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PMC Articles

Patient, parent and provider perspectives on sickle cell disease genetics research in Jamaica

PMCID: PMC12829944

PMID:

Abstract

Advances in genetics and genomics research are revolutionizing the way we understand sickle cell disease (SCD) and approach its treatment and management. Much of this research has been conducted in high-income countries and so much of the available data is skewed towards these populations. Efforts are now being made to facilitate this research in low-and-middle-income countries (LMICs) through capacity building and strengthening. These efforts must also include understanding context specific SCD stakeholder perspectives and attitudes to guide genetics and genomics research in these populations. This qualitative study used semi-structured in-depth interviews to investigate perspectives on SCD genetics research among 10 SCD healthcare providers, 10 individuals living with SCD and 9 parents affiliated with the Sickle Cell Unit (SCU) in Kingston, Jamaica. Most participants showed support for or a willingness to participate in SCD genetics research as they believed it would lead to improved SCD treatment options and greater knowledge about the disease. Some patients and parents, however, seemed to conflate genetics research participation with receiving SCD treatment or health screenings, pointing to therapeutic and diagnostic misconceptions. Skepticism about genetics research also emerged among some participants due to concerns about loss of privacy, mistrust and fears of misuse, the potential time commitment and inconvenience, and fear of the unknown. Overall, Jamaican SCD stakeholders conveyed an openness towards SCD genetics research participation. However, researchers in genetics must be mindful of the power imbalances that exist between researchers and research participants in LMICs. Steps must be taken to ensure that communities in LMICs are not only able to make contributions to genetic studies, but also that they understand the research goals and the implications of their participation. Working alongside local researchers, providers, patients, and other interested parties will be a key element of facilitating trustworthy and impactful research and establishing trust within these communities.

Full Text

Sickle cell disease (SCD) is the most common genetic disorder of the blood. Globally, over 300,000 children are born each year with SCD and models suggest that this number could rise to 400,000 by 2050 [1,2]. Approximately 95% of people with SCD live in low- and middle-income countries (LMICs) including India and countries in Africa and the Caribbean [1]. Outside of West Africa, the Caribbean, which benefits from long-standing prenatal and newborn screening programs across several islands, has the highest SCD incidence [1,3].
SCD is one of the leading causes of death due to non-communicable disease worldwide. Vaso-occlusive crises are the hallmark of the disease in which the abnormal sickle hemoglobin (HbS) distorts the shape of the red blood cells resulting in blockage of blood vessels, leading to various acute complications [4]. Though these acute events largely define the pathophysiology of the disease, repeated vaso-occlusion can result in chronic parenchymal damage to almost every organ system in the body and shortened life expectancy [1,2,4,5]. In addition, individuals living with the disease worldwide face psychosocial issues such as stigma, depression and loneliness, and poor quality of life, as well as wide-scale socioeconomic insecurity [4,6–8].
SCD features significant phenotypic variation that belies its simple monogenic etiology [2,4]. Genetic and environmental factors, and their interaction are believed to play a role in this variability [1,8]. Genetics and genomics research have been essential in defining the nature and course of SCD. Advances in these fields are now revolutionizing how we understand SCD complexity and how we approach SCD treatment and management, including the development and recent approval of CRISPR- based gene editing therapies [9,10]. However, genetics research in general, and SCD research in particular, has been generally limited to high-income countries (HICs). Current estimates indicate that a large, and increasing, proportion of genetics studies have been conducted among individuals with recent genetic and genealogical ancestors from Europe [11]. On the other hand, a mere 1.1% of individuals in these studies were of recent African ancestry, the majority of which were from the United States (US) or the United Kingdom (UK), representing only a subset of African genetic diversity [11]. As a result, available genetics-related health data are largely skewed towards higher income regions and populations of European genetic and genealogic ancestry. The transportability of these genetic data to other populations is therefore limited, bearing negative consequences for scientific advancement and health equity [11,12]. Much of these disparities in genetics research participation largely stem from under-equipped research and health infrastructures in LMICs [13].
