A qualitative design was chosen for the current study because it is particularly well suited for studying phenomena regarding which little is known. Over the past two decades, the number of disorders for which genetic testing is available has increased from approximately ten to over 2000. Using genetic testing in order to discover cardiac channelopathies is even more recent. Given these rapid changes in medical care, relatively little is known about patients' subjective experiences and the psychological impact of the growing field of personalized genomic medicine. Given this lack of information, a hypothesis-generating, grounded theory research design was used. Grounding the data in the actual words of the participants accurately and evocatively reflects the psychological experiences of patients with cardiogenetic conditions.
Participants & Recruitment
The sample population included 50 participants representing 32 families recruited via three methods. Table 1 presents the participants' demographic data. All of the participants had experienced their own cardiac event or had a family member who had experienced a cardiac event or had died suddenly. The Institutional Review Board of the Albert Einstein College of Medicine of Yeshiva University reviewed and approved the design of the study.
Sample 1 included slightly more than half of the total study participants (n = 27). These patients and family members were recruited from a cardiogenetics clinic associated with the Albert Einstein College of Medicine/Montefiore Medical Center located in the Bronx in New York City (NY, USA). They were being evaluated and treated for cardiogenetic conditions. The interdisciplinary treatment team included a pediatric and an adult cardiologist, two clinical geneticists, postdoctoral fellows in cardiology and genetics, a nurse practitioner, a genetic counselor, an ethicist and three psychologists.
The psychologists introduced the study to some sample 1 participants when they were present at the clinic for medical appointments and reached out to others through letters and follow up telephone calls. All patients were assured that if they declined to participate, their clinical care would not be affected. If patients or family members agreed to participate, they were interviewed, either while at the clinic for a scheduled medical appointment or at an alternative agreed-upon time. A graduate student who attended the cardiogenetics clinic also volunteered to be interviewed and is included with sample 1.
In order to expand the sample, the research team contacted two advocacy organizations. Sample 2 participants were recruited through the Sudden Arrhythmia Death Syndromes Foundation (SADS), an organization for families of children and young adults who are genetically predisposed to sudden death due to heart rhythm abnormalities. Sample 3 participants were recruited through the Sudden Unexplained Death in Childhood Program (SUDC), an organization for families who had experienced the death of a child over 1 year of age of due to unexplained causes. Liaisons at each organization informed their members about the study, either through newsletters or by speaking directly to families. If the families agreed to participate, the liaisons provided the research team with their contact information.
The three samples contained both similarities and differences. In all of the samples, each family contained at least one individual who had experienced their own cardiac event or had a family member who had died suddenly. In all sample 1 and sample 2 families, at least one person had undergone genetic testing. In sample 3, although many of the children's symptoms fit the criteria for cardiogenetic conditions, physicians and medical examiners had recommended genetic testing in only two of the seven families. Most of these families were told that their children had died from unknown causes.
In the current study, including all three subgroups increased the variation in the data. For example, including participants from sample 2 gave voice to the experiences of participants from multiple geographical areas within the USA and from various medical contexts beyond a large, urban medical center. Sample 3 increased the number of families who had experienced the sudden death of a child due to unknown causes, providing information about specific bereavement trajectories. Moreover, because the participants from samples 2 and 3 were recruited from advocacy organizations, data emerged regarding the importance of social support for many families. Finally, just over half of the participants from sample 1 (n = 15) were Latino or of African descent, representing a relatively large proportion of these traditionally under-represented groups. Thus, aggregating the data increased the variation of the total sample, enhancing the probability that emergent patterns would be representative of diverse experiences of patients with cardiogenetic conditions.
Before each interview or focus group, participants signed a consent form and completed a demographic questionnaire. Consent forms were provided in both English and Spanish, and were discussed, either in person or on the telephone, with each participant. Seven focus groups were conducted; one for the sample 1 participants, three for the sample 2 participants and three for the sample 3 participants. Each focus group included individuals representing either two or more families. Because participants in all three samples lived in widely separated communities, it was difficult to arrange the focus groups. Thus, all other data collection involved individual interviews or interviews with multiple individuals from the same family.
The interviews and focus groups ranged from 1 to 2 h in length and were conducted in person for sample 1 and sample 3 participants. Sample 2 interviews were conducted by telephone because these individuals lived outside of the New York tri-state area. These participants were mailed a copy of the consent form at the time of recruitment. The form was then discussed with them at the beginning of the telephone call. Copies of the consent forms and demographic questionnaires were mailed to the researchers after completion of the interview or focus group.
The researchers began with the following general, open-ended question: "Tell me the story of your [or your family's] experience with a cardiogenetic condition [or sudden death]." Specific probes were included in order to ask about attitudes towards genetic testing and sharing genetic information with family members. The research team audiorecorded all of the focus groups and interviews and then transcribed the audiotapes. The transcriptions served as the data for this study. The transcripts were stored on a password-protected computer located in the principal investigator's office. The research team accessed the data from this computer.
Each of the three psychology research team members (LB Silverstein, N Hidayatallah and M Stolerman) independently coded and analyzed each transcript based on the systematic approach to coding and analysis developed by Auerbach and Silverstein. As suggested by Rubin and Rubin, the research team tried to utilize a procedure that was transparent (i.e., another investigator could check what had been done), communicable (i.e., the categories made sense to other investigators) and coherent (i.e., the categories were internally consistent while reflecting individual differences and inconsistencies in the culture). In order to achieve these aims, the research team incorporated multiple participants at each stage of the data analysis process.
The psychology research team members independently identified relevant text, defined as text that was pertinent to the research question. The research team then met together to organize these text segments into a list of repeating ideas that were expressed by multiple participants. Coding at the repeating ideas level continued throughout data collection. When no new repeating ideas emerged in the interviews, the researchers determined that data saturation had been reached. Saturation was reached after 50 participants and no more participants were recruited into the study. The researchers then grouped the repeating ideas into the more abstract level of themes that represented general concepts implicit in the repeating ideas. When consensus was reached within the research team, the data were then presented to the study's interdisciplinary team for discussion. Once this team reached a consensus, the entire interdisciplinary team met with the study's advisory board, which included medical, legal and educational professionals working in the fields of genetic testing, cardiogenetic conditions and public health. The research team then further refined the data in response to the feedback that emerged in this discussion.
Personalized Medicine. 2014;11(7):631-640. © 2014 Future Medicine Ltd.