Search

Sarafoglou K, Tridgell AHC, Bentler K, Redlinger-Grosse K, Berry SA, Schimmenti LA. Cardiac conduction improvement in two heterozygotes for primary carnitine deficiency onl-carnitine supplementation. Expanded newborn screening (NBS) for free carnitine levels has led to the identification of a larger number of heterozygous infants of undiagnosed mothers affected with systemic primary carnitine deficiency (PCD), which in turn leads to the identification of other undiagnosed heterozygous family members. There is an increasing recognition that individuals heterozygous for mutations of genes involved in fatty acid oxidation (FAO) may become symptomatic under environmental stress (fasting, prolonged exercise and illness). Considering the importance of carnitine in FAO, its role in heart and bowel function and in lipid metabolism, what is still little known is the phenotypic variability, biochemical parameters and clinical course of PCD heterozygotes with consistently low-to-normal levels to low levels of carnitine over a lifetime. We report on three generations of a family—an asymptomatic PCD heterozygous infant identified through NBS that led to the diagnosis of her asymptomatic PCD-affected mother and the heterozygous status of the maternal grandparents who report some cardiac symptoms that overlap with PCD that improved withl-carnitine supplementation. [ABSTRACT FROM AUTHOR]

Purpose: Utilization of oocyte donation has become an increasingly common practice in assisted reproductive technology (ART). Since the introduction of larger carrier screening (CS) panels and extended family medical histories (EFMH), studies have not examined how this information factors into the oocyte donor selection process. This exploratory, qualitative study provides further insight into what role, if any, donors' available genetic information (e.g., larger CS panels and EFMH) plays in selecting an oocyte donor., Methods: An online screening survey was distributed to individuals who have undergone or are currently in the process of selecting an oocyte donor through the RESOLVE network and Mayo Clinic's Reproductive Endocrinology and Infertility clinic. From 13 survey respondents, six oocyte recipients subsequently participated in semi-structured telephone interviews and discussed their experiences as oocyte recipients including their perceptions of donors' available genetic information and process in choosing an oocyte donor., Results: Genetic information was seen as valuable and reassuring for participants, particularly EFMH, but did not play a significant role in the selection process for these participants. Supplemental emergent themes provide context on the psychosocial complexities of the oocyte recipient experience and possible explanations for why genetic information is not a decisional priority. Participants indicated genetic information was not extensively discussed or fully explained by providers., Conclusions: Results demonstrate how genetic counselors can be more involved in the pre-selection process to discuss the utility and limitations of genetic information, as well as address psychosocial issues common to the oocyte recipient experience., Competing Interests: Declarations. 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). The study was approved by the University of Minnesota and Mayo Medical Centers IRB (protocol 10995 and 20–008436, respectively). 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. Conflict of interest: The authors declare no competing interests., (© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Introduction: In over 50 years since the genetic counseling (GC) profession began, a systematic study of GC communication skills and patient-reported outcomes in actual sessions across multiple clinical specialties has never been conducted. To optimize GC quality and improve efficiency of care, the field must first be able to comprehensively measure GC skills and determine which skills are most critical to achieving positive patient experiences and outcomes. This study aims to characterise GC communication skills using a novel and pragmatic measure and link variations in communication skills to patient-reported outcomes, across clinical specialties and with patients from diverse backgrounds in the USA. Our community-engagement and provider-engagement approach is crucial to develop recommendations for quality, culturally informed GC care, which are greatly needed to improve GC practice., Methods and Analysis: A mixed methods, sequential explanatory design will be used to collect and analyze: audio-recorded GC sessions in cancer, cardiac, and prenatal/reproductive genetic indications; pre-visit and post-visit quantitative surveys capturing patient experiences and outcomes and post-visit qualitative interview data. A novel, practical checklist will measure GC communication skills. Coincidence analysis will identify patterns of GC skills that are consistent with high scores on patient-reported measures. Two-level, multilevel models will be used to evaluate how GC communication skills and other session/patient characteristics predict patient-reported outcomes. Four community advisory boards (CABs) and a genetic counselor advisory board will inform the study design and analysis., Ethics and Dissemination: This study has been approved by the single Institutional Review Board of the University of Minnesota. This research poses no greater than minimal risk to participants. Results from this study will be shared through national and international conferences and through community-based dissemination as guided by the study's CABs. A lay summary will also be disseminated to all participants., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Genetic counselors (GCs) typically provide short-term counseling and assess patient needs, including the need for ongoing psychosocial support. While some patients may benefit from a referral to a mental health provider (MHP), previous research identified barriers to this process due to patient characteristics, the GC work environment, and MHP availability. Adoption of interprofessional collaborative practice (IPCP), a model where multiple healthcare professionals from diverse training disciplines collaborate to deliver patient care, may mitigate these barriers. Evidence suggests that IPCP both increases patient satisfaction and reduces healthcare spending. Anecdotal evidence suggests that GCs and MHPs may use IPCP in select institutions, but there is limited research examining these relationships. This study aims to characterize the benefits, barriers, and limitations of current IPCP practice between GCs and MHPs. Six semi-structured interviews with GCs and MHPs were completed and analyzed thematically. Four themes emerged: (1) mental health concerns in GC sessions and GC scope of practice; (2) establishing and maintaining IPCP between GCs and MHPs; (3) benefits, barriers, and limitations of IPCP; and (4) next steps to develop future IPCP. The findings suggest that there are varying approaches to IPCP that are influenced by perceptions of provider scope of practice. IPCP may mitigate some previously described referral barriers related to logistics, and the availability of trusted MHPs with knowledge of a GCs specialty, thereby improving patient and provider satisfaction., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Genetic counselors are an integral part of the healthcare system; however, the number of genetic counselors in many parts of the United States is limited, impacting access to comprehensive healthcare for all patients. One solution to addressing this deficit includes modifying genetic counseling training programs to increase student enrollment. Fieldwork capacity, driven by a limited number of rotation sites and supervisors, produces a significant bottleneck to entering the profession. Other professions have reported on techniques to increase fieldwork capacity; however, the practicality of these techniques for genetic counseling training has yet to be explored. This study seeks to investigate the perspectives of key stakeholders in genetic counseling training programs on the practicality of techniques already posited in the literature from other allied health professions. Semi-structured focus group interviews with 25 participants were conducted at the 2019 National Society of Genetic Counselors conference. Participants included program directors and supervisors from clinical, industry, and laboratory backgrounds. The focus group responses were analyzed using directed content analysis and a split coding technique, after which several themes emerged within the larger domains of rotation structures, systems infrastructure, skill-building methods, and other novel techniques to increase fieldwork capacity. Emerging themes included the importance of finding quality student placements rather than maximizing the quantity of participatory cases; a need for transparency about the transferability of skills learned from novel experiences; scaffolding student entrustment to expand supervisor capacity; and recognizing nuances in implementation for individual programs. Overall, the results emphasize the importance of openness in communication to manage expectations for students and supervisors, who may be more hesitant to try novel rotation placements and skill-building techniques. Genetic counseling programs may use these results to address the bottleneck of fieldwork capacity, increasing student enrollment., (© 2024 National Society of Genetic Counselors.)

