“It didn’t mean anything” – moving within a landscape of knowledge to interpret genetics and genetic test results within familial cancer concerns

Abstract

Genetics is increasingly defining how we understand health and disease, affecting for some, their understanding of inherited disease, and the meaning of medical genetic information. When interpretations of hereditary conditions are determined, partly, by one’s familial experience of heritable characteristics and partly by various other lived experiences, the meaning of genetics becomes highly personal. Through descriptions of stocks of knowledge, this paper describes findings from a qualitative study with a cohort of Black and Asian women with family and personal histories of cancer, about their interpretations of their genetic tests. We describe their interpretations as shaped by different experiences of biomedical practice as well as familial experiences of cancer and genetic testing; and we introduce a metaphor of “moving within a landscape,” to show how those interpretations were created and influenced by various sources of knowledge and life experiences.

Keywords:

• familial
• Black and South Asian
• ethnicity
• knowledge
• genetics

Introduction

Genetics-based medicine is being increasingly adopted into health care systems, with the aim of personalizing medical care for patients and their families. For most clinical scenarios, investigations of disease usually center on the individual, collecting information only from/about specified biological kin if that information helps to build a clearer clinical picture. Such investigations, however, pay little attention to the relational or social connections that influence the meaning and interpretation of information given to or provided by a patient (Howard and Iwarsson 2018; Paton 2018; Wöhlke et al. 2019) especially around genetic disease and genetic technologies within clinical genetics services.

Clinical settings act as arenas for presenting, collaborating or negotiating the meaning of genetics information, where knowledge is shared or contested (Baedke 2017; Meloni 2019). One result is that clinical discussions might disregard whether genetics is a useful informational source for the patient from the latter’s perspective, especially if ignoring the circumstances influencing the very interpretation of that genetic information (Howard and Iwarsson 2018; Scully et al. 2007; Whitmarsh et al. 2007).

Certain members of society do not fully embrace a genetic explanation for certain diseases and understanding how their genetics interpretations and evaluations of knowledge are constructed might explain why. In North European/Western countries, minority populations have comparatively lower interaction with genetics or genetics services, particularly in cancer genetics (Graves and Tercyak 2015; Suther and Kiros 2009), the area framing the discussions in this paper. Given the unequal disease burden that minority populations face (high severity and earlier onset coupled with low research participation), the turn to genetic medicine means that minority patients potentially miss out on any advancements in clinical genetic medicine.

When it comes to Black and Minority Ethnic (BME) participants, some studies have suggested that BME groups’ interaction with genetics services is influenced by their lack of scientific knowledge of genetics, medical mistrust (Sheppard et al. 2013), levels of education and awareness (Hann et al. 2017), and fear and stigma (Allford et al. 2014, 2013; Shaw and Hurst 2008). Increasing scientific knowledge of genetics is offered as a solution to increase interaction with clinical genetics (Sheppard et al. 2013). We have previously discussed some of these issues (Machirori et al. 2019), however how minority communities view genetic technologies could be better explained (e.g. screening, testing and results) to demystify and legitimize their concerns.

By providing clinical genetics services that do not account for potential differences in how people may understand, view or assimilate medical information, services are driven by a deficit model where lack of/minimal uptake of medical information is considered a lack of understanding or knowledge (Sturgis and Allum 2004). This misses out the other reasons people may or may not be interested in participating in genetics, given that lay meanings of genetics (and thus interpretations of results e.g.) are diverse across multiple dimensions including family and generational experiences of disease (Richards 1993; Condit et al. 2004; Condit and Bates 2005). Yet, for ethnically diverse patients, it is not always clear how they end up constructing meaning out of the knowledge of genetics that they have.

To date, perspectives of genetics that have been extensively described (Polzer, Mercer, and Goel 2002; Hallowell et al. 2004; Hallowell et al. 2005, 2006; Stroup and Smith 2007; Arribas-Ayllon, Sarangi, and Clarke 2008) have had less focus on UK-based South Asian or Black women. As research with different ethnic groups highlights (Werner-Lin et al. 2012), there is a need to describe the diversity of perspectives minority groups hold to make genetics services more inclusive (Allford et al. 2014; Hensley Alford et al. 2011; Shaw and Hurst 2008).

Knowing that how ethnically diverse communities interpret historical and current events changes what they report in clinical discussions (Orom et al. 2008; Singh et al. 2013) presents a need to further explore how those interpretive practices come about – something long highlighted by Parsons and Atkinson (1992), Richards (1993), Richards and Ponder (1996) and Richards (1996). Thus, through the findings, we will describe how scientific and medical information, practices and cancer care guidelines – which create specific forms of knowledge, disease susceptibility and categories – are viewed from the perspectives of BME women. To address these issues, we will examine how our participants’ sources of knowledge were made meaningful through their lived experiences of health and as members of minority communities.

Using the framing of cancer genetics, specifically BRCA1/2 mutations and familial breast cancers, we sought to explore how genetic technologies were interpreted by Black and South Asian women. Our paper contributes to ongoing discussions of public understanding of genetics but presents a view from ethnic minority participants, a current gap within this area of study.

We will begin by describing our theoretical framework on which our arguments are based, before a fuller discussion of the study. After presenting and discussing our findings, we will conclude our article by presenting a novel explanation of BME genetic interpretations, which we describe as “moving within a landscape of knowledge.” The landscape of knowledge is a discussion of the process of knowledge construction and factors and experiences that solidify participants’ claims to knowledge.

Although the aim of this paper is to present how knowledge is created and situated, there are two concepts that can be useful for discussion. The main of these – “stocks of knowledge” is especially useful for framing the sources of knowledge (information and experiences) that led to our participants’ thinking about genetics. Secondly and to a lesser extent, that of Foucauldian “biopolitics” as explored by theorists such as Novas and Rose (2000) and Lemke (2011), where we consider the ways individuals arrange their beliefs and decisions given the intermingling social, political and biomedical management mechanisms that impact their lives. In this paper, biopolitical framings are useful for showing that when the disparities in health outcomes (Allford et al. 2014; Steel et al. 1999) are considered from the view of minority patients, there is more to just how much people know – the roles of historical memories of social and medical practices become very important factors. For this paper, we will draw on biopolitics but use stocks of knowledge as the main discussion point.