Research consortia such as the Human Heredity and Health in Africa (H3Africa) initiative have advanced work to develop genetics and genomics research infrastructure, including biorepositories, throughout the African continent to investigate diseases including SCD [13]. Genomics research is emerging more slowly in the Caribbean. The region’s significant genetic diversity and admixed genetic ancestry from European, African, and Indigenous ancestral populations, however, may offer unique insights into genetic contributions to disease variability, making it an ideal target for genetics research in general and SCD genetics research in particular [14–17]. However, successfully exploiting genetics research to better understand SCD pathophysiology and further facilitate treatment development largely depends on participant willingness to enroll and remain in studies. Factors including imperfect understanding of genetic concepts and research processes, and mistrust in researchers due to historical violence and injustice including exploitation can impede research participation, particularly among individuals in LMICs [11]. Therefore, in order to facilitate effective research within these populations, it is fundamental that researchers understand stakeholders’ perspectives on genetics research, and motivators and deterrents to genetics research participation.
Quantitative and qualitative work to understand drivers of and barriers to genetics research participation has been conducted in various communities and for various diseases globally, though much of this has been largely concentrated in HICs [18–20]. Studies engaging immigrant populations in the US have also provided important insight, highlighting issues of colonial mistreatment and exploitation as barriers to genetics research participation [21]. However, few studies have engaged SCD communities in the US and Africa on genetics research participation [22–24]. To our knowledge, no studies have similarly engaged SCD stakeholders in Jamaica or the wider Caribbean.
In the present study, we examined SCD patient, parent, and provider perspectives on SCD genetics research in Jamaica, the third largest island in the Caribbean. Jamaica, where the coverage of newborn screening (NBS) programs exceeds 99.9%, has the highest recorded SCD prevalence (0.65% or 1 in 153 live births [1,3]) in the region. This high SCD prevalence and the significant contributions Jamaica has made to SCD research have made the island an ideal site for these investigations. Therefore, we explored the understanding of SCD genetics research and motivators and deterrents to genetic research participation among these stakeholders. Using these perspectives, researchers may develop a potential framework to guide the conduct of genetics research in Jamaica. Additionally, this research may inform further stakeholder engagement efforts in the wider Caribbean.
Participants were recruited from the Sickle Cell Unit (SCU). The SCU is part of the Caribbean Institute for Health Research. Participants were ten (10) SCD patients who were 18 years or older, 9 parents of pediatric SCD patients and 10 healthcare providers who worked at the SCU in clinical care or research. From September to December 2020, Providers were recruited through convenience sampling, while patients and parents were randomly selected from a list of patient data. However, given the greater number of female patients and parents being enrolled into the study, we then implemented a purposive sampling strategy to ensure that male patients and parents were included. Sample sizes were chosen with the aim of achieving thematic saturation within each group and across the entire study population [25,26].
The instrument used in this study was a semi-structured in-depth interview guide (S1 Appendix). The guide was used to ensure that interviews were standardized. The interview guide adapted and modified the community engagement format and surveys developed by the Sickle Cell Disease Genomics Network in Africa (SickleGenAfrica) [22]. Previously used in Ghana (Accra), Nigeria (Abuja, Kano and Lagos), and Tanzania (Dar es Salaam), these instruments were developed to explore specific issues in genetics research, including sample collection and storage in biorepositories [22]. The instruments were modified into one document to fit the semi- structured, in-depth interview format, and to include questions that explored issues surrounding curative therapies for sickle cell disease. Further questions explored knowledge of and attitudes towards SCD cures, individual experiences with SCD management and treatment, and the socioeconomic and psychosocial challenges related to SCD to better contextualize participant attitudes toward genetics research and SCD cures.