Research shows religiosity and spirituality (R/S) influence genetic counseling patients' and families' risk perception, decision-making, and coping. No published studies have examined how genetic counselors respond to patient-initiated R/S statements. This exploratory study examined genetic counselors' response types and reasons for their responses to two prenatal patient's R/S statements. Genetic counselors (n = 225) recruited through a National Society of Genetic Counselors eblast completed a survey containing two hypothetical scenarios regarding a prenatal patient's receipt of a trisomy 18 diagnosis. Scenarios were identical except for the last patient statement: "God makes everything possible…we leave things in his hands" (a deferring statement) or "I feel like God is punishing me for something I did" (an attributing statement). Imagining they were the counselor, participants wrote a response to each scenario and provided reasons for their response. Responses were analyzed using the Helping Skills Verbal Response System. MANOVA and chi-square tests, examining differences in response type based on patient statement (deferring or attributing), participant comfort with R/S, and years of experience, yielded a significant multivariate effect for scenario (p < 0.001). Responses to the deferring statement scenario contained a greater proportion of content statements (p < 0.001), closed questions (p < 0.001), and information-giving (p < 0.001). Responses to the attributing statement scenario contained a greater proportion of open questions (p = 0.05), influencing statements (p < 0.001), and affective statements (p = 0.006). Neither comfort with R/S nor genetic counseling experience significantly affected response type. Thematic analysis of reasons for responses yielded nine themes. Most prevalent were exploration (of the patient's statement), validation, correction (of patient's beliefs), and reassurance. The findings reflect stylistic differences in how and why genetic counselors respond to patients., (© 2022 The Authors. Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.)

