Genetic counselors describe their professional identity as who they are (personal characteristics and attributes), what they do (actions and skills), and what they possess (training and knowledge). A shared multidimensional perspective highlights the transferability of their skills across diverse roles and settings. This qualitative study aimed to identify factors that influence genetic counselors' perceptions and formation of their professional identities. Using Social Identity Theory as a theoretical framework, semi-structured recorded interviews were conducted with 50 genetic counselors who were purposefully sampled to ensure diversity of personal demographics (gender, race/ethnicity, sexual orientation, disability, and caregiver status), as well as years, settings, and roles in genetic counseling practice. Transcripts were coded and subjected to codebook thematic analysis using NVivo. Professional identity was influenced by internal validation (sense of purpose in work, pride, and confidence), external validation (from other colleagues, work system, degree of autonomy, and patients), one's personal identities (demographics, life experiences, and persona), and connections with others (professional network, peer support, role models, and giving back). Alignment and misalignment of these factors and the perceived collective identity of the profession impacted genetic counselors' sense of belonging to the profession both positively and negatively, respectively. Continued efforts to diversify the profession, as well as expanded opportunities for genetic counselors to work in new settings and roles, require critical reflection and discussion about the collective identity of the genetic counseling profession. The findings of this study can inform the recruitment, training, credentialing, continuing education, and retention of genetic counselors to ensure that genetic counselors, regardless of their personal identities or their work roles or settings, develop and maintain a sense of belonging and commitment to the profession and its values. In turn, the support of professional identity formation can positively impact genetic counselors' job satisfaction, competency, and delivery of healthcare to their patients and the populations they serve.

Professional identity is defined as the attitudes, behaviors, values, and experiences by which individuals define themselves in a professional role and is influenced by socialization during training and in the workplace. As professional identity develops and is integrated with one's personal identities, it allows an individual to think, act, and feel like a member of their chosen profession and to develop a sense of meaning, confidence, and satisfaction in their work. Conflicts may arise due to perceived differences between one's professional identity and the collective identity of the profession, resulting in stress, burnout, and attrition, all of which can negatively impact patient care and the collective identity of the genetic counseling profession. Using Social Identity Theory (SIT) as a theoretical framework to develop the semi-structured interview protocol, recorded interviews were conducted with 50 genetic counselors who were purposefully sampled to ensure diversity of personal demographics (gender, race/ethnicity, sexual orientation, disability, and caregiver status), as well as years, settings, and roles in genetic counseling practice. Transcripts were coded and subjected to codebook thematic analysis using NVivo. Genetic counselors described their professional identity in terms of who they are (characteristics and attributes), what they do (actions and skills), and what they have (training and knowledge). The majority of participants had a multidimensional perspective of what it means to be a genetic counselor, noting the transferability of their skills to a broad set of roles and settings, which supported their sense of professional identity, particularly for those who were no longer seeing patients. Yet many expressed tension with the collective identity of the profession. Expanded opportunities for genetic counselors to work in new settings and roles require review and revision of key professional documents to ensure they are reflective of the collective identity of the genetic counseling profession.

Opportunities for genetic counselors to work in a variety of practice settings have greatly expanded, particularly in the laboratory. This study aimed to assess attitudes of genetic counselors working both within and outside of the laboratory setting regarding (1) the re-wording and/or expansion of key measures of genetic counselors' competency, including practice-based competencies (PBCs) and board examination, to include laboratory roles, (2) preparation and transferability of competencies developed in master's in genetic counseling (MGC) programs to different roles, (3) need of additional training for genetic counselors to practice in laboratory settings, and (4) preferred methods to obtain that training. An e-blast was sent to ABGC diplomats (N = 5458) with a link to a 29-item survey with 12 demographic questions to compare respondents to 2021 NSGC Professional Status Survey (PSS) respondents. Statistical comparisons were made between respondents working in the laboratory versus other settings. Among 399 responses received, there was an oversampling of respondents working in the laboratory (52% vs. 20% in PSS) and in non-direct patient care positions (47% vs. 25% in PSS). Most respondents agreed the PBCs were transferable to their work yet favored making the PBCs less direct patient care-focused, expanding PBCs to align with laboratory roles, adding laboratory-focused questions to the ABGC exam, and adding laboratory-focused training in MGC programs. Most agreed requiring post-MGC training would limit genetic counselors' ability to change jobs. Genetic counselors working in the laboratory reported being significantly less prepared by their MGC program for some roles (p < 0.001) or how the PBCs applied to non-direct patient care positions (p < 0.001). Only 53% of all respondents agreed that NSGC supports their professional needs and others in their practice area, and genetic counselors working in the laboratory were significantly less likely to agree (p = 0.002). These sentiments should be further explored.

