Abstract
Geographical ancestry has been associated with an increased risk of various genetic conditions. Race and ethnicity often have been used as proxies for geographical ancestry. Despite numerous problems associated with the crude reliance on race and ethnicity as proxies for geographical ancestry, some genetic testing in the clinical, research, and employment settings has been and continues to be race- or ethnicity-based. Race-based or race-targeted genetic testing refers to genetic testing offered only or primarily to people of particular racial or ethnic groups because of presumed differences among groups. One current example is APOL1 testing of Black kidney donors. Race-based genetic testing raises numerous ethical and policy questions. Given the ongoing reliance on the Black race in genetic testing, it is important to understand the views of people who identify as Black or are identified as Black (including African American, Afro-Caribbean, and Hispanic Black) regarding race-based genetic testing that targets Black people because of their race. We conducted a systematic review of studies and reports of stakeholder-engaged projects that examined how people who identify as or are identified as Black perceive genetic testing that specifically presumes genetic differences exist among racial groups or uses race as a surrogate for ancestral genetic variation and targets Black people. Our review identified 14 studies that explicitly studied this question and another 13 that implicitly or tacitly studied this matter. We found four main factors that contribute to a positive attitude toward race-targeted genetic testing (facilitators) and eight main factors that are associated with concerns regarding race-targeted genetic testing (barriers). This review fills an important gap. These findings should inform future genetic research and the policies and practices developed in clinical, research, public health, or other settings regarding genetic testing.
Keywords: African American, African ancestry, attitudes, Black, discrimination, disparities, ELSI, ethics, genetic screening, genetic testing, race, stigma, underrepresented populations
1 ∣. BACKGROUND
The prevalence of gene variants associated with disease sometimes varies by geographical ancestry, though data supporting these differences may not be reliable because of the over-representation of people with European ancestry in population samples (Popejoy & Fullerton, 2016). Race and ethnicity often are used as proxies or surrogates for geographical ancestry (Race, Ethnicity, and Genetics Working Group, 2005), and people from specific racial or ethnic groups are then deemed to be at increased risk of having particular variants. According to many scholars, race and ethnicity are poor substitutes for ancestry (Bamshad & Olson, 2003; Borrell et al., 2021; Braun et al., 2007; Caulfield et al., 2009; Goodman, 2020; Goodman et al., 1999; Powe, 2020; Serre & Pääbo, 2004). Personalized medicine with individual genetic testing has been proposed as an alternative to the crude reliance on race as a proxy for ancestry and genetic risk (Ng et al., 2008). Yet, because of associations among geographical ancestry, race and ethnicity, and genetics, some genetic testing in the clinical, research, public health, and employment settings has been or is race- or ethnicity-based (Jakobsson et al., 2008; Jun et al., 2008). Race-based or race-targeted genetic testing (RTGT) refers to genetic testing offered to people of particular racial or ethnic groups because of presumed genetic differences among groups.
Familiar examples of RTGT include Tay-Sachs Disease (TSD), cystic fibrosis (CF), and sickle cell disease and trait (SCD and SCT). TSD, particularly prevalent in the Ashkenazi population, often is spoken of as a Jewish disease (Ershkowitz, 1980). Current American Congress of Obstetrics and Gynecology (ACOG) recommendations for some carrier screening, such as TSD, are based on ethnicity, a practice that has been criticized (American College of Obstetricians and Gynecologists, 2017; Ross, 2012). CF often is thought to affect White people or people of European descent (Wilfond & Fost, 1990). Prior to 2005, consensus group recommendations advised screening non-Hispanic Caucasians (“ACOG Committee Opinion. Number 325, December 2005. Update on carrier screening for cystic fibrosis,”,2005; American College of Obstetricians and Gynecologists, 2001). SCD has long been seen as a Black disease in the United States, even though it is found in other populations. The 1972 National Sickle Cell Anemia Control Act ushered in an era of screening for SCD and SCT (SC carrier) that targeted Black people (“National Sickle Cell Anemia Control Act,” 1972; Markel, 1997; Rutkow & Lipton, 1974). Current ACOG recommendations advise screening all pregnant women or women considering pregnancy for the risk of hemoglobinopathies, including SCD, regardless of race or ethnicity (American College of Obstetricians and Gynecologists, 2017). Additional screening for SCD and other hemoglobinopathies is recommended for some racial and ethnic groups. Today, in the US, it is recommended that all newborns be screened for SCD or SCT (American Academy of Family Physicians, 2007; Kaye, 2006; U. S. Preventive Services Task Force, 2008; Watson et al., 2006). Previously screening was often offered or recommended based on race (Benson & Therrell Jr, 2010; Olney, 1999). The National Collegiate Athletic Association (NCAA) currently screens all college athletes for SCT; some schools targeted African American or Black athletes prior to implementing universal screening (Jordan et al., 2011). Employers also have used race-based SC screening (Pendo, 2010).
The history of SCD and SCT screening in the US is fraught with concerns about discrimination, stigmatization, the accuracy of tests, misunderstandings regarding the difference between SCD and SCT, claims of genocide, and a general insensitivity to race issues (Ershkowitz, 1980; Markel, 1997; Ross, 2009; Wilfond & Fost, 1990). Other RTGT directed to Black people might raise similar concerns. Presently, APOL1 genetic testing in the context of living donor kidney transplantation (LDKT) is based on Black race because of reports that some living kidney donors (LKDs) with two risk variants experienced a more rapid decline in kidney function after donation than other LKDs (Newell et al., 2017; Riella & Sheridan, 2015; Ross & Thistlethwaite Jr, 2016; Kofman et al., 2014; Doshi et al., 2018). Practices vary across transplant programs in terms of whether testing is offered, how potential living donor race is determined, how individuals are identified for testing, and how test results are used, yet testing consistently is associated with donor race (Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019; McIntosh et al., 2020). Other possible clinical applications of APOL1 testing are tied to Black race (Friedman & Pollak, 2021; Kopp & Winkler, 2020). A national study, APOL1 Long-Term Kidney Transplantation Outcomes Network (APOLLO), is underway in the United States to assess the impact of living and deceased Black kidney donors' genotype on allograft survival and function (Freedman et al., 2020; Freedman & Moxey-Mims, 2018).
APOLLO is not the only RTGT study underway. The ongoing Primary Open-Angle African American Glaucoma Genetics Study seeks to identify variants that can help explain the increased incidence and earlier onset of glaucoma in Black people (Charlson et al., 2015). In other cases, discrepancies in disease burden and uptake of genetic screening have prompted RTGT, even when it is unknown whether genetic risks are higher. Such is the case with BRCA1/2 testing (Jones et al., 2017; Kendall et al., 2007; Lee et al., 2005; Murthy et al., 2011; Ochs-Balcom et al., 2011, 2015).
Numerous concerns have been raised regarding the use of race in genetic research (Caulfield et al., 2009; Cerdeña et al., 2021) and the use of race in medicine more broadly (Braun et al., 2007; Powe, 2020; Roberts, 2011; Vyas et al., 2020; Williams et al., 2020). Some scientists defend the importance of its judicious use (Bentley et al., 2020; Borrell et al., 2021; Burchard et al., 2003; Risch et al., 2002). Others call for abandoning the use of race in biomedical research (Bhopal & Donaldson, 1998; Duello et al., 2021; Fullilove, 1998; Stevens, 2003).
In light of this background, the current race-based application of APOL1 testing, and other current and possible future RTGT programs, we sought to review the literature on research and reports of community-engaged projects that have examined the attitudes, beliefs, and perspectives of people who identify as Black or are identified as Black regarding RTGT programs that target Black people because of their race. We use the term ‘Black’ to include people who identify as or are identified as African American, Afro-Caribbean, and Hispanic Black. Previous systematic reviews have addressed questions related to race and genetic testing, including attitudes and knowledge regarding genetic testing in general and disease-specific genetic testing, as well as participation in research on genetic variation, among different racial and ethnic groups (Braun et al., 2007; Canedo et al., 2019; Fisher et al., 2020; Hann et al., 2017; Scherr et al., 2019; Sterling et al., 2006). Numerous studies explore mechanisms to increase the participation of Black people in genetic research with the goal of diversifying participant samples or increasing the uptake of genetic testing that is offered to all patients. Such efforts differ from RTGT, which is based on presumed differences among racial groups, such as APOL1 testing that is offered only to Black or African American potential LKDs or APOL1 research that involves testing only Black deceased donors. Genetic testing that presumes differences among racial groups in terms of variants that are found exclusively or almost exclusively in a racial group or that are found at higher rates in particular racial groups may involve distinct ethical issues and concerns. These include questions about who should be tested and why, what information people should receive to determine whether and when to be tested as well as when returning results, how test results should be used, and who should have access to results (McIntosh et al., 2020). Thus, we sought to identify facilitators or factors that contributed to a positive attitude toward RTGT and barriers or concerns regarding RTGT.