Transcripts were produced by the Zoom audio transcription function. The transcripts were then cleaned and edited for accuracy. Words or phrases in Jamaican Patois were rewritten into Standard English, or otherwise clarified where it was determined necessary and where doing so would not interfere with the sentiments or ideas the participant sought to express. Participant demographic survey information was compiled into an Excel document. These documents were imported into NVivo 12 for analysis. Transcripts were closely read and structurally coded by a single coder (KJ) based on interview questions and the general structure of the interview guide (S2 Appendix) through thematic analysis based on the methods described in Saldaña [27]. Codes and themes were reviewed by a second author (CR). Themes related to participants’ attitudes towards genetics research were identified. These themes and corresponding codes were compiled into a master codebook that defined codes and specified their potential uses. Interview transcripts were then further coded based on these emergent themes. Memos were written to summarize preliminary findings from this first pass thematic coding [27]. Additional themes identified during these processes were added to the codebook and transcripts were recoded where necessary. Nvivo queries, including matrix coding and cross tabulation, were then run to compare codes across participant types and to make comparisons between relevant codes.
A total of 29 interviews were conducted including 10 Providers, 10 patients and 9 parents. Participant demographic information is summarized in Table 1. Participant age ranged from 22 to 64 years. Providers had the highest average age of 44.6 years followed by parents (38.1 years) and patients (36.1 years). Approximately seventy-two percent of respondents were female. Only 2 male providers, 3 male patients and 3 male parents participated in the study. Approximately 82% of participants identified as black and 93.1% identified as Christian. While most providers and patients (100% and 60% respectively) had some tertiary level education, most parents’ (88.9%) highest education level was at the secondary level. Thirty percent (30%) of providers, 100% of patients and 55.6% of parents had a family member (other than themselves or their children) with SCD. Providers were either doctors, nurses, or social workers. Patients’ reported genotypes included SS, SC and Sß-Thalassemia, and a range of illness severities. Finally, parents included 6 mothers, 2 fathers, 1 grandmother, and 1 uncle who were either the child’s primary caregiver, or co-caregiver.
Participants were generally enthusiastic about SCD genetics research as they believed it could a) lead to better treatment options or b) advance SCD knowledge. This theme is summarized in Table 2 and further explained below.
Providers, patients, and parents believed genetics research would bring about improved SCD treatment options (Table 2). Providers discussed the physical, mental, and emotional challenges SCD patients and their parents face. They explained that patients and parents were desperate for a solution and often found the options available to them limited.
To a lesser extent, respondents’ support for or willingness to participate in SCD genetics research was related to the belief that it would advance SCD knowledge (Table 2). Providers explained that SCD genetics research would lead to improved understanding of the disease pathophysiology and symptoms. One provider, for example, discussed a study he was involved in that planned to use genetic research to better understand SCD pain:
Patients also reflected on the gaps present in SCD knowledge and saw SCD genetics research as a way to help fill these gaps. They praised the advances that had been made recently but felt that current knowledge was inadequate and there was still much to be understood. However, patients and parents of patients more often saw SCD genetics research as a way to better understand their personal health or ancestry (Table 2). They viewed it as a sort of health screening that could predict future health issues or provide guidance on how to better care for one’s health. One patient stated,
Participants also displayed skepticism or reluctance towards SCD genetics research participation. This was driven by concerns about a) invasiveness, b) misuse, c) the unknown, and d) the time and inconvenience. This theme is summarized in Table 3 and explained in the sections that follow.
All participant groups also hoped genetics research would improve the overall SCD knowledge base. Providers emphasized the importance of Jamaicans’ participation in such research towards achieving this goal. However, many patients’ and parents’ interest in genetics research was driven by the personal SCD knowledge they believed it would provide. Patients and parents felt that genetics research would provide a means by which certain health concerns could be diagnosed or better defined, and would offer insights into overall health and heredity. They also believed it would empower SCD patients to make informed decisions about partner selection and reproduction, and to ensure that their children and grandchildren did not face the same challenges they had. These attitudes towards SCD knowledge were similar to those seen within other communities. Previous studies found that Kenyan SCD stakeholders and Black African immigrant community leaders spoke of the benefits of acquiring personal SCD knowledge through research [21,28]. Likewise, they believed this knowledge would empower members of the SCD community to make informed health decisions and be better able to “manage future reproductive risks” [21,28].