Theoretical framework and legitimizing knowledge

The meaning of genetics is intricately tied to one’s socially constructed knowledge (Burr 2015). How scientific knowledge is interpreted within these socially constructed frames differs across groups of people, particularly for those from minoritized backgrounds (Benjamin 2009, 2016). While (medical) heritability and genetics focus on biomedical relationships (Dar-Nimrod and Heine 2011; Plomin et al. 1994), lay theories of inheritance usually present inheritance as a relational understanding of familial ties that are not strictly biological (O’Connor 2017) leading to socially varied interpretations of what genetics or heredity are (Scott et al. 2005; Skirton and Eiser 2003; Whitmarsh et al. 2007). Familial relationships and experiences of disease therefore not only end up constructing new interpretations of what heredity is, but how one might utilize that information (Finkler et al. 2003; Finkler 2005; Hallowell 1999; McLaughlin 2015).

In our paper, we use “genetics” and “heredity” loosely and interchangeably to reflect how our participants spoke of these concepts and appeared to construct their knowledge, as has been highlighted elsewhere (Featherstone et al. 2006; Nordqvist 2017; Richards 1996; Wöhlke et al. 2019). However, we do acknowledge that the terms are not necessarily medically equal (Petrucelli et al. 2010) but form the basis of many discussions and negotiations of knowledge between healthcare professionals and patients (McAllister 2003; Richards 1996; Werner-Lin et al. 2012). Previous research has highlighted that for some patients, such negotiations of knowledge reveal an uncertainty around genetics knowledge which is assessed against one’s lived experience (Atkinson et al. 2013; Carrieri et al. 2016; Hall et al. 2009; Parrott et al. 2004) and that these factors impact the eventual evaluation of medical technologies.

Given this prior extensive research on how (what is at times seen as) uncertainty and lay knowledge influence decision-making, our paper focuses instead on the step before, where ethnically diverse participants construct, evaluate and potentially reject aspects of medical genetic information. The paper will show that one of their main concerns revolved around issues of contextual knowledge based on historical mistrust in biomedical practice, and assessments of theirs and others’ medical histories. As such, our description – of situated, contextual or social meaning, experiences or knowledge – refers to the constructions of knowledge that emerge when people form their opinions based on multiple and different sources of information and experiences in life. This does not mean medical or scientific knowledge is siloed but instead forms of knowledge that are incorporated into already existing perspectives. Other examples of those discrete pieces of information include politics and family ties across countries. The level of importance attached to those pieces of information invariably differs per person.

We will show how our participants brought together discrete pieces of information and wove them into a form of knowledge with which to justify their interpretations of genetics. To describe how our participants’ everyday lived experiences influenced the meanings of genetics, we will draw on concepts of stocks of knowledge, to critique any general assumptions that take genetics knowledge as universal. Stocks of knowledge (Kerr et al. 1998b) help us to challenge suggestions that there is a deficit model operating in BME women’s explanations for the health events in their lives. We suggest instead that the women take a more contextual evaluation of genetics information in ways that highlight their ever-changing experiences of the health and care system. The following section describes this in more detail.

By exploring people’s stocks of knowledge, we can explore how they draw on personal experiences to make sense of testing, screening and related genetic information (Carrieri et al. 2016; Finkler 2003, 2005; Navarro de Souza et al. 2014; Nordqvist 2017) as well as explanations for genetic susceptibilty and disease (Mellon et al. 2013; Penn et al. 2010). These multiple factors are embodied understandings of health, biomedical practice and knowledge of one’s own body (Bauchspies and Bellacasa 2009; Mol 2002), which in turn have a tangible influence on how one chooses to interact with health care services (Wöhlke et al. 2019).

As Nelkin and Lindee (2008), Lipworth et al. (2010) and Carrieri et al. (2016) showed meanings and constructions of “genes” affect people’s conceptions and experiences of genetics and genetic technologies. Ignoring those personal experiences and knowledge only privileges a singular view of knowledge (Gergen 2010; Gibbon et al. 2010; Kuhn 1970) which in turn upholds a deficit model of knowledge and eliminates the possibility of meaningful discussions of genetic technologies between clinicians and patients (Helman 2007).

The concept of stocks of knowledge enables us to explore and describe people’s perspectives in view of multiple competing factors. This approach helps us elevate the experiences and situated knowledge of BME women so their concerns may be better understood. As medical information is contested and contestable (Benjamin 2009; Gravlee 2009; Hauskeller et al. 2013), medical practitioners need a more holistic understanding of the environment which impacts someone’s reasoning, influences the perspective they hold and directs them towards or away from clinical genetics services. Reiterating Condit (2010) and Etchegary's (2014) arguments, what people know, understand and expect of genetics and how it guides their behaviors, is diverse, involves multiple sources of information and is not easy to predict.

Biopolitics, limited knowledge and BME women

Analyses and interpretations of genetic test results are affected by the lack of diversity within genetics (Popejoy and Fullerton 2016; Sirugo et al. 2019). This affects the clinical interpretation and advice given to patients (Christinat and Pagani 2013). Within the Black community for instance, the prevalence of inconclusive, negative BRCA genetic test results or results of unknown significance is of concern (Daly and Olopade 2015; Nanda et al. 2013; Olopade 2004), since the lack of information diminishes the clinical utility of tests and a possible reduction of interventions offered. This leads to a widening of already existing health disparities (Hall and Olopade 2006) where minority populations who are already under-represented in groups accessing genetics services, do not benefit from those technologies (Allford et al. 2014; Daly and Olopade 2015; Ellis et al. 2018).