To date, we know of no published systematic reviews on the topic of how people who identify as or are identified as Black perceive genetic testing that specifically presumes genetic differences exist among racial groups or uses race as a surrogate for ancestral genetic variation and targets Black people. This review fills an important gap. It is important to consider stakeholder interests, perspectives, and goals to demonstrate respect and build and maintain trust in clinical care, research, and public health programs. These findings should inform future genetic research and the policies and practices developed in clinical, research, public health, or other settings regarding genetic testing.
2 ∣. METHODS
This systematic review followed PRISMA guidelines (Moher et al., 2015; Shamseer et al., 2015). The protocol is published at Open Science Forum and was registered on January 13, 2022.
2.1 ∣. Eligibility
We included publications that examined the attitudes, perspectives, beliefs, or views of Black people regarding RTGT, where genetic differences among racial groups are presumed. We did not include studies that addressed only knowledge about genetic testing or genetic disease. Consistent with published recommendations, we included abstracts (Scherer & Saldanha, 2019) and dissertations (Paez, 2017). For inclusion, studies or community-engaged projects had to have been conducted at least partially in the United States, be published in English, and report on the attitudes, perspectives, beliefs, or views of Black people regarding RTGT where there is a presumption of genetic differences among racial groups. Community-engaged projects include consultations, meetings, or other activities aimed at identifying stakeholder values, preferences, concerns, goals, or priorities regarding RTGT. We included qualitative, quantitative, and mixed methods studies. We excluded commentaries, editorials, and theoretical or background articles that did not report on a study or community-engaged project.
2.2 ∣. Search
A medical librarian (LHY) searched the literature for records including the concepts of genetic testing, Black people, African American, African ancestry, sickle cell, APOL1, attitudes, perspectives, and beliefs. The librarian created search strategies using a combination of keywords and controlled vocabulary in Embase.com 1947-, Ovid Medline 1946-, Scopus 1823-, Cochrane Central Register of Controlled Trials (CENTRAL), Cochrane Database of Systematic Reviews (CDSR), APA PyscINFO (Ebsco) 1800-, SocINDEX (Ebsco)1809-, and Clinicaltrials.gov 1997-. All the search strategies were completed on August 16, 2021, with no added limits, and a total of 1230 results were found. 628 duplicate records were deleted after using the de-duplication processes described in “De-duplication of database search results for systematic reviews in EndNote” (Bramer et al., 2016), resulting in a total of 602 unique citations included in the project library. Fully reproducible search strategies for each database can be found in Appendix S1. Upon the first review of the project library by two authors (ASI and LR), an additional 7 duplicate citations were identified and removed, for a final total of 595 unique citations in the project library.
2.3 ∣. Study selection
Figure 1 presents the selection process, which followed the PRISMA guidelines (Moher et al., 2015; Shamseer et al., 2015). Initial screening (Phase 1) was done by two authors (ASI and LR) using Rayyan web-based systematic review software. The authors screened titles and abstract. If the abstract did not clearly indicate that an article should be excluded, it was tagged as a “Maybe” and advanced to the next round. Determinations on every article where reviewers conflicted were resolved through discussion and review of the material, allowing us to have a 100% consensus rate. During Phase 1, articles were either excluded based on the highest-ranking exclusion criteria or marked as “Maybe” for further review and reading of the full article. Articles were only tagged with one exclusion criteria. The exclusion hierarchy is reported in Table S1.
FIGURE 1.
PRSIMA flow chart
We acquired full texts for all of the initial citations tagged “Maybe” (n = 204). Full texts were stored and reviewed in Endnote.
In our initial review of the full texts, we found that many studies or community-engaged projects about RTGT where differences among racial groups were presumed did not appear to explicitly ask participants about their views regarding the race-based or race-targeted nature of the testing. We determined that learning about people's attitudes toward those programs, even where the study design, as reported did not address race explicitly, could inform our understanding of RTGT. Thus, we did two rounds of reviews. Phase 2 aimed at finding reports that explicitly addressed race-based or race-targeted genetic testing, and Phase 3 aimed at finding reports that tacitly addressed these issues, as defined below.
Explicit: projects that inform our understanding of attitudes, perspectives, beliefs, or views about RTGT in any setting where there is a presumption of genetic difference (e.g., variants found only or predominantly in a group or found at higher rate in a group) by explicitly asking about genetic testing based on race.
Tacit: projects that inform our understanding of attitudes, perspectives, beliefs, or views about RTGT in any setting where there is a presumption of genetic difference (e.g., variants found only or predominantly in a group or found at higher rate in a group) by asking questions in the context of a race-based program but without providing evidence that the study explicitly asked about the race-targeted or race-based nature of the program.
We did not have access to all study instruments. It is possible that in studies labeled “Tacit,” participants were explicitly asked about the race-based nature of genetic testing. We relied on the information reported in the publications where we lacked access to complete surveys or interview guides. Disagreements among ASI and LR about whether a publication should be categorized as Explicit or Tacit were resolved through discussion and, where necessary, in consultation with JMD and MG.
Phases 2 and 3 were retrospectively determined to run parallel or equal in terms of priority. Decisions about articles in these phases were made only after both reviewers read each publication in its entirety, or until details in the publication made it clear that it should be excluded (such as when the methods section mentioned only recruiting participants from a site outside the US).
2.4 ∣. Data extraction and synthesis
Data extraction was an iterative process (Thomas & Harden, 2008). A data extraction tool was designed in Google Sheets to gather study characteristics and relevant information with a focus on identifying facilitators or barriers to RTGT. Data extraction categories are listed in Box S1.
One author (ASI) read all the publications and extracted relevant information. All publications were then read again to extract additional data, foster consistency, and begin to identify themes. These results were discussed with JMD and MG. A third round of reading and data extraction was conducted to maximize the relevant information captured. A thematic summary of the results was developed by ASI, JMD, and MG. Our efforts to summarize findings focused on identifying overarching factors that contributed to positive attitudes or concerns with RTGT programs, and the more specific factors falling within each of these categories. All articles reviewed focused on RTGT programs; therefore, we included factors even when it was sometimes unclear whether the factor pertained specifically to the race- or ethnicity-targeted nature of the testing program. The first author summarized the data; all other authors suggested revisions aimed at enhancing clarity and ensuring categories were comprehensive and non-overlapping as far as possible. The authors engaged in three rounds of revisions before settling on a framework.
2.5 ∣. Quality assessment and risk of bias
We included publications of research results from studies using various methods and reports of stakeholder deliberations. Thus, it is not possible to apply a standardized quality assessment methods to the publications. Most of the included publications (n = 22) were articles that appeared in peer-reviewed journals, three were conference abstracts, and two were dissertations. The sample sizes ranged from 5 in a preliminary report (conference abstract) to 1033 people. This wide range reflects the diversity of methods used, which included surveys, focus groups, and interviews. Most studies are not generalizable due to sample sizes and sampling approaches. We did not assess risk of bias.
The best practice when identifying research participant race is to rely on self-identification and to describe the race-classification approach in the Methods (Ghidei et al., 2019). Nevertheless, when the race is used in biomedical research, medical algorithms, or in other ways in medicine, the basis for race classifications is unclear (Bonham et al., 2018; Duello et al., 2021). Approximately half of the included publications (n = 13) did not describe the method by which participants were identified as Black or African–American (Armstrong et al., 2012; Berrigan et al., 2021; Cox et al., 2007; Gordon et al., 2017; Gustafson et al., 2007; Koraishy et al., 2018; Mayo-Gamble et al., 2019; McDonald et al., 2014; Miller, 2020; Myers et al., 2000; Ochs-Balcom et al., 2011; Powell-Young & Spruill, 2013; Umeukeje et al., 2019). Of those that included this information (n = 14), most (n = 12) relied on self-report (Bevan et al., 2003; Halbert et al., 2017; Halbert, Gandy Jr, et al. 2006; Horowitz et al., 2014, 2016, 2017; Kikut et al., 2020; Mayo-Gamble, 2015; Mayo-Gamble et al., 2018; Nooruddin et al., 2020; Parikh et al., 2019; Young et al., 2019), one relied on the medical record (Gordon et al., 2018), and one (Gordon, Amórtegui, et al., 2019) used the medical record and “confirmed” race when participants were recruited, but the confirmation method was unclear (e.g., self-report or researcher assessment).