Patients’ and parents’ belief that research participation would yield personalized results about heredity and individual health pointed to what Tindana and de Vries termed diagnostic misconception [29]. They defined this as a phenomenon in which participants conflated research with health screening or diagnostic efforts [29]. Some patients and parents also conflated SCD research with receiving SCD treatment. This therapeutic misconception became increasingly evident as many patients and parents discussed genetics research participation as if speaking about receiving SCD treatments or cures. They appeared to view these two concepts as the same, rather than seeing genetics research as a path to improved SCD treatment options. Many patients and parents therefore framed patient participation in genetics research around this therapeutic misconception.
Though evident in many settings, both therapeutic and diagnostic misconception have been widely described in relation to studies conducted in LMICs [29–32]. Tindana, et al., for example, described this phenomenon in participant understandings of the MalariaGEN study and their motivations for study participation [30]. The presence of these misconceptions among certain patients and parents in that study suggested limited understanding of the aims and methods involved in genetics research, similar to what was observed in this present investigation. Therapeutic and diagnostic misconceptions could have significant implications for participant autonomy. They can create false inducement among study participants and result in confusion or unmet expectations [32]. Furthermore, participants who carry these misconceptions may not understand the implications of their consent. Particularly, confusion may arise regarding key elements of genetics research studies such as biospecimen storage and future sample use [29].
Despite this generally positive attitude towards genetics research, respondents also expressed reservations about SCD genetics research participation. Mistrust, and invasiveness and loss of privacy were significant points of concern among providers, patients, and parents. Mistrust was most often described by healthcare providers. Providers, patients, and parents described both their own concerns about misuse and mistrust, and concerns heard within their communities. Mistrust and fears of misuse often stemmed from misinformation about researcher motivations and spread by way of online sources, or throughout communities by word of mouth. Some participants, however, cited a history of abuse and misconduct in research that disproportionately affected black and other minoritized peoples globally [33,34].
Participants also expressed concerns about loss of privacy through their participation in genetics research. Patients and parents in particular prioritized privacy in matters of family and health. They worried that genetics research could expose sensitive information about one’s illness and family that they hoped to keep private. Previous studies cited a similar urge towards privacy as protection from stigma, oppression or harm [21,22,35].

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Outside of West Africa, the Caribbean, which benefits from long-standing prenatal and newborn screening programs across several islands, has the highest SCD incidence [1,3].\"}, {\"pmc\": \"PMC12829944\", \"pmid\": \"\", \"reference_ids\": [\"pgph.0005789.ref004\", \"pgph.0005789.ref001\", \"pgph.0005789.ref002\", \"pgph.0005789.ref004\", \"pgph.0005789.ref005\", \"pgph.0005789.ref004\", \"pgph.0005789.ref006\", \"pgph.0005789.ref008\"], \"section\": \"Introduction\", \"text\": \"SCD is one of the leading causes of death due to non-communicable disease worldwide. Vaso-occlusive crises are the hallmark of the disease in which the abnormal sickle hemoglobin (HbS) distorts the shape of the red blood cells resulting in blockage of blood vessels, leading to various acute complications [4]. Though these acute events largely define the pathophysiology of the disease, repeated vaso-occlusion can result in chronic parenchymal damage to almost every organ system in the body and shortened life expectancy [1,2,4,5]. In addition, individuals living with the disease worldwide face psychosocial issues such as stigma, depression and loneliness, and poor quality of life, as well as\\u00a0wide-scale\\u00a0socioeconomic insecurity [4,6\\u20138].