National Society Of Genetic Counselors Research Articles

The mentee report: outcomes from implementing a mentorship program for international genetic counseling applicants.

The first genetic counseling (GC) graduate training program was established in the United States (U.S.) in 1969 and GC is an emerging field of healthcare in many countries. Each year, at least 7% of applicants to U.S.-based GC graduate programs come from countries outside the U.S. ("international GC applicants''). To address the unique needs of international GC applicants, volunteers from the International Special Interest Group (ISIG) of the National Society of Genetic Counselors (NSGC) launched a semi-structured mentorship program (the "International Genetic Counseling Mentorship Program'' (IGCMP)) in 2021, which provides individualized mentorship and optional group activities for networking and learning. Fifty-two people from 19 countries signed up for the IGCMP across three application cycles. Of these, 47 were eligible to participate as mentees, and most were interested in one-on-one virtual meetings with international GCs in the U.S. (n = 41/47, 87.2%). An assessment form was sent to 17 mentees who applied to GC graduate school after participating in the first or second cycle of the IGCMP. Of the 12 responses received, 10 (83.3%) reported being extremely satisfied with their individual mentor(s), and the one-on-one meeting with a mentor was considered helpful to both the application and interview process by nine (75.0%) respondents. Importantly, feedback about program improvement revealed an interest in connecting with additional international applicants and mentors and all respondents expressed interest in receiving mentorship throughout graduate school. Future directions include collaborating with other mentorship and graduate programs to further enhance support for international applicants.

Risk assessment and genetic counseling for hematologic malignancies-Practice resource of the National Society of Genetic Counselors.

Hematologic malignancies (HMs) are a heterogeneous group of cancers impacting individuals of all ages that have been increasingly recognized in association with various germline predisposition syndromes. Given the myriad of malignancy subtypes, expanding differential diagnoses, and unique sample selection requirements, evaluation for hereditary predisposition to HM presents both challenges as well as exciting opportunities in the ever-evolving field of genetic counseling. This practice resource has been developed as a foundational resource for genetic counseling approaches to hereditary HMs and aims to empower genetic counselors who encounter individuals and families with HMs in their practice.

Genetics healthcare providers' experiences counseling patients with results from consumer genomic testing.

Consumer genomic testing (CGT), including direct-to-consumer and consumer-initiated testing, is increasingly widespread yet has limited regulatory oversight. To assess the current state, we surveyed genetics healthcare providers' experiences with CGT. A retrospective survey about experiences counseling on CGT results was completed by 139 respondents recruited from the National Society of Genetic Counselors, Clinical Cancer Genomics Community of Practice, and genetics professional societies. Among respondents, 41% disagreed with the statement that potential benefits of CGT outweigh harms, 21% agreed, and 38% were undecided. A total of 94% encountered ≥1 challenge counseling CGT patients, including adverse psychosocial events (76%), incorrect variant interpretation (68%), and unconfirmed results (69%); unconfirmed results were more common among oncology providers (p = 0.03). Providers reporting higher total challenge scores (p = 0.004) or more psychosocial or interpretation challenges (p ≤ 0.01) were more likely to indicate CGT harms outweigh benefits. Those with higher CGT clinical volume were more likely to indicate benefits outweigh harms (p = 0.003). Additional CGT challenges included patient understanding and communication of results, false negatives, incorrect testing/care, and financial costs; seven respondents (6%) documented positive outcomes. Providers counseling CGT patients encounter psychosocial and medical challenges. Collaborations between regulators, CGT laboratories, providers, and consumers may help mitigate risks.

Parent-reported genetic counselor adherence to the NSGC practice resource for communicating a potential prenatal diagnosis: Impact on the Down syndrome diagnosis experience.