3 ∣. RESULTS
The initial search yielded 1230 publications. After removing duplicates, 595 citations were reviewed. We excluded 391 publications through the review of titles and abstracts using the hierarchy described in Table S1. We reviewed 204 full-text publications and excluded an additional 177 publications using the same exclusion hierarchy. Twenty-seven publications were included in this review. Upon reviewing the full texts, 13 were categorized as Explicit and 14 as Tacit/Implicit. Study characteristics are summarized in Table S2. See Table 1 for detailed information regarding each publication.
TABLE 1.
Study details
| Authors | Title | Year Published |
Year(s) Conducted |
Publication Type |
Purpose or Research Question |
Methods | Participants: Type and Number |
Genetic test/condition or Research Practice |
Explicit or Implicit regarding RTGT |
|---|---|---|---|---|---|---|---|---|---|
| Armstrong et al. (2012) | The influence of health care policies and health care system distrust on willingness to undergo genetic testing | 2012 | 2006 | Article in Peer Reviewed Journal | Identify factors regarding genetic test delivery that might influence willingness to be tested and differences among sub-groups | Conjoint analysis of three genetic test delivery attributes on willingness to undergo cancer risk genetic testing | General public: 337 adults (African American n = 128 and White n = 209). U.S. national sample. | Cancer Risk | Explicit |
| Berrigan et al. (2021) | Opinions of African American adults about the use of apolipoprotein L1 (ApoL1) genetic testing in living kidney donation and transplantation. | 2021 | 2019 | Article in Peer Reviewed Journal | Assess opinions of African American community members regarding APOL1 testing | Online simulation and survey | General Public: 585 adults with African ancestry. US national sample. | ApoL1 | Explicit |
| Bevan et al. (2003) | Informed lay preferences for delivery of racially varied pharmacogenomics. | 2003 | 2002 | Article in Peer Reviewed Journal | Assess opinions regarding decisions to prescribe medications based on individualized genetic testing, race, or uniform initial prescription | Focus Groups | General Public: 102 adults (61 Black/African American, 24 White/European American, 7 Hispanic/Latino; 12 Multi-Racial). Urban, suburban, and rural Georgia. | Pharmacogenomics | Explicit |
| Cox et al. (2007) | Achieving high rates of consent for genetic testing among African American smokers. | 2007 | Not reported | Article in Peer Reviewed Journal | Assess whether it is possible to obtain consent for genetic analysis from African American smokers participating in tobacco use research | Collect demographic variables and record whether or not consented to genetic testing in parent study on tobacco use | Research Participants who are smokers in a smoking cessation Trial: 755 African American adults. Kansas. | Tobacco Use | Implicit |
| Gordon et al. (2018) | African American living kidney donors' attitudes about genetic testing: Implications for evaluation and informed consent. | 2017 | Not Reported | Abstract | Improve informed consent for living kidney donors by understanding African Americans' attitudes toward and willingness to undergo APOL1 genetic testing | Semi-structured interviews and survey | Living Kidney Donors: 5 African American Living Kidney Donors | ApoL1 | Explicit |
| Gordon et al. (2017) | A Focus group study on African American living donors' treatment preferences, sociocultural factors, and health beliefs about Apolipoprotein L1 genetic testing. | 2019 | 2017 | Article in Peer Reviewed Journal | Assess African American living kidney donors perceptions of APOL1 testing and donation to develop an APOL1 testing educational brochure | Focus Groups | Living Kidney Donors:17 African American adult living kidney donors | ApoL1 | Explicit |
| Gordon, Amórtegui, et al. (2019), Gordon, Amórtegui, et al. (2019), Gordon, Wicklund, et al. (2019) | African American living donors' attitudes about APOL1 genetic testing: A mixed methods study. | 2018 | Not reported | Article in Peer Reviewed Journal | Assess African American living kidney donors' attitudes toward ApoL1 testing, hypothetical decisions regarding donation when 2 ApoL1 risk variants are present, and identify information needs | Semi-structured interviews and survey | Living Kidney Donors: 23 African American adult living kidney donors from one transplant center | ApoL1 | Explicit |
| Gustafson et al. (2007) | Health beliefs among African American women regarding genetic testing and counseling for sickle cell disease. | 2007 | Not Reported | Article in Peer Reviewed Journal | Use the Health Belief Model to improve understanding of factors influencing African American women's decisions regarding genetic testing and counseling for sickle cell disease and trait. | Survey | Ob/Gyn Clinic Patients: 101 African American Women. One clinic in Pittsburgh, Pennsylvania | Sickle Cell Disease and Trait | Implicit |
| Halbert, Gandy Jr, et al., (2006), Halbert, Kessler, et al. (2006) | Intentions to participate in genetics research among African American smokers. | 2006 | 2004–5 | Article in Peer Reviewed Journal | Improve understanding of African American smokers' intentions regarding participation in smoking and genetic research | Interviews | General Public: 128 adult Black smokers. Philadelphia, Pennsylvania | Tobacco Use | Implicit |
| Halbert et al. (2017) | Beliefs about genetically targeted care in African Americans. | 2017 | Not Reported | Article in Peer Reviewed Journal | Evaluate beliefs about genetically targeted care | Phone Surveys | General Patient Population: 152 African Americans who had been seen in a primary care clinic from one institution. Philadelphia, Pennsylvania | Genetically Targeted Care | Implicit |
| Horowitz et al. (2014) | What happens when African ancestry patients learn they have a genetically increased risk for a chronic disease? What do their doctors think? | 2014 | Not Reported | Abstract | Study patients' attitudes toward genetic testing and experience receiving APOL1 genetic test results. Study physicians' attitudes toward incorporating APOL1 results into end stage renal disease risk assessment for Black patients and communicating risk information. | Interviews | Patients with hypertension who had participated in a biorepository and primary care clinicians: 26 self-identified Black or African American adults with hypertension; 15 primary care physicians (13% Black). One health system. | ApoL1 | Explicit |
| Horowitz et al. (2016) | Determining the effects and challenges of incorporating genetic testing into primary care management of hypertensive patients with African ancestry. | 2016 | Not Reported | Article in Peer Reviewed Journal | Supplement Community Advisory Board input to guide development of a study evaluating incorporation of ApoL1 genetic risk information in primary care. | Semi-structured interviews | Patients and Primary Care Clinicians: 26 adult patients with African Ancestry and 15 clinicians (race not specified). New York City area. | ApoL1 | Implicit |
| Horowitz et al. (2017) | Race, genomics and chronic disease: What patients with African Ancestry have to say. | 2017 | Not Reported | Article in Peer Reviewed Journal | Study attitudes and beliefs regarding genetic testing to learn about incorporating genetic risk information into clinical care | Interviews | Patients with Hypertension: 26 African American adults with hypertension. Location not reported. | ApoL1 | Explicit |
| Kikut et al. (2020) | Learning from Black/African American participants: Applying the Integrated Behavioral Model to assess recruitment strategies for a glaucoma genetic study. | 2020 | 2018–9 | Article in Peer Reviewed Journal | Identify motives for participating in parent study, which involved genetic testing for glaucoma risk | Interviews | Participants in parent study on hereditary glaucoma in African Americans: 50 African American adult participants. Philadelphia, Pennsylvania | Glaucoma | Explicit |
| Koraishy et al. (2018) | Opinions of African American hypertensive Veterans and VA primary care physicians regarding APOL1 genetic testing. | 2018 | Not Reported | Abstract | Assess patient and clinician views about genetic testing, hypertension, and kidney disease to evaluate feasibility of genetic screening in Veterans Affairs setting | Interviews | Patients and Clinicians: 10 Primary Care Providers (race not specified) and 10 African American Veterans with hypertension. St. Louis, Missouri | ApoL1 | Implicit |
| Mayo-Gamble (2015) | Understanding factors associated with intention to go to your doctor to ask for sickle cell trait screening among African Americans within middle reproductive age | 2016 | 2015 | Dissertation | Identify factors that might increase likelihood of seeking sickle cell screening | Survey | General Public: 300 African American adults. Indiana | Sickle Cell Trait | Implicit |
| Mayo-Gamble et al. (2018) | Identifying factors underlying the decision for sickle cell carrier screening among African Americans within middle reproductive age. | 2018 | 2015 | Article in Peer Reviewed Journal | Identify factors that influence intentions to learn sickle cell trait status | Survey | General Public: 300 African American adults. Indiana | Sickle Cell Trait | Implicit |