\"}, {\"pmc\": \"PMC12829944\", \"pmid\": \"\", \"reference_ids\": [\"pgph.0005789.ref002\", \"pgph.0005789.ref004\", \"pgph.0005789.ref001\", \"pgph.0005789.ref008\", \"pgph.0005789.ref009\", \"pgph.0005789.ref010\", \"pgph.0005789.ref011\", \"pgph.0005789.ref011\", \"pgph.0005789.ref011\", \"pgph.0005789.ref012\", \"pgph.0005789.ref013\"], \"section\": \"Introduction\", \"text\": \"SCD features significant phenotypic variation that belies its simple monogenic etiology [2,4]. Genetic and environmental factors, and their interaction are believed to play a role in this variability [1,8]. Genetics and genomics research have been essential in defining the nature and course of SCD. Advances in these fields are now revolutionizing how we understand SCD complexity and how we approach SCD treatment and management, including the development and recent approval of CRISPR- based gene editing therapies [9,10]. However, genetics research in general, and SCD research in particular, has been generally limited to high-income countries (HICs). Current estimates indicate that a large, and increasing, proportion of genetics studies have been conducted among individuals with recent genetic and genealogical ancestors from Europe [11]. On the other hand, a mere 1.1% of individuals in these studies were of recent African ancestry, the majority of which were from the United States (US) or the United Kingdom (UK), representing only a subset of African genetic diversity [11]. As a result, available genetics-related health data are largely skewed towards higher income regions and populations of European genetic and genealogic ancestry. The transportability of these genetic data to other populations is therefore limited, bearing negative consequences for scientific advancement and health equity [11,12]. Much of these disparities in genetics research participation largely stem from under-equipped research and health infrastructures in LMICs [13].\"}, {\"pmc\": \"PMC12829944\", \"pmid\": \"\", \"reference_ids\": [\"pgph.0005789.ref013\", \"pgph.0005789.ref014\", \"pgph.0005789.ref017\", \"pgph.0005789.ref011\"], \"section\": \"Introduction\", \"text\": \"Research consortia such as the Human Heredity and Health in Africa (H3Africa) initiative have advanced work to develop genetics and genomics research infrastructure, including biorepositories, throughout the African continent to investigate diseases including SCD [13]. Genomics research is emerging more slowly in the Caribbean. The region\\u2019s significant genetic diversity and admixed genetic ancestry from European, African, and Indigenous ancestral populations, however, may offer unique insights into genetic contributions to disease variability, making it an ideal target for genetics research in general and SCD genetics research in particular [14\\u201317]. However, successfully exploiting genetics research to better understand SCD pathophysiology and further facilitate treatment development largely depends on participant willingness to enroll and remain in studies. Factors including imperfect understanding of genetic concepts and research processes, and mistrust in researchers due to historical violence and injustice including exploitation can impede research participation, particularly among individuals in LMICs [11]. Therefore, in order to facilitate effective research within these populations, it is fundamental that researchers understand stakeholders\\u2019 perspectives on genetics research, and motivators and deterrents to genetics research participation.\"}, {\"pmc\": \"PMC12829944\", \"pmid\": \"\", \"reference_ids\": [\"pgph.0005789.ref018\", \"pgph.0005789.ref020\", \"pgph.0005789.ref021\", \"pgph.0005789.ref022\", \"pgph.0005789.ref024\"], \"section\": \"Introduction\", \"text\": \"Quantitative and qualitative work to understand drivers of and barriers to genetics research participation has been conducted in various communities and for various diseases globally, though much of this has been largely concentrated in HICs [18\\u201320]. Studies engaging immigrant populations in the US have also provided important insight, highlighting issues of colonial mistreatment and exploitation as barriers to genetics research participation [21]. However, few studies have engaged SCD communities in the US and Africa on genetics research participation [22\\u201324]. To our knowledge, no studies have similarly engaged SCD stakeholders in Jamaica or the wider Caribbean.