In 2011, the National Society of Genetic Counselors (NSGC) published practice resources about communicating a prenatal or postnatal diagnosis of Down syndrome (DS). However, the impact of GC adherence to those recommendations on patient experiences has been unknown. The objective of this analysis was to investigate perceived GC adherence to professional recommendations for delivering a DS diagnosis and the impact on parental diagnosis experiences and the information and support offered. Parents of children with DS born between 2016 and 2021 completed a survey distributed by 12 local DS organizations and the national DS Diagnosis Network to assess prenatal diagnosis experiences and the provision of support and information by health professionals. Participants were queried about whether their GC followed specific recommendations from the NSGC practice resource. Respondents were also invited to describe their diagnosis experience. An overall perceived adherence score was calculated (percentage of elements GC demonstrated/total number of elements). Open-ended responses were inductively coded by a GC and GC student to identify categories and to perform a sentiment analysis where 1 was completely negative, 2 was mixed/more negative, 3 was neutral, 4 was mixed/more positive, and 5 was completely positive. The GCs were blinded to participants' perceived adherence scores while performing the sentiment analysis. Of the 242 parents who completed the survey, 161 respondents answered questions about GC's perceived practice resource adherence. The median perceived adherence score was 42.9% (IQR 21.4-71.4)%. A total of 61 people provided an open-ended response about their prenatal diagnosis experience with a GC and were assigned a sentiment score. The median sentiment score was 3 (IQR 1-5). Kendall's Tau analysis showed that higher perceived practice resource adherence was associated with more positive sentiment scores. These results suggest that NSGC practice resource adherence may improve the prenatal diagnosis experiences of parents of children with DS and have the potential to improve counseling outcomes.

Reproductive genetic carrier screening in pregnancy: improving health outcomes and expanding access.

Reproductive genetic carrier screening (RGCS) serves to screen couples for their risk of having children affected by monogenic conditions. The included conditions are mostly autosomal recessive or X-linked with infantile orearly-childhood onset. Cystic fibrosis, spinal muscular atrophy, and hemoglobinopathies are now recommended by the American College of Obstetricians and Gynecologists (ACOG) for universal screening. Recommendations for further RGCS remain ethnicity based. The American College of Medical Genetics and Genomics and the National Society of Genetic Counselors in recent years have recommended universal expanded-panel RGCS and moving towards a more equitable approach. ACOG guidelines state that offering RGCS is an acceptable option, however it has not provided clear guidance on standard of care. Positive results on RGCS can significantly impact reproductive plans for couples, including pursuing invitro fertilization with preimplantation genetic testing, prenatal genetic testing, specific fetal orneonatal treatment, or adoption. RGCS is a superior approach compared to ethnicity-based carrier screening and moves away from single race-based medical practice. We urge the obstetrics and gynecology societies to adopt the guidelines for RGCS put forward by multiple societies and help reduce systemic inequalities in medicine in our new genetic age. Having national societies such as ACOG and theSociety for Maternal-Fetal Medicine officially recommend and endorse RGCS would bolster insurance coverage and financial support by employers for RGCS. The future of comprehensive reproductive care in the age of genomic medicine entails expanding access so patients and families can make the reproductive options that best fit their needs.

Exploring genetic counselors' practice of discussing clinical trials with patients

AbstractDespite concerted and accelerated efforts to increase the knowledge of medicine and disease via clinical studies, clinical trials continue to face low enrollment for all patient groups. The dissemination of the availability of clinical trials to individuals with or at risk for hereditary disorders is critical. This study acts as a foundation in determining an unexplored role of clinical trial discussion in genetic counseling practice. Board‐certified, patient‐facing genetic counselors in the United States were invited to participate in an anonymous survey via the National Society of Genetic Counselors. Between February and April 2022, 157 participants (N = 157) completed the survey on clinical trial discussion with patients, barriers, and facilitators to discussing clinical trials with patients, research experience, and demographics. Survey results identified that most respondents have discussed the availability of clinical trials with a patient (85%). Almost one‐third have previous research experience working for a clinical trial (30%). Most agreed that discussions of clinical trials are within the scope of genetic counseling (82%); however, one‐third were not comfortable discussing them with patients (34%). Respondents who know how to find specific clinical trials (p < 0.001) were reportedly more likely to be comfortable discussing clinical trials with their patients. In addition to clinical research exposure, this study suggests that further education and training is necessary for genetic counselors to learn how to find and identify specific clinical trials for their patients. In turn, we hope for this to increase genetic counselors' comfort of clinical trial discussion.

Genetic counseling for the dystrophinopathies-Practice resource of the National Society of Genetic Counselors.