| Mayo-Gamble et al. (2019) | Sickle cell carriers' unmet information needs: Beyond knowing trait | 2019 | Not Reported | Article in Peer Reviewed Journal | Identify information people with sickle cell trait need to make informed reproductive decisions and preferences for communicating information about sickle cell trait | Focus Groups and Survey | Patients: 25 African American adults with sickle cell trait. Tennessee | Sickle Cell Trait | Implicit |
| McDonald et al. (2014) | Intentions to donate to a biobank in a national sample of African Americans. | 2014 | 2010–11 | Article in Peer Reviewed Journal | Identify factors associated with intention to donate information or biospecimens to a biobank | Survey | General Public: 1033 African American adults. National sample. | Biobanking | Explicit |
| Miller (2020) | Cultural characteristics of young Black women as predictors of intentions to engage in potential future targeted recommendations for mammography screening and BRCA1/2 genetic testing | 2021 | Not Reported | Dissertation | Explore response to race-specific breast cancer screening information and recommendations and factors that affect intention to follow recommendations | Scales, surveys, and questionnaires | General public: 69 African American adult women. National sample. | Breast Cancer | Explicit |
| Myers et al. (2000) | Intention to be tested for prostate cancer risk among African-American men. | 2000 | 1995 | Article in Peer Reviewed Journal | “identify factors associated with intention to be tested for prostate cancer risk among African American men” | Survey | Patients in one health system: 413 African American adult men. Chicago, Illinois. | Prostate Cancer | Implicit |
| Nooruddin et al. (2020) | Why African Americans say “no”: A study of pharmacogenomic research participation. | 2020 | 2018 | Article in Peer Reviewed Journal | Identify reasons African Americans who were eligible cardiovascular pharmacogenomic research declined participation | Qualitative Survey | Patients with Cardiovascular Disease: 82 African American adults who declined enrollment in the parent study on cardiovascular disease pharmacogenomics. Chicago, Illinois and Washington, DC | Cardiovascular Disease Pharmacogenomics | Implicit |
| Ochs-Balcom et al. (2011) | Establishing a community partnership to optimize recruitment of African American pedigrees for a genetic epidemiology study. | 2011 | Not Reported | Article in Peer Reviewed Journal | Obtain feedback on a breast cancer genetic epidemiology study protocol, recruitment plans, materials, and other study features | Focus Groups | Breast Cancer Survivors and Family Members: 9 African American adult women who were breast cancer survivors and 5 African American adult women family members of a survivor. Buffalo, New York | Breast Cancer | Explicit |
| Parikh et al. (2019) | Factors associated with participation by African Americans in a study of the genetics of glaucoma | 2019 | 2016 | Article in Peer Reviewed Journal | Identify factors that influenced enrollment in parent study on genetic risk for glaucoma | Survey | People eligible for parent study on hereditary glaucoma in African Americans: 190 African American adults who enrolled and 117 African American adults who declined participation. Philadelphia, Pennsylvania | Glaucoma | Implicit |
| Powell-Young & Spruill (2013) | Views of Black nurses toward genetic research and testing | 2013 | 2019 | Article in Peer Reviewed Journal | Identify Black nurses' perspectives on genetic research and testing | Survey | Black Nurses: 372 female and 12 male Black nurses attending the National Black Nurse Association | Genetic testing and research in general | Explicit |
| Umeukeje et al. (2019) | You are just now telling us about this? African American perspectives of testing for genetic susceptibility to kidney disease. | 2019 | 2017–8 | Article in Peer Reviewed Journal | Identify views about possible benefits and risks of using APOL1 testing in routine patient care and in kidney transplant | Community Deliberations | General Public: 39 African American adult community members. Jackson, Mississippi; Nashville, Tennessee; and Seattle, Washington | ApoL1 | Explicit |
| Young et al. (2019) | Apolipoprotein L1 testing in African Americans: Involving the community in policy discussions. | 2019 | 2018 | Article in Peer Reviewed Journal | Develop recommendations regarding appropriate use of ApoL1 genetic testing based on current knowledge | National meeting of stakeholders that included break-out and plenary discussions informed by previous formative interviews and community deliberations | Multiple Stakeholders: 13 African American adult community members, 7 scientific advisors, 26 researchers, clinicians, bioethicists, patient advocates, and representatives from professional organizations and federal funding agencies, and 10 members of study team. | ApoL1 | Explicit |
We identified evidence of factors that contributed to positive beliefs about or attitudes toward RTGT and or to negative beliefs about, attitudes toward, or concerns regarding RTGT. We label these “facilitators” and “barriers,” respectively, and acknowledge that many other factors affect participation in genetic testing. Often it is not possible to distinguish barriers and facilitators of RTGT versus genetic testing in general. Some concerns appear unique—e.g., fears of stigmatizing the Black community or seeking benefits for the Black community in particular—but other concerns appear generalizable to all genetic testing programs.
3.1 ∣. Facilitators
As summarized in Table 2, four broad categories of facilitators were identified: personal control, individual benefit, community or population-level benefits, and communication.
TABLE 2.
Facilitators
3.1.1 ∣. Personal control
Numerous studies found that it was important that living individuals have control over whether or not to be tested and how test results are used. (Berrigan et al., 2021; Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019; Mayo-Gamble, 2015; Umeukeje et al., 2019; Young et al., 2019). In the context of APOL1 testing for kidney donation, there was broad support for routine testing of deceased Black potential donors, whereas it was widely held that Black potential living donors should not be tested routinely and instead, individuals should make testing decisions (Berrigan et al., 2021; Umeukeje et al., 2019).
3.1.2 ∣. Individual benefit
Individuals who perceived some personal benefit from testing, whether in the clinical or research setting, were more inclined to view testing more favorably (Gustafson et al., 2007; Halbert, Gandy Jr, et al., 2006; Halbert, Kessler, et al., 2006; Mayo-Gamble et al., 2019; McDonald et al., 2014; Myers et al., 2000). Persons who saw themselves as being at risk for a condition were more favorably inclined toward testing (Gustafson et al., 2007; Mayo-Gamble, 2015; Mayo-Gamble et al., 2018). The perception that information to be gained through testing was meaningful because the results had clear and well-understood significance contributed toward a favorable attituded toward testing (Berrigan et al., 2021; Gustafson et al., 2007; Halbert, Gandy Jr, et al., 2006; Halbert, Kessler, et al., 2006). The potential to use the information to make better healthcare decisions (Berrigan et al., 2021; Gordon et al., 2017, 2018; Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019; Halbert, Gandy Jr, et al., 2006; Halbert, Kessler, et al., 2006; Horowitz et al., 2014; Umeukeje et al., 2019), to motivate oneself to make healthier lifestyle choices (Gordon et al., 2017; Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019; Horowitz et al., 2014, 2017; Kikut et al., 2020; Koraishy et al., 2018; Miller, 2020; Umeukeje et al., 2019), or to motivate physicians to provide better care, e.g., through more careful monitoring, contributed to positive attitudes toward testing (Gordon et al., 2018; Halbert, Gandy Jr, et al., 2006; Halbert, Kessler, et al., 2006; Horowitz et al., 2017; Miller, 2020).
3.1.3 ∣. Population-or community-level benefit
Perceived community or population-level benefits contributed to favorable attitudes toward or functioned as facilitators of RTGT. The potential explanatory power of genetic testing in illuminating existing health disparities (Cox et al., 2007; Halbert, Gandy Jr, et al., 2006; Halbert, Kessler, et al., 2006; Horowitz et al., 2014; Kikut et al., 2020; Powell-Young & Spruill, 2013) and the possibility that detecting genetic differences that contribute to worse health outcomes could counter existing stereotypes that blame Black people for poor health outcomes based on lifestyle (Horowitz et al., 2017) contributed to positive views. Some participants affirmed RTGT as a welcome prioritization of the health of Black people and an opportunity to improve the health of Black people in the future (Horowitz et al., 2017; Kikut et al., 2020; Miller, 2020; Ochs-Balcom et al., 2011; Umeukeje et al., 2019).
