is cause for concern. Concentrating on post-birth genomic healthcare application is like trying to shut the stable door after the horse has bolted. Whilst this published strategy does have significant merit in treating existing populations, the increasing benefits of pre-birth and pre-conception genomic intervention have been underestimated and overlooked in setting our healthcare strategy 'over the next ten years' and beyond.
The genomic healthcare strategy's lack of focus on human reproduction and reproductive medicine is a missed opportunity to bring about coherent reform and to lay out a new pathway which delivers end-to-end genomic healthcare. It needs to move from cradle to grave to pre-conception to grave. In doing so, this will create a strategy which delivers even better results leading to healthier people living better quality of life and less financial burden on healthcare providers. This in turn is likely to increase GDP and lead to greater innovation and development of society as a whole. Currently, the genomic healthcare strategy lacks focus and makes only limited reference to human reproduction and reproductive medicine.
Page 20 states that whole genome sequencing can help inform treatment decisions for patients 'as well as providing insight to parents into the potential risk of future children being similarly affected'. On page 21 it again briefly states that more patients will receive a diagnosis and 'more families will be able to make informed decisions about having children, and more new treatments will be developed to offer hope to those with currently untreatable conditions'. It goes on to reference expansion of newborn (ie, post-birth) blood spot tests for serious rare conditions on page 27. The only specific reference to reproductive genomic screening lies on page 28 which briefly acknowledges the role of non-invasive prenatal testing (NIPT) and PGT (preimplantation genetic testing). On page 30 there is a vague acknowledgement that over the next ten years we should 'explore how genomic testing can continue to be best used in reproductive medicine to support patients to make informed choices'. As such, this current strategy represents an evolution of the current mainstream healthcare paradigm rather than a revolution.
Further paradigm shifts in thinking are a fundamental requirement in effecting cohesive national genomic and healthcare strategy, policy and practice. The continued dismantling of 'silo mentality' to better integrate human reproduction and reproductive medicine into genomic healthcare strategy is essential. We would benefit from a top-level multi-disciplinary strategy group that operates on a continuous basis in the UK. Its remit would extend beyond that of the government's Scientific Advisory Group for Emergencies. It would shift paradigms and deliver enlightened assessments to inform law and policymakers and shape the future more quickly and effectively. In doing so, it would be tasked with driving innovation, identifying and mitigating risk with joined-up thinking between the healthcare, fertility, genomics, technology, science, education, economic and other UK sectors. A new Ministry for Genomics and Fertility, with a dedicated Minister providing unified future direction would also help develop new integrated national genomics, healthcare and fertility strategy and policy and root and branch law reform.
Whilst this new genomic healthcare strategy is a welcome development, it must not be the sum total of future UK healthcare policy. We must also include pre-birth and pre-conception genomic intervention in setting our genomic healthcare strategy 'over the next ten years' and beyond.