Genetic research in local realities of scarcity and hope

How do people engage in genetic research in Pakistan – and why? Since 2015, I have been studying the development of genetic research in Pakistan with this question at the core. I have followed genetic researchers as they approach and collect blood samples and other health related and personal information from families in different localities in Pakistan. Families, where multiple members have genetic conditions. Families who are struggling to even get by.

The collections are done in the context of international research collaborations and funded by laboratories in high-income countries. There is much at stake when research agendas, scientists working on the ground, and families dealing with genetic conditions meet – each with their own hopes and concerns. Early on in my research, I realized that a set of specific traits made Pakistani communities ‘relevant’ settings for studying genetics in a global context. When I attended conferences, did interviews, and read academic papers on genetics in Pakistan, the extensive access to families with genetic disorders was described as a ‘goldmine’ for research.

Due to cultural forms of kinship associated with consanguinity – over 60% of marriages in Pakistan are between first or second cousins – high levels of biological specificities in the form of genetic conditions are inherited across generations. However, referring to presumed high rates of genetic conditions in a country as a ‘goldmine’ can be subjugating language, particularly given the international context and colonial legacy of data extraction from vulnerable populations in the Global South. In most cases, ongoing genetic research does not have any direct benefit for people in Pakistan. Rather the results contribute to research agendas defined by research laboratories in the Global North, aiming to understand human biological differences and further the development of personalized medicine and more effective treatment in high income countries.

Researchers in Pakistan are working under a global structure of inequality in health and wealth, and unequal power relations between research stakeholders. Interestingly, I found that the ‘goldmine’ framing was also used by Pakistanis, almost like a strategy to attract researchers and international collaborators. I realized that global collaborations bring resources to Pakistan in other ways: Researchers get access to resourceful laboratories, advanced technologies and research opportunities that are not present or accessible in Pakistan – and they use this access in different forms of action to improve public health in their own local setting.

One example of this is the establishment of a prenatal screening service for thalassemia in the area where my research was conducted. The service consists of medical tests performed during pregnancy to detect thalassemia, and is not an element of the research. Rather, it is based on an urgent need in society. Thalassemia, which is rare in Europe, is common in Pakistan. A particular classification of thalassemia, beta-thalassemia major, is described as the most common genetic disorder in Pakistan with an estimated nine million carriers, while 40,000 children are registered as transfusion dependent and 5,000–9,000 children are born annually with the condition.

The research laboratory teamed up with a hospital department that had the clinical expertise to establish the screening service. They have successfully put in place a relevant medical service defined and handled purely by local researchers and clinicians against a backdrop of no available treatment options, restrictive abortion laws, and numerous logistical challenges. In this way, researchers are harnessing nation-building efforts.

I believe that there is insufficient focus in academic debates on such efforts to create local relevance from international genetic research collaborations. Medical genetics in low and middle income countries has to deal with different issues and challenges than in high-income countries. We need to talk about relevance if we wish to mobilize genetic research as a means for improving public health in countries grappling with large health disparities.

We also need to look closer at what happens in research encounters where families, dealing with severe genetic conditions, share their samples and health related data with researchers. One thing that is often highlighted in academic and societal debates in this context is the question of informed consent. Informed consent is an ethical procedure in research that has been discussed extensively, commonly with a set of default assumptions about information and how it should be provided. I wanted to know how regulatory ideals about information transfer made sense from the empirical vantage point of research participants in Pakistan. Not surprisingly, I found that information practices, needs and wishes relate to much more than consent practice.

The ideals of being able to control and audit information propagated by ethics policies are at odds with the local reality in Pakistan, in common with other research settings in the world. Across contexts, studies have shown that people do not seem to remember, use or recall specific information given in conjunction with the consent process: their choice of participation does not build on the information provided. However, I observed specificities related to the cultural and logistical context of data collection in Pakistan: Researchers would often travel far to get to families with specific genetic conditions, and because of this, families would rarely reject sharing their samples or other health information. Families enrolled in the genetic research often could not read and therefore they rarely received written standardized information introducing the genetic research and its purpose. Instead, various forms of alternative information traveled by word of mouth: From the researchers wanting to recruit research participants, information spread to local communities who heard about it through their friends, families, doctors, teachers, etc.

Many people stated that it was only the head of the family who was able to process the complex information about the research, the only one with “samajh”. When I would later talk to the head of family, often a male figure, he would frequently express many doubts about what the research was for. Few people articulated an understanding that they had participated in research. Many were hopeful that the researchers would help them with their condition through reports or treatment. They requested information on how to obtain treatment, diagnosis, or other forms of clarification about disease and family planning. They undeniably needed a basic health service infrastructure that could help answer their questions. Instead, they got researchers who did their best – at times failing – to counsel them and provide information about the lack of available treatment options. Despite this, families persistently invested hope in the research encounters.

While these insights might answer some of the questions about ‘how people are engaging in genetic research in Pakistan’, we need to also focus on a different type of question: How might it, or should it, be different? In my study, the grounding of medical genetics in Pakistan emerged out of the maneuvering efforts of researchers facing unmet medical and social needs and challenges in their communities. We need to consider whether this is a legitimate avenue for strengthening the healthcare sector in Pakistan and providing opportunities to increase knowledge, wealth and create access to care – or whether genetic research as it develops in Pakistan is reproducing and feeding off global and local inequalities. There are many questions. While we will probably never have a clear answer to most of them, it is of utmost importance to keep raising them.