– By Grace Girling –
Global Genomics Conference in May 2022 hosted a variety of discussions encompassing the policy and ethical considerations of furthering genomics’ widespread benefits to ensure they reach all pockets of global society.
Kye Gbangbola, former Chair of the Sickle Cell Society and central member of the Sickle Cell and Thalassaemia All Party Parliamentary Group, articulated the barriers to greater diversity in genomics in the first session of the in-person conference.
Kye works tirelessly to transform the current healthcare system into one which is equitable and accounts for everyone’s needs. His upcoming book “The Sickle Cell Guide” is a comprehensive source of extensive information on sickle cell disorder (SCD), to help organisations and individuals on their journey of understanding and better healthcare.
The treatment and care of Sickle Cell Disorder (SCD), an inherited blood condition which affects mainly people of African and Caribbean heritage, is a microcosm of existing health inequalities.
Currently, although it is the world’s most common genetic blood condition, there are just five approved treatments in the UK for a patient community of 15,000, compared to the 511 treatments for Cystic Fibrosis which has a patient community of 10,500. Kye immediately addresses that, “this is never about pulling anyone down, it’s about saying, what about us?”
Genomics offers the opportunity to ‘level up’; the primary concept of generating a fairer society. Hence, if the genomics ecosystem aligns correctly, this will have a profound positive impact on the Sickle Cell community through the development of effective treatments.
Following the conference and engaging in further dialogue with Kye, it is evident that advancing genomics carries the risk of continuing the trajectory of a healthcare system which sustains systemic inequalities. However, recognising and addressing such problems is achievable with the efforts of stakeholders from across the health and genomics ecosystem.
The meaning of genomics beyond science
The UK’s Life Sciences sector is at the forefront of the genomics revolution. Although it is clear that leading the advancement of genomics will solidify the UK’s position as a ‘Life Sciences Superpower’, understanding what this means for society, particularly marginalised communities, should not be lost through a myopic vision of this title.
For those living with SCD, genomics represents the opportunity of a life free from the unmet medical needs and daily burdens, such as ongoing physical and mental suffering, which result as the consequence of living with this inherited genetic condition. In addition to this, SCD patients face increasing multi-dimensional poverty, with over 66 per cent of people living with SCD in the UK living in the most deprived communities. Undeniably, genomics being applied to gene therapies will engender a much-improved quality of life for patients and their families.
If the human aspect is not convincing enough, genomics also has a huge economic case. As SCD results in regular hospitalisation of patients requiring resources from a myriad of disciplines, an effective, or even preventative, treatment would diminish the financial cost this necessitates – both on the patient and the wider health service. As such, the case has been made by Jonathan Salcedo, Jennifer Bulovic and Colin Young to show that a hypothetical cell or gene therapy for SCD is likely to be cost effective, with the large upfront costs being offset by significant downstream economic and human health gains.
However, diversity in genomics across the datasets and the wider ecosystem is crucial to the roll out of new treatments. Parallels can be drawn with Covid-19 with respect to health inequalities, felt both by certain ethnic groups and marginalised communities in and between nations as a result of underrepresentation in vaccine trials.
As reiterated by Kye, “Diversity should be a key trait of being a life science superpower.” To achieve this, systemic health inequalities and poor healthcare for marginalised groups must be addressed.
Health inequalities and equity in genomics
Currently, 40 per cent of people living with SCD fear going to hospital due to widespread poor care standards for the condition which carries a high risk of death. Following an inquiry into the preventable deaths of those living with SCD by the All Party Parliamentary Group on sickle cell and thalassemia, it was highlighted that race and inequality are at the root of these issues of poor care.
Raising awareness of this neglect is crucial in provoking systematic change in the healthcare system. The Sickle Cell Society’s report ‘No one’s Listening’ published recommendations based on this inquiry, which included high-level policy shifts to provide sickle cell patients with the standard of care and respect deserved.
As Kye emphasises, “Cell and gene therapies are here, delivering remarkable outcomes, people with sickle cell are being cured. These cures offer the opportunity to prevent and mitigate the harm that health inequalities cause. Genomics can act on communities as a key element of building and editing back better”.
If the purpose of the NHS Race and Health Observatory to remove health disparity could be embedded in health policy, we could avoid perpetuating the injustices of the past and move towards equitable healthcare for all in the future.
Design for equity and equality: Health is not just medical
Not only should equity be a key goal of the advancement of genomics, but the mitigation and elimination of existing health inequalities should be at the heart of the decisions taken by both the public and private sector stakeholders. Institutions should be continuously reflecting on how they can incorporate factors which will generate trust and alleviate public concern over accountability.
SCD is the world’s fastest growing, and most common genetic blood condition. People living with sickle cell are highly correlated with a lower socioeconomic status, this impacts health literacy, which limits the ability of this community of people to demand quality healthcare. This is a vicious cycle which can be tackled with initiatives to increase health literacy amongst disadvantaged groups, in turn this will also increase participation in clinical trials which will manifest into treatments with higher efficacy.
Presently, participation in clinical trials and research for treatments, including gene therapies, is hindered by the forms of employment marginalised populations are often engaged in which can be restrictive in terms of paid absence for participation. Specifically, individuals earning below 50,000 USD are 27 per cent less likely to participate in clinical trials.
These issues must not be side-lined, they must be at the centre of research design to provide adequate representation of marginalised groups. For example, positive action has been taken in the EU and in the USA to provide compensation as a component where work conflicts may act as a barrier to participation. This is particularly important for conditions such as SCD where diversity is imperative to the success of the research, resulting in an effective treatment.
Outlook for a fairer future
Genomics is the future of healthcare; however the present system is still not functional for all groups in society. The Sickle Cell community is just one example of a group which has faced decades of substandard care and lack of attention. As detailed, treatment for SCD would be beneficial in a multitude of ways.
In order to secure the UK’s position as a Life Sciences superpower, it is essential that health inequalities are recognised and not perpetuated by the cell and gene therapies that result from genomics research.
As stated by Kye “if we are serious about ‘‘levelling up,’’ we must acknowledge the misdeeds of the past and change policies and practices to create a fairer health service and ensure no one gets left behind.”