The dystrophinopathies encompass the phenotypically variable forms of muscular dystrophy caused by pathogenic variants in the DMD gene. The dystrophinopathies include the most common inherited muscular dystrophy among 46,XY individuals, Duchenne muscular dystrophy, as well as Becker muscular dystrophy and other less common phenotypic variants. With increased access to and utilization of genetic testing in the diagnostic and carrier setting, genetic counselors and clinicians in diverse specialty areas may care for individuals with and carriers of dystrophinopathy. This practice resource was developed as a tool for genetic counselors and other health care professionals to support counseling regarding dystrophinopathies, including diagnosis, health risks and management, psychosocial needs, reproductive options, clinical trials, and treatment. Genetic testing efforts have enabled genotype/phenotype correlation in the dystrophinopathies, but have also revealed unexpected findings, further complicating genetic counseling for this group of conditions. Additionally, the therapeutic landscape for dystrophinopathies has dramatically changed with several FDA-approved therapeutics, an expansive research pathway, and numerous clinical trials. Genotype-phenotype correlations are especially complex and genetic counselors' unique skill sets are useful in exploring and explaining this to families. Given the recent advances in diagnostic testing and therapeutics related to dystrophinopathies, this practice resource is a timely update for genetic counselors and other healthcare professionals involved in the diagnosis and care of individuals with dystrophinopathies.

Genetic counselors' and community clinicians' implementation and perceived barriers to informed consent during pre-test counseling for hereditary cancer risk.

As demand for genetic cancer risk assessment (GCRA) continues to increase, so does the sense of urgency to scale up efforts to triage patients, facilitate informed consent, and order genetic testing for cancer risk. The National Society of Genetic Counselors outlines the elements of informed consent that should be addressed in a GCRA session. While this practice resource aims to improve health equity, research on how well the elements of informed consent are implemented in practice is lacking. This retrospective and prospective mixed-methods study assessed how adequately the elements of informed consent are addressed during pre-test GCRA among 307 community clinicians (CC) and 129 cancer genetic counselors (GC), and barriers they face to addressing these elements. Results revealed that more than 90% of both cohorts consistently addressed components of at least 5 of the 10 elements of informed consent during a pre-test consultation. Technical aspects and accuracy of the test and utilization of test results were the most similarly addressed elements. Notably, GCs more often review the purpose of the test and who to test, general information about the gene(s), and economic considerations whereas CCs more often review alternatives to testing. Both cohorts reported psychosocial aspects of the informed consent process as the least adequately addressed element. Time constraints and patient-related concerns were most often cited by both cohorts as barriers to optimal facilitation of informed consent. Additional barriers reported by CCs included provider lack of awareness, experience, or education, and availability of resources and institutional support. Findings from this study may contribute to the development of alternative delivery models that incorporate supplementary educational tools to enhance patient understanding about the utility of genetic testing, while helping to mitigate the barrier of time constraints. Equally important is the use of this information to develop continuing education tools for providers.

The State of National Institute of Health Awards for funding genetic counseling research, resources, and training over the past decade.

Research related to the practice of genetic counseling has historically been accomplished through student projects, small private grants, or as a part of a larger research study. Yet, recent initiatives supported by the National Society of Genetic Counselors and the National Human Genome Research Institute have recognized and promoted the need for additional genetic counseling research funding and training. In this study, we aimed to characterize awards from the United States' National Institutes of Health (NIH) over the past 10 years that support research related to genetic counseling. Asearch of the NIH RePORTER database conducted on April 25, 2022, using terms broadly related to genetic counseling, identified 3993 awards from fiscal years 2011 to 2022. After deduplication, 1231 grants were reviewed for screening. The final dataset included 43 awards of various types with the majority being research or R series grants [R01 (n = 17), R21 (n = 7)]. The remaining awards were Cooperative Agreements (U01, n = 6), intramural (Z-grants, n = 5), Center Core (P30, n = 2), Specialized Center (P50, n = 1), Career Development Award (K01, n = 1), Other Transactions (OT2, n = 1), Resource Program (G13, n = 1), and Research Training and Fellowship (T32, n = 1). Most grants were awarded between 2019 and 2022 (n = 24, 55.8%). The majority of awards were categorized as studies that included a comparison of different genetic counseling models (n = 23), outcomes of implementing genetic counseling (n = 11), core resources for genetic counselors (n = 5), and genetic counseling training programs (n = 4). Thirteen of the awards (30.2%) had a specific aim/goal/focus on underserved or underrepresented populations. The topics were predominantly related to cancer (n = 26). Nine awards were led or co-led by a genetic counselor (20.9%). Despite significant growth in genetic counseling research support from US-based funders over the past 3 years, major gaps related to funding exist, including that most award recipients are not genetic counselors.

Release of reclassified VUS results of now deceased patients to family members: Practices and opinions.