\"}, {\"pmc\": \"PMC12829944\", \"pmid\": \"\", \"reference_ids\": [\"pgph.0005789.ref001\", \"pgph.0005789.ref003\"], \"section\": \"Introduction\", \"text\": \"In the present study, we examined SCD patient, parent, and provider perspectives on SCD genetics research in Jamaica, the third largest island in the Caribbean. Jamaica, where the coverage of newborn screening (NBS) programs exceeds 99.9%, has the highest recorded SCD prevalence (0.65% or 1 in 153 live births [1,3]) in the region. This high SCD prevalence and the significant contributions Jamaica has made to SCD research have made the island an ideal site for these investigations. Therefore, we explored the understanding of SCD genetics research and motivators and deterrents to genetic research participation among these stakeholders. Using these perspectives, researchers may develop a potential framework to guide the conduct of genetics research in Jamaica. Additionally, this research may inform further stakeholder engagement efforts in the wider Caribbean.\"}, {\"pmc\": \"PMC12829944\", \"pmid\": \"\", \"reference_ids\": [\"pgph.0005789.ref025\", \"pgph.0005789.ref026\"], \"section\": \"Participants and recruitment\", \"text\": \"Participants were recruited from the Sickle Cell Unit (SCU). The SCU is part of the Caribbean Institute for Health Research. Participants were ten (10) SCD patients who were 18 years or older, 9 parents of pediatric SCD patients and 10 healthcare providers who worked at the SCU in clinical care or research. From September to December 2020, Providers were recruited through convenience sampling, while patients and parents were randomly selected from a list of patient data. However, given the greater number of female patients and parents being enrolled into the study, we then implemented a purposive sampling strategy to ensure that male patients and parents were included. Sample sizes were chosen with the aim of achieving thematic saturation within each group and across the entire study population [25,26].\"}, {\"pmc\": \"PMC12829944\", \"pmid\": \"\", \"reference_ids\": [\"pgph.0005789.s001\", \"pgph.0005789.ref022\", \"pgph.0005789.ref022\"], \"section\": \"Data collection instruments\", \"text\": \"The instrument used in this study was a semi-structured in-depth interview guide (S1 Appendix). The guide was used to ensure that interviews were standardized. The interview guide adapted and modified the community engagement format and surveys developed by the Sickle Cell Disease Genomics Network in Africa (SickleGenAfrica) [22]. Previously used in Ghana (Accra), Nigeria (Abuja, Kano and Lagos), and Tanzania (Dar es Salaam), these instruments were developed to explore specific issues in genetics research, including sample collection and storage in biorepositories [22]. The instruments were modified into one document to fit the semi- structured, in-depth interview format, and to include questions that explored issues surrounding curative therapies for sickle cell disease. Further questions explored knowledge of and attitudes towards SCD cures, individual experiences with SCD management and treatment, and the socioeconomic and psychosocial challenges related to SCD to better contextualize participant attitudes toward genetics research and SCD cures.\"}, {\"pmc\": \"PMC12829944\", \"pmid\": \"\", \"reference_ids\": [\"pgph.0005789.s002\", \"pgph.0005789.ref027\", \"pgph.0005789.ref027\"], \"section\": \"Analysis\", \"text\": \"Transcripts were produced by the Zoom audio transcription function. The transcripts were then cleaned and edited for accuracy. Words or phrases in Jamaican Patois were rewritten into Standard English, or otherwise clarified where it was determined necessary and where doing so would not interfere with the sentiments or ideas the participant sought to express. Participant demographic survey information was compiled into an Excel document. These documents were imported into NVivo 12 for analysis. Transcripts were closely read and structurally coded by a single coder (KJ) based on interview questions and the general structure of the interview guide (S2 Appendix) through thematic analysis based on the methods described in Salda\\u00f1a [27]. Codes and themes were reviewed by a second author (CR). Themes related to participants\\u2019 attitudes towards genetics research were identified. These themes and corresponding codes were compiled into a master codebook that defined codes and specified their potential uses. Interview transcripts were then further coded based on these emergent themes. Memos were written to summarize preliminary findings from this first pass thematic coding [27]. Additional themes identified during these processes were added to the codebook and transcripts were recoded where necessary. Nvivo queries, including matrix coding and cross tabulation, were then run to compare codes across participant types and to make comparisons between relevant codes.