Current genetic counseling practice has not been found to significantly increase risk communication between family members. A more diverse set of genetic counseling approaches may be needed. A genetic counseling intervention based on motivational interviewing principles and the extended parallel process model was utilized to increase cascade outcomes within families with familial hypercholesterolemia, a common, underdiagnosed, and treatable condition. Parents of children with familial hypercholesterolemia were invited to participate in an online pre-survey, single-session genetic counseling intervention, and post-intervention surveys as a part of the CHEERS (Cholesterol Evaluation to Explore Risk Screening) intervention. This study investigated the efficacy of a genetic counselor delivered motivational interviewing intervention and how parents of children with familial hypercholesterolemia react by assessing family member cholesterol screening and risk communication to at-risk relatives. Transcripts were audio-recorded, transcribed, and analyzed for change talk using the Motivational Interviewing Skill Code version 2.1. Participant surveys were analyzed for self-reported extended parallel process constructs and motivations. Coincidence analysis was conducted to explore differences between those with and without positive cascade outcomes within 12 months after the intervention. On average, change talk increased during the session in order of the extended parallel process constructs (perceived severity, susceptibility, response efficacy, self-efficacy). Coincidence analysis revealed that 6 of the 7 cases with positive cascade outcomes were explained by either the presence of high change talk during the intervention or presence of positive motivations shortly after, while 5 of the 5 cases without a positive outcome lacked both of these key factors that were associated with cascade outcomes. Results of this study suggest that incorporating motivational interviewing and the extended parallel process model increases change talk and that the presence of either high levels of change talk or positive motivations is associated with positive cascade outcomes., (© 2022 National Society of Genetic Counselors.)

While addressing culture in supervision is important, research suggests genetic counseling supervisors are unsure how to discuss it within the supervisory relationship. This study explored the perceptions of genetic counselor supervisors from the United States regarding how their supervisors approached racial/ethnic differences in their supervisory relationships when they were students, effects on those relationships, and subsequent influences on their supervision practices. Nine genetic counselors who self-identified as White/Caucasian, and nine who self-identified as racial/ethnic backgrounds other than White/Caucasian, were purposively recruited to participate in semi-structured phone interviews. Questions explored participant perceptions of how their supervisors approached racial/ethnic differences in supervision, effects on those supervisory relationships, and influences of their experiences as students on their current supervision practice. Thematic analysis revealed four major themes, with most participants agreeing that (1) recognition of race/ethnicity in supervision was limited as a student and in their current supervision practices; (2) supervisors vary in their comfort discussing race/ethnicity; (3) prior student supervision experiences of racial/ethnic differences have limited effects on current supervision practice; and (4) supervisors desire more training in how to approach conversations around race/ethnicity. Further professional discussions about the role of race/ethnicity in the supervisory relationship and training in addressing the cultural context in supervision are needed., (© 2021 National Society of Genetic Counselors.)

Biculturals are individuals who have had significant exposure to more than one culture and who possess more than one cultural frame of reference. In the United States, this term has been used to describe both immigrants and members of racial or ethnic minority groups who live within the majority white culture. Biculturals develop a distinct repertoire of social and cognitive skills and have been shown to engage in a process of cultural frame switching in response to salient cultural cues. Through a conceptual lens offered by current research on biculturalism, this article examines transcripts of focus groups we collected for a study on the clinical training experiences of genetic counseling students who identify with a racial or ethnic minority group. We conducted a constructivist grounded theory study, collecting data via 13 videoconference focus groups with 32 recent graduates of genetic counseling training programs who identify with a racial or ethnic minority group. We focus here on two of the thematic categories identified in that study related to participants' experiences interacting with patients during supervised clinical rotations. We find three ways in which being bicultural influenced these genetic counselors' patient interactions. First, participants described interactions with both culturally concordant and culturally discordant patients that highlighted the salience of their racial, ethnic, or cultural identity in these encounters. Second, they reported sensitivity to social nuances between and within cultures, reflecting the findings of prior research about heightened cultural awareness in biculturals. Third, they described switching cultural frames in response to their patients' identities which, at times, created conflict between their professional and culturally concordant frameworks. The results of this study suggest that the influence of a student's racial, ethnic, or cultural identity on interactions with patients should be discussed within the supervisory relationship, and that being bicultural confers advantages in learning to provide culturally responsive care., (© 2021 The Authors. Journal of Genetic Counseling published by Wiley Periodicals LLC on behalf of National Society of Genetic Counselors.)

Familial hypercholesterolemia (FH) is an inherited condition resulting in increased risk of premature cardiovascular disease. This risk can be reduced with early diagnosis and treatment, but it can be challenging to identify individuals with FH. Cascade screening, the most efficient and cost-effective identification method, requires FH patients to communicate with their at-risk family and encourage them to pursue screening. Beyond FH, patients with conditions increasing disease risk to family members report barriers to the communication process such as insufficient knowledge of the condition and discomfort informing relatives. We conducted a pilot study of a genetic counseling intervention incorporating behavior-change principles from motivational interviewing (MI) and the extended parallel process model (EPPM) to help parents of children with FH overcome these barriers and improve cascade screening rates for FH. Of the 13 participants who completed the intervention and post-intervention surveys, 6 reported contacting and/or screening additional relatives. A large effect size in increasing communication and screening was observed (η 2  = 0.20), with the mean percent of at-risk relatives contacted rising from 33% to 45%, and the mean percent screened rising from 32% to 42%. On average, 2.23 new relatives were contacted and 2.46 were screened, per participant, by the end of the study. Direct content analysis revealed that despite the open-ended nature of the goal-setting process, participant goals fell into two categories including those who set goals focused on communicating with and screening family members (n = 9) and those who set goals only focused on managing FH (n = 4). Overall, the communication and screening rates reported after the intervention were higher than previous observations in adult FH populations. These results suggest this EPPM/MI genetic counseling intervention could be a useful tool for increasing communication and cascade screening for FH. With further research on goal-setting techniques, the intervention could be refined and replicated to identify more individuals affected by FH or modified for use with other actionable genetic conditions., (© 2021 National Society of Genetic Counselors.)