These practices and subsequent experiences create a form of biopolitics (Hauskeller et al. 2013; Novas and Rose 2000; Rabinow and Rose 2006) where the extent of knowledge that is used to intervene on one’s body, and the ways that a person responds by accepting or contesting interventions, is influenced by potentially limited genetic information and the person (patient)’s interpretation of all those factors involved. This is noted for minority women, by how they evaluate whether genetic tests, results and cancer genetics services are useful explanations for their family and/or personal disease histories. For instance, the complexity of systems that are used to predict likelihood of disease (Howard and Iwarsson 2018; Wöhlke et al. 2019) and health care pathways offered to patients means patients may try to use their prior experiences of health and disease to challenge any medical information that does not offer care pathways they believe they should be offered. The lay discourses that emerge from this understanding of complex knowledge systems show us how patients evaluate their disease experiences and family histories of disease, with institutional practices of genetics in their lives (Zinn 2009). As Hallowell (1999) showed, personal experience is a powerful indicator of one’s understanding of uncertainty and risk, and to this we add, interpretation and meaning of genetic test results.

Abelson (1979) and Busby et al. (1997) argued that the knowledge people hold likely to be framed by the different experiences they have, and that new forms of knowledge people use are just ways of making science “more meaningful” (Busby et al. 1997, 83). Thus, genetic tests results may be rendered meaningless by the patient if the results do not fit with their own explanatory models for that disease (Macdonald et al. 2013; Tirodkar et al. 2011; Whitmarsh et al. 2007; Wöhlke et al. 2019). The limitations, implications and situated knowledge of genetic information are not bound only to clinical encounters. Rather, as shown by Benjamin’s and Nelson’s critiques of genetic technologies, how technologies are used is unpredictable and can extend to their use as political tools for determining belonging or access to services (Benjamin 2015b; Nelson 2008, 2018). How ethnically diverse communities experience the entirety of these genetic discourses therefore influences the role of medical information in their stocks of knowledge, including the politics of disease ( Rose 2001).

While the ongoing debates about ethnicity classifications in genetics warn us not to take social constructs such as ethnic identity as objective fact, genetic practices remain an ideal platform from which to explore the experiences of North Europe/Western countries’ ethnic minority populations (Felt and Müller 2011; Garba 2018; Guglielmi 2019; Hendricks-Sturrup et al. 2020). If clinical practices do not respond to the concerns of ethnically diverse patients, then those patients will lose out on promises from genetic technologies.

Finally, how patients will interpret genetic test results is vital to understanding how genetics technologies might be better organized to support minority groups. To understand why there might be reluctance to fully assimilate genetics knowledge in one’s explanatory framework (Nelkin and Lindee 2008; Whitmarsh et al. 2007), the factors that influence interpretations and meanings of genetic test results need to be better recognized. For ethnically diverse patients, going beyond a focus on uncertainty, to explore the preceding factors to it, shifts from interventions that only aim to increase genetics education, towards proactively addressing patient concerns.

In the next section, we introduce the metaphor of “a landscape of knowledge” as a mental aid that describes and shows how our participants used contextual knowledge Our metaphor of “landscape of knowledge” describes how these women constructed knowledge using experiences and interpretations of histories and memories of biomedical practice in addition to their own personal everyday relational and familial or kinship experiences. The metaphor highlights a space that is multidimensional, including across different knowledge sources, geographical spaces and timelines.

A landscape of knowledge – a brief description of how contextual knowledge is constructed

A landscape of knowledge draws similarities from stocks of knowledge, but the imagination of “movement” enables us to see how those factors are brought together at different times in one’s life. The nuanced and complex ways in which the factors are brought together highlight how each informational factor being considered changes the overall meaning of the knowledge being produced. A landscape is the entirety of factors that are available to someone, and which impact their understanding of a situation, sociocultural, medical and political. These factors include definitions of family, cancer histories, interactions with health care professionals and can include definitions of ethnicity and the histories of medicine in one’s community, however defined.

By seeing a landscape as holding the complete set of factors that impact knowledge, any new information that is fed into that set is evaluated considering what is already known. The landscape is therefore a set of changeable conclusions, based on which experiences one decided to focus on first, or take as basis for viewing the world, including concerns raised across time (historical experiences and future expectations) and geographies. It is especially the intersection between histories of medicine and experiences in a society of being minoritized and their subsequent influence on evaluations of genetic technologies that have been least attended to in previous literature discussions. These issues will be explored further, with examples, in the findings.

Aim

Our paper presents a secondary thematic analysis of results from a grounded theory Ph.D. study conducted with women from Black and South Asian backgrounds in the UK. The aim of the Ph.D. was to explore the diverse ways in which scientific knowledge of genetics, in particular hereditary cancer, was constructed, interpreted and understood by women from minority backgrounds. Space constraints a bigger discussion expressly about genetics and race/ethnicity issues, uncertainty, risk and behaviors but such a discussion is needed to show how these issues converge and influence patients’ experiences and evaluations of medical research and practice. This article focuses on how different sources of information and contextual experiences of being a member of a minority ethnic group, influence how one evaluates and interprets genetic technologies such as genetic tests for cancer. Using a metaphor of a landscape of knowledge, we describe these processes of evaluation, from the view of ethnically diverse women with familial cancer concerns and who had undergone genetic testing for pathogenic variants in the BRCA1/2 gene.

Methods

In the UK, where our study took place, according to the NICE Care Guideline 164 at the time of the study (National Institute for Health and Care Excellence 2013), anyone presenting with a family history of cancer (breast, ovarian, prostate and pancreatic) would be assessed for potential hereditary and genetic cancers. Those meeting a minimum probability threshold would be referred to a specialist clinic and offered genetic testing. Pathways into these testing centers were through both primary and secondary care. People could also be offered genetic tests and/or probability screening depending on meeting other criteria, such as age at diagnosis or type of cancer tumors. This created the standard approach to care, yet this “standard information” did not always align with the experiences of disease or personal expectations of care, leading those who undertook those tests to find ways to situate the medical information they were given within their already existing explanations.

Participants and data collection

In 2016, 15 women residing in the UK and self-describing as being from Black, African, Black African, Black Caribbean or South Asian backgrounds took part in qualitative semi-structured research interviews over a period of 10 months (REC 15/LO/16710). All the women provided written consent to take part in the study, including to be audio-recorded. The women were purposively and theoretically sampled in line with constructivist grounded theory methodology (Bryant and Charmaz 2010; Charmaz 2006), from a list of attendees to a Genetics Department serving London and the South East of England. To minimize potential distress from participation, we invited those with at least one year between invitation and the invitee’s first interaction with cancer genetics services.

