Charting the quest for inclusion of ethnic minorities in UK Biobank
As a PhD student, I often volunteered for research studies either as a favour for a friend or for the extra cash. At the time, I had never given much thought to the fact that the data obtained from me might be specific to my ethnicity. More recently, I was surprised to discover that there is no formal legal mandate to include ethnic minorities in biomedical research in the UK, the argument being that at a genetic level, all humans are almost identical. Yet there are clearly diseases that disproportionately affect ethnic minorities. For example, Sickle cell disease is an inherited red blood cell disorder that is mostly found in individuals of African ancestry and individuals of Asian ancestry are at higher risk of developing type-2 diabetes than their European counterparts. Treating and preventing disease in all individuals irrespective of ethnicity is a key goal of a global resource known as UK Biobank, but did their selection of study subjects really reflect this?
Not your average bank
UK Biobank is an example of the good that can happen when scientists and clinicians collaborate across institutional borders. It contains biological samples from just over five hundred thousand participants, which will be used to determine what factors are important for developing specific diseases. UK Biobank was established by the Wellcome Trust, Medical Research Council, Department of Health, Scottish Government and the Northwest Regional Development Agency. The biobank also receives funding from the Welsh Assembly Government, British Heart Foundation and Diabetes UK. Housed on an industrial estate in Stockport, Greater Manchester, UK Biobank is an unprecedented initiative.
In the summer of 2009, under the direction of its Deputy CEO Dr Tim Peakman, research staff started working side by side with pre-programmed robotic arms to sort, process and analyse millions of collected samples. This work would not be completed until the summer of the following year. The samples are currently preserved at ultra low temperatures — well below freezing — in liquid nitrogen and will be kept in this state for around 24 more years. Each sample is linked to an individual’s National Health Service number, allowing scientists to investigate the effects of lifestyle and an individual’s genetic makeup on the causes disease. This is the most detailed study of this nature ever undertaken.
The road to inclusion
People are most likely to fall ill with complex, serious illnesses such as cancer, heart disease and diabetes between the ages of 40 and 69. Therefore tissue samples were collected from nearly equal numbers of men and women from all over the UK that specifically fall into this age group. However, there were growing concerns about poorly represented ethnic minority groups from UK Biobank’s Ethics and Governance framework, which was set up to ensure that research was scientifically and ethically sound. These concerns resulted in the creation of an Ethnicity Recruitment Sub-Group, which was tasked with ensuring that UK Biobank’s recruitment drive took the ethnic diversity of the UK into consideration. In the 2001 census for England and Wales, 91 % of those who took part defined themselves as Caucasian, while the remaining 9% identified with an ethnic minority group. The Sub-Group encouraged the setting of targets to match these numbers and although a perfect match was not achieved, the Sub-Group had successfully ensured that a significant number of ethnic minority individuals were included in the project. In the end, UK Biobank’s Caucasian recruits were at just over 94%, with ethnic minorities represented by the remaining 6 %.
Ethnic minorities are frequently suspicious about getting involved in biomedical research studies. A report for the Wellcome Trust and MRC entitled ‘Public Perceptions of the Collection of Human Biological Samples’ suggests that some ethnic minorities, particularly first generation immigrants, are unlikely to take part in research projects due to suspicions they hold on the motivation of those carrying out the research. Although there was nothing to suggest that UK Biobank was unethical in its approach, controversies surrounding other organisations may have contributed to these suspicions. For example, a British citizen of Nigerian heritage may remember only too well that during a meningitis epidemic in Northern Nigeria in 1996, Pfizer treated some of those children with the experimental drug trovafloxacin for which, it was claimed, proper informed consent by the children’s guardians was not obtained. It was also alleged that some received a dose lower than recommended. Eleven children died and many more suffer from life-long disabilities. Furthermore, a British citizen of Indian ancestry may remember the media storm surrounding the drug nordihydroguaiaretic acid (NDGA), which was tested on 26 cancer patients in 1999/2000 by scientists from Johns Hopkins Hospital in the US before safety was established in animal studies. The patients were completely unaware that they were involved in a clinical trial and they were unaware that they were being denied established treatments. Two patients subsequently died. Understanding these issues, the Ethnicity Recruitment Sub-Group set out measures for using mobile clinics to target specific geographically-clustered ethnic minority groups (such as the South East Asian community in Bradford, Northern England) that could be both educated on UK Biobank and recruited to provide samples. The Sub-Group also set out measures for translating information on UK Biobank into different languages. These measures were essential in achieving timely recruitment.
