Tuesday, December 12, 2023
ABGC is honored to play a role in the transformative work done by genetic counselors by awarding yearly research grants to support their work. This article provides updates from a few of our recent grant recipients and the opportunities for further research they’ve discovered.
Research Project: Defining Macro-Level ELSI Knowledge and Competency in Genetic Counseling Practice, Research and Training
Name: Shana Merrill, MS, LCGC
Shana Merrill, MS, LCGC, developed the idea for this research due to her interest in gaining a better understanding of systems-based aspects of genetic counseling practice and pragmatic conceptualizations of ELSI issues in genomic medicine. She is interested in better understanding what the profession defines as its core identity and functions as it evolves. More specifically, the idea for this research arose from considering the alignment between genetic counselors’ Code of Ethics, Practice-Based Competencies and the expanded roles that genetic counselors may fulfill in the future, all within the context of applicable systems-based practice conceptualizations and ethical, social and legal frameworks that she was exposed to as part of her PhD studies in social welfare.
ELSI research and education in genetics have tended to focus on individual patient care-related issues and applications of general bioethics principles to specific cases. However, there is now widespread recognition in the field of the need for a diverse workforce to meet the needs of a diverse patient population, as well as the need to better understand systemic societal issues that impact the quality of health care provided and the profession’s advocacy goals. This research seeks to eventually broaden conceptualizations of ELSI issues in genetics to include more modern and nuanced understandings of current issues.
The goal of Shana’s research is to translate these findings into education and training resources for genetic counselors, as well as apply the findings to the ongoing conversation about the scope of practice and core expertise of genetic counselors. This research fills the gap of exploratory, qualitative research in this field, as it is lacking. This topic is best studied qualitatively at this time, because, as participants often stated while conducting this research, genetics ELSI issues are complex and inextricably interwoven throughout all aspects of genetic counseling training, practice and professional identity in a wide variety of ways.
Shana’s team conducted focus groups with stakeholders including genetic counseling program directors, experienced genetic counselors and recent graduates of genetic counseling programs. These focus groups elicited perspectives on critical contemporary ELSI concerns in clinical practice, genetic counseling role and identity relative to these issues and perspectives in interprofessional theoretical and practice grounding. They are currently analyzing verbatim transcripts of focus groups and conducting in-depth individual interviews with an expanded population of stakeholders, including academic researchers of ELSI topics in genetics, physicians with expertise in genetics ELSI and additional genetic counselors from a variety of backgrounds. The team envisions completing data collection and analysis by the end of 2023.
This research was designed to explore stakeholder perceptions of professional role identification and the necessary expertise to engage with genetics ELSI issues. It was designed to explore the extent to which genetics ELSI issues are experienced variably within large systems and intuitions (spaces conceptually known as macro and meso levels), in addition to at the point of care (conceptually known as micro level). One goal of this research was to obtain data to help identify and adapt relevant and appropriate conceptual frameworks more specifically to genetic counseling contexts. In part, this research intends to address the question of whether genetic counseling training and competencies should expand to include additional consideration of the macro and meso-level dimensions of patient care and advocacy, or whether interprofessional partnerships and alliances will best serve in expanding the scope of ELSI endeavors in genomic medicine. Once the analysis and Shana’s dissertation are complete, the findings will be prepared for consideration for publication in the Journal of Genetic Counseling.
One aspect of conducting this research that surprised the research team is how often focus group participants articulated their enjoyment and intellectual gain from participating and hearing additional perspectives on pragmatic ELSI issues from others practicing in different geographic locations and/or job settings. Experienced genetic counselors felt as if they were lacking opportunities to have ongoing in-depth conversations about these topics. Another aspect the team has found surprising from this research is the extent to which very few genetic counseling stakeholders articulated that advocacy should be part of the core professional identity of all genetic counselors, while simultaneously articulating their recognition of advocacy’s inclusion in the genetic counseling Code of Ethics.