A growing percentage of genetic counselors are employed in roles that do not involve direct patient care, commonly in commercial diagnostic laboratories. This study aimed to assess characteristics of laboratory and industry (LI) roles and perceptions of the genetic counseling community's views towards such roles. Members of NSGC and ABGC were invited to participate in this study. Data analysis included descriptive and inferential statistics and select participant quotes are included to highlight key points identified by statistical analyses. Three hundred twenty-six genetic counselors who self-identified as currently or previously working within an LI role responded to the survey. Over 40% of participants reported feeling that they were not perceived positively by colleagues outside of LI settings, and 54% felt that GC colleagues in non-LI roles provided mostly negative commentary about LI GC roles. Over 90% of individuals felt that their employer was a factor in the way they were perceived by others and that this factor carried a bigger weight than job title, work setting, or even professional responsibilities. Qualitative responses from open-ended text questions suggest that while perceptions toward LI roles have improved over time, commentary regarding the "dark side" of genetic counseling persists. To promote the continued, unified growth of the genetic counseling profession and other healthcare professions, it is necessary to address this source of intra-professional conflict.

Opportunities for genetic counselors to work in the laboratory have grown exponentially, yet the professional development needed to serve in these roles had not been previously explored. This study aimed to identify competencies required for entry-level genetic counselors working in the laboratory, explore the perceived level of preparation of these competencies as noted by experts in the laboratories, and assess the perceived value of additional credentialing for genetic counselors practicing in these settings. Twenty genetic counselors working in the laboratory setting and five MD or PhD laboratory managers, identified through purposeful and snowball sampling and with at least 5 years of experience working in a laboratory, were interviewed using a semi-structured protocol. Transcripts were analyzed thematically using deductive and inductive coding. Key findings included the distinction of laboratory and industry roles as involving nondirect patient care and differing from genetic counseling roles in the clinical setting. Genetic counselors working in the laboratory feel well prepared to transition into this setting and provide a unique patient-focused perspective to laboratory roles, including variant interpretation, marketing, and product development. Practice-based competencies (PBCs) were translatable to those used in the laboratory, yet variant interpretation, limitations of genomics-based tests, and the business of health care were noted as important to these roles but not fully addressed in the PBCs. Additional skills were often developed through on-the-job training and interdisciplinary collaboration, but more exposure to diverse roles in genetic counseling programs' didactic and field training was recommended. The majority felt that requiring an additional post-master's credential to work in the laboratory setting may restrict movement into these roles. Several questioned their identity as genetic counselors as they were no longer providing direct patient care and/or had been dissuaded by others from pursuing a laboratory position. Research focused on professional identity among genetic counselors working in nondirect patient care roles is warranted.

Purpose Adult-onset disease risks associated with carriers of recessive disease have and will continue to be identified. As carrier screening becomes more broadly utilized, providers face the dilemma of whether they should discuss these risks during discussions with prospective parents. This study aimed to understand whether preconception/prenatal genetic counselors (PPGCs) were aware of the risk of Parkinson disease in carriers of, and persons with, Gaucher disease and the reasons behind choosing whether to discuss this risk with patients. Methods Eligible participants included board-certified or board-eligible genetic counselors who had counseled preconception/prenatal patients within the past 3 years. An online survey was distributed via the National Society of Genetic Counselors in November of 2017. Results One hundred twenty genetic counselors completed the quantitative survey, distributed in Fall of 2017. While the majority of respondents knew of the Gaucher-related Parkinson's link (n = 78; 65%), just over one-third reported discussing it in preconception/prenatal settings (n = 30; 38.5%). Respondents reported discussing these links more consistently when disclosing positive results or when the patient/family approached the topic. Respondents cited the lack of professional guidelines as one of the main reasons for not discussing the link. Conclusion These results highlight an inconsistency in PPGCs' discussions of the Parkinson's risk in Gaucher disease carriers, and the need to develop guidelines regarding these issues to help standardize the care and education of patients.