The importance of the Ethnicity Sub-Group was highlighted in a report entitled “Biobanks and the Inclusion of Racial/Ethnic Minorities”, by Dr Richard Tutton at Lancaster University. Tutton noted that there was certainly support for racial inclusivity from scientists involved with UK Biobank since this could allow for very important studies of illnesses that disproportionately or exclusively affect specific racial groups that live within the UK. However, the report also highlighted doubts the scientists had on the importance of inclusivity, given that genetic variation is greater within populations than between them and consequently, findings from relatively small ethnic minority sample sizes might lack statistical power to make meaningful conclusions. This concern was clearly unjustified given that publications using UK Biobank data have already revealed considerable differences between ethnic groups in terms of sleep patterns, the association between depression and chronic pain as well as differences in obesity thresholds for risk of diabetes. There was also concern that in the long term, some findings attributed to specific ethnic minority groups might pave the way for discriminatory behaviour. For example, the study showing that that chronic pain and depression are less and more commonly reported in Caucasian participants compared to Asian and Black participants respectively, could result in discrimination against Caucasian people that apply for jobs that are associated with long working hours and psychological stress such as nursing. Nevertheless, the Ethnicity Sub-Group felt it was more important that UK Biobank was seen as being inclusive and open to all people and that marginalising ethnic minorities would only accentuate current healthcare inequalities.
Beyond the UK
Inclusion of ethnic minorities in this type of research is clearly a global issue. Biobanks exist all over the world and the biggest are located in Europe, North America, Australia and Asia. In the US alone, an estimated 300 million samples were housed in US biobanks at the beginning of the century and that number has been steadily increasing by around 20 million samples every year. Interestingly, President Bill Clinton passed a law in 1993 that required that the National Institutes of Health (NIH) to ensure the inclusion of women and minority groups in the research it funds. Similarly, the Food and Drug Administration (FDA) were required to ensure the same was true for clinical trials. At a global level, the International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use (ICH) requires medicines to be tested in Asian, Black and Caucasian groups before they are registered in their member countries. These measures will go a considerable way towards ensuring that inclusion is taken seriously before participants are recruited to donate to new biobanks.
It is unfortunate that biobanks rarely operate beyond a national level. Initiatives such as the International Society for Biological and Environmental Repositories (ISBER) provide a platform for the dissemination of policies, procedures and research findings, but these initiatives are rare. As the number of international biobanks increases – particularly in developing countries — it will be interesting to see what long-term impact this has on treating people from minority ethnic groups with illness in the UK. Importantly, this is not just an issue that affects ethnic minorities. In countries that were once known for their low breast cancer rates such as Japan, Singapore and Korea, cases have doubled or tripled in the past 40 years. This has been attributed to behaviour commonly associated with Western lifestyles such as having richer diets and drinking alcohol, having smaller families and delaying having children. These findings could be instrumental in reducing the risk of breast cancer for everyone. At this stage, it is too early to say whether or not UK Biobank will yield findings that translate into improved treatments for disease or changes in national health guidelines specifically for ethnic minorities, but its hard to imagine that it won’t and even if it doesn’t, its hard to imagine that ethnic minorities wouldn’t have wanted to be included in the first place. While a legal mandate may not be necessary, inclusion of ethnic minorities in large-scale biomedical research initiatives such as UK Biobank benefits society as a whole.
 UK Biobank http://www.ukbiobank.ac.uk
 Largest human blood freezer opens (BBC News, 22nd July 2009) http://news.bbc.co.uk/1/hi/health/8161691.stm
 Pfizer pays out to Nigerian families of meningitis drug trial victims (Guardian, 12th August 2011) http://www.theguardian.com/world/2011/aug/11/pfizer-nigeria-meningitis-drug-compensation
 Examples of unethical trials http://www.somo.nl/publications-en/Publication_2534
 Tutton, R. (2009). Biobanks and the Inclusion of Racial/Ethnic Minorities. Race/ethnicity: Multidisciplinary Global Contexts, 3(1), 75—95. Retrieved from http://www.jstor.org/stable/25595025
 International Society for Biological and Environmental Repositories (ISBER) http://www.isber.org
 Global rise in breast cancer due to ‘Western lifestyles’ (The Independent, 24th January 2008) http://www.independent.co.uk/life-style/health-and-families/health-news/global-rise-in-breast-cancer-due-to-western-lifestyles-773162.html