3.1.4 ∣. Communication
The final category of factors that contributed to a positive attitude toward RTGT concerned communication. Several studies pointed to the importance of carefully crafted, culturally sensitive “marketing” materials that would assuage fears of discrimination or abuse (Gordon et al., 2017; Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019; Gustafson et al., 2007). Transparency about the science that informs RTGT or other race-based recommendations was noted in one study (Miller, 2020). Multiple studies highlighted the importance of receiving information from trusted and supportive individuals, which could include Black healthcare professionals or community members (Cox et al., 2007; Horowitz et al., 2016, 2017; Kikut et al., 2020; Mayo-Gamble et al., 2019; Myers et al., 2000; Ochs-Balcom et al., 2011). The message or perception that in one's community, the norm is to pursue genetic testing was associated with a positive attitude (Mayo-Gamble et al., 2018). Finally, some studies highlighted the importance of community engagement in planning RTGT research (Horowitz et al., 2016; Young et al., 2019).
3.2 ∣. Barriers
We identified eight categories of factors that were associated with negative views or concerns about RTGT. These are summarized in Table 3.
TABLE 3.
Barriers
3.2.1 ∣. Lack of individual benefit
Some studies found unfavorable attitudes toward RTGT where individuals did not perceive that they would benefit directly from testing or study participation (Halbert et al., 2017; McDonald et al., 2014; Miller, 2020; Nooruddin et al., 2020; Umeukeje et al., 2019) or where research participation is not sufficiently compensated (Nooruddin et al., 2020).
3.2.2 ∣. Burden of testing
Concerns about the time required (Nooruddin et al., 2020; Ochs-Balcom et al., 2011; Parikh et al., 2019), the need to visit a specialist or specific research location (Armstrong et al., 2012; McDonald et al., 2014), or the costs of testing were noted in multiple studies (Bevan et al., 2003; Gordon et al., 2017; Gordon, Amórtegui, et al., 2019; Mayo-Gamble et al., 2019; Miller, 2020; Myers et al., 2000). Having to give blood or having to give what was seen as too much blood also raised concerns (Nooruddin et al., 2020; Ochs-Balcom et al., 2011). Concerns about giving blood also could reflect worries about how the sample will be used and thus could be a trust-related barrier.
3.2.3 ∣. Confidentiality
Numerous publications addressed the possibility that genetic test results might not be kept confidential (Bevan et al., 2003; McDonald et al., 2014; Myers et al., 2000; Ochs-Balcom et al., 2011).
3.2.4 ∣. Harmful impact of test results
Seven types of possible harm associated with test results were identified. Some concerns were broad: possible misuse of information (Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019; Nooruddin et al., 2020), the stigma associated with results (Gordon et al., 2018;Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019), and discrimination because of genotype. (Bevan et al., 2003; Halbert et al., 2017; Halbert, Gandy Jr, et al., 2006; Halbert, Kessler, et al., 2006; Powell-Young & Spruill, 2013; Umeukeje et al., 2019). Other concerns were more specific. These included concerns about insurance discrimination (Armstrong et al., 2012; Bevan et al., 2003; Gordon et al., 2017, 2018; Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019), financial harm (Gordon et al., 2018;Halbert, Gandy Jr, et al., 2006; Halbert, Kessler, et al., 2006; Miller, 2020), and psychological harm (Gordon et al., 2018; Halbert, Gandy Jr, et al., 2006; Halbert, Kessler, et al., 2006; Myers et al., 2000; Umeukeje et al., 2019). Finally, in the context of kidney transplantation, some people were concerned that the results could harm others, such as by limiting access to a living donor kidney transplant (Gordon et al., 2018; Umeukeje et al., 2019).
3.2.5 ∣. Trust
Mistrust of the healthcare system or of scientists was reported in several studies (Armstrong et al., 2012; Gordon et al., 2018; Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019; Kikut et al., 2020; Miller, 2020; Nooruddin et al., 2020; Ochs-Balcom et al., 2011; Umeukeje et al., 2019). A related concern was uncertainty about the reliability of science and scientific results (Halbert, Gandy Jr, et al., 2006; Halbert, Kessler, et al., 2006; Miller, 2020). Two publications included reports of participants explicitly raising concerns about giving a DNA sample (Nooruddin et al., 2020; Parikh et al., 2019). Concerns about giving blood which could involve not only the amount of blood to be drawn but also concerns about what might be done with the blood sample. Several of these concerns might contribute to the fear of being used as a lab rat explicitly identified in one study (Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019).
3.2.6 ∣. Race
Participants in several studies raised concerns about the conflation of race, genetic ancestry, and culture and the resulting lack of clarity regarding precisely who is at increased risk of having particular gene variants (Bevan et al., 2003; Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019; Miller, 2020). Race-specific marketing (Armstrong et al., 2012; McDonald et al., 2014) and racial profiling (Gordon et al., 2017) concerns also were associated with negative views of RTGT. In several studies, participants reported that universal rather than race-based testing was more appropriate (Bevan et al., 2003; Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019; Mayo-Gamble et al., 2019).
3.2.7 ∣. Communication and information needs
The lack of open and clear communication in various contexts emerged as a possible barrier to genetic testing. Secrecy within families and in the broader community where there is little discussion of disease (Mayo-Gamble et al., 2019; Ochs-Balcom et al., 2011) and poor communication by or knowledge on the part of physicians (Mayo-Gamble et al., 2019) were identified as challenges. An overall need for more health education was reported in several studies (Gustafson et al., 2007; Horowitz et al., 2016; Miller, 2020). The lack of knowledge about genetics and research in general (Halbert et al., 2017; Mayo-Gamble et al., 2019; Ochs-Balcom et al., 2011), about what genetic test results might mean for an individual (Gordon et al., 2018;Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019; Horowitz et al., 2016), and about what it means to be at risk (Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019; Horowitz et al., 2016) were barriers to testing. The need for more community education or better physician communication regarding APOL1 and SCD and SCT in particular (Mayo-Gamble et al., 2019; Umeukeje et al., 2019; Young et al., 2019) and greater clarity regarding the connection between African American identity and APOL1 variants (Gordon et al., 2018) were noted.
3.2.8 ∣. Clinicians' concerns
Although we did not search for studies that explored healthcare professionals' or researchers' attitudes toward RTGT, four publications reported concern among clinicians (Horowitz et al., 2014, 2016; Koraishy et al., 2018; Powell-Young & Spruill, 2013). Physicians reported concerns about ordering tests where the results have unknown or unclear significance (Koraishy et al., 2018) and concerns about the costs of testing and the availability of insurance coverage (Koraishy et al., 2018). Some physicians reported discomfort or ethical concerns with using race as a basis for genetic testing (Horowitz et al., 2014; Koraishy et al., 2018). A majority of Black nurses surveyed in one study indicated that they would participate in genetic research for Black people, yet they also reported concerns that genetic test results, in general, could lead to discrimination against minorities (Powell-Young & Spruill, 2013). A more global concern physicians reported was a sense of being ill-prepared to address genetics (Horowitz et al., 2014, 2016). Similarly, the majority of nurses in one study reported that their understanding of genetics was fair or poor (Powell-Young & Spruill, 2013).
4 ∣. DISCUSSION
This review of literature reporting on the attitudes, perspectives, beliefs, or values of Black people regarding RTGT revealed multiple factors that contribute to a positive attitude toward and concerns regarding RTGT. Understanding these considerations is essential to making decisions about whether to use RTGT, to respecting stakeholders, and to improving research, public health, and clinical practices involving RTGT. Some findings may have implications for genetic testing and research in general.
Most publications we reviewed reported the attitudes of lay people. Some important contrasts between the perspectives we found in our review and ideas often found in the research ethics literature, the Common Rule, and IRB practice emerged. We comment on these through this discussion.
Several topics appeared among both the facilitators and barriers to RTGT. Across numerous conditions and contexts, maintaining personal control over access to and use of personal genetic information (Berrigan et al., 2021; Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019; Mayo-Gamble, 2015; Umeukeje et al., 2019; Young et al., 2019), protecting the confidentiality of results (Bevan et al., 2003; McDonald et al., 2014; Myers et al., 2000; Ochs-Balcom et al., 2015), and avoiding possible harms that could follow breaches of confidentiality or possible uses of test results were important (Armstrong et al., 2012; Bevan et al., 2003; Gordon et al., 2017, 2018; Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019; Halbert et al., 2017; Halbert, Gandy Jr, et al., 2006; Halbert, Kessler, et al., 2006; Miller, 2020; Myers et al., 2000; Nooruddin et al., 2020; Powell-Young & Spruill, 2013; Umeukeje et al., 2019). This emphasis points to a possible contrast between some stakeholder views and the Common Rule's broad consent provision and NIH's genomic data sharing policy (“Federal Policy for the Protection of Human Subjects (‘Common Rule’),” 2018; Wheeland, 2014). Some advocates of broad consent and genomic data-sharing appeal to the benefits of reducing costs and barriers to research to advance science and to the expressed willingness of many research participants to provide such consent (Boycott et al., 2017; Chen et al., 2005; Grady et al., 2015; Hansson et al., 2006; Thompson et al., 2014; Wendler, 2006). Our review and other research suggest that some stakeholders, particularly members of minoritized groups, are deeply concerned about the control of biospecimens and personal data (Brown et al., 2016; Garrison et al., 2016; Middleton et al., 2019). Such concerns could hinder participation in research that involves genetic testing. Insofar as there is a commitment to diversifying research population samples, these concerns should be taken seriously (Brown et al., 2016).