\"}, {\"pmc\": \"PMC12829944\", \"pmid\": \"\", \"reference_ids\": [\"pgph.0005789.t001\"], \"section\": \"Results\", \"text\": \"A total of 29 interviews were conducted including 10 Providers, 10 patients and 9 parents. Participant demographic information is summarized in Table 1. Participant age ranged from 22 to 64 years. Providers had the highest average age of 44.6 years followed by parents (38.1 years) and patients (36.1 years). Approximately seventy-two percent of respondents were female. Only 2 male providers, 3 male patients and 3 male parents participated in the study. Approximately 82% of participants identified as black and 93.1% identified as Christian. While most providers and patients (100% and 60% respectively) had some tertiary level education, most parents\\u2019 (88.9%) highest education level was at the secondary level. Thirty percent (30%) of providers, 100% of patients and 55.6% of parents had a family member (other than themselves or their children) with SCD. Providers were either doctors, nurses, or social workers. Patients\\u2019 reported genotypes included SS, SC and S\\u00df-Thalassemia, and a range of illness severities. Finally, parents included 6 mothers, 2 fathers, 1 grandmother, and 1 uncle who were either the child\\u2019s primary caregiver, or co-caregiver.\"}, {\"pmc\": \"PMC12829944\", \"pmid\": \"\", \"reference_ids\": [\"pgph.0005789.t002\"], \"section\": \"Results\", \"text\": \"Participants were generally enthusiastic about SCD genetics research as they believed it could a) lead to better treatment options or b) advance SCD knowledge. This theme is summarized in Table 2 and further explained below.\"}, {\"pmc\": \"PMC12829944\", \"pmid\": \"\", \"reference_ids\": [\"pgph.0005789.t002\"], \"section\": \"Results\", \"text\": \"Providers, patients, and parents believed genetics research would bring about improved SCD treatment options (Table 2). Providers discussed the physical, mental, and emotional challenges SCD patients and their parents face. They explained that patients and parents were desperate for a solution and often found the options available to them limited.\"}, {\"pmc\": \"PMC12829944\", \"pmid\": \"\", \"reference_ids\": [\"pgph.0005789.t002\"], \"section\": \"Results\", \"text\": \"To a lesser extent, respondents\\u2019 support for or willingness to participate in SCD genetics research was related to the belief that it would advance SCD knowledge (Table 2). Providers explained that SCD genetics research would lead to improved understanding of the disease pathophysiology and symptoms. One provider, for example, discussed a study he was involved in that planned to use genetic research to better understand SCD pain:\"}, {\"pmc\": \"PMC12829944\", \"pmid\": \"\", \"reference_ids\": [\"pgph.0005789.t002\"], \"section\": \"Results\", \"text\": \"Patients also reflected on the gaps present in SCD knowledge and saw SCD genetics research as a way to help fill these gaps. They praised the advances that had been made recently but felt that current knowledge was inadequate and there was still much to be understood. However, patients and parents of patients more often saw SCD genetics research as a way to better understand their personal health or ancestry (Table 2). They viewed it as a sort of health screening that could predict future health issues or provide guidance on how to better care for one\\u2019s health. One patient stated,\"}, {\"pmc\": \"PMC12829944\", \"pmid\": \"\", \"reference_ids\": [\"pgph.0005789.t003\"], \"section\": \"Results\", \"text\": \"Participants also displayed skepticism or reluctance towards SCD genetics research participation. This was driven by concerns about a) invasiveness, b) misuse, c) the unknown, and d) the time and inconvenience. This theme is summarized in Table 3 and explained in the sections that follow.\"}, {\"pmc\": \"PMC12829944\", \"pmid\": \"\", \"reference_ids\": [\"pgph.0005789.ref021\", \"pgph.0005789.ref028\", \"pgph.0005789.ref021\", \"pgph.0005789.ref028\"], \"section\": \"Discussion\", \"text\": \"All participant groups also hoped genetics research would improve the overall SCD knowledge base. Providers emphasized the importance of Jamaicans\\u2019 participation in such research towards achieving this goal. However, many patients\\u2019 and parents\\u2019 interest in genetics research was driven by the personal SCD knowledge they believed it would provide. Patients and parents felt that genetics research would provide a means by which certain health concerns could be diagnosed or better defined, and would offer insights into overall health and heredity. They also believed it would empower SCD patients to make informed decisions about partner selection and reproduction, and to ensure that their children and grandchildren did not face the same challenges they had. These attitudes towards SCD knowledge were similar to those seen within other communities. Previous studies found that Kenyan SCD stakeholders and Black African immigrant community leaders spoke of the benefits of acquiring personal SCD knowledge through research [21,28]. Likewise, they believed this knowledge would empower members of the SCD community to make informed health decisions and be better able to \\u201cmanage future reproductive risks\\u201d [21,28].