Carrier screening, a nearly half-century old practice, aims to provide individuals and couples with information about their risk of having children with serious genetic conditions. Traditionally, the conditions for which individuals were offered screening depended on their self-reported race or ethnicity and which conditions were seen commonly in that population. This process has led to disparities and inequities in care as the multi-racial population in the U.S. has grown exponentially, yet databases used to determine clinical practice guidelines are made up of primarily White cohorts. Technological advancements now allow for pan-ethnic expanded carrier screening (ECS), which screens for many conditions regardless of self-reported race or ethnicity. ECS presents a unique opportunity to promote equitable genetic testing practices in reproductive medicine. However, this goal can only be achieved if we acknowledge and appreciate the innumerable inequities evidenced in reproductive medicine and other socio-legal practices in the United States, and if we intentionally work in concert with healthcare providers, policy makers, advocates, and community health champions to reduce current and future reproductive health disparities. Herein, we provide a brief review of the way that US medical racism and genetic discrimination has shaped the current landscape of carrier screening.

Purpose To better understand the needs and experiences of the X-linked carrier community to improve future recognition, diagnosis, and treatment by bringing X-linked carrier voices together. Methods An anonymous survey link was distributed to members of Remember the Girls, a non-profit organization for female (XX) carriers of X-linked conditions, through its website, Facebook group, Instagram, and Twitter. The survey was developed to gather data on XX carriers of numerous X-linked conditions. Results One hundred and fifty individuals participated in the study. The majority (81/150) of individuals learned about their carrier status by giving birth to a son diagnosed with an X-linked condition. However, over 80% (120/145) believed that they should learn this information before the age of 18. Over 80% of participants (124/148) felt that they either have or may have symptoms attributable to their X-linked condition. Yet, only 10.1% (15/148) felt that they had sufficient access to knowledgeable healthcare providers and/or medical information. Additionally, 46.7% (70/150) of participants reported that healthcare providers did not discuss reproductive options with them. Improving carrier access to medical information, research studies, new treatments, and reproductive methods was found to be the top priority. Conclusion Limited information exists on X-linked carriers' risk for symptoms and there is a lack of available treatments. This study demonstrates the need for more knowledgeable healthcare providers and medical information within the X-linked carrier community.

Objective To evaluate the efficacy of three different carrier screening workflows designed to identify couples at risk for having offspring with autosomal recessive conditions. Methods Partner testing compliance, unnecessary testing, turnaround time, and ability to identify at-risk couples (ARCs) were measured across all three screening strategies (sequential, tandem, or tandem reflex). Results A total of 314,100 individuals who underwent carrier screening were analyzed. Sequential, tandem, and tandem reflex screening yielded compliance frequencies of 25.8%, 100%, and 95.9%, respectively. Among 14,595 couples tested in tandem, 42.2% of females were screen-negative, resulting in unnecessary testing of the male partner. In contrast, less than 1% of tandem reflex couples included unnecessary male testing. The median turnaround times were 29.2 days (sequential), 8 days (tandem), and 13.3 days (tandem reflex). The proportion of ARCs detected per total number of individual screens were 0.5% for sequential testing and 1.3% for both tandem and tandem reflex testing. Conclusion The tandem reflex strategy simplifies a potentially complex clinical scenario by providing a mechanism by which providers can maximize partner compliance and the detection of at-risk couples while minimizing workflow burden and unnecessary testing and is more efficacious than both sequential and tandem screening strategies.