The focus on race was both a facilitator and a barrier. Possible perceived benefits of RTGT included explaining health disparities Black people experience and counter-acting the assumption that lifestyle choices explain most health disparities, prioritizing the health interests of Black people, and improving understanding of health disparities (Cox et al., 2007; Halbert, Gandy Jr, et al., 2006; Halbert, Kessler, et al., 2006; Horowitz et al., 2014, 2017; Kikut et al., 2020; Miller, 2020; Ochs-Balcom et al., 2015; Powell-Young & Spruill, 2013; Umeukeje et al., 2019). At the same time, concerns about possible misuses of genetic information and increased discrimination or stigmatization were barriers to RTGT (Armstrong et al., 2012; Bevan et al., 2003; Gordon et al., 2017, 2018; Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019; Halbert, 2006; Halbert et al., 2017; Miller, 2020; Myers et al., 2000; Powell-Young & Spruill, 2013; Umeukeje et al., 2019). Beyond this, many of the concerns were with genetic testing in general rather than RTGT.
An often-mentioned facilitator in studies of individuals undergoing genetic testing, as well as studies examining hypothetical decisions, was the perception that testing would or could result in direct personal benefit, particularly by providing information that could be used to improve health (Berrigan et al., 2021; Gordon et al., 2018; Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019; Gustafson et al., 2007; Halbert, Gandy Jr, et al., 2006; Halbert, Kessler, et al., 2006; Horowitz et al., 2014, 2017; Mayo-Gamble, 2015; Mayo-Gamble et al., 2018, 2019; McDonald et al., 2014; Miller, 2020; Myers et al., 2000; Umeukeje et al., 2019). A corresponding barrier was the perception that testing offered no direct benefit, including the view that testing would not yield useful information (Halbert et al., 2017; Miller, 2020; Nooruddin et al., 2020; Umeukeje et al., 2019). This emphasis on individual benefit based on information obtained through genetic testing speaks to the controversial topic of the return of individual research results and to the significance and reliability of the quality of the information provided any time genetic test results are shared, whether in the research or clinical setting.
Few of the publications we reviewed explicitly addressed the question of whether individuals who participate in genetic research should have access to their individual research results or would choose to obtain their individual research results. In one study, participants reported that lack of access to their personal research results was a reason not to participate (McDonald et al., 2014). In a community-engaged project on APOL1 testing, stakeholders expressed a clear preference or even insistence that individual research results be available to participants (Young et al., 2019). Many publications addressed the return of individual research results indirectly. Expectations or motives for personal or familial benefit from information obtained through RTGT was a facilitator for RTGT (Berrigan et al., 2021; Gordon et al., 2017, 2018; Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019; Gustafson et al., 2007; Halbert, Gandy Jr, et al., 2006; Halbert, Kessler, et al., 2006; Horowitz et al., 2014, 2017; Kikut et al., 2020; Koraishy et al., 2018; Mayo-Gamble et al., 2019; McDonald et al., 2014; Miller, 2020; Myers et al., 2000; Umeukeje et al., 2019). This motivation or expectation suggests a desire for or intention to obtain individual research results. Securing the perceived benefit of obtaining information genetic testing reveals requires that individuals may obtain their results.
The desire for access to individual research results is consistent with previous research on participant preferences and some existing recommendations (Bollinger et al., 2012; Fabsitz et al., 2010; Facio et al., 2011; Facio et al., 2013; Henderson et al., 2008; Hudson & Collins, 2015; Jarvik et al., 2014; Lewis et al., 2019; Lewis et al., 2021; Murphy Bollinger et al., 2014; Murphy et al., 2008; National Academies of Sciences, 2018; Nobile et al., 2013; Scherr et al., 2018; Secretary's Advisory Committee on Human Research Protections (SACHRP), 2016; Streicher et al., 2011; Vears, Minion, Roberts, Cummings, Machirori, Blell, & Murtagh, 2021; Vears, Minion, Roberts, Cummings, Machirori, & Murtagh, 2021; Walker et al., 2014; Wilkins et al., 2019; Wolf et al., 2012; Wolf et al., 2008). Several studies report that many participants express an intention to request their individual research results, including secondary findings (Hartz et al., 2017; Rini et al., 2018; Roche et al., 2019). Despite this, some studies have found that research participants, including those who previously indicated that they would ask for their individual results, often choose not to obtain them when the opportunity arises (Hartz et al., 2017; Roche et al., 2019). Some of our findings point to possible explanations for the gap between stated intention to access results and actual behaviors. Concerns raised about RTGT, notably worries about the harmful impact of results, the limited understanding of genetics and of what genetic test results mean, or the belief that results will not provide useful information, could contribute to the gap (Bevan et al., 2003; Gordon et al., 2018; Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019; Halbert et al., 2017; Halbert, Gandy Jr, et al., 2006; Halbert, Kessler, et al., 2006; Horowitz et al., 2016; Mayo-Gamble et al., 2019; Miller, 2020; Myers et al., 2000; Ochs-Balcom et al., 2011; Powell-Young & Spruill, 2013; Umeukeje et al., 2019). Another possibility is that, in light of the lack of knowledge about genetics and understanding of the implications of genetic risk, we found as barriers to RTGT (Gordon et al., 2018; Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019; Halbert et al., 2017; Horowitz et al., 2016; Mayo-Gamble et al., 2019; Ochs-Balcom et al., 2011), people lack sufficient guidance to make decisions about whether to request their results. The research ethics literature has focused on whether to return any individual research results and, if so, which ones. It has given much less attention to how to help individuals decide whether to obtain their results, such as through the use of decision aids (Vears, Minion, Roberts, Cummings, Machirori, & Murtagh, 2021).
The return of individual research results literature emphasizes the validity and utility of results, especially with respect to clinical significance and actionability, in assessing the significance of results and, thus, whether they should be available to participants (Bredenoord et al., 2011; Fabsitz et al., 2010; Knoppers et al., 2006; National Bioethics Advisory Commission, 1999; Wolf et al., 2012, 2015). Our review included publications that showed that the ability to get clear and meaningful results was a facilitator of RTGT (Berrigan et al., 2021; Gustafson et al., 2007; Halbert, Gandy Jr, et al., 2006; Halbert, Kessler, et al., 2006). However, this does not mean that people would not want at least the option to access other information. While some studies suggest that research participants prioritize this information (Bollinger et al., 2012), other research reveals that participants sometimes value information beyond clinically actionable results or see themselves as having a right to any genetic information that others have about them (Beskow et al., 2009; Bollinger et al., 2012; Cadigan et al., 2011; Clift et al., 2015; Graves et al., 2015; Halverson et al., 2016; Jarvik et al., 2014; Kaufman et al., 2012; Middleton et al., 2019; Ormond et al., 2010; Sanderson et al., 2013; Shalowitz & Miller, 2005; Wilkins et al., 2019). A broader understanding of the results participants value could lead to tension between what researchers are inclined to share and what participants want or expect. Differences among participants with respect to the information they would find valuable or would want to access suggest that allowing participants to choose the information they receive might be important (Canedo et al., 2022; Sabatello et al., 2020; Sayeed et al., 2021; Wilkins et al., 2019). We found support for participant choice regarding the amount of information shared when returning individual research results (Horowitz et al., 2017).
In addition to deciding which results to make available, researchers and clinicians must decide how they will return results. We found preferences expressed for receiving information in writing and from a trusted source with the option of speaking with a genetic counselor to discuss results further (Horowitz et al., 2016). The desire for detailed written reports has been documented in other genetic testing research (Murphy Bollinger et al., 2014).
