Awareness of the genetic counseling (GC) profession may influence access to genetic services, yet awareness among the U.S. population is unknown. A survey of U.S. adults was conducted using age‐ and ...sex‐based quotas. Participants were asked if they had heard of the GC profession and to describe what genetic counselors (GCs) do. After reading a brief description of what GCs do, participants were asked the likelihood they would request to see a genetic counselor if they were concerned about a genetic condition. We used descriptive statistics to characterize the population, logistic regression to determine factors related to awareness of the GC profession, and ordinary least squares regression to identify which factors correlated with likelihood of seeking GC services. Thematic analysis was used to code open‐ended responses. Among the final sample of 543, the majority were White individuals (79.7%) with an average age of 46.5 and median income between $60,000 and $69,999. Although 20% indicated they had heard of the GC profession, further analysis of the qualitative follow‐up question suggested only 13.4% understood the role of GCs (CI 10.6%–16.3%). Factors positively and significantly correlated with knowledge of the GC profession included identifying as White or female and having higher educational attainment or higher science knowledge after controlling for income, age, and political views. Approximately 45% of respondents indicated they would likely or very likely seek GC if concerned about a genetic condition. Biological sex, age, religious affiliation, science knowledge, and awareness of the GC profession were significantly correlated with likelihood of seeking GC services while controlling for race, income, educational attainment, and political views. Curiosity/interest, the perception of benefits, and trust in GCs were all major themes that emerged to explain reasons for seeking an appointment with GCs. Lack of awareness, lack of perceived benefit, and lack of trust in GCs or greater trust in other healthcare providers were reasons for not wanting a GC appointment. Despite the 50‐year existence of the GC profession, awareness remains low and negative attitudes exist.
Following disclosure of pathogenic/likely pathogenic (P/LP) variants in hereditary cancer genes, patients face cancer risk management (CRM) decisions. Through this mixed-methods study, we ...investigated CRM decisions among females with P/LP variants in PALB2, CHEK2, and ATM to understand why some patients follow National Comprehensive Cancer Network (NCCN) guidelines while others do not.
Survey and interview data were cross-analyzed using a three-stage approach. Identified factors were used to conduct coincidence analysis (CNA) and differentiate between combinations of factors that result in following or not following guidelines.
Of the 13 participants who underwent guideline inconsistent prophylactic surgery, 12 fit one of three unique patterns: 1) cancer-related anxiety in the absence of trust in care; or 2) provider recommending surgery inconsistent with NCCN guidelines; or 3) surgery occurring before genetic testing. Two unique patterns were found among 18 of 20 participants who followed guidelines: 1) anxiety along with trust in care; or 2) lack of anxiety and no prophylactic surgery prior to testing.
Healthcare provider recommendations and trust in care may influence whether individuals receive care that is congruent with risk levels conferred by specific genes. Interventions are needed to improve provider knowledge, patient trust in non-surgical care, and patient anxiety.
Implementation of multifaceted interventions typically involves many diverse elements working together in interrelated ways, including intervention components, implementation strategies, and features ...of local context. Given this real-world complexity, implementation researchers may be interested in a new mathematical, cross-case method called Coincidence Analysis (CNA) that has been designed explicitly to support causal inference, answer research questions about combinations of conditions that are minimally necessary or sufficient for an outcome, and identify the possible presence of multiple causal paths to an outcome. CNA can be applied as a standalone method or in conjunction with other approaches and can reveal new empirical findings related to implementation that might otherwise have gone undetected.
We applied CNA to a publicly available dataset from Sweden with county-level data on human papillomavirus (HPV) vaccination campaigns and vaccination uptake in 2012 and 2014 and then compared CNA results to the published regression findings.
The original regression analysis found vaccination uptake was positively associated only with the availability of vaccines in schools. CNA produced different findings and uncovered an additional solution path: high vaccination rates were achieved by either (1) offering the vaccine in all schools or (2) a combination of offering the vaccine in some schools and media coverage.
CNA offers a new comparative approach for researchers seeking to understand how implementation conditions work together and link to outcomes.