Self-involving responses are direct expressions of genetic counselors' here-and-now feelings about/reactions to patients. Strategic, sparing use of self-involving responses may enhance practitioner genuineness, likeability, and trustworthiness, decrease patient anxiety, and increase patient trust and engagement. Conversely, they may threaten patients who are uncomfortable with emotional expression or confuse them about the counselor's intentions. Despite theorized benefits and risks, no study has explored genetic counselor self-involving responses. This study explored whether clinical genetic counselors use self-involving responses with their patients, reasons for doing so, and their perceptions of when and why the responses work well versus poorly. Two-hundred sixty-eight genetic counselors, invited via a National Society of Genetic Counselors e-blast, completed an online screening survey. Eighty-nine percent reported using self-involving responses with patients, and 17 were purposively selected to participate in semi-structured phone interviews. Thematic analysis yielded themes regarding potential benefits, risks, counselor factors and context, and patient factors related to using self-involving responses. Benefits include conveying counselor conditions for facilitating counseling process (e.g., genuineness, building rapport, focusing the session, and encouraging the patient to open-up), and counseling outcomes by validating decision-making. Risks of use include hindering counseling processes and outcomes by misperceiving patient feelings, boundary crossing, and being unduly directive. Factors, both from the counselor and the context of the session, include comfort with the technique, mastery of clinical skills, minimal knowledge of patient emotions, type of counseling session, and counselor practice specialty. Patient factors include prior rapport with the counselor, and patient emotionality and cultural background. Findings underscore the need for training about this technique. Future research could examine patients' perceptions of self-involving statements and differences in self-involvement across practice specialties and counseling modalities., (© 2021 National Society of Genetic Counselors.)

Prior to COVID-19, the field of genetic counseling was responding to a workforce shortage in patient-facing roles through efforts to increase the training capacity within existing programs, as well as development of new programs. These efforts were hindered by the number and capacity of fieldwork training sites. COVID-19 heightened this barrier with a sudden restriction on student training for an indefinite period of time. The onset of these restrictions highlighted the need to think creatively and, more importantly, collaboratively for ways to not only expand but also maintain fieldwork training capacity. Described here are two different collaborative efforts in response to pandemic-related cancellations of important curriculum components: 1) the development of clinical simulation experiences and coursework shared between two ACGC accredited training programs; and 2) the creation of a virtual laboratory curriculum between an ACGC accredited training program and a non-academic laboratory partner. This Professional Issues paper illustrates how collaboration with our academic and non-academic colleagues benefits students, training programs and non-academic partners beyond the needs of the initial crisis of a global pandemic., (© 2021 National Society of Genetic Counselors.)

Racial and ethnic minority graduate students in a variety of academic and professional disciplines have been reported to experience microaggressions and feelings of isolation during the course of their training. The purpose of this constructivist grounded theory study was to characterize the training experiences of genetic counseling students who identify as racial or ethnic minorities. The goal of enhancing racial and ethnic diversity has been discussed for decades within the genetic counseling profession, but the actual training experience of underrepresented minorities has yet to be fully explored. We conducted 13 videoconference focus groups with 32 recent graduates of genetic counseling training programs who identify as racial or ethnic minorities. This paper presents results from three of the thematic categories identified in that larger study: Participants' interactions with classmates, Sense of belonging in the GC profession, and Available or desired supports. Participants reported experiencing negative interactions within their training program, during supervised clinical rotations, and at professional events; negative interactions included comments suggesting they did not belong in the United States, being confused with another non-white classmate, and intrusive questions or assumptions about their family, culture, or religion that were not similarly directed at white classmates. Trainees who were Muslim or Black/African American reported feeling particularly isolated by these incidents. Participants reported that they sought support from a variety of sources following negative experiences. Non-minority program faculty were perceived as able to offer listening or action but not understanding or guidance, which were perceived as more likely to be available from individuals who identify as racial or ethnic minorities. Results of this exploratory study suggest the need for training programs to ensure that appropriate supports are available to minority students, including diverse faculty and staff and non-program resources., (© 2021 National Society of Genetic Counselors.)

Research on genetic counseling outcomes has examined a range of metrics many that differ in quality and extent of psychometric assessment and in some cases fail to encompass potential benefits of genetic counseling for patients. Although a variety of possible outcomes have been explored, selecting the most important or relevant outcomes and identifying well-validated measures remain challenging. An online, modified Delphi method was used to prioritize genetic counseling outcomes from the viewpoint of individuals from four stakeholder groups - clinical genetic counselors, outcome researchers, genetic counseling training directors, and genetic counseling consumers/advocates. A survey of 181 genetic counseling outcomes were rated based on perceived importance and then sorted and categorized using the Framework for Outcomes of Clinical Communication Services in Genetic Counseling (FOCUS-GC) framework. Three of the FOCUS-GC domains (Process, Patient Care Experience, and Patient Changes) were assessed as most important, while none of the most highly rated outcomes fell into the domains of Patient Health or Family Changes. The majority of outcomes deemed most important by stakeholder groups were within the process domain. When looking at the proportion of outcomes that overlapped with the consumer group, clinical genetic counselors had the highest degree of similarity with consumers when looking at the high relative importance band outcomes (61.1% overlap), followed by training directors (58.3%), and outcome researchers (41.7%). Variability in importance according to stakeholder groups was an important consideration and prioritizing outcomes was challenging given that the majority of outcomes were rated as important. Working to bridge the realities of clinical care and fundamental differences in the viewpoints and priorities of genetic counseling research directions is an area for future exploration., (© 2020 National Society of Genetic Counselors.)

In response to mounting concerns regarding a perceived shortage of genetic counselors, the Genetic Counselor Workforce Working Group (WFWG) was established in 2013 to identify barriers to growth of the genetic counseling workforce. After completing a workforce analysis and confirming a shortage, the WFWG convened a strategic planning session in 2017 to identify goals and strategies that would increase the number of certified counselors to meet the current and future workforce demands and ensure access to genetic counselor services. Subcommittees were formed and charged with achieving assigned goals; one such subcommittee included a curriculum working group to build a dynamic and effective educational infrastructure to increase the number of genetic counselors graduated from accredited training program. This paper reports of progress of the WFWG Curriculum Subcommittee toward achieving this goal through a narrative literature review that identifies innovative education methods that help to increase capacity of fieldwork training, both in genetic counseling training programs and in other health professions. Of the five thematic areas identified in this study, four are analyzed for insight into building clinical capacity: systems/infrastructure, rotation structure/models, skill building, and novel techniques. While additional studies are needed to establish best practices in these thematic areas, there are several take-aways that training programs can begin to utilize as they look to expand training opportunities. While growth of the genetic counseling workforce will continue to be a long-term issue, programs should begin to think creatively and innovatively about how to reach beyond traditional fieldwork training formats to build capacity. The strategies explored in this paper offer feasible and untapped solutions that can help support efforts to establish a sustainable genetic counseling workforce., (© 2020 National Society of Genetic Counselors.)

Emerging adulthood, a distinct developmental period between ages 18 and 29 years, comprises five features: identity exploration, experimentation/possibilities, negativity/instability regarding one's outlook, self-focus, and feeling in-between adolescence and adulthood. A growing literature examines the impact of genetic conditions on individuals who chronologically fit the emerging adulthood period. This systematized literature review uses the emerging adulthood theory to determine whether individuals living with or at-risk for a genetic condition experience the features of this period as well as similarities and differences between these two groups. A literature search yielded 1,303 peer-reviewed papers from the 17 years since emerging adulthood theory was published. Ten papers met inclusion criteria-five for those Living With a genetic condition (e.g., cystic fibrosis) and five for those At-Risk for a genetic condition (e.g., hereditary breast and ovarian cancer). Content analysis yielded themes consistent with the five emerging adulthood features for both individuals Living With and At-Risk for genetic conditions. Negativity/instability was most prevalent, and feeling in-between was least prevalent in both groups. Results further suggest unique challenges related to one's genetic conditions/risk with respect to independence (from family, healthcare providers), career/education, relationships/social life, family planning, and life perspective experiences. Salient differences were apparent between the groups in their experiences of the emerging adulthood features. For instance, Living With individuals reported challenges concerning their ongoing physical symptoms, whereas At-Risk individuals reported challenges regarding genetic testing decisions and anticipation of physical symptoms. Thus, emerging adults Living With and At-Risk for genetic conditions appear to experience the main emerging adulthood features, but they face unique challenges related to their genetic conditions/risk. Understanding emerging adults' experiences can aid genetic counselors in addressing their specific concerns., (© 2020 National Society of Genetic Counselors.)

Research demonstrates some genetic counselors self-disclose while others do not when patients' request self-disclosure. Limited psychotherapy research suggests skillfulness matters more than type of counselor response. This survey research assessed perceived skillfulness of genetic counselor self-disclosures and non-disclosures. Genetic counselors (n = 147) and proxy patients, women from the public (n = 201), read a hypothetical prenatal genetic counseling scenario and different counselor responses to the patient's question, What would you do if you were me? Participants were randomized either to a self-disclosure study (Study 1) or non-disclosure study (Study 2) and, respectively, rated the skillfulness of five personal disclosures and five professional disclosures or five decline to disclose and five redirecting non-disclosures. Counselor responses in both studies varied by intention (corrective, guiding, interpretive, literal, or reassuring). Participants also described what they thought made a response skillful. A three-way mixed ANOVA in both studies analyzed skillfulness ratings as a function of sample (proxy patient, genetic counselor), response type (personal, professional self-disclosure, or redirecting, declining non-disclosure), and response intention. Both studies found a significant three-way interaction and strong main effect for response intention. Responses rated highest in skillfulness by both genetic counselors and proxy patients in Study 1 were a guiding personal self-disclosure and a personal reassuring self-disclosure. The response rated highest in skillfulness by both samples in Study 2 was a redirecting non-disclosure with a reassuring intention. Proxy patients in both studies rated all literal responses as more skillful than genetic counselors. Participants' commonly described a skillful response as offering guidance and/or reassurance. Counselor intentions and response type appear to influence perceptions, and counselors and patients may not always agree in their perceptions. Consistent with models of practice (e.g., Reciprocal-Engagement Model), genetic counselors generally should aim to convey support and guidance in their responses to prenatal patient self-disclosure requests., (© 2019 National Society of Genetic Counselors.)

As genetic counseling services expand and reach a wider catchment of the population, there is a critical need to better understand the impact of services on a greater diversity of patients. We conducted a systematic review to evaluate genetic counseling experiences and outcomes among racial and ethnic minorities. Six databases extracted articles published from 2005 to 2019 that assessed genetic counseling participation, knowledge and awareness, motivators, barriers, perceptions, and outcomes for racial and ethnic minority populations in the United States. Genetic counseling outcomes were categorized using the Framework for Outcomes of Clinical commUnication Services. A total of 1,227 abstracts were identified, of which 23 papers met inclusion criteria. Results suggest the possibility of racial and ethnic differences in some genetic counseling experiences and outcomes but noted differences were not adequately replicated between studies. The few included studies differed greatly in aims, methods, and results, which made comparison across study designs challenging and effectively barred thematic analysis. Additional research is needed that includes more study populations and settings with patients of diverse racial and ethnic backgrounds, as well as more structured study designs that allow for elucidations of differences between White and non-White populations., (© 2020 National Society of Genetic Counselors.)

While the lack of racial and ethnic diversity in the genetic counseling profession has been discussed for decades, little attention has been paid to the training experiences of under-represented minorities. Under-represented minority graduate students in other disciplines have been reported to experience microaggressions and feelings of isolation during training, and they are often informally enlisted to educate classmates about issues related to race. In 2019, sociologist Lauren Olsen coined the term conscripted curriculum to describe the utilization of minority medical students to elucidate issues of race or ethnicity for their classmates. The conscripted curriculum arises when these topics are taught in a small-group discussion format that relies on students sharing their individual experiences to educate their classmates. In classrooms with limited diversity, the expectation to contribute falls disproportionately on students from non-majority groups. In this qualitative study, we conducted videoconference focus groups with 32 recent graduates of genetic counseling training programs who identified as racial or ethnic minorities. We present the results of two thematic categories that emerged from that study: the participants' perspectives on the cultural competency curriculum in their training programs and the participants' feelings of being pressed into service as spokespeople for their cultural groups. Participants described the cultural competency training as occurring primarily in a small-group discussion format in which students were expected to share their personal experiences. During these discussions, minority students, especially those in less-diverse class cohorts, felt obliged to contribute their perspectives in order to educate non-minority classmates about issues of race and ethnicity, leading to feelings of frustration and exhaustion. The results reflect a conscripted curriculum as described by Olsen (2019). Journal of Health and Social Behavior, 60(1), 55-68, in which minority students bear the burden of educating their classmates about the social basis of race. Genetic counseling training programs should critically examine their cultural competency curriculum to create a more equitable training environment., (© 2020 National Society of Genetic Counselors.)