Variants of uncertain significance (VUS) are commonly identified in genetic testing. The rate at which a VUS is reclassified depends on multiple factors. However, as the amount of time it might take for a VUS to be reclassified varies, some patients with a VUS genetic testing result might have passed away before the VUS is reclassified. A VUS that is reclassified after the patient's death has clinical implications for the deceased patient's family members. The disclosure of reclassified VUS results for a deceased patient has complex legal and ethical implications. There are no established guidelines on how the reclassified VUS result for a deceased patient should be disclosed to at-risk relatives. An online survey was sent to members of the National Society of Genetic Counselors (NSGCs) to elicit practices and opinions regarding this issue. A total of 153 (4%) NSGC members completed the survey. Thirty-seven (24.2%) respondents reported having received a reclassified VUS for a deceased patient. Respondents were more likely to attempt disclosure if the variant was reclassified as pathogenic (93.5%) versus benign (76.5%), although the difference did not reach statistical significance (p = 0.06). Respondents more often reported the impact on family members (85.5%) than the decedent's right to privacy (15.0%) as extremely important when considering disclosure to family members. A legal mechanism to allow disclosure to relatives was supported by 70.6% of respondents and 97.4% felt the issue was important enough to pursue if such a process was in place. Only 9.8% of respondents supported a legal requirement of consent before disclosing to family members when a VUS is reclassified after the patient has passed away. Our results indicate that there is no consensus for how these results should be handled and a mechanism for disclosure of reclassified results to family members is supported.

Telesupervision in genetic counseling education during COVID-19 and beyond.

The COVID-19 pandemic led healthcare organizations to pivot to telemedicine, precipitating the shift to telesupervision, defined as supervision over video-conferencing platforms and telephone, for genetic counseling students. This study aimed to (1) characterize the impact of the COVID-19 pandemic on genetic counseling supervision, (2) ascertain genetic counseling supervisor experiences with telesupervision, and (3) examine the association between years of genetic counseling experience and preferences related to supervision modality. Certified genetic counselors were recruited through the National Society of Genetic Counselors (NSGC), Pennsylvania Association of Genetic Counselors (PAGC), and Association of Genetic Counseling Program Directors (AGCPD) listservs and by purposive sampling via emails to Genetic Counseling Program Directors in program-rich regions. An investigator-created survey was administered online to elicit descriptions of supervision during the pandemic, including modifications to rotations, changes to the number of students supervised, and mode of supervision preference. The survey was completed by 122 genetic counselors. The 54-question survey included multiple-choice, ranking, and open-ended questions. The majority (95.9%) of the participants were female, with an average age of 32 years. Most (86%) of participants reported changes in their supervision practices due to COVID-19, including sole use of telesupervision (54.4%), decreases in rotation lengths (25.4%), and delays in rotation start dates (24.6%). Interestingly, 19.3% (22/114) supervised more students than before the pandemic, and 18.4% (21/114) of participants supervised fewer students. Approximately two thirds (67.5%) of supervisors preferred supervising students in-person, while 2.6% preferred telesupervision, and 29.8% had no preference. Those who preferred to supervise in-person had fewer years of experience than those who had no preference (median = 4 years vs. median = 7 years respectively, Wilcoxonp-value = 0.0418, effect size rpb = 0.19, small). Given the persistence of telemedicine beyond the pandemic, telesupervision may be necessary to train genetic counseling students. However, additional research is needed to determine the effectiveness of telesupervision in facilitating student skill development and attainment of the Accreditation Council for Genetic Counseling (ACGC) Practice-Based Competencies (PBCs).

Effects of hypermobile Ehlers-Danlos syndrome patients on the workflow and professional satisfaction of genetic counselors.

