Qualitative Methodologies in Genetic Counseling Research

This insightful article, published in the Journal of Genetic Counseling in 2022 and authored by Tasha Wainstein, Alison M. Elliott, and Jehannine C. Austin, addresses the evolving role and significance of qualitative research within the genetic counseling profession. It stems from the understanding that all genetic counselors engage with research in various capacities—whether by conducting studies, participating in them, or applying research findings to their clinical practice. Furthermore, a research output is a mandatory requirement for accreditation in all genetic counseling training programs. Despite this pervasive engagement, a content analysis of the Journal of Genetic Counseling from 2011 to 2017 revealed that “research methodology” was the least common topic, appearing in only 1.9% of articles.

However, the landscape is shifting, with a statistically significant increase in the number of qualitative articles published in the journal, indicating a growing recognition of their value. More than a third (34.4%) of the publications reviewed used qualitative methods for data analysis, a proportion similar to those using quantitative methods (30.6%). The authors suggest that genetic counselors are inherently drawn to qualitative research due to their transferable skills from training and clinical practice, such as discussing complex and sensitive topics, expert communication, and information synthesis, which are highly beneficial for qualitative inquiry, for example, during interviews or focus groups. Yet, these skills alone are insufficient; theoretical grounding and rigor are also essential for producing high-quality, clinically useful qualitative research.

The authors highlight a key challenge: much of the qualitative research in genetic counseling is conducted through a “learning through doing” approach that may lack sufficient theoretical grounding. This can lead to research outputs that fail to effectively inform clinical practice, which should be a hallmark of excellent clinical qualitative research. Moreover, as genetic counseling is situated within the health sciences, a field traditionally favoring quantitative approaches, there is often a need to justify qualitative methodologies, especially when the findings are intended to guide clinical practice.

To address these critical issues, the paper articulates a comprehensive three-fold purpose:

1. Pedagogical Guidance: The primary aim is to compile resources and current best practices for trainees and genetic counselors interested in conducting qualitative research. Rather than offering a rigid, prescriptive approach, the article seeks to introduce the vast spectrum of available qualitative options and emphasize the necessity for thorough and iterative consideration when selecting a method for a study. For those not actively conducting research, it provides information to aid in interpreting findings and evaluating the merit of qualitative articles relevant to clinical practice.
2. Empowerment for High-Quality Research: The article endeavors to equip genetic counselors with foundational knowledge and tools to produce qualitative research of the highest quality. It acknowledges that qualitative work often faces criticisms regarding its suitability and validity (e.g., being exploratory, not hypothesis-driven, or having small sample sizes) due to its divergence from the dominant quantitative paradigm in health sciences. Therefore, the paper aims to empower researchers to advocate for, rationalize, and defend their paradigmatic decisions.
3. Advancement of Genetic Counseling as an Academic Discipline: Ultimately, the authors aspire to convince readers of the need for a strong qualitative research foundation if genetic counseling is to evolve into a primary academic discipline. They argue that the unique principles, ethics, values, and practices of genetic counseling make the establishment of a discipline-specific qualitative research framework not merely warranted but essential. Such a framework could offer a systematic and thoughtful approach, particularly benefiting novice researchers, and contributing to the maturation of genetic counseling as an academic praxis. The paper also suggests that the paradigms, methodologies, and strategies outlined could be valuable in addressing research priorities identified by the National Society of Genetic Counselors (NSGC) Research Task Force.

Situating Qualitative Research: A Definition

The article defines qualitative research using Creswell and Poth’s (2018) description, which highlights several key features. Qualitative research begins with assumptions and interpretive/theoretical frameworks that guide the investigation of problems concerning the meaning individuals or groups ascribe to social or human issues. This involves using an emerging qualitative approach to inquiry, collecting data in natural settings sensitive to the participants, and employing data analysis that is both inductive and deductive to establish patterns of themes. The final report typically incorporates participants’ voices, the researcher’s reflexivity, a complex description and interpretation of the problem, and its contribution to literature or a call for change.

The Building Blocks of Qualitative Research: Determining a Paradigm

A crucial starting point for any research project is defining the paradigm within which the problem will be addressed. Paradigms are defined by a set of assumptions researchers make about what is valuable to research (axiology), what can be known about reality (ontology), how reality can be known (epistemology), and how knowledge can be acquired (methodology). The authors briefly describe five predominant paradigms relevant to genetic counseling research:

• Positivism/Post-positivism: Values generalizable research, where the researcher’s values/biases are controlled to maintain a “value-free” and objective science. It assumes a single, objective reality that can be observed through scientific measurement (positivism) or known imperfectly due to measurement error (post-positivism). Knowledge is acquired through valid, reliable, and precise measurement tools, and scientific, deductive methods are used to test theories or hypotheses, often with standardized data collection tools. An example cited is a post-positivist study using semi-structured interviews and a modified reflexive thematic analysis to explore UK genetic counselors’ perspectives on psychiatric genetic counseling.
• Constructivism/Interpretivism: Values research that aims to understand and describe human nature, honoring individual values. It posits that there are multiple subjective realities, socially constructed by and between individuals, making reality and truth context-dependent. Knowledge is subjective, formed at an individual level through experiences and assigned meanings. Research aims to understand individuals’ experiences by conducting studies in participants’ natural settings, using broad research questions and inductive analysis. An example is a constructivist approach taken to understand how individual genetic counselors chart their career paths.
• Critical Theory/Post-modernism (including feminism, critical race theory, critical disability theory, queer theory): Values research that challenges deficit thinking and empowers people towards social change, prioritizing the rights of the researched. It suggests multiple subjective realities influenced by power relations in society, shaped by social, political, cultural, economic, ethnic, and gender values. Knowledge is subjective but created and negotiated between individuals and within groups. Research starts with assumptions of power and identity struggles, documenting them, and calling for action and change. An example is a study examining social issues related to racial-ethnic differences in patient-centered care through a critical race theory interpretive framework.
• Pragmatism: Values finding solutions through empirical (both qualitative and quantitative) inquiry over debates about the nature of truth and reality. It acknowledges an objective reality, but one that is only encountered through human experience and is context-grounded; reality is “what works”. Knowledge is known through using many research tools that reflect both deductive and inductive evidence. The research process involves both quantitative and qualitative approaches to data collection and analysis (methodological pluralism), using the most appropriate methods for the research question. A study assessing moral distress among genetic counselors using a quantitative measure and reflexive thematic analysis of open-ended survey questions is provided as an example.
• Indigenous Paradigms: Values ethical and spiritual bases incorporating relationships between people, nature, and the cosmos. It recognizes multiple (including non-human) sources of knowledge that are interdependent and contextual. Intuition, spirit, experience, thought, and text count as pathways to knowledge. This paradigm requires Indigenous interpretation and cultural grounding throughout, utilizing story, metaphor, and symbolism to make visible Indigenous ideas and thinking. An example is seeking opinions of Indigenous Canadians on their under-representation in clinical sequencing databases using a community-based, co-design approach. The authors emphasize that Indigenous ways of knowing are holistic, non-fragmented, non-human-centric belief systems, brought to life by animate language structures and contextualized within place and land-based knowing, upholding virtues of interdependence.

The authors suggest that borrowing paradigms from other disciplines (like philosophy, sociology, education, nursing, and psychology) has been common, but these may be less practical when the end goal is implementation and application in genetic counseling. They advocate for the urgent need for the genetic counseling profession to establish its own research paradigms, tools, and techniques informed by its unique disciplinary perspectives, training, and conceptual orientations, much like nursing has done. The reciprocal engagement model, which reflects genetic counseling values and practices, is cited as a successful example of adapting and melding frameworks.

Methods and Analysis: Turning Philosophy into Practicalities

Distinguishing between methodology (the general research strategy) and methods (precise data gathering and analysis techniques) is crucial. The selection of methods should be guided by clarity regarding the research question and study intention. The article briefly describes several common methodologies and methods:

• Grounded Theory (GT): Aims to derive new theories from real-world data through iterative collection and analysis, particularly useful when little existing theory explains a phenomenon. It involves theoretical sampling, open coding, constant comparison, axial coding, and selective coding to establish a core category and theory, reaching theoretical saturation when no new concepts emerge. GT has been used to advance theory in genetic counseling practice.
• Phenomenology: Explores personal interpretations of life events. Some types require “bracketing” (researcher separating their perceptions) to mitigate bias. Interpretive Phenomenological Analysis (IPA), a derivative, emphasizes how individuals make sense of their experiences, recognizing the researcher’s role in interpretation. IPA involves in-depth case analysis followed by cross-case analysis for shared understandings within a homogenous group. It has been successfully applied to genetic counseling topics, such as exploring the role of Islam in lived experiences of patients with Long QT syndrome.
• Narrative Inquiry: Defined as an approach that honors lived experience as a source of knowledge and understanding, based on the premise that stories are a natural form of human communication and meaning-making. It seeks to understand narrative truths rather than objective or historical truths, focusing on how individuals make meaning within their context. An example is exploring parental experiences of being re-contacted with new genetic results after a child’s death.
• Ethnography: An anthropological approach defined by a researcher’s prolonged immersion within a community to understand its culture, norms, values, and social environments. It relies heavily on participant-observation, with the ethnographer taking an insider (emic) or outsider (etic) perspective. It is powerful for understanding healthcare experiences, behaviors, and culture, such as a study by a cancer genetic counselor exploring the meaning of a cancer diagnosis through volunteer experiences.
• Thematic Analysis: A popular approach for generating patterns of meaning within a dataset, accessible for novice researchers. Similarities in data are grouped to determine themes that make sense of context and derive meaning, useful for eliciting information about human experiences. Reflexive Thematic Analysis (Braun & Clarke, 2021a, 2021b) is a specific type that foregrounds researcher subjectivity and involves six sequential and recursive phases: familiarization, coding, generating initial themes, reviewing themes, refining, and writing up. It has been used to explore the impact of parenting a child with Down syndrome.
• Content Analysis: Commonly used for evaluating open-ended questions in quantitative surveys, it evaluates patterns within data by considering the frequencies with which a topic or idea is discussed. This positivist approach often reports tabulated data and statistics, best implemented with highly specific research questions. It is criticized for its lack of nuanced interpretation due to less attention given to context.
• Interpretive Description: Focuses on practical implications within a discipline-specific context, acknowledging broad patterns across populations while recognizing endless variations. It emphasizes the constructed nature of human experience and is advantageous for generating new knowledge about lived experiences related to health phenomena to guide clinical decisions. An example is a study with the transgender community to provide recommendations on pedigree nomenclature and genetic counseling for transgender individuals. It is non-prescriptive about knowledge development steps, allowing integration with other theoretical frameworks.

Beyond traditional methods, the article also mentions other data gathering techniques like questionnaires, observation, case studies, participatory action research, arts-based data gathering, digital data gathering, and multi-modal data gathering. It also suggests considering the appropriate and ethical use of electronic health records and patient letters for a discipline-specific research paradigm.

Principles and Components of Data Analysis

The core of qualitative data analysis and interpretation involves coding and then linking codes to theories, themes, or knowledge.

• Theory, Theoretical, and Conceptual Frameworks: Incorporating relevant theory enhances data analysis. Theory can serve as a lens to evaluate findings, or data analysis can lead to new theory development. It can also scaffold research design and data collection. While genetic counseling-specific theories are not abundant, borrowing from other fields, like using Social Cognitive Theory from psychology to analyze unmet informational needs of Sickle cell carriers, can be advantageous. Theoretical and conceptual frameworks help explain relationships between concepts, providing a crucial link between raw data and practically applicable information.
• Coding: An essential component of many qualitative data analysis methods, coding is the systematic process of creating and assigning labels to categorize data for grouping and analysis.
  • Types of Coding: Deductive coding applies pre-established codes (from research questions, literature, or a codebook) to the dataset, allowing for rapid identification of relevant data but potentially excluding unforeseen insights. Inductive coding creates codes directly from the data without prior determination, useful for novel topics and enhancing depth and richness. These approaches can be combined.
  • Stages of Coding: Coding typically occurs in two stages: an initial or primary coding round for a general overview, leading to broad, descriptive codes (e.g., in vivo codes using direct quotes, process coding for actions, values coding for worldviews). Latent coding delves deeper into underlying meanings and assumptions. The second stage, line-by-line coding, applies more thorough and systematic codes to relevant segments, refining broad codes into discrete, detailed ones. Second-level, axial, or hierarchical coding is more analytical, drawing on theory and showing how codes conceptually fit together.
  • Codebooks, Field Notes, and Analytic Memos: A codebook is essential for consistent code application across transcripts. Observations, themes, trends, and patterns arising during coding and team discussions should be recorded in memos or notes to inform later analysis, which is an iterative process.
  • Computer-Assisted Qualitative Data Analysis Software (CAQDAS): CAQDAS tools (e.g., for planning, management, keyword searching, coding, data organization, output generation) can assist in managing extensive data in an organized and transparent manner, especially with multiple data types or large teams. However, they do not automate coding; the researcher still reads, immerses, codes, and analyzes to generate meaning. The decision to use CAQDAS should be guided by ontological and epistemological standpoints, as well as pragmatic factors.

Additional Steps Towards Nuanced, Interpretive Stories

The original purpose of qualitative research was theory generation for hypothesis testing, not direct clinical application. However, recent discourse advocates for gaining deeply nuanced and analytical knowledge from qualitative work to directly inform clinical practice, acknowledging that such data address different but complementary questions and values. For this, basic theming is often insufficient, requiring more advanced analysis strategies.

• Visual Displays: When advanced strategies are not feasible, visual representations of extensive text (e.g., participant quotations interspersed with descriptions) can provide cogent findings.
• Discourse Analysis: Goes beyond analyzing words to examine how things are said, providing insight into meaning within social and cultural contexts. Often applied to real-life talk (e.g., genetic counseling consultations) using detailed transcription to capture non-verbal interactions, intonation, and pauses. Theme-oriented discourse analysis (TODA) is recognized for shedding light on negotiated meaning in professional encounters, such as how genetics professionals elicit children’s understanding of information.
• Metaphor Analysis: An extension of discourse analysis, metaphors naturally convey vivid imagery of experiences. Analyzing organically arising metaphors in interviews can offer insights into cognitive thinking and sensemaking, especially when participants cannot consciously articulate them. Metaphors are important in genetic counseling for evaluating impact and effective communication strategies.
• Arts-Based/Creative Methods: Involve creatively gathered materials (stories, poetry, art) or the analysis of data through techniques like found poetry or fictionalization. These methods can develop new knowledge, demonstrate complexity, and enhance analysis. They can also be applied to reporting research through blogs, social media, podcasts, or performances, opening new avenues for sharing knowledge with diverse audiences and making complex information accessible.

Ensuring the Quality of Qualitative Research

Demonstrating quality in qualitative research is challenging due to significant variation in quality hallmarks across different paradigms. Critics sometimes unfairly dismiss qualitative methods as unscientific by attempting to apply quantitative standards (validity, reliability, generalizability, objectivity) to constructivist or critical paradigms, leading to misaligned analyses.

• Saturation: A concept originating from grounded theory, typically operationalized as the point where no new information, codes, or ideas are elicited from the data. While widely used, saturation has been heavily criticized because continuous data collection and analysis can always yield new theoretical insights, making true “saturation” impossible. Authors rarely provide evidence of how saturation was reached, suggesting it often serves as a pragmatic justification for sample size.
• Alternatives to Saturation:
  • Theoretical Sufficiency (Dey, 1999): A more appropriate way to define a researcher’s endpoint, establishing when there is sufficient depth of understanding to build a theory, implying that new insights might still be possible, and the analysis is subjective and partial.
  • Information Power (Malterud et al., 2016): Assesses five factors impacting a sample’s power: study aim, sample specificity, use of established theory, quality of dialogue, and analysis strategy. Greater information power across these dimensions means a smaller required sample size.
• Reporting Guidelines and Checklists: Efforts to standardize reporting and enhance rigor, validity, and transparency have led to guidelines like the Consolidated Criteria for Reporting Qualitative Studies (COREQ) and the Standards for Reporting Qualitative Research (SRQR). While these checklists can guide comprehensive reporting and elevate qualitative research’s recognition, a recent review of COREQ raised doubts about its trustworthiness and its inclusion of contested ideas like saturation. The authors caution against a “one-size-fits-all” approach to quality criteria and stress the need to consider appropriate theoretical and methodological contexts and values. Ultimately, ensuring quality requires transparency about steps taken to determine sample size, validity, rigor, and credibility, rather than relying on vaguely applied concepts or checklists as comprehensive markers.

The Researcher as Instrument: Positionality and Reflexivity

In paradigms acknowledging subjectivity (constructivist, critical, pragmatic, Indigenous), researchers must consider their roles, responsibilities, and impacts on every aspect of the research. This means recognizing that findings are subjective interpretations from the researchers’ perspectives, rather than objective truths. This requires engaging with positionality through reflexive practices throughout the research.

• Positionality: Refers to the embodied relationship between the researcher’s socially constructed identity and existing systems of oppression/privilege, influencing biases, values, identities, assumptions, and experiences within the research context, especially power dynamics. Acknowledging positionality is an ongoing, fluid process and is important for assessing the quality of others’ research as well.
• Self-Reflexivity: The process by which researchers become aware of their positionalities and how they influence their understanding and analysis. Reflexivity can also extend to other contextual factors (e.g., physical location, organizational culture). Through reflexivity, researchers acknowledge (and disclose, if comfortable) how their positionalities influence the research, rather than attempting to remove or deny their effects, which would only be appropriate in a positivist paradigm claiming objective reality and neutrality. The authors suggest that heeding positionality and reflexivity is a moral imperative for conducting ethically sound research aligned with equity and inclusion.
• Establishing Positionality: Genetic counselors may find this familiar due to its overlap with the self-awareness required in clinical practice. An initial step involves determining positionalities within a social identity framework, for example, using a social identity mapping exercise to explicitly articulate aspects like gender, class, sexual orientation, age, ability, and ethnicity. This helps researchers examine how these aspects impact their research conception, execution, interpretation, and conveyance, and informs strategies for reducing power imbalances.
• Genetic Counselor Positionality: A unique aspect for genetic counselors as researchers is the ethical obligation to educate research participants about their conditions when the relationship is purely as a researcher, not a clinician. While direct dual relationships (clinician and researcher) should be avoided, genetic counselors may feel conflicted in providing emotional support or information during interviews, as the primary purpose of a qualitative interview is information gathering. Alternative strategies include “remedial-pedagogical interviewing” (providing emotional support and education when needed) or first eliciting participants’ stories and then offering pathways to appropriate clinical services in a post-interview discussion. The decision may be personal, but further collective consideration guided by the reciprocal engagement model and feminist ethics is suggested.
• Positionality Statements: The article strongly encourages the inclusion of positionality statements in published manuscripts and oral presentations, similar to conflict of interest statements. These provide transparency regarding how a researcher’s identity relates to the topic and relationships with those being researched, helping readers avoid false inferences. The authors provide their own positionality statements as vignettes to demonstrate their utility, emphasizing relevant aspects of their identities while omitting others.

Conclusion

The article concludes by reiterating Diane Beeson’s 1997 statement that “qualitative research offers the greatest hope that the vast potential of genetic advances will be developed in the best interests of individuals and families… and that these technologies will be applied humanely and sensitively”. While acknowledging the alignment between genetic counselors’ skills and qualitative methods, the authors believe that qualitative research methodologies in genetic counseling scholarship need additional attention in education, training, and implementation. They emphasize that rather than debating the merits of different paradigms or methods, the crucial aspect is making considered, consistent, coherent, and transparent decisions about the research approach to ensure methodological integrity.

The paper aims to be a starting point for those interested in qualitative research, offering resources and best practices. It also seeks to challenge prevailing narratives in the profession, such as the idea that “qualitative research should only be used, or only has value in their ability to generate hypotheses for future quantitative research” or that it is “often insufficient to inform clinical practice”. Finally, by highlighting the unique aspects of genetic counseling, the authors give weight to the idea of developing a discipline-specific philosophy of research, thereby establishing genetic counseling as a robust academic pursuit alongside its clinical profession.

Reference for the article:

Wainstein, T., Elliott, A. M., & Austin, J. C. (2023). Considerations for the use of qualitative methodologies in genetic counseling research. Journal of Genetic Counseling, 32(2), 300–314. https://doi.org/10.1002/jgc4.1644