Clinical supervision plays a key role in the training of genetic counselor practitioners. The Reciprocal-Engagement Model of Supervision (REM-S) is a recently published model of genetic counseling supervision centered on the supervisor-student relationship. The REM-S comprises five tenets and 16 goals that reciprocally interact to achieve three broad supervision outcomes. Lacking, however, is a comprehensive set of supervisor strategies that correspond to the tenets and goals. This study aimed to elaborate the REM-S by identifying strategies genetic counselor supervisors use to accomplish each REM-S goal when they supervise students in clinical rotations. Nineteen prenatal, pediatric, and cancer genetic counselor supervisors from clinics in a major Midwestern city participated in one of three focus groups. Eleven semistructured questions were asked about strategies they use when attempting to accomplish each REM-S goal. Directed content analysis yielded a total of 14 different strategy domains that vary in their frequency for accomplishing each REM-S goal. Participants identified between nine and 13 strategy domains for each goal. Across all REM-S goals, the most frequent strategy domains are: Assess student; Practice self-reflection to increase supervisor self-awareness; and Establish student goals and expectations. The present findings elaborate the REM-S by identifying supervisor strategies corresponding to the REM-S goals. These strategies can inform training in clinical supervision, and they can be the focus of observational studies designed to identify supervisor behaviors that characterize each strategy., (© 2019 National Society of Genetic Counselors.)

As the genetic counseling field evolves, a comprehensive model of practice is critical. The Reciprocal-Engagement Model (REM) consists of 5 tenets and 17 goals. Lacking in the REM, however, are well-articulated counselor strategies and behaviors. The purpose of the present study was to further elaborate and provide supporting evidence for the REM by identifying and mapping genetic counseling strategies to the REM goals. A secondary, qualitative analysis was conducted on data from two prior studies: 1) focus group results of genetic counseling outcomes (Redlinger-Grosse et al., Journal of Genetic Counseling, 2015); and 2) genetic counselors' examples of successful and unsuccessful genetic counseling sessions (Geiser et al. 2009). Using directed content analysis, 337 unique strategies were extracted from focus group data. A Q-sort of the 337 strategies yielded 15 broader strategy domains that were then mapped to the successful and unsuccessful session examples. Differing prevalence of strategy domains identified in successful sessions versus the prevalence of domains identified as lacking in unsuccessful sessions provide further support for the REM goals. The most prevalent domains for successful sessions were Information Giving and Use Psychosocial Skills and Strategies; and for unsuccessful sessions, Information Giving and Establish Working Alliance. Identified strategies support the REM's reciprocal nature, especially with regard to addressing patients' informational and psychosocial needs. Patients' contributions to success (or lack thereof) of sessions was also noted, supporting a REM tenet that individual characteristics and the counselor-patient relationship are central to processes and outcomes. The elaborated REM could be used as a framework for certain graduate curricular objectives, and REM components could also inform process and outcomes research studies to document and further characterize genetic counselor strategies.

The need for evidence-based medicine, including comparative effectiveness studies and patient-centered outcomes research, has become a major healthcare focus. To date, a comprehensive list of genetic counseling outcomes, as espoused by genetic counselors, has not been established and thus, identification of outcomes unique to genetic counseling services has become a priority for the National Society of Genetic Counselors (NSGC). The purpose of this study was to take a critical first step at identifying a more comprehensive list of genetic counseling outcomes. This paper describes the results of a focus group study using the Reciprocal-Engagement Model (REM) as a framework to characterize patient-centered outcomes of genetic counseling clinical practice. Five focus groups were conducted with 27 peer nominated participants who were clinical genetic counselors, genetic counseling program directors, and/or outcomes researchers in genetic counseling. Members of each focus group were asked to identify genetic counseling outcomes for four to five of the 17 goals of the REM. A theory-driven, thematic analysis of focus group data yielded 194 genetic counseling outcomes across the 17 goals. Participants noted some concerns about how genetic counseling outcomes will be measured and evaluated given varying stakeholders and the long-term nature of genetic concerns. The present results provide a list of outcomes for use in future genetic counseling outcomes research and for empirically-supported clinical interventions.

Genetic counselor self-disclosure is a complex behavior that lacks extensive characterization. In particular, data are limited about genetic counselors' responses when patients ask them to self-disclose. Accordingly, this study investigated genetic counseling students' (n = 114) and practicing genetic counselors' (n = 123) responses to two hypothetical scenarios in which a female prenatal patient requests self-disclosure. Scenarios were identical except for a final patient question: "Have you ever had an amniocentesis?" or "What would you do if you were me?" Imagining themselves as the counselor, participants wrote a response for each scenario and then explained their response. Differences in disclosure frequency for students vs. counselors and disclosure question were assessed, and themes in participant responses and explanations were extracted via content and thematic analysis methods. Chi-square analyses indicated no significant differences in frequency of student versus counselor disclosure. Self-disclosure was significantly higher for, "Have you ever had an amniocentesis?" (78.5 %) than for, "What would you do if you were me?" (53.2 %) (p < .001). Types of self-disclosures included personal, professional, and mixed disclosures. Prevalent explanations for disclosure and non-disclosure responses included: remain patient focused and support/empower the patient. Additional findings, practice and training implications, and research recommendations are presented.