In addition to hospital-based services, the genetics department provided local and outreach community services to a range of people, including risk-assessing those with concerns about any family histories of cancer. Our study participants had either self-referred to the community clinics serving the Department or had been referred by oncologists or GPs following either breast or ovarian cancer diagnoses and/or family histories of cancer. Prior to these risk assessments, none of the women reported having undergone any genetic testing and the clinical encounters with the genetics department had been their first encounters with genetic testing. Not all women who were seen in the Department underwent genetic testing, however, as offers and decisions to test were driven by the Department protocol.

Here, we report an analysis of discussions with 10 women who had both a personal diagnosis and a family history of cancer and who had been offered and undergone genetic testing for mutations in the BRCA1/2 gene. Of the 10, 6 had returned mutation-positive (pathogenic) results, while 4 had negative/inconclusive results. The women, whose ages ranged from 30s to 60s, were either born in the UK or migrated at different ages from various South Asian, African or Caribbean countries. We have reported the participants’ characteristics in a previous paper (Machirori et al. 2019).

Data analysis was done through thematic coding of verbatim transcripts (Braun and Clarke 2006), where codes were grouped according to similarity in what was being discussed (themes) and themes grouped into an overarching analytic category. We used Nvivo software to manage (rather than conduct) coding and analysis. Transcripts were manually analysed in several stages, the first of which involved full reading of the transcripts for a general understanding of what the women were describing. The lead author (MM) read all the transcripts in detail, summarizing sections of text, either by line or paragraph, into a brief descriptor or code. After generating hundreds of these initial codes, the lead author then grouped similar codes into bigger groups (themes) with indicative examples of group headings such as “living with risk or uncertainty,” “experiencing disease in family or self,” “explaining inheritance” to name a few. All authors reviewed the codes and their themes, as part of sense-checking of the findings to ensure we were not imposing our own views without evidence (Snape and Spencer 2003; Yilmaz 2013). Themes were further grouped into whether they related to specific knowledge (e.g. personal, familial or that received from medical professionals) or specific historical practices or social contexts.

Finally, through team discussion and interpretive analysis (Elliott and Timulak 2005; Rowlands 2005), the themes were interrogated for how they related to each other. This involved describing the story the participants were portraying, and the processes or experiences that led to that story, an inductive process of building the final analytic category (Charmaz 2008) against which we built the landscape of knowledge. We named this category ‘making sense of genetics tests and results – knowledge in a social context' to describe how our participants evaluated and assessed various pieces of information in genetics and in the next section, we describe the themes and how they formed part of the story (their relation to the final category) and thus the landscape of knowledge. We place particular emphasis on the processes of linking together those different pieces of information and use sub-themes to describe how these processes influenced participants’ interpretations of medical knowledge.

As noted earlier, the production and meaning of knowledge are influenced by people’s varied experiences in the world, which cannot be forced through a single lens (Kerr et al. 1998a; Mol and Law 2002; Ophir and Shapin 1991). We have highlighted and will continue to do so throughout the findings and discussion that participants created their sources of knowledge from a wide range of information and practices. This included both medical and non-medical information and understanding of genetic screening, testing, cancer and various other genetic or sporadic disease, similar to what previous literature has found (Finkler 2005; Mellon et al. 2013; Navarro de Souza et al. 2014; Nordqvist 2017). As Chaudhuri (2015) remarked, views held by those from diverse communities are not exclusive of science and discussions of their beliefs can be better incorporated into medical discussions if those views are not seen as issues that are static, or that should be fixed or corrected (Mitchell 2015; Seymour-Smith et al. 2016).

Findings

We now present our category – making sense of genetic tests and results – as a description of the ways in which our participants created contextual knowledge with which they evaluated genetic information. This will draw on interpretations primarily of stocks of knowledge that we raised in the opening sections of our paper and will use sub-themes to describe in more detail what those stocks of knowledge these participants held were. We will also describe how participants constructed new opinions in the face of incoming information. We refer to this construction of opinions as moving in the landscape of knowledge, where each new piece of information is compared to numerous other sources of information and experiences, and where each comparison results in contextual evaluations.

Firstly, we will show how our participants used knowledge and information from different geographical and temporal spaces, particularly of social and medical historical practices and controversies to situate their baseline framework of the landscape of knowledge. The information they cited was a social commentary on the ways minoritized or non-White communities were historically subjected to unjust medical practices. Such information usually led to these participants being cautious about aspects of medicine that did not always appear fair or clear to them. Through this baseline framing, the participants would assess tests and technologies before reflecting on their own personal experiences of health and disease – rather than broad narratives. All these assessments highlighted the construction of situational knowledge and movement across their knowledge landscape. Finally, the participants situated the medical information they had received against various points in their knowledge landscape and created a final (though never fixed) perspective of the utility of genetic tests in their lives. Through verbatim quotes, will now describe these themes in more detail.

Making sense of genetic tests and results – knowledge within a social context

Drawing from social and medical history and controversies

Our participants did not start by holding a particular knowledge of genetics. Their narratives about genetics started and evolved around shared community knowledge of historical medical research and practice in different ethnic groups irrespective of the disease under discussion. So influential was this narrative that it shaped some of the participant’s views of medicine in general, and later provided a means to question scientific and medical knowledge; and even later influence the evaluations of genetic technologies.

Imagine Ebola has been there for ages, for more than 30 years. Nothing has been done about it. But because 1 or 2 persons from Europe have been touched by it, they managed to find something to help them to kill the virus. You know, when we see that, what can we think about now? P4, 30s, positive

This interpretation of historical events meant some participants wondered whether medical knowledge was geared towards their benefit. Yet, there was no linearity between holding such views and one’s eventual participation in medical services. For instance, in this participant’s interpretation of medical practice, what appeared as inconsistencies in health outcomes, including scientific and medical responses to Ebola crises in and across Central and West African communities, only led to skepticism about the role of science in treating illness and disease in non-White communities. Her view, which led her to question the role of genetics in disease pathways, did not stop her from noting there could be benefits of participation in genetics.