The Ehlers-Danlos syndromes (EDS), a group of uncommon connective tissue disorders, are, paradoxically, an increasingly common referral to genetics specialists. Of the 13 types of EDS, the most common is hypermobile EDS (hEDS), which lacks a known genetic etiology and for which diagnosis is achieved via a robust set of clinical criteria. While previous investigations have characterized many clinical aspects of EDS as a syndrome and patients' lived experiences, a gap in the literature exists regarding clinicians' experience caring for these individuals. This study sought to understand the effects of hEDS patient referrals from genetic counselors' perspectives. To capture these novel views and values, we conducted semi-structured interviews with 15 participants who were members of the National Society of Genetic Counselors (NSGC) and had experience working with the hEDS patient population. Interview questions explored the frequency of hEDS referrals in their clinic, investigated their roles and responsibilities as genetic counselors when working with this population, analyzed their workflow for this indication, assessed the impacts on their professional satisfaction, and explored potential options for improving workflow and care for the hEDS patient population. Reflexive thematic analysis yielded four themes: (1) Referrals for hEDS have generally increased over time and many institutions have implemented new policies to control this influx, (2) genetic counselors' primary roles include education and addressing psychosocial matters for this population, (3) genetic counselors feel both rewarded and challenged by these referrals, and (4) genetic counselors call for more education and training on hEDS for all healthcare specialties. Our findings provide a better understanding of the goals of the hEDS patient referrals to genetics specialists and the opportunities and challenges those referrals present. Genetic counselors have specific training and skills in psychosocial counseling and communication, in some ways making them ideal care providers for this population. However, they are simultaneously a scarce resource and the complex medical issues presented by many patients with hEDS make multidisciplinary management essential. We conclude with potential avenues for improving interactions with this population.

Reproductive justice advocacy efforts among genetic counselors and family planning providers.

Throughout all areas of medical practice, genetic counselors (GCs) occupy a key position in promoting patients' personal autonomy while facilitating informed medical decision-making. This professional position aligns with the concept of reproductive justice. Previous literature has attempted to define reproductive advocacy in medicine as well as the potential intersection of genetic counseling and reproductive justice advocacy work, yet limited data exist regarding GCs' perceptions of their role and involvement in reproductive justice advocacy work. This study aimed to identify the perceptions and actions of GCs regarding reproductive justice advocacy measures, as well as explore motivating factors influencing their attitudes and behaviors. Family planning providers, who tend to prioritize reproductive justice and advocacy, were surveyed to be a comparison group. We distributed an anonymous online survey within the National Society of Genetic Counselors (NSGC) and the Society of Family Planning (SFP) consisting of a 10-item personality inventory and Likert scale questions exploring characteristics and behaviors regarding reproductive justice advocacy. Results from 252 eligible respondents were analyzed using descriptive statistics, Chi-square, and Mann-Whitney U analyses. NSGC members are significantly less involved in several areas of reproductive justice advocacy, including regular participation in advocacy efforts when compared to SFP members (p = 0.04). The most cited barrier to NSGC members' participation was feeling unsure how to become involved, a significant difference compared to SFP members (p = 0.01). Findings from this study, undertaken in the final days of Roe v. Wade, suggest that GCs want to be more involved in reproductive justice advocacy but are uncertain where to begin. Intersociety collaboration and intra-society promotion of grassroots reproductive justice efforts may reduce this perceived barrier and others like it.

The right not to know: Non-disclosure of primary genetic test results and genetic counselors' response.

As part of clinical genetic counseling practice, patients may request that their primary genetic test results be disclosed to someone else, such as a relative or referring provider, or request that results be disclosed to no one (non-disclosure). In making these requests, patients employ the ethical principle of the "right not to know," which argues that autonomous individuals can choose not to know relevant health information. Although the right not to know has been well-studied in medicine in general, and in the return of genomic secondary findings, we are not aware of other studies that have explored the return of primary genetic test results when patients request non-disclosure or disclosure to another individual. This study aimed to describe common clinical scenarios in which these requests occur, how genetic counselors respond, and what ethical considerations they employ in their decision-making process. We recruited participants from the National Society of Genetic Counselors' (NSGC) "Student Research Surveys and Reminders" listserv and conducted semi-structured interviews with 11 genetic counselors in the United States who described genetic counseling cases where this occurred. Interviews were transcribed and coded inductively, and themes were identified. Case details varied, but in our study data the requests for non-disclosure were most commonly made by patients with poor, often oncologic, prognoses who requested their test results be disclosed to a family member instead of themselves. Genetic counselors considered similar factors in deciding how to respond to these requests: patient autonomy, medical actionability of results for the patient and family, the relationship between the patient and the person to whom results might be disclosed, and legal or practical concerns. Genetic counselors often made decisions on a case-by-case basis, depending on how relevant each of these factors were. This study adds to the growing body of literature regarding patients' "right not to know" and will hopefully provide guidance for genetic counselors who experience this situation in clinical practice.

Genetic counseling in diabetes mellitus: A practice resource of the National Society of Genetic Counselors.