A limited amount of research indicates patient requests play a major role in genetic counselors' self-disclosure decisions and that disclosure and non-disclosure responses to patient requests may differentially affect genetic counseling processes. Studies further suggest patient requests may be more common in prenatal settings, particularly when counselors are pregnant. Empirical evidence is limited however, concerning the nature of patient requests. This study explored genetic counselors' experiences of prenatal patients' requests for self-disclosure. Four major research questions were: (1) What types of questions do prenatal patients ask that invite self-disclosure?; (2) Do pregnant genetic counselors have unique experiences with prenatal patient disclosure requests?; (3) How do genetic counselors typically respond to disclosure requests?; and (4) What strategies are effective and ineffective in responding to disclosure requests? One hundred seventy-six genetic counselors completed an online survey and 40 also participated in telephone interviews. Inductive analysis of 21 interviews revealed patient questions vary, although questions about counselor demographics are most common, and patients are more likely to ask pregnant counselors questions about their personal pregnancy decisions. Participants reported greater discomfort with self-disclosure requests during pregnancy, yet also disclosing more frequently during pregnancy. Counselor responses included personal self-disclosure, professional self-disclosure, redirection, and declining to disclose. Factors perceived as influencing disclosure included: topic, patient motivations, timing of request, quality of counseling relationship, patient characteristics, and ethical/legal responsibilities. Disclosure practices changed over time for most counselors. Additional findings, practice implications, and research recommendations are discussed.

Screened for by all state newborn screening (NBS) programs in the United States, mitochondrial acetoacetyl-coenzyme A thiolase (T2), or β-ketothiolase, deficiency is a rare autosomal recessive disorder that causes ketoacidosis and hypoglycemia/hyperglycemia. Outcomes vary from normal development to severe cognitive impairment or even death after an acute episode of ketoacidosis. The classical biochemical profile of T2 deficiency is a result of null mutations in both alleles of the ACAT1 gene and consists of persistently increased urinary excretion of ketones, characteristic organic acids, and tiglylglycine as well as abnormal blood or plasma acylcarnitine profiles in acute and stable conditions. Early diagnosis and aggressive management can prevent further episodes of ketoacidosis and lead to normal development. We report the cases of 3 children, all subsequently found to have mutations predicted to be associated with no residual T2 enzymatic activity, but only 1 was identified by NBS in Minnesota since 2001. To our knowledge, this is the first description of compound heterozygotes for null mutations associated with no enzymatic activity exhibiting normal urinary organic acid, blood, and plasma acylcarnitine profiles when clinically well, thereby explaining the false-negative NBS results. We suggest that T2 deficiency may be underrecognized, because the incidence of T2 deficiency in Minnesota, on the basis of these 3 cases, is 1 in 232 000, higher than the reported <1 in 1 million incidence. Our cases emphasize that T2 deficiency must be considered in patients who present with ketoacidosis disproportionately severe to the triggering illness despite normal NBS results or nonspecific biochemical findings in blood and urine during asymptomatic periods., (Copyright © 2011 by the American Academy of Pediatrics.)

Holoprosencephaly (HPE) is a condition characterized by a defect in the development of the midline embryonic forebrain. When detected prenatally, the diagnosis of HPE offers parents a poor but often uncertain prognosis. Since the majority of parents receiving a prenatal diagnosis of an abnormality terminate their pregnancies, few studies have examined parents' experiences and needs surrounding the decision to continue a pregnancy. We present a descriptive study of in-depth interviews with 24 parents who chose to continue their pregnancy after receiving a prenatal diagnosis of HPE. Parents were asked about their decision-making process to continue the pregnancy. Qualitative analysis was used to identify common themes that emerged from these parents' experiences. The results suggest that most parents did not make an active decision about continuing the pregnancy. Rather, they described a more subtle decision-making process that evolved over time and consisted of several factors. These factors included the parents' religious and personal beliefs, past experiences, and the uncertainty involved in the diagnosis of HPE. Throughout the decision-making process, they described informational, emotional, and supportive needs from family, friends, and health professionals. All of these factors contributed to the evolution of the parents' decision to continue the pregnancy and the acceptance of their decision. Results of this exploratory study suggest health care professionals need to work with parents as they make their decision to continue an affected pregnancy. The results also provide the groundwork for prospective investigation into parents' decision-making process as they receive and adjust to prenatal diagnoses of an abnormality.