You still need to be aware of what you're carrying, if it's possible to know, it's still good to know. But I don't think that the gene is the most what is the real problem with cancer. I don't think so. P4, 30s, positive

A similar dissatisfaction was highlighted by another participant, as she described a more personalized rather than communities-focused experience:

I had my son in 1999 in May, and then in 2000, I start having blood pressure. […] That medication give me stomach pain, everytime when I got it, I got palpitation. I say I'm going to die. Everytime when I go to the GP, explain to them that this medication is killing me. I'm taking it, my blood pressure is always high. Why since 2000 and now you can't review and change it? […] For 14 years I am taking the same medication but there is no change, all the time when I go there it is high. […] When I am getting that medication, I start to feel palpitation or have to rest, or I have to … why is this? P8, 50s, positive

These experiences opened the room to challenge medical knowledge, where the meaning of a genetic result came secondary to the historical and personal experiences of scientific and medical practices in general. These secondary framings led some of the participants to be cautious about the extent of knowledge held in medical information and by its practitioners:

[…] makes you think sometimes, where do I go, do I go to, which person do you go to … It's also how much they know isn't it? I think so, how much the person knows. And I think why didn't she pick it up? She is supposed to be a cancer specialist, but she is probably a cancer specialist for that particular specialist of that hospital but doesn't have the amount of experience that the centre dealing with these cancers does. P10, 40s, positive

I was a little bit sceptical, coz I was like yes, doctors they think they know everything. They don't always know everything. So sometimes they find things and a few years later they tell us oh that was wrong. So, I don't know. I don't know. P4, 30s, positive

Thus, evaluations of the role of medical knowledge were not only limited to information but also to how practitioners imparted that information, and the broader shared narratives that communities held about historical medical practices. None of these factors were taken in a silo but would be “added” into baseline framings participants already held, thus influencing how they assessed tests, results and other genetic technologies.

Assessing tests, results and technology

Ongoing assessments of the meaning of genetics depended on what these women thought could be inherited or not. For instance, their understanding of whether cancer could be inherited or not, brought together any prior-held explanations for the causes of cancer (including their own cancer diagnosis). Depending on the answer to the latter, some questions emerged around why they may have inherited a pathogenic mutation, if they had, or why they had developed cancer, if no mutation had been identified. As one participant showed, getting a test result was only one aspect of the diagnostic encounter, the test result had to be situated within the family, across generations even, for it to make sense:

That is the question I am asking myself: where it comes from. And I'm never getting the answer … when I did the genetic thing, they said to me that it's in the family, so it's something in your family we got it from our mum maybe. P8, 50s, positive

So, she got to know that the 2 aunties had breast cancer and one ovarian. And then 2 uncles had prostate as well. So, I thought there could be something genetic here … the 2 women are from my dad’s dad. So, it’s not my dad’s mum. So, my dad’s dad side […] So I thought something going on in the paternal side of my dad. So that’s how I related it. P14, 50s, negative

In fact, having a test result meant these women had to find a way to fit the developing perspective from medical information to what they may have already constructed around heritability of cancer. If the assessment of medical information or the genetic test result did not align with their prior explanations, the participants found it difficult to accept the information from the tests, as it meant they would have to undergo complete upheaval of all their relational knowledge (that they had lived their lives through) to create a new relational frame. As these (especially cancer) genetic technologies did not exist in these women’s (or their parents’) countries of origin, new genetic information challenged them to imagine what “past” or “future” those technologies may have created.

Mum got it from somewhere I don't know, before my mum and my sister, I never hear talk about cancer in my family …  P8, 50s, positive

At the outset, part of the assessment of medical technologies related to whether one thought the sources of scientific information were representative of a diverse society or not. The recently highlighted lack of diversity within genetics was part of the social commentary made by the participants, evidenced through a lived experience of trying to make sense of genetic tests:

It didn't mean anything apart from the fact that I feel that, ok, we are in the Western world, and they have got more information about white people than they have of us Black people. They are doing all they can, but maybe they haven't got there yet. P14, 50s, negative

In employing this reasoning, participant P14 believed a genetic test would have proved that her cancers were due to a mutation in the BRCA gene, yet not receiving a confirmatory test result only cemented the idea that there was limited information about minority groups with which to make those “correct” diagnoses. As such, in her reasoning, widening the genetic database would have benefitted her as the tests would have been run and compared on people who looked like her.

These women held very strong feelings and hopes for the future that widening a genetic base would favor people from non-White backgrounds, and was part of the reasons some of them stated they participated in research calls whenever possible:

Maybe now, 10/20 years from now, 30 years from now we may be able to do full genetic counselling for someone like me from an African background. Hopefully we can then request those records and there will be there. That's the future hopefully. P13, 30s, negative

It was an often-referenced hope among participants who had negative mutation results, that the promises of genetic technologies should benefit everyone. As another participant put it, “it shouldn't take 2 or 3 members of the family to die from that illness before someone says well let's look at it” (P6, 60s, negative).

The lack of meaningful medical information, at least according to these women, meant that scientific knowledge was an incomplete source of information. It left the women with little else but to imagine tests as potentially useful in the future, where they hoped that a negative result would one day be re-interpreted into something more meaningful for them, where meaningful was more aligned with their disease experiences:

Their words were: “with the technology today, they can't see that it's genetic.” That's what their words were. But who knows in the future? Who knows in the future? That's what I'm thinking. They said it's not genetic now, but they might be able to in 10 years’ time, just pinpoint with the technology because it's advancing all the time. P12, 40s, negative

When described via the landscape of knowledge, instead of assessing knowledge of genetics in silo, we see that participants’ interpretation of the meaning of genetics tests and their possibilities, drew from wide-ranging experiences of health provision and assessments, scientific information and the inability to create connections between that information and the family and personal narratives of cancer heritability. The participants’ evaluations were thus based on many different sources of information from historical time-points as well as geographical locations where the significance constantly evolved to accommodate hopes of what the future may look like. In sum, the meaning of genetics and testing was debated and not universally accepted as it was influenced in various ways by the baseline information one held about medical information, medical practices and whether any incoming information fit or challenged with already-existing perspectives.