The COVID-19 pandemic created unprecedented challenges worldwide that required rapid adaptation and transformation across the entire healthcare system. Graduate medical training programs across all specialties have moved to rapidly adjust to the virtual landscape. This created a unique opportunity for genetic counselors who work in industry and within diagnostic laboratories to develop internship and rotation programs that can be offered virtually to meet the needs of genetic counseling training programs. Myriad Genetics, Inc., was contacted by numerous graduate programs in genetic counseling beginning in March 2020 requesting the opportunity for their students to participate in remote laboratory-based rotations. As a result of these requests, a working group of genetic counselors across Myriad came together to adapt existing experiences to fully remote formats and develop new remote-based opportunities for students. We describe our experience of expanding genetic counseling student rotations during the COVID-19 pandemic with the goal of providing examples of remote learning experiences that may be applicable to other diagnostic laboratory industry-based rotations for genetic counseling students. In 2020, a total of 59 second-year genetic counseling students, from 21 different genetic counseling training programs, participated in one of five different virtual experiences. Furthermore, two new rotation experiences were created to increase capacity and highlight diversity of industry roles. Genetic counselors in industry are uniquely positioned to provide both remote training opportunities for genetic counseling students and exposure to the variety of roles that genetic counselors can occupy. Increasing the exposure to these roles is important as the genetic counseling workforce continues to expand and diversify, and it is imperative among all programs to enable access to these opportunities.

PURPOSE:While the availability, utility, and complexity of genetic testing expands, limited information exists regarding obstetrician-gynecologist (OB/GYN) residents' knowledge of genetics and confidence in providing genetic services. This study examined OB/GYN residents' educational and clinical experiences with genetics during residency, personal attitudes regarding the value of genetics and its role in their practice, level of comfort with genetic counseling, and potential motivators for learning about genetics.METHODS:Eligible participants included residents currently enrolled in a CREOG-associated OB/GYN training program in the USA or Canada. A link to an anonymous 49-question RedCap survey was emailed to program coordinators in October 2017 to be forwarded to all OB/GYN residents.RESULTS:Eighty-two OB/GYN residents representing all postgraduate years of training completed the survey. Residents indicated learning about genetics through discussions with attending physicians, lectures/courses, and publications. While residents felt their attendings valued (81%) and were knowledgeable about (85%) genetics, 28% felt their attendings did not reinforce concepts that were learned in coursework. Residents valued staying informed about the field of genetics and felt providing genetic services was within their scope of practice; however, there were deficiencies in self-reported comfort level, particularly regarding hereditary cancer counseling. Residents cited accessibility of information as a top motivator to stay informed.CONCLUSIONS:Clinically relevant, accessible didactic information about genetics reinforced in the clinical setting may increase residents' level of comfort with providing genetic services.

Purpose: The American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG) suggest carrier screening panel design criteria intended to ensure meaningful results. This study used a data-driven approach to interpret the criteria to identify guidelines-consistent panels. Methods: Carrier frequencies in >460,000 individuals across 11 races/ethnicities were used to assess carrier frequency. Other criteria were interpreted on the basis of published data. A total of 176 conditions were then evaluated. Stringency thresholds were set as suggested by ACOG and/or ACMG or by evaluating conditions already recommended by ACOG and ACMG. Results: Forty and 75 conditions had carrier frequencies of >= 1 in 100 and >= 1 in 200, respectively; 175 had a well-defined phenotype; and 165 met at least 1 severity criterion and had an onset early in life. Thirty-seven conditions met conservative thresholds, including a carrier frequency of >= 1 in 100, and 74 conditions met permissive thresholds, including a carrier frequency of >= 1 in 200; thus, both were identified as guidelines-consistent panels. Conclusion: Clear panel design criteria are needed to ensure quality and consistency among carrier screening panels. Evidence-based analyses of criteria resulted in the identification of guidelines-consistent panels of 37 and 74 conditions. (C) 2021 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.

Objective Expanded carrier screening (ECS) assesses the risk of individuals and couples of having a child affected with a set of genetic conditions. Carriers have options available to optimize pregnancy outcomes based on personal values and preferences. The greatest range of options is available prior to pregnancy, therefore professional societies recommend this screening be performed preconception. This study aimed to assess awareness of, and interest in, ECS in women preconception. Additionally, it aimed to evaluate preferences for timing and location of education and availability of ECS. Methods A total of 260 nulliparous women from the general population were surveyed through Qualtrics, a national market research survey platform. Data were delineated using descriptive statistics. Results Of this cohort, 43.5% reported being aware of ECS prior to the survey and 77.8% indicated interest. Those previously aware were first informed by family, friends, or independent online research. Interest was primarily driven by a desire for reassurance and to make informed decisions about future pregnancies. Interested respondents indicated a willingness to request testing from providers. Participants showed a preference for education and access from a healthcare provider in person. Conclusion These findings provide insight regarding when and where to best educate and reach women prior to pregnancy about ECS to maximize pregnancy outcomes.