The findings from this research project could be utilized to inform the design of a thorough and targeted quantitative research project to capture a larger sample of opinions from additional stakeholders. Future research could also evaluate current ELSI education across genetic counseling programs, test training tools and educational approaches developed from this data, and/or determine the best mechanism for diffusing those resources to genetic counselors. Shana is grateful for the ABGC funding mechanism that supported this research. It will form the foundation of ongoing efforts to create robust evidence-based conceptualizations of ELSI issues that can hopefully inform the practice of modern clinical genomic counseling.
Research Project: Exploration of the Need for Additional Credentialing for Laboratory-based Genetic Counselors
Name: Lisa Schwartz, EdD, MS, CGC
Dr. Lisa Schwartz decided to conduct this research after she recognized increasing opportunities for genetic counselors to work in the laboratory setting and wondered if genetic counselors needed or wanted additional training to serve in these roles. Her department offers graduate-level courses in laboratory science — including techniques and management — and she wondered if there was interest among genetic counselors in this setting to pursue a post-master’s certificate in laboratory science.
To conduct the research, she assembled a team of fellow genetic counselors working in laboratory settings and education to serve on the advisory board and used mixed methods to gather data. She first interviewed 20 genetic counselors regarding their participation and roles in the industry or in laboratory settings. Then, she created a quantitative study based on these findings that was sent to all ABGC Diplomates. Read more details about the study’s goals in an ABGC article from 2022.
The study found that, overall, genetic counselors in laboratory settings believed ABGC practice-based competencies (PBCs) were transferable to their roles, and their master’s programs prepared them well for the work. Most did not wish to have an additional requirement or credential — such as a post-master’s certificate — to serve in a lab role, as they were concerned this could limit opportunities to move into these roles. Most other skills genetic counselors needed they developed through on-the-job training, although they did note a need for more exposure to the diverse roles available in the laboratory setting and would like to see those explained in their programs, including how PBCs can translate into these roles.
This research adds to the growing body of literature regarding the rapidly evolving roles for genetic counselors in laboratory and non-direct patient care settings. The findings aligned with others who suggest that additional didactic coursework and fieldwork related to the lab setting should be incorporated into master’s in genetic counseling programs, and that considerations should be made to allow for cases collected in these settings to be used towards eligibility for ABGC certification.
The qualitative phase of the study was presented at the NSGC 41st Annual Conference in Nashville and has been published in the Journal of Genetic Counseling, while the quantitative phase was presented as a poster at the NSGC 41st Annual Conference in Nashville A manuscript focused on the quantitative survey has been submitted for consideration by the Journal of Genetic Counseling and is currently being revised before resubmission.
During the qualitative analysis of interviews, Dr. Schwartz and her team discovered a recurrent theme regarding professional identity. Multiple participants referred to themselves as not providing “true” genetic counseling or feeling unable to refer to themselves as “genetic counselors.” This finding was unexpected, and Dr. Schwartz and her advisory board as a result proposed a new study of professional identity among genetic counselors: An Exploration of Genetic Counselors’ Professional Identity, which is being funded through the 2022 Jane Engelberg Memorial Fellowship within NSGC. Currently, Dr. Schwartz is conducting a scoping review of the genetic counseling literature regarding professional identity as well as interviews with 50 Genetic counselors from diverse backgrounds, settings and roles.
Research Project: The Patient Experience and Psychological Response to Reflexive BRCA Tumor Genetic Testing
Name: Jeanna McCuaig, MSc, PhD, CGC
Recently, the province of Ontario, Canada implemented reflex BRCA1/2 tumor testing for all newly diagnosed high-grade serous ovarian cancer (HGSOC), without prior counseling or patient consent. This was announced prior to the availability of any patient outcome data and without consultation with the wider genetics community and was a significant practice change in the care of high-grade serous ovarian cancer patients.