\"}, {\"pmc\": \"PMC12829944\", \"pmid\": \"\", \"reference_ids\": [\"pgph.0005789.ref029\", \"pgph.0005789.ref029\"], \"section\": \"Discussion\", \"text\": \"Patients\\u2019 and parents\\u2019 belief that research participation would yield personalized results about heredity and individual health pointed to what Tindana and de Vries termed diagnostic misconception [29]. They defined this as a phenomenon in which participants conflated research with health screening or diagnostic efforts [29]. Some patients and parents also conflated SCD research with receiving SCD treatment. This therapeutic misconception became increasingly evident as many patients and parents discussed genetics research participation as if speaking about receiving SCD treatments or cures. They appeared to view these two concepts as the same, rather than seeing genetics research as a path to improved SCD treatment options. Many patients and parents therefore framed patient participation in genetics research around this therapeutic misconception.\"}, {\"pmc\": \"PMC12829944\", \"pmid\": \"\", \"reference_ids\": [\"pgph.0005789.ref029\", \"pgph.0005789.ref032\", \"pgph.0005789.ref030\", \"pgph.0005789.ref032\", \"pgph.0005789.ref029\"], \"section\": \"Discussion\", \"text\": \"Though evident in many settings, both therapeutic and diagnostic misconception have been widely described in relation to studies conducted in LMICs [29\\u201332]. Tindana, et al., for example, described this phenomenon in participant understandings of the MalariaGEN study and their motivations for study participation [30]. The presence of these misconceptions among certain patients and parents in that study suggested limited understanding of the aims and methods involved in genetics research, similar to what was observed in this present investigation. Therapeutic and diagnostic misconceptions could have significant implications for participant autonomy. They can create false inducement among study participants and result in confusion or unmet expectations [32]. Furthermore, participants who carry these misconceptions may not understand the implications of their consent. Particularly, confusion may arise regarding key elements of genetics research studies such as biospecimen storage and future sample use [29].\"}, {\"pmc\": \"PMC12829944\", \"pmid\": \"\", \"reference_ids\": [\"pgph.0005789.ref033\", \"pgph.0005789.ref034\"], \"section\": \"Discussion\", \"text\": \"Despite this generally positive attitude towards genetics research, respondents also expressed reservations about SCD genetics research participation. Mistrust, and invasiveness and loss of privacy were significant points of concern among providers, patients, and parents. Mistrust was most often described by healthcare providers. Providers, patients, and parents described both their own concerns about misuse and mistrust, and concerns heard within their communities. Mistrust and fears of misuse often stemmed from misinformation about researcher motivations and spread by way of online sources, or throughout communities by word of mouth. Some participants, however, cited a history of abuse and misconduct in research that disproportionately affected black and other minoritized peoples globally [33,34].\"}, {\"pmc\": \"PMC12829944\", \"pmid\": \"\", \"reference_ids\": [\"pgph.0005789.ref021\", \"pgph.0005789.ref022\", \"pgph.0005789.ref035\"], \"section\": \"Discussion\", \"text\": \"Participants also expressed concerns about loss of privacy through their participation in genetics research. Patients and parents in particular prioritized privacy in matters of family and health. They worried that genetics research could expose sensitive information about one\\u2019s illness and family that they hoped to keep private. Previous studies cited a similar urge towards privacy as protection from stigma, oppression or harm [21,22,35].\"}]"

Metadata

"{\"Data Availability\": \"All relevant data are within the paper and its \", \"Submission Version\": \"1\"}"