INTRODUCTION: Disease severity is considered to be an important factor for inclusion of diseases on expanded carrier screening (ECS) panels. Evaluating severity requires an objective, systematic method. Here, we applied a validated algorithm that objectively categorizes disease severity into one of four categories—profound, severe, moderate, and mild—to 176 genes on a clinically available ECS panel. METHODS: Eight genetic counselors (GCs) working in pairs, followed by four medical geneticists (MDs) working in pairs, applied the algorithm to subsets of the 176 genes. RESULTS: Upon initial GC and MD review, 107/176 genes (61%) and 133/176 genes (76%), respectively, had concordant classifications, with consensus reached for all genes after collaborative review. Final severity classifications were 68 (39%) profound, 71 (40%) severe, 36 (20%) moderate, and one (1%) mild. No classification biases were detected within the GC or MD pairs. CONCLUSION: This study illustrates an approach to severity classification for large sets of Mendelian genes. The observed level of initial discordance demonstrates the complexity of severity and underscores the importance of collaboration involving multiple clinicians. Severity classification, in addition to other factors suggested by ACOG, is an important factor for laboratories to consider as they aim to design clinically valid ECS panels.

Background Disease severity is important when considering genes for inclusion on reproductive expanded carrier screening (ECS) panels. We applied a validated and previously published algorithm that classifies diseases into four severity categories (mild, moderate, severe, and profound) to 176 genes screened by ECS. Disease traits defining severity categories in the algorithm were then mapped to four severity-related ECS panel design criteria cited by the American College of Obstetricians and Gynecologists (ACOG). Methods Eight genetic counselors (GCs) and four medical geneticists (MDs) applied the severity algorithm to subsets of 176 genes. MDs and GCs then determined by group consensus how each of these disease traits mapped to ACOG severity criteria, enabling determination of the number of ACOG severity criteria met by each gene. Results Upon consensus GC and MD application of the severity algorithm, 68 (39%) genes were classified as profound, 71 (40%) as severe, 36 (20%) as moderate, and one (1%) as mild. After mapping of disease traits to ACOG severity criteria, 170 out of 176 genes (96.6%) were found to meet at least one of the four criteria, 129 genes (73.3%) met at least two, 73 genes (41.5%) met at least three, and 17 genes (9.7%) met all four. Conclusion This study classified the severity of a large set of Mendelian genes by collaborative clinical expert application of a trait-based algorithm. Further, it operationalized difficult to interpret ACOG severity criteria via mapping of disease traits, thereby promoting consistency of ACOG criteria interpretation.

The American College of Obstetrics and Gynecology (ACOG) states that expanded carrier screening (ECS) is an acceptable strategy for carrier screening and that conditions selected for inclusion on ECS panels should meet several of the following criteria: 1. have a carrier frequency of 1 in 100 or greater, 2. have a well-defined phenotype, 3. have a detrimental effect on quality of life, 4. cause cognitive or physical impairment, 5. require surgical or medical intervention, 6. have an onset early in life, and 7. can be diagnosed prenatally. These criteria lack specificity, making them difficult to interpret. We drew from published, quantitative frameworks to clarify and operationalize each criterion, and then identified conditions that unambiguously met the criteria. Carrier frequencies were calculated from an internal database of more than 450,000 carriers of condition(s) on a 176-condition panel. “Well-defined phenotype” was defined by the ClinGen categorization of the strength of gene-disease association. The four severity-related criteria (criteria 3-6) were defined by the mapping of disease traits to each criterion by 12 independent board-certified genetics providers (genetic counselors and medical geneticists). The ability to be diagnosed prenatally was considered to be a feature of all monogenic conditions. It is unclear how many criteria ACOG deems acceptable to adhere to its statement that “several” criteria should be met. Therefore, the two conditions that ACOG currently recommends for panethnic carrier screening, cystic fibrosis (CF) and spinal muscular atrophy (SMA), were used to establish baseline thresholds. Both conditions have carrier frequencies greater than 1 in 100 in any ethnicity, have Definitive gene-disease associations, meet at least one severity-related criterion (CF met one and SMA met four), and can be diagnosed prenatally. 176 conditions were then analyzed using these thresholds: 40 had carrier frequencies greater than 1 in 100 in any ethnicity, 173 had Definitive gene-disease associations, 170 met at least one severity-related criterion, and all 176 could be diagnosed prenatally. Combining these thresholds yields a guidelines-compliant panel of 37 conditions (Table), with a combined carrier detection rate of 30.4% and an ARC detection rate of 1.0%. Relative to a 176-condition panel, the 37-condition panel would detect 84.6% of ARCs. Evidence-based application of the ACOG severity criteria resulted in the identification of a guidelines-compliant panel consisting of 37 conditions.