Personalizing one’s narrative

Whether, or to what extent, a genetic test result was considered useful or meaningful was evident in the working narrative the participants provided around their own disease histories. For those for whom a medical explanation supported prior explanations for their states of health, there was more ready acceptance of the genetic test as something useful in their lives, especially if it sat fluidly with their views of their family history and their overarching view of the role of medical information. Yet, explanations of the meaning of a genetic test and its results were never fixed but could change over time. As such, through moving in a landscape of potential meanings, participants could hold multiple interpretations of the same test. This is not to say that acceptance or rejection of a genetic result provided a ready acceptance or rejection of a genetic explanation for disease causation. In any interpretation of the result, possible reasons for a cancer diagnosis were also considered, as the following participant explained:

If I'm looking at it [in] medical terms like we're discussing now [then cancer diagnoses are related to a gene mutation], but if I look at it from a faith kind of view then I think God wanted to give it to the other … didn't want to give it to her … I've had so many family members that I do say that yeah, it is genetic. But then you might get somebody who's got the gene and might not get any cancer. So how do you explain that? P9, 50s, positive

The reasoning that one chose was made to fit what they were experiencing at the time of the test. Even with the acknowledgement of a pathogenic result, the actual placement of the result in one’s life remained unpredictable:

I'd already had the diagnosis and then they offered the gene. So that was a no-brainer. I went for the gene coz then I just thought well then, we can definitely confirm it … But then I think, about the time I was diagnosed. I wasn't particularly happy. I definitely wasn't eating well, just eating everything that wasn't moving. P5, 30s, positive

Fitting one’s narrative to their personal situation sometimes resulted in a changeable and sometimes surprising evaluation of the role and meaning of genetics, as summed in the following excerpt by participant P9. At first, P9 suggested the genetic test provided her with an opportunity to take control in an unhappy relationship. By using a positive mutation test result to accept and undergo oophorectomy (surgical intervention to remove ovaries), P9 reported using the intervention not mainly for cancer risk reduction but to prevent future pregnancy. Thus, at that time, the meaning of the genetic test result was influenced by the personal relationship she was in, while in the discussion of the present, an alternative meaning of the test was one of importance to reduce the risk of further disease. The interplay between the medical and the social reasons showed that medical information was never assessed for its medical benefit alone, but that the decisions to participate in these technologies were also driven by the social situations one was in. Whatever meaning was created from genetic technologies, it was always important and thought-through, flexible and multiple, rather than singular or fixed in time:

I mean with the ovaries I suppose they said it's more higher risk, so I mean at that time I didn't really think about in that sense, but now I think about it, I think no, it was good I did have it done (oophorectomy). But at that time, I'm saying that wasn't my intention. But now I look back and I think, that was a good thing I did then. Because I think it's more easier for the cancer to get the ovaries than the … I think that's what somebody said, it's higher risk for the ovaries, isn't it? P9, 50s, positive

Thus, in trying to understand people’s interactions with genetic technologies and clinical services, it is not enough to only evaluate what people know. We need to explore what factors create the contexts and landscapes in which genetics is experienced, navigated and known, to get a better indication of the meaning of genetics across time, experiences and contexts.

Situating medical explanations

Making sense of genetic tests and results was ultimately about situating a genetic test result in one’s knowledge landscape. This involved checking if the result aligned with or disputed any previously constructed explanations of one’s family and personal histories of cancer:

So as the Dr would say, I'm cured of it now. I'm cured of it; I don't have it. Well, ok, the same happened 7 years ago. [laughs]. I don't know, I just think there is no cure for it, it's just gonna happen especially if it’s a genetic, once you've had it, it's always gonna happen, I think. Cells divide, they continue, and one little division that goes wrong is gonna give you a cancer, that's how I look at it. P10, 40s, positive

Whether or not medical knowledge changed one’s outlook on the meaning of that genetic test result was not always predictable. For instance, the lack of predictive capacity of a test, coupled with personal diagnoses of disease against general experiences of biomedicine, meant that participants P10 and P14 were less reassured by their tests results and had no reassurance of a life free from disease.

Because every test you do, there is no 100% proof to it. So, all these other tests, does that mean, something else is lurking somewhere that hasn't really … But you live in hope. P14, 50s, negative

For some, receiving a pathogenic result did not immediately influence health decision-making, especially when additional family experiences were considered. Having a test result was inadequate to allay one’s fears about future disease, particularly where it appeared that medical intervention had not prevented people from getting ill:

 … look at my mum. She did everything that they told her to do. She still died … Why did she die then? Why couldn't they save her? So, if I have my other boob removed, I might just get it removed for nothing. I need that boob. P9, 50s, positive

This suggested that there was a power in science that was perceived by these participants, but which led to disappointment when those perceived benefits did not materialize. Such a view existed for both those with negative and positive mutation results. For those who returned a negative mutation result, there remained questions about what caused their disease, sometimes leaving them in limbo while searching for explanations to fit their experiences:

It just said to me, I did not carry the gene. And perhaps it's a fluke of nature. It can be. We can then start to attach all sorts of … .it could have been stress. And even so, they say for example that if you have children young, you breastfeed … your chances of … that's a lot of crap. Coz I had children young, I breastfed, and I still ended up with breast cancer. P6, 60s, negative

Despite contesting the utility of medical explanations offered to them, these women always left room to also accept those explanations at a different time. As previously reported above, one participant, P5, thought her unhappiness had played a role in disease. Yet, in the same breath, she also embraced a medical explanation for the cause of her disease, saying: “I'd already had the diagnosis and then they offered the gene. So that was a no-brainer. I went for the gene coz then I just thought well then we can definitely confirm it.” In the same way, participant P4 reported encouraging her brother and sisters to get tested, saying “You still need to be aware of what you're carrying, if it's possible to know, it's still good to know.”