Returning individual research results involves not merely the genetic test results themselves but the contextual information that individuals need or want along with the results. Some publications revealed a desire or need for background information about genetics (Horowitz et al., 2017), information about the health conditions that were the subject of genetic testing (Horowitz et al., 2016; Mayo-Gamble et al., 2019; Umeukeje et al., 2019), and guidance on using results and talking with other doctors about results (Horowitz et al., 2016). Fulfilling these preferences for making individual research results available, enabling participants to choose what information, if any, they want, providing personalized information regarding results, and offering broader health education increases burden on investigators and could require additional staff. Returning results of unknown significance raises additional challenges (Hoffman-Andrews, 2017; Medendorp et al., 2019; Zhong et al., 2020). The costs of meeting these expectations have implications for research funding.
Many stakeholders in our review held that securing personal benefit from or appropriate compensation for research participation was important (Berrigan et al., 2021; Gordon et al., 2017, 2018; Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019; Gustafson et al., 2007; Halbert et al., 2017; Halbert, Gandy Jr, et al., 2006; Halbert, Kessler, et al., 2006; Horowitz et al., 2014, 2017; Kikut et al., 2020; Koraishy et al., 2018; Mayo-Gamble et al., 2019; McDonald et al., 2014; Miller, 2020; Myers et al., 2000; Nooruddin et al., 2020; Umeukeje et al., 2019). This is consistent with other research and results of stakeholder deliberations (BeLue et al., 2006; Corbie-Smith et al., 1999; Daugherty et al., 1995; Edwards et al., 1998; Facio et al., 2011; George et al., 2014; Henderson et al., 2008; Herring et al., 2004; Lewis et al., 2019, 2021; Locock & Smith, 2011; Nobile et al., 2013; Owens et al., 2013; Rogers et al., 2018; Scherr et al., 2018; Townsend & Cox, 2013; Walker et al., 2014; Wilkins et al., 2019). The potential benefits participants described in our review and in some other research on motives for participation in genetic research were framed broadly, often in terms of knowledge to be gained through testing (Berrigan et al., 2021; Gordon et al., 2017, 2018; Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019; Gustafson et al., 2007; Halbert, Gandy Jr, et al., 2006; Halbert, Kessler, et al., 2006; Horowitz et al., 2014, 2017; Kikut et al., 2020; Koraishy et al., 2018; Miller, 2020; Umeukeje et al., 2019). They also included benefits of knowledge to be gained for their families or for Black or African American people in the future (Cox et al., 2007; Halbert, Gandy Jr, et al., 2006; Halbert, Kessler, et al., 2006; Horowitz et al., 2014, 2017; Kikut et al., 2020; Miller, 2020; Ochs-Balcom et al., 2011; Powell-Young & Spruill, 2013; Umeukeje et al., 2019). The importance of research benefitting Black or African American people specifically has been expressed elsewhere as potentially motivating research participation (BeLue et al., 2006; Corbie-Smith et al., 1999; George et al., 2014; Herring et al., 2004; Iltis et al., 2021; Rogers et al., 2018; Williams et al., 2021). The expectation that research results will not benefit Black or African American people is a barrier to research participation in general (Corbie-Smith et al., 1999; Scharff et al., 2010). Potential benefit to a specific population or community is a particular type of aspirational benefit, that is, “benefit to society and to future patients, which arises from the results of the study” (King, 2000, p. 333). Communicating potential benefits to identifiable communities or populations as part of the informed consent process and in recruitment, materials could be important in diversifying research participant populations.
Much of the research ethics literature has focused on improving informed consent to avoid over-promising benefit and to reduce the therapeutic misconception (Dresser, 2001; King, 2000; King et al., 2005). Sometimes IRBs restrict communication about potential benefits in consent documents and recruitment materials out of concern to avoid unduly influencing potential participants (Klitzman, 2013). Thus, it might be difficult to secure approval to describe potential benefits this way. While avoiding unwarranted promises and hype are important, failure to communicate clearly about potential benefits, including potential benefits to Black or African American people, can be a barrier to participation.
Although we did not seek to explore the attitudes of clinicians or researchers toward RTGT, four publications addressed these. Only two of the four provided information about healthcare professional participants' race; one was a study of Black nurses, and one was a study that included primary care physicians, 13% of whom were African American (Horowitz et al., 2014; Powell-Young & Spruill, 2013). Several concerns professionals expressed aligned with patient, research participant, and community member findings. In a study of Black nurses' attitudes toward genetic testing, many reported concerns that genetic test results could be used to discriminate against minorities. Other stakeholders expressed similar concerns about discrimination and stigmatization (Armstrong et al., 2012; Bevan et al., 2003; Gordon et al., 2017, 2018; Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019; Halbert et al., 2017; Halbert, Gandy Jr, et al., 2006; Halbert, Kessler, et al., 2006; Powell-Young & Spruill, 2013; Umeukeje et al., 2019).
In one study, physicians expressed concern about the unknown or unclear significance of test results (Koraishy et al., 2018). This aligns with barriers other stakeholders identified related to a lack of knowledge about what genetic test results mean for individuals and what it means for a person to be at risk (Gordon et al., 2018; Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019; Horowitz et al., 2016). Some physicians expressed that they felt ill-prepared to address genetics (Horowitz et al., 2014, 2016). Poor communication or perceived lack of knowledge among physicians, as well as a need for more education and communication about genetics, emerged as a barrier in several publications. The majority of nurses in one study also reported only a fair or poor understanding of genetics (Powell-Young & Spruill, 2013). This suggests that they, too, would feel ill-prepared to discuss genetic testing or test results with patients and that patients might perceive them as lacking sufficient knowledge.
Multiple stakeholders represented in our review, including patients and living kidney donors, shared physicians' concerns about the costs of testing and the availability of insurance coverage. (Bevan et al., 2003; Gordon et al., 2017; Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019; Koraishy et al., 2018; Mayo-Gamble et al., 2019; Miller, 2020; Myers et al., 2000).
In two publications, physicians reported that using race as a basis for genetic testing made them uncomfortable or raised ethical concerns (Horowitz et al., 2014; Koraishy et al., 2018). We do not know whether this discomfort is specific to RTGT or whether these same physicians also are uncomfortable using algorithms or other decision tools that rely on race in medicine. Some evidence suggests that clinicians see the use of race in medical decision-making both positively and negatively and have varying levels of comfort with collecting and using race information (Bonham et al., 2017; Callier et al., 2019). This discomfort aligns with other stakeholders' views that reliance on race is a barrier to RTGT (Bevan et al., 2003; Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019; Miller, 2020). Nevertheless, in some publications we reviewed, the focus on race emerged as a facilitator because it was seen as turning much-needed attention to the health needs of Black people (Cox et al., 2007; Halbert, Gandy Jr, et al., 2006; Halbert, Kessler, et al., 2006; Horowitz et al., 2014, 2017; Kikut et al., 2020; Miller, 2020; Ochs-Balcom et al., 2011; Powell-Young & Spruill, 2013; Umeukeje et al., 2019).
We were surprised that, despite the controversial history of RTGT for SCT and SCD involving Black people in the US and the broader concerns associated with race-based medicine, little research has been reported on the attitudes, perspectives, and beliefs of the people directly affected by these practices. Despite an extensive search with no date limit, we identified only 27 publications that addressed this issue. Even within those, the race-targeted aspect of testing typically received limited attention. Possible explanations for the paucity of evidence on this matter beyond lack of investigator interest include difficulty obtaining funding to study these questions, lack of journal interest in publishing such material, and negative reviewer feedback on submissions that appear to criticize medicine (Bauer, 2004; Healy, 2008; Krieger et al., 2021; Mervis, 2019; Taffe & Gilpin, 2021; Vaughn, 2019). It is also possible that researchers seeking to ask questions about RTGT might have difficulty obtaining IRB approval out of concern that such questions might be seen as offensive or cause psychological harm. This would be consistent with concerns others have expressed regarding IRB restrictions on behavioral and social sciences research (Gunsalus et al., 2007; Irvine, 2012; Schneider, 2015; White, 2007). Highly informative research on attitudes, perspectives, or beliefs about RTGT could be conducted within the context of studies or in clinical settings featuring RTGT. Yet, it is possible that clinicians or researchers involved in those practices might not allow for such research for fear of scaring patients or research participants or fostering distrust. A previous review on willingness to participate in genetic variation research similarly found that explicit attention to race was uncommon. In that review, only one of fourteen papers that involved genetic research exploring variation among racial groups and health explicitly mentioned this (Sterling et al., 2006).