Standardized patients and/or role‐playing are commonly used for practicing genetic counseling (GC) skills. Use of digital simulation, incorporating gamification elements, would require fewer ...resources to sustain than standardized patients. This manuscript reports steps taken and the lessons learned from creating a digital “Choose your own adventure” simulation in which students select preferred dialog for a genetic counselor who is seeing an adult patient to discuss genetic testing for the known pathogenic variant that caused familial adenomatous polyposis (FAP) in their father. The case has three endings, one of which is attained by selecting options that are mostly consistent with motivational interviewing counseling techniques. We conducted a preliminary evaluation of our beta version among nine GC students and one educator using a survey to assess acceptability and appropriateness as well as to elicit open‐ended feedback. All participants agreed or strongly agreed with statements indicating the case was acceptable, appropriate, and fun. Users particularly appreciated the immediate feedback given throughout the case simulation. Many users wanted more options to select from and listed various other recommendations, including several which would require substantial resources to implement.
Mental illnesses are common and highly heritable. Patients and their families want and benefit from receiving psychiatric genetic counseling (pGC). Though the pGC workforce is among the smallest of ...genetic counseling (GC) specialties, genetic counselors (GCs) want to practice in this area. A major barrier to the expansion of the pGC workforce is limited availability of advertised positions, but it remains unclear why this is the case. We used a qualitative approach to explore drivers for and barriers to the creation of GC positions (including pGC) at large centralized genetic centers in the United States and Canada that offer multiple specialty GC services. Individuals with responsibilities for making decisions about creating new clinical GC positions were interviewed using a semi‐structured guide, and an interpretive description approach was used for inductive data analysis. From interviews with 12 participants, we developed a theoretical model describing how the process of creating new GC positions required institutional prioritization of funding, which was primarily allocated according to physician referral patterns, which in turn were largely driven by availability of genetic testing and clinical practice guidelines. Generating revenue for the institution, improving physician efficiency, and reinforcing institutional mission were all regarded as valued outcomes that bolstered prioritization of funding for new GC positions. Evidence of patient benefit arising from new GC positions (e.g., pGC) seemed to play a lesser role. These findings highlight the tension between how institutions value GC (generating revenue, reacting to genetic testing), and how the GC profession sees its value (providing patient benefit, focus on counseling).
Kirby, Cragun and Obican reflect on the uncertainties and current limitations of existing therapies and genetic disorders with cell-free DNA (cfDNA) testing and their ethical consideration. They ...recognize that innovations in diagnostic techniques, genomic analysis, stem cell treatments, and gene therapies have the potential to revolutionize approach to many birth defects and genetic diseases that are presently able to manage only after birth. They cite the study that provides a comprehensive perspective on current practice and the probable future for affected pregnancies. The authors also describe a powerful and exciting example of future therapies that build on our current ability to screen for genetic disorders with cfDNA.
Evaluate an intervention to increase family communication (FC) of positive hereditary cancer test results using the Framework for Developing and Evaluating Complex Interventions (FDECI).
We developed ...‘programme theory’ during the FDECI development phase by aligning intervention components with behavior change techniques (BCTs) and theoretical factors expected to improve FC. During the feasibility phase, we obtained feedback from 12 stakeholder interviews.
Intervention components aligned with a total of 14 unique BCTs for which prior evidence links the BCT to theoretical factors that influence behavior change. Constructive stakeholder feedback included: more information desired, rewording to support autonomy by highlighting options, and improvements to navigation, visuals, and audio. Positive comments included: comprehensiveness of materials, modeling of conversations, and usefulness of the materials for helping a person prepare to share positive test results.
The first FDECI phases were helpful for improving the intervention and planning our ongoing effectiveness and future implementation phases.
Our application of the FDECI is novel, including plans to test our ‘programme theory’ using coincidence analysis (CNA) to determine who accesses which intervention materials, how utilizing certain materials impact the aligned theoretical factors, and whether these in turn make a difference in the behavioral outcome.
A Variant of Uncertain Significance (VUS) is a difference in the DNA sequence with uncertain consequences for gene function. A VUS in a hereditary cancer gene should not change medical care, yet some ...patients undergo medical procedures based on their VUS result, highlighting the unmet educational needs among patients and healthcare providers. To address this need, we developed, evaluated, and refined novel educational materials to explain that while VUS results do not change medical care, it remains important to share any personal or family history of cancer with family members given that their personal and family medical history can guide their cancer risk management. We began by reviewing the prior literature and transcripts from interviews with six individuals with a VUS result to identify content and design considerations to incorporate into educational materials. We then gathered feedback to improve materials via a focus group of multidisciplinary experts and multiple rounds of semi-structured interviews with individuals with a VUS result. Themes for how to improve content, visuals, and usefulness were used to refine the materials. In the final round of interviews with an additional 10 individuals with a VUS result, materials were described as relatable, useful, factual, and easy to navigate, and also increased their understanding of cancer gene VUS results.
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