INTRODUCTION: Obtaining carrier screening results in a timely manner is important to support reproductive decision-making. Reproductive partners are typically tested in a sequential manner: the female is tested first and if a carrier, her partner is tested. This imposes workflow challenges due to the need for a subsequent visit to draw the partner’s sample, reducing the likelihood of the partner getting screened and hampering detection of at-risk couples. We implemented a “tandem reflex” strategy wherein both partners submit samples in tandem but are tested sequentially, with the second partner’s sample tested only if the first partner was found to be a carrier. METHODS: The time to delivery of a combined report was measured before and after implementation of the “tandem reflex” strategy. Comparison to a simultaneous strategy, ie, both partners samples tested as soon as they are received, is also reported. RESULTS: Before implementing the “tandem reflex” strategy, the average time for a sequentially tested couple to receive a report was 35 days (95th percentile 76 days, N=16,785 couples). After implementation, the average time was reduced to 15 days (95th percentile 25 days, N=1,132 couples). Among 13,161 couples tested simultaneously, 42% of females were negative for all tested conditions; in this scenario, the tandem reflex strategy would have reduced unnecessary testing because it would not have triggered testing of the male partner. CONCLUSION: The “tandem reflex” strategy time to receipt of a combined report by half, allowing for more timely reproductive and pregnancy management.

The size and reach of the genetic counseling profession have expanded on a global scale since the 1970s. Despite this growth, the profession of genetic counseling has remained demographically homogenous. Promoting a culture of inclusivity that supports visible and invisible diversity and leveraging that culture not only expands perspectives represented in the field, but also helps foster equity in genetic services. This report summarizes the formation, implementation, and outcomes of the 2019 Diversity and Inclusion Task Force (TF) of the National Society of Genetic Counselors (NSGC), including the group's responses to their allotted charges from the NSGC Board of Directors. The recommendations generated by the TF aim to aid in the (1) establishment of infrastructure for ongoing diversity, inclusion, and equity (DEI) work by collaborating with a DEI organizational expert and forming a DEI advisory group within the NSGC, (2) development of specific short‐term DEI initiatives, and (3) identification of seven areas of focus areas that must be addressed in order to create meaningful and measurable DEI improvements. The efficacy of these recommendations will depend on the consistency and creativity of implementation, shared responsibility, sufficient resources allocated to DEI initiatives, and measurable outcomes.

Early identification of those with BRCA-related Hereditary Breast and Ovarian Cancer Syndrome (HBOC) and Lynch syndrome has the potential for early cancer detection and/or prevention; as such, these conditions are considered Tier 1 genetic conditions by the U.S. Center for Disease Control and Prevention. Given the decreasing cost of genetic testing, population-based screening (PBS) for such conditions may be the next step toward cancer prevention. This study aimed to understand genetic counselors' perspectives toward offering PBS for the Tier 1 conditions BRCA-related HBOC and Lynch syndrome. An online survey was distributed to 3,609 members of the National Society of Genetic Counselors. A total of 367 individuals participated in the study. Fifty percent of respondents felt that PBS for inherited cancer should not be offered; 93.3% felt that the current healthcare system is unprepared for implementation of PBS. However, most respondents agreed that PBS should be implemented within the next 10 years. Attitudes toward offering PBS were associated with respondents' work setting, cancer specialization, and perceived preparedness (p's < 0.05). The most commonly reported barriers to the implementation of PBS were shortage of genetic professionals and lack of infrastructure. Data in this study provide evidence that infrastructural barriers and educational gaps of non-genetic professionals would need to be addressed before successful integration of PBS into the healthcare system.