We learnt from our participants that it is difficult to predict the role of medical information, or the value placed on that information in the assessment of genetics. It is also incorrect to assume they are not interested in genetics, or they lack the knowledge to make decisions about participation in genetics services. To fully understand ethnically diverse patients’ interpretations of genetics, we believe it is important to continue exploring some of the historical perspectives and socially constructed ways of knowing which influence the interpretations of the meanings of genetic tests and results in cancer studies. In this way, we can move towards a more inclusive provision of clinical genetics services.

Discussion

People from minority communities in Western society are reported to have lower levels of engagement in cancer genetics (Allford et al. 2014; Saulsberry and Terry 2013), yet the ways in which they make sense of these technologies is under-reported. This has led to a Eurocentric and reductionist approach to the concept of stocks of knowledge, where the experiences of BME communities have been less articulated. We created the metaphor of a knowledge landscape to highlight what ethnically diverse participants’ stocks of knowledge included and described how participants evaluated and selected information from medical genetics. By imaging knowledge use as a movement in a landscape, we showed how they created a more personal narrative of the meaning of cancer genetic test results.

We briefly alluded to how thinking about biopolitics could be used to situate these participants’ experiences when looking beyond only sources of knowledge. Such an approach would elevate the historical and personal understanding of biomedicine that continues to be part of people's stories, but which is sometimes misunderstood by professionals as “disinterest” or “hard to reach.” Exploring biopolitics from this view means challenging the hidden social, historical and political nature of medicine in ways that a deficit model does not do. This could be seen in our study especially when a genetic test result and medical explanation contrasted with an already-existing explanatory framework for disease. As shown by our participants, the factors that created their landscape of knowledge that included the medical practices around Ebola, experiences of medical guidelines on their health and their understanding of a lack of diversity in genetics. These highlight not only how biopolitics could be viewed for Black and Asian women, but that their interpretations of genetics are beyond scientific information alone. Indeed, such a concept can be used to link the creation and interpretation of medical guidance as something that cannot be seen apart from specific social, historical and political concerns.

While several scholars (e.g. Benjamin 2011, 2015a; Garba 2018; Nelson 2008, 2009) have explored issues around the role of power and knowledge in genetics, they have done so drawing mainly from an African-American perspective. As such, how biopolitical discourses can be investigated and written about for UK-based Black and South Asian minority populations still need to be explored and described, if genetics and genomics services are to respond to both the medical and societal concerns patients have. Reasons of uncertainty and skepticism have featured in numerous genetics research (Howard and Iwarsson 2018; Jallinoja and Aro 2000; Kenen et al. 2003; Parrott et al. 2004; Wöhlke et al. 2019) as reasons for reduced participation in genetics research, but rather than assuming uncertainty or skepticism as behavioral drivers, we instead took the analysis in a new direction. We described how different sources of information and experiences interacted and created conditions for minority patients that may otherwise be interpreted as uncertainty by the medical field. By doing so, we legitimized the concerns of ethnically diverse and suggest that future interventions to increase genetics participation should engage with these wider social and historical concerns.

Consequently, to suppose that these women were not interested in genetics because of lack of knowledge or uncertainty alone (Shaha et al. 2008; Sheppard et al. 2014) is problematic and misses the nuanced and complex ways in which minority ethnic women understand genetics within their own life experiences. One form of knowledge or controversy does not erase another form of knowledge but is always situated as part of a whole system, a landscape to be navigated. The metaphor of a landscape of knowledge was therefore useful in describing how new information was taken in consideration of previously held frameworks and used to justify one’s beliefs about genetic tests, through multiple evaluations of different sources of information and experience.

Furthermore, by imagining that the participants were “moving within a landscape of knowledge” we showed that ethnic minority patients’ socialized knowledge, the ways genetics and test results were interpreted, and the emerging narratives were sometimes conflicting in themselves. Yet, we could see the diverse reasons for interpreting and understanding genetics and genetic tests in the ways they did and the varied sources of knowledge these women used to develop those interpretations. Although not always understood as a philosophical approach to knowledge, how people of African heritage, for example, make sense of their worlds was described by Chuwa (2014) and Mosley and Ferguson (2011) and shows alternatives to Western philosophical explanations for disease. It also highlights how patients move between different philosophical approaches to knowledge, and can weave stories that incorporate, rather than choose, between different traditions.

Science was therefore not an abstract concept that was evaluated in isolation of general life experiences. The deep understanding of whether science is taken as all-knowing and all-truthful or rejected as such (Wagenaar 2011) remains important for minority communities to tailor health services to their experiences of science and the world.

Indeed, discussions of lay knowledge, lay beliefs and lay experts (Abelson 1979; Busby et al. 1997; Prior 2003) as ways patients and publics understand their medical lives, have not fully articulated the wider socio-political experiences that patients draw upon. Schwartz-Marín and Wade (2015); Werner-Lin et al. (2012); Saleh et al. (2011); Barlow-Stewart et al. (2006), for instance, have all shown that knowledge is fluid and expertly interwoven with one’s cultural knowledge system. As Fullwiley (2014) or Nelson (2008) concluded, medical genetics knowledge forms only part of one’s source of knowledge, and that other life experiences were just as important. Our findings support those claims.

Therefore, BME patients’ interpretations of the meanings of a genetic test result lie in perceptions of concepts such as science and genetics which are overlayed on their own experiences with history and health policy, where injustices and inequalities remain a feature. Given these histories, as Schwartz-Marin (2015) and Schwartz-Marín and Wade (2015) showed, new diagnoses or genetic test results will be made to fit within these frames older narratives of familial cancers that participants hold, rather than taken as automatically superior knowledge to replace one’s existing understanding.

By moving within a landscape of knowledge, our participants compared their prior-held knowledge of inheritance/genetics and cancer with any incoming knowledge, and in that, attempted to bring together any differing perspectives into a coherent account. The landscape was thus a dynamic account of how various factors interacted and influenced what one took as legitimate knowledge (Urry 2005). Challenging the assumption that genetics knowledge is something immediately meaningful and useful changes what is known about BME experiences and interpretations of genetic technologies. Participants, in fact, did not immediately accept or discard medical information, but only after evaluating various sources of information and experiences, did they at that point, reject or accept the medical explanation offered with their genetic test result, decisions which themselves changed with time (Paton 2018; Wöhlke et al. 2019).