The facilitators and barriers identified in this review can inform future research or clinical practice involving genetic testing. They suggest a number of questions that researchers or clinicians engaged in any genetic testing, as well as those considering RTGT, should ask prior to pursuing their efforts. These questions, summarized in Table 4, could be supplemented by others that have been recommended for researchers considering using race as a variable (Ioannidis et al., 2021). Our findings also contribute to understanding the kind of information that people undergo genetic testing in clinical and research settings want available and how they want to receive information, including genetic test results. These insights can inform practice not only regarding RTGT but all genetic testing in clinical and research settings.
TABLE 4.
Questions to Inform RTGT Decisions
| Questions to consider prior to any research or clinical use of genetic testing |
Relevant Facilitators | Relevant Barriers |
|---|---|---|
| How will testing decisions be made? Who will be involved? What information will be provided to inform such decisions and by whom? | Personal control; Communication | Individual Benefit; Communication and Information Needs |
| How will individual test results be shared and by whom? What information will be provided? | Communication | Communication and Information Needs; Clinicians' Concerns |
| Who will decide how results are used? How will that decision be made? | Personal Control | Harm; Trust |
| Who will have access to results and how will that be determined? | Personal Control | Confidentiality; Harm; Trust; Clinicians' Concerns |
| What information will be collected to evaluate practices? How will it be assessed and by whom? | Individual Benefit; Population or Community Benefit | Harm; Trust |
| Questions to consider prior to adopting RTGT | Relevant Facilitators | Relevant Barriers |
| Why are we considering RTGT? How will we justify and explain it? | Communication | Trust; Communication and Information Needs |
| What alternatives to RTGT exist? What advantages and disadvantages do they pose relative to RTGT? Will targeting by race explicitly undermine participation? | Individual Benefit; Population or Community Benefit | Harm; Trust; Race; Communication and Information Needs; Clinicians' Concerns |
| What do we mean by the term “race”? | Race | |
| Who counts as a member of the racial group targeted and why? How are mixed race people classified? | Race | |
| How will members of the group be identified and why? | Race |
The facilitators and barriers to RTGT identified in this review can contribute to important ongoing discussions regarding the appropriateness of RTGT. Current practice and research involving APOL1 genetic testing remain race-targeted, as do some prenatal screening practices. Some genetic testing that was race-based now is universally recommended. In our review, some publications found a preference for universal testing, and targeting people for testing by race was a barrier to RTGT (Bevan et al., 2003; Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019; Mayo-Gamble et al., 2019). The biomedical literature also includes recommendations for universal genetic screening or testing rather than race- or ethnicity-based testing (Ross, 2012).
While universal screening might be appropriate in some contexts, it raises some concerns. These include the possibility that it is not cost-effective or medically useful (Christensen et al., 2015; Long & Ganz, 2015; Reed-Weston et al., 2020). For example, because the APOL1 variants associated with a greater risk of kidney disease are both tightly connected to African ancestry, and an individual needs two copies of the riskier variants to experience increased risk, screening people of diverse ancestry will identify few individuals missed by current screening while increasing costs and time burdens immensely. Some have also expressed the view that given that we now have more approved genetic tests than genes in the human body, such policies play into the hands of the genetic testing industry, effectively guaranteeing large markets with little health return on investment (Phillips et al., 2018). In light of these concerns, it is possible that variables other than race or ethnicity should be studied as possible indicators for selective genetic testing. While identifying those variables is beyond the scope of this review, candidate variables might be found in the literature that addresses replacing race with variables that more accurately measure the relevant information (Chakravarti & Little, 2003; Ioannidis et al., 2021).
4.1. Limitations
RTGT is an example of race-based care. We did not search the literature for perspectives, attitudes, beliefs, and views about all race-based care. Genetics often is treated separately, and different attitudes toward undergoing genetic testing versus other types of medical testing are well-documented (Bayertz, 1998; Green & Botkin, 2003; Murray, 1997; Witt & Witt, 2016). Thus, we determined that the most useful, directly applicable information would be gleaned by focusing on RTGT than on race-based care in general. The review did not look for healthcare professionals' attitudes and beliefs regarding RTGT, although some of this information was reported in studies reviewed here. A separate review of healthcare professionals' attitudes toward and beliefs about race-based care in general and RTGT, in particular, would be informative. The majority of the publications we reviewed specified that the entire sample was Black or African American people. However, a few publications included a mixed-race sample, which means that some of the views represented are not necessarily attributable to African–American or Black people. Although the publications addressed a wide range of conditions, perspectives regarding RTGT for conditions other than those reflected in this review could differ. The small sample sizes and sampling methods of most included studies do not make them generalizable. The quantity and quality of data availability makes it impossible to do a statistical meta-analysis of findings, or to track changing trends across time.
5 ∣. CONCLUSION
Despite evidence of substantial genetic variation within racial groups, the unreliability of racial designations as substitutes for geographical ancestry, and the inconsistent definitions and applications of race categories, numerous practices in biomedical research and clinical medicine rely on race (Duello et al., 2021). These include using racial categories in clinical algorithms (Vyas et al., 2020), evaluating deceased donor kidneys (Organ Procurement and Transplantation Network (OPTN), 2020), some prenatal screening recommendations (American College of Obstetricians and Gynecologists, 2017), evaluating LKDs (Gordon, Amórtegui, et al., 2019; Gordon, Amórtegui, et al., 2019; Gordon, Wicklund, et al., 2019; McIntosh et al., 2020), and characterizing research participants (Duello et al., 2021).
The perspectives of this systematic review uncovered the possibility that stakeholders might see some RTGT as positive, promising, or appropriate while simultaneously having concerns about the practice. This suggests a more complex response moving forward than simply rejecting all use of race in genetic research or clinical practice or continuing as-is with poorly defined criteria for when testing is offered or recommended.
Decisions about who should be offered or encouraged to undergo genetic testing, who should make those decisions, as well as decisions about how to use test results, should be clearly articulated. Information to facilitate informed decision-making will be important. Information about when third-party payers will cover the costs of genetic testing also should be readily available.
These decisions can involve multiple stakeholder interests, including patients, family members, clinicians, researchers, and third-party payers. Understanding their perspectives and information needs can improve research and practice. Learning more about healthcare professionals' and researchers' attitudes toward RTGT, as well as how IRB members and others involved in research oversight, could further inform these decisions.
Black participants in the studies we reviewed did not unambiguously support or oppose RTGT, but rather identified a series of potential benefits and concerns. However, for clinical and research programs that continue to offer or pursue RTGT, this review offers some clear lessons on how to proceed. Offer benefits, if only by sharing information and test results. Be transparent. Take steps to mitigate the risks of stigma from genetic testing, and engage stakeholders as you seek solutions to challenges. RTGT may someday be eliminated from use, but as long as it is used, clinicians and researchers must strive to use it in the most respectful, beneficial, and just ways possible.
These findings regarding attitudes, perspectives, or beliefs about RTGT might have implications for other forms of race-based medicine.
Supplementary Material
What is known about this topic
Previous systematic reviews have addressed questions related to race and genetic testing among different racial and ethnic groups and mechanisms to increase the participation of Black people in genetic research. These do not specifically address race-targeted genetic testing, which is genetic testing that targets people for testing based on race or ethnicity because of presumed differences among groups.
What this paper adds to the topic
This is the first systematic review we are aware of to examine attitudes, perspectives, and beliefs of Black people toward race-targeted genetic testing (RTGT). We identify facilitators or factors that contributed to a positive attitude toward RTGT and barriers or factors that led to concerns regarding RTGT.
ACKNOWLEDGMENTS
We are grateful to Dr. Bryan Sisk for his invaluable guidance in developing, conducting, and reporting this review. Heidi Walsh, MPH, CHES, was instrumental in reference management and the preparation of tables and figures. Wake Forest University's Z. Smith Reynolds Library provided access to numerous publications via interlibrary loan. We thank the anonymous reviewers for their helpful suggestions, which have strengthened this manuscript.
FUNDING INFORMATION
This project was funded by the US National Institute of Minority Health and Health Disparities (1R01MD014161, DuBois, PI). The effort of DuBois was also supported by the US National Center for Advancing Translational Sciences (UL1TR002345, Powderly, PI).
Footnotes
CONFLICT OF INTEREST
The authors have no conflicts of interest to declare.
ETHICAL APPROVAL
This study did not involve human or animal subjects.
SUPPORTING INFORMATION
Additional supporting information can be found online in the Supporting Information section at the end of this article.
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