Diabetes mellitus is a group of diseases characterized by hyperglycemia and its consequences, affecting over 34 million individuals in the United States and 422 million worldwide. While most diabetes is polygenic and is classified as type 1 (T1D), type 2 (T2D), or gestational diabetes (GDM), at least 0.4% of all diabetes is monogenic in nature. Correct diagnosis of monogenic diabetes has important implications for glycemic management and genetic counseling. We provide this Practice Resource to familiarize the genetic counseling community with (1) the existence of monogenic diabetes, (2) how it differs from more common polygenic/complex diabetes types, (3) the advantage of a correct diagnosis, and (4) guidance for identifying, counseling, and testing patients and families with suspected monogenic diabetes. This document is intended for genetic counselors and other healthcare professionals providing clinical services in any setting, with the goal of maximizing the likelihood of a correct diagnosis of monogenic diabetes and access to related care.

Preparedness and training of genetic counselors practicing in inpatient settings.

As rapid genomic testing technology increasingly allows for real-time answers that could alter management for acutely ill patients, opportunities for genetic counselors to work in inpatient settings will increase. However, genetic counselors' preparedness and the training provided by graduate programs to work in inpatient settings are unknown. We conducted semi-structured interviews with 13 genetic counselors who provided services in varied inpatient settings to assess genetic counselors' readiness for inpatient positions. We also surveyed members of the Association of Genetic Counseling Program Directors (AGCPD) about inpatient training practices of genetic counseling graduate programs. Genetic counselors were recruited through the National Society of Genetic Counselors (NSGC) Inpatient Special Interest Group listserv and graduate program faculty were recruited through the AGCPD listserv. Some challenges reported by genetic counselors in inpatient settings included working in a fast-paced hospital environment which necessitated focused interactions with patients; collaborating with diverse providers who may not understand the role of genetic counselors; and navigating grief experiences of families and of themselves as a provider. Although genetic counselors felt that many of their skills developed in graduate school were transferrable to the inpatient setting, those who had minimal or no inpatient exposure in graduate school often described feeling unprepared for working in the inpatient setting. The majority of AGCPD respondents (23/28) indicated their program provided some type of exposure to the inpatient setting for students, the most common (22/23) being an inpatient clinical rotation, which suggests many graduate programs are already recognizing the importance of providing inpatient training. Our findings indicate that while many skills are transferrable to inpatient positions, genetic counselors face unique challenges in inpatient settings. Our results suggest that graduate exposure to the inpatient setting and professional support of inpatient genetic counselors are beneficial to support genetic counselors' preparedness to take on inpatient positions.

Creation and initial validation of a genetic counseling supervisory self-efficacy scale.

Fieldwork supervision is the "signature pedagogy" for training genetic counseling students, ensuring that students have the experience necessary to become minimally competent genetic counselors. According to the National Society of Genetic Counselors 2022 Professional Status Survey, roughly 40% of genetic counselors serve as supervisors for genetic counseling graduate students. Despite fieldwork supervision being essential for training, there are currently no validated supervision skill assessment tools for genetic counseling fieldwork supervisors to use for professional development. While a self-efficacy scale for genetic counselors currently exists, a comprehensive self-efficacy scale for genetic counseling supervision skills does not. The purpose of the study was to develop and validate a genetic counseling supervisory self-efficacy scale (GCSSES). This study was comparative, quantitative, and cross-sectional, with data collected via an online questionnaire which assessed supervision self-efficacy (95 items), derived from 154 published GC supervision competencies, demographics (5), experience (9), and supervisory development (18), using the Psychotherapy Supervisory Development Scale (PSDS). A total of 119 board-certified genetic counselors completed the survey. Factor analysis eliminated 40 items due to insufficient factor loading, and item-item correlation eliminated one item with elevated inter-item correlation, leaving 54 items on the finalized GCSSES. Exploratory factor analysis derived four GCSSES factors, which accounted for 65% of the variance in the scale: (a) Goal Setting, Feedback, and Evaluation; (b) Complex Aspects of Supervision; (c) Conflict Resolution; and (d) Working Alliance. Preliminary analyses show the GCSSES has high reliability and internal consistency (Cronbach's alpha = 0.99). Positive correlations between experience variables and supervisory self-efficacy were identified. A 54 item GCSSES was developed by this study. The GCSSES may serve as a tool for genetic counseling supervisors and graduate programs to assess skills, monitor professional development, and target training. A genetic counseling supervisory self-efficacy scale can also be used in future studies regarding training of genetic counseling supