Sickle cell carriers' unmet information needs: Beyond knowing trait status

2.1 Design

We conducted a descriptive, qualitative study that involved focus groups composed of a purposive sample of 25 individuals with SCT in Tennessee. All protocols and procedures were approved by the Institutional Review Board of Meharry Medical College (Protocol #16-06-559). Prior to data collection, a community engagement (CE) studio was conducted to gain input on focus group questions and recruitment from sickle cell community members (i.e., individuals with SCT, individuals with SCD, and family members). A CE studio is a structured way to promote meaningful engagement of the community in research by encouraging feedback using a facilitator (Joosten et al., 2015). Sickle cell community members offered input on the study design, including the inclusion criteria, focus group questions, and recruitment strategies. Feedback on focus group questions included question comprehension and question content to ensure the researcher would obtain the necessary information to answer the research question. Feedback on recruitment materials included using pictures to fit the target demographic. Focus group questions and recruitment materials were updated as a result of this feedback. The questions were incorporated into a focus group moderator's guide that included an introduction, ground rules, main questions, and probes.

2.2 Study participants and procedures

We conducted a series of focus groups (N = 5) among 25 African Americans with SCT ages 18–65. (Note: The age criterion was modified from an original 18–35 after community input). Participants were recruited through a community-based organization, the Sickle Cell Foundation of Tennessee, and flyers posted at community locales such as health centers and churches. Sickle cell trait status was confirmed via self-report. An eligibility screening tool was developed and utilized to ensure participants met the study requirements. Questions included: (a) Do you know whether you have SCT?; and (b) How were you informed of your positive trait status? After obtaining informed consent from each participant, the “ground rules” were explained (e.g., confidentiality, allowing each member to respond to every question and the permissibility of cross-discussion).

Participants were asked to complete a short, self-administered questionnaire prior to conducting the focus group. The questionnaire included basic demographic questions along with SCT-related information on the following: (a) child's sickle cell status (SCT or SCD); (b) future reproductive decisions; and (c) method of learning SCT status. Then, focus groups were conducted by a member of the research team who had training in qualitative research methods. Using the detailed moderator guide, participants were asked about their knowledge of SCT, methods for finding information about SCT, impact of SCT on daily living activities, and interactions with healthcare providers. (See facilitator guide at https://healthbehavior.psy.vanderbilt.edu/mayo-gamble/MayoGambleFacilitatorGuide.pdf). Each focus group session lasted approximately 2 hours and each participant received $25 after the session. Focus group discussions were audio-recorded and professionally transcribed for data analysis.

2.3 Analysis

Qualitative data coding and analysis were managed by the Vanderbilt University Qualitative Research Core, led by a PhD-level psychologist. Data coding and analysis were conducted by following the consolidated criteria for reporting qualitative research guidelines (Tong, Sainsbury, & Craig, 2007), an evidence-based qualitative methodology. Preliminary analysis of focus groups began after the first two groups were completed, and consistent with established qualitative research methods. Additional focus groups were then conducted until thematic saturation was achieved. A hierarchical coding system was developed based on study questions and preliminary review of the transcripts. Experienced qualitative coders first established reliability in using the coding system, then independently coded each transcript. Coding of each transcript was compared, and any discrepancies were resolved to create a single coded transcript. Each statement was treated as a separate quote and could be assigned up to five different codes. Transcripts were combined and sorted by code. Analysis consisted of interpreting the coded quotes and identifying higher-order themes using an iterative, inductive-deductive approach.

Data analysis was performed on the sorted, coded quotes. Then, individual quotes within each coding category were reviewed. An analyst kept notes and began to identify higher-order themes and connections between categories. Analysis alternated between induction and deduction. Inductively, we relied on the Social Cognitive Theory (Bandura, 1989,2001), a Biopsychosocial framework (Engel, 1977,1992), and clinical knowledge and experience working with Social Cognitive Theory. Deductively, specific quotes were used to fill in the details. Finally, selective coding was conducted to identify key areas of information needs among adults with the Social Cognitive Theory. The final analytic product was a conceptual framework that organized the unmet information needs of individuals with Social Cognitive Theory. All authors reviewed the final themes and reached consensus that they accurately reflected the data. Descriptive statistics were used to describe the demographic and SCT-related characteristics of participants.

3.1 Characteristics of participants

Table 1 presents the characteristics of focus group participants. Of the 25 focus group participants, 22 were female and three were male. Most participants were aged 36–45, had some college education or an undergraduate degree, and were employed full-time. Table 2 illustrates SCT-related characteristics. Most participants had at least one child with SCT or SCD, did not plan to have additional children, and were informed of their carrier status by a parent.

3.2 Qualitative findings

This goal of this study was to elicit perspectives of information needed and recommendations for communicating this information expressed by individuals with SCT. Four major themes were identified: (a) SCT and SCD education; (b) information sources; (c) improved communication about SCT and SCD; and (d) increased screening strategies. Table 3 outlines the major themes, subthemes, specific categories, and representative quotes. Themes were grouped into two areas of unmet information needs: access to information and enhanced communication. Access to information included three major themes: SCT and SCD Education, Information Source, and Increased Screening Strategies. Enhanced communication had one main theme which was Improved Communication about SCT and SCD. Figure 1 illustrates the four themes representing unmet information needs as expressed adult sickle cell carriers. Each of the main themes is discussed in detail below.

4.1 Practice recommendations

Discussions about SCT within personal and healthcare settings rarely occur after identification of trait status. Participants indicated several methods of learning their SCT status (e.g., parents, healthcare provider, lab results in the mail). Unfortunately, these methods were either unaccompanied by additional information on SCT or left participants too frightened to follow-up with a provider or genetic counselor to learn about SCT implications. Thus, a need exists to move beyond screening for the purpose of identifying sickle cell carriers. We must determine more effective strategies to communicate SCT status and ensure those identified as sickle cell carriers fully understand the implications of their carrier status.

For many carriers, including those in the present study, there was confusion on the inheritance pattern of SCD and the number of children they could potentially have with SCD. Specifically, participants understood SCD genetic risk as the potential for one child of every four to have SCD (Ex. “I already have one child with SCD so the next one shouldn't.”). Subsequently, this demonstrates a need for more patient-friendly education that offers lay language on: (a) future reproductive implications; and (b) risk complications in the individual with SCT or for their child with SCD. These findings also suggest a need for more effective strategies to improve patient-provider communication surrounding SCT to improve the ability to engage in an informed decision-making process. Particularly, there is a need to improve information on genetic risk. For example, it was apparent that when information on the genetic risk for SCD was received, carriers did not accurately understand these risks. Therefore, implementing strategies such as the “teach-back” method may be helpful to confirm that this information has been accurately received (Nutbeam et al., 2017; Porter et al., 2014). This method is shown to be effective in genetic education (Porter et al., 2014; Tluczek et al., 2011). Teach-back techniques involve asking participants to use their own words to illustrate their understanding of material discussed (Kripilani, Bengtzen, Henderson, & Jacobsen, 2008). Coupled with a comprehensive understanding of sickle cell carrier information needs, this strategy could be employed to promote informed and shared decision-making.

Communicating genetic risk information is not a traditional expectation for primary care providers. However, as access to genetic information becomes increasingly available, clinicians of all specialties will need to be well versed in the nuances of this communication. Participants in this study had attempted to discuss SCT with their healthcare providers. They indicated that providers place an emphasis on the benign nature of SCT, as indicated by statements such as “They said you've got a trait, and it's nothing to be worried about.” These discussions left participants feeling that their concerns were not validated and that their questions were not sufficiently answered. However, findings from this study also indicate that participants did not expect their healthcare providers to be equipped to answer all questions on SCT. Yet, there was an expectation that providers would listen to their concerns and direct them to reputable resources if needed. Participants suggested genetic counselors and SCD local or national organizations as reputable resources for SCT and SCD information. Since individuals with SCT identified genetic counselors as an acceptable source for SCT information, primary care providers should continue to refer carriers for genetic counseling. These suggestions are also applicable for other inherited recessive genes in which communicating genetic risk information is problematic (e.g., cystic fibrosis and Tay-Sachs disease).

While participants expressed challenges communicating about SCT within medical settings, the onus is not only on providers. Participants acknowledged that when opportunities for discussions of SCT are initiated by a healthcare provider, they often refrain from having these discussions or neglect to disclose their SCT status. These findings suggest that strategies should be in place to encourage or facilitate communication about SCT between patients and their providers. Similarly, participants indicated that as African Americans, discussions about their health status with family members or friends do not occur. One participant acknowledged that when they informed their partner of their SCT status, there was little to no discussion on the reproductive implications. This suggests that overall, sickle cell carriers are in need of education on how to have conversations about the SCT status. Facilitation of communication may also be an area for genetic counselors to intervene. During genetic counseling sessions, individuals and/or couples with SCT could benefit from education on strategies on communicating reproductive implications to their partner.

4.2 Research implications

Much of the current research on sickle cell carriers focuses on increasing knowledge of SCT, increasing knowledge of SCD, and providing reproductive counseling (Creary et al., 2016; Housten et al., 2016; Ulph, Cullinan, Qureshi, & Kai, 2014,2015). While these are areas of great importance for SCT, studies are beginning to highlight the issue of intergenerational communication. The first point of communication on SCT and SCD typically occurs between the health professional and the parent. Ultimately, this information has the greatest significance for the child. Many participants in this study had received information on SCT from their parents. Yet, by the time their parents informed them of their trait status, the parents were unable to articulate key components of information conveyed to them by providers during newborn screening. In addition, participants who were either beyond reproductive age or had no plans to have additional children acknowledged the need to understand the reproductive and health implications of SCT to better communicate with their children, family members, and healthcare providers. Thus, research is needed to assist families in negotiating further communication on SCT and SCD.

Studies on the association between health literacy and SCT genetic knowledge are limited (Creary et al., 2016). Further research is warranted to provide sickle cell carriers with written informational support that meets their health literacy needs. Participants in this study indicated that the written documents they received from providers were inadequate. Studies have shown that primary care providers have SCT and SCD brochures and other informational resources readily available but do not remember to offer them to patients and parents of patients SCT (Bradford et al., 2012; Coulson, Buchanan, & Aubeeluck, 2007). Additionally, studies have shown that patients prefer high-quality information and may seek highly technical information; yet the standard brochures providers distribute very little technical information (Coulson et al., 2007). Identifying patient preferences for information material type, content, and literacy levels not only could aid providers in filling gaps in SCT and SCD knowledge, but also could facilitate communication on SCT within families.

4.3 Study limitations

This qualitative study employed focus groups. The sample of focus group participants could be skewed toward participants who find it easier to talk about their carrier status. This was also a highly educated population that may not be necessarily representative of the general population. However, the similarities between some of our core themes and those found in other studies permit confidence in the validity of our data and analysis of the data. Next, while results are not necessarily generalizable outside of the sample population, we believe our results are transferable to other genetic contexts. Finally, the sample included older participants whose views on the reproductive implications of SCT differ from those within reproductive age. Despite the limitations of the study, we believe the strengths of this study outweigh the limitations and provide a foundation for future research. This research addressed important gaps in the literature on miscommunication about SCT and information needs to support informed decision-making.

Human studies and informed consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all participants for being included in the study.

Animal studies

No animal studies were carried out by the authors for this article.