Considering the high proportion of germline BRCA1/2 gene mutations that are identified in tumor tissue (compared to somatic), and the relatively high level of public awareness of the BRCA1/2 genes (thank you, Angelina Jolie), Dr. McCuaig and her team thought it was important to gather patient outcome measures to ensure this model of care did not negatively impact patients. Additionally, the study was completed in the hope that results would guide additional research in this area and inform the implementation of reflex tumor genetic testing in other provinces and countries and for other disease sites.
To accomplish these goals, Dr. McCuaig conducted a patient survey study aimed at evaluating the experience of newly diagnosed high-grade serious ovarian cancer patients who received reflex BRCA1/2 tumor genetic testing as part of their cancer care. The research was conducted as part of Dr. McCuaig’s PhD thesis at the University of Toronto and was completed at the University Health Network, with the addition of Sunnybrook Health Sciences Centre to increase recruitment. Read more details about the study’s goals in an ABGC article from 2022.
Broadly, the results of this research highlight the importance of researchers, including genetic counselors, to collect patient-reported outcome measures when changing models of genetic service delivery. Such research is critical to ensuring that as genetic counselors increase access to timely genetic testing, they are also able to identify and provide necessary resources and supports to the patients they serve.
In a first analysis (PMID 35418215), Dr. McCuaig and her team found that ovarian cancer patients do not have a good understanding of tumor genetic testing. Among study participants, less than half could accurately recall their tumor test results. The mean score on hereditary knowledge questions was ~67% correct (out of 100%). Additionally, a new diagnosis of ovarian cancer is more distressing than receiving genetic test results. The average level of cancer-related distress in the study population of newly diagnosed ovarian cancer patients was relatively high; over half of the study cohort had at least a moderate level of cancer-related distress. Average measures of genetic testing-related distress were also higher than previously reported in the literature. Also, while cancer-related distress was associated with higher levels of genetic testing-related distress, higher levels of dispositional optimism seemed to provide a protective effect.
Despite having high levels of patient satisfaction with having reflex BRCA1/2 tumor testing completed as part of their cancer care, the high levels of distress, low knowledge scores and poor recall of tumor results indicated that patients may benefit from additional support and educational resources.
In a second analysis, (PMID 36478486), Dr. McCuaig and team found that genetic testing-related distress following receipt of tumor genetic test results significantly decreased following receipt of germline genetic test results and post-test counseling. This result highlights the benefit of post-test counseling in streamlined genetic testing models of care where feasible. Unfortunately, the study population was too small (n=52) to complete meaningful analysis on the impact of receiving discordant tumor and germline results. As an example, Dr. McCuaig explained, “I suspect that the experience of someone receiving a negative BRCA1/2 tumor result and positive germline panel result (i.e., not eligible for targeted therapy but has a hereditary risk), and that of someone receiving a positive BRCA1/2 tumor result and negative germline panel result (i.e., eligible for targeted therapy and has no hereditary cancer risk) would be very different.” Because of this, Dr. McCuaig believes additional research on these type subgroups would help to identify which patients may benefit most from additional support and post-test genetic counseling.
Dr. McCuaig and team captured open-ended responses (unpublished) which provided insight into the varied experiences of patients. Some were able to clearly articulate the impact of tumor testing on medical management and the requirement of additional testing to clarify germline risks, while others were unaware that any test was completed.
Additionally, their team learned that higher dispositional optimism was associated with lower genetic testing related distress — an interesting discovery. According to Dr. McCuaig, it is surprising that this measure (Life Orientation Test – Revised) is not used more widely in the genetics literature.
According to Dr. McCuaig, this study could be replicated at another institution; however, she believes additional qualitative work to gather an in-depth understanding of patient experiences related to reflex BRCA tumor testing may be of benefit.
As precision medicine continues to advance and more patient outcome research studies examine the impact of tumor genetic testing, there is a need to develop validated tools that are specific to the experience of tumor genetic test results. Many studies, including Dr. McCuaig’s, use the Multidimensional Impact of Cancer Risk Assessment (MICRA) questionnaire to evaluate psychosocial outcomes; however, the measures on this questionnaire are more aligned to germline testing and do not accurately capture the nuances of tumor testing.
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