Considering that the creation of health policies do not always creates spaces for meaningful dialogue about people’s concerns (Mccann and Ward 2012), it should not be surprising that worries about mistreatments and mistrust in Black and minority communities (Benjamin 2014, 2016; Davis et al. 2012; Garba 2018; Nelson 2009, 2018) continue to frame how people interpret scientific genetics information and practice.

Our study highlights the need to address these issues that lead to differential experiences of the health system and the extent to which non-clinical factors influence minority ethnic women’s interpretation of genetics and test results. This is valuable for those designing interventions to improve the utility of biomedical technologies across different communities. To widen participation in genetics services by minority communities, clinicians and policy makers must move beyond assessing genetic knowledge in patients from those backgrounds, but rather acknowledge that historical narratives and experiences of being Black or South Asian construct the background frames of reference that any future medical information or intervention is evaluated against.

Conclusion

Our study raises several issues. When talking about patients’ understanding of genetics there is a need to inquire about any prior experiences of medical research and clinical concerns that might not be readily visible to those providing medical information or collecting family histories in clinical settings. Interpretations of genetic information are more than just possessing a certain type of medical information. We have shown that our participants carried out multiple evaluative exercises of any new information presented to them where prior scientific and clinical information was only part of their wider framing of situated experiences of cancer and health care in general. For example, by talking about medical research that they thought affected only people on the African continent, or Black people in Western societies, our participants were sometimes reluctant to see the benefit of medical practices and information beyond those injustices.

Despite the insights we have produced, our article has limitations. First, this study was conducted with women only, and so the perspectives of men regarding genetic testing for familial cancers remain unknown. Second, women were sampled from a cohort of women who had already participated in discussions around familial cancers and as such already had an interest in genetic technologies. It would be interesting to see if similar interpretations of genetics were held by those who may have declined genetic testing. In our study, we were not able to recruit anyone who had declined genetic testing. Given the variable time between cancer diagnoses, genetic testing and the research interviews, it is difficult to say how changeable the themes raised were, as the time from diagnosis to interview would have given women considerable time to reflect on their situations. Whether they thought the same at diagnosis or testing is unknown.

To broaden the perspectives towards genetics, a comparative study of women in non-Western countries would be interesting, as it would map whether similar concerns can be found in women of Black and South Asian descent, irrespective of geographical location. While there are similarities in the evaluative processes that BME women and White women go through, we believe the starting points of history and politics are different and cross-country studies would be useful in extending these insights. Knowledge of genetics should therefore not be taken as universal or fixed, but as something that evolves and whose interpretations are reflections of one’s interpretation and personal experience of health and care. As such, genetics services need to explore the intersections between different societal experiences of biomedicine in order to fully tailor services to communities in meaningful ways.

There is, however, a need to move away from US-centric perspectives that have grown over the years towards the ways local and historical concerns frame service provision for UK minority populations. This would build on UK-facing research by Atkin et al. (2009), Harris and Lötter (2012) and Srinivasa et al. (2007) in attempts to describe a more inclusive genetics service. Our participants’ perspectives of what it meant to be a Black or South Asian woman, undergoing genetic testing for cancer, in a medical system that did not always elevate their concerns, provide a very stark reminder that health care provision remains inequitable.

By describing how participants moved within a landscape of knowledge to evaluate the knowledge offered by medical information, we showed that participants did not always locate genetics as a useful form of knowledge. When they collated all the various sources of knowledge and experience of being Black, South Asian or a minority in the UK, together with medical and scientific information, and the personal and familial experiences of cancer, our participants’ perspectives became unique. Their unique (biopolitical) experiences of the world produced a landscape of knowledge that took existing stocks of knowledge and overlayed them with experiences of being a minority patient in the UK. This saw them holding views that needed to incorporate sometimes contrasting and seemingly incompatible interpretations of genetics.

Given the findings we presented, when discussing issues of knowledge from a minority ethnic perspective, such discussions should also extend to discussions about how to encourage genetics professions to make use of these cultural and experiential knowledge and interpretations. Beyond the focus on patients alone, areas to continue to explore should include how homogeneity in the genetics profession impacts how patients might evaluate the utility of genetic tests (Barlow-Stewart et al. 2006; Bonder and Martin 2013; Meiser et al. 2001; Mittman and Downs 2008). This becomes especially important if genetics service provision is to meaningfully respond to diverse views and experiences (Knerr et al. 2011; Mozersky and Joseph 2010; Parrott et al. 2003) since a potentially shared experience of being a minority (although not always guaranteed) might mean patients are more likely to speak candidly about their concerns. While the issue of the need for diversity in genetics is now widely recognized (Allmark 2004; Knerr et al. 2011; Popejoy and Fullerton 2016; Sirugo et al. 2019), there remains an additional need to ensure the diversity of databases is aligned with increasing diversity in those working within genetics (Mittman and Downs 2008).

Yet, we must also be cautious not to essentialize any future links between genetics or ethnically diverse communities without exploring the socio-historical accounts that come with those ethnic categories. Sociological analyses in this area must continue, as they will be invaluable for showing how different experiences guide people’s interpretations of medical information and later, how scientific knowledge can work within those interpretations. In this way, we can effectively find new ways of working and providing care that provide maximum health benefits to all.

Acknowledgements

An early draft of this work was presented at a seminar for the Greater Manchester Centre for Genomics Medicine Centre seminar (Manchester University NHS Foundation Trust) in June 2019 and we are grateful for their comments. We are very grateful to the women in the study for their time and perspectives in the study. We also thank our reviewer for the very useful comments and for being thoroughly engaged with previous versions.

Disclosure statement

The authors disclose no conflict of interest or payment arising from this project.

Additional information

Funding

This work was supported by Higher Education Funding Council for England [Grant Number King's Access to the Professions - PhD scholarship].