Genomic medicine promises have led healthcare systems to develop innovative new strategies, often in partnership with private firms such as General Electric or NHS Genomic Medicine Service. But these initiatives often include for-profit collaborations.
This article investigates how these strategies impact existing relationships, regulations and solidarity within public healthcare systems. Using the social contract as an analytical lens to explore and (re-)define balances between individual rights and collective duties.
Linked Lives
The UK’s world-leading genomics research and innovation can transform health and care services, with tangible advantages for patients. The Office for Health Improvement and Disparities (OHID), part of DHSC, leads the prevention initiatives within DHSC; working closely with UK National Screening Committee OLS Genomics England as well as our genomics delivery partners, to make sure the latest science is applied as swiftly as possible in improving preventive healthcare services.
This program will equip you with knowledge and skills about the foundations, techniques, and technologies of genomic medicine. Additionally, you will gain a range of tools for analysing genomic data in order to improve patient care outcomes and care delivery.
This MSc in Genomic Medicine will offer students an exciting immersion into genetic and genomic applications for medical care, with lectures, seminars, workshops on relevant genomic topics as well as practical wet lab sessions and computational learning opportunities delivered by academic and clinical experts from Oxford.
Based on lifecourse theory, the ‘Linked Lives’ lens demonstrates how genomic testing and results (or their prospect of) can alter, reshape or produce unexpected lifecourse turns. William and Maggie’s story highlights this effect; its reach may extend even to future grandchildren! Nicola’s early thoughts regarding family formation illustrate just how her genomic test may impact generations beyond her immediate family.
One of the primary focuses of NHS GMS is expanding access to WGS for people living with rare and complex conditions, particularly rare and complex ones. Their recent announcement that 20 additional clinical indications can now be tested through this service demonstrates progress being made toward meeting this commitment.
The national sequencing infrastructure – including Genomics England Biobank’s sequencing of 500,000 participants’ genomes, and NHS Genomics Laboratory Service’s genomic sequencing laboratory service – will continue to expand to ensure more people can benefit from this transformative technology. Together with digital pathology imaging AI developments, these expansions will further speed and accuracy diagnosis while simultaneously increasing researchers’ ability to use genomic and multi-modal imaging data in research to understand disease mechanisms, identify targets for new therapies and predict patient responses (Genome UK commitments 2, 3, 4 and 8).
Re-imagining ‘the patient’
Genomic discoveries are unfolding at an unprecedented pace, producing vast amounts of data which promises to revolutionize healthcare across all settings and sectors. With multifactorial diseases now becoming more commonplace, our greater understanding of interactions between genomic and nongenomic factors will pave the way for novel diagnostic and therapeutic approaches for common multifactoriality conditions.
Reimagining patienthood will be essential in realizing this shift. Traditionally, patients were seen as autonomous decision makers; this model can become inadequate when applied to fields like genomic medicine where genetic testing results have an impactful ripple effect across families as well. Professional guidance has increasingly stressed the significance of considering family members when engaging with genetic testing.
However, the challenge remains of communicating the findings to individuals. Our current system relies on written material, one-on-one face-to-face conversations and support groups for individuals to receive their results and understand what they mean for them – activities which may be time consuming, stressful and challenging to navigate.
As such, it is crucial that genomic information can be tailored specifically to individuals, with appropriate means for supporting them through their journey. General practitioners (GPs) play a pivotal role in this regard, as they serve as the main point of access for many.
Genome delivery into primary care continues to expand quickly. Genome plc, a genomics provider for UK Biobank and Our Future Health programs, recently conducted a trial called HEART that introduced genetic risk tools into routine cardiovascular disease (CVD) health checks performed in primary care involving over 800 participants. GPs reported finding this new approach easy to incorporate into practice and reported their patients greatly appreciated having this additional information at their fingertips.
NHS England is making progress toward making genomics more accessible to patients. Their genomic tests directory is being revised to expand eligibility, while NHS Genomic Medicine Service (GMS) is piloting cutting-edge sequencing technology such as long-read WGS to speed diagnosis of cancer patients and liquid biopsy (ctDNA) technology to integrate clinical pathology imaging with ctDNA in clinic settings.
The role of ethics in genomic medicine
Genomics poses ethical difficulties in clinical practice due to the vast amounts of data involved that must be shared among multiple patients and linked together. This requires us to review how ethical principles such as informed consent, non-maleficence and beneficence apply in this new context.
Genomic medicine also highlights the importance of reconsidering how individuals are conceptualised as patients. Traditionally, this role has been defined as someone with autonomy and independence – however fields like genomic medicine reveal its inadequacy due to many participants being affected by genetic information passed down through family lines; hence expanding this notion of “the patient” further (Dove et al. 2019; Gilbar and Barnoy 2018).
Genomic medicine requires a vast database of patient records. This raises concerns over who owns this information and whether it will be shared with commercial companies for profit-making purposes; many citizens have voiced their displeasure over such actions by companies with whom their data may be shared. According to surveys conducted, people are concerned about this use.
Engaging the public about genomic medicine’s implications will be essential, while making sure this engagement meets their concerns effectively. Both GE and PFMG have shown great enthusiasm in doing just this, with PFMG even creating an ethics advisory board as part of this initiative.
Both national strategies highlight the significance of compensating those who experience harm as a result of participating in genomic research, since harm may not always be immediately noticeable and could even have lasting adverse health impacts.
To better comprehend these complex issues, we conducted a qualitative longitudinal study that explored people involved in genomic medicine. We traveled along with participants as they navigated various stages of their genomic journey – from querying whether heritable diseases exist through to making decisions for and/or with relatives and receiving (certain or uncertain) results before living with them.
Conclusions
As we look ahead, genomic medicine promises to revolutionise healthcare. It has already fundamentally altered our understanding of many conditions’ biological underpinnings and caused an exponential surge in new diagnostic tests, therapeutics and interventions being developed.
As a system, it is imperative that we don’t fall behind in harnessing genomics’ benefits. The NHS is well placed to lead in genomics development and will gain from being at the forefront. However, it will require substantial investment of time and resources in order to fully integrate genomics within NHS healthcare services.
One of HEE’s first tasks is to develop a workforce equipped with the knowledge and skills to drive genetic medicine forward. In response, HEE has initiated the launch of an MSc in Genomic Medicine at Oxford, designed to educate students from diverse academic and workplace backgrounds on genomic science foundations, principles, technologies, applications and applications (Genome UK commitment 38). Students taking this course will acquire essential tools needed to use genomics for human health benefits (Genome UK commitment 38).
HEE is actively working to bridge the gap between research and clinical practice through monthly blogs exploring implications of genomic findings for healthcare, as well as by scanning horizons for any developments which might impact clinical practice. As a result of these efforts, these efforts are helping shape genomic education programs such as the expansion of Master’s in Genomic Medicine as well as new training frameworks (Genome UK Commitments 35 and 34).
Another area is patient engagement. UK Biobank, for instance, is expanding its public participation activities in order to effectively communicate with the 500,000 participants enrolled in its non-invasive prenatal testing programme for Down’s syndrome, Edward’s syndrome and Patau syndrome. They are exploring how best to integrate genomic data from these patients within the National Screening Programme (Genome UK commitment 17/18) while UKRI-MRC is working closely with delivery partners on creating an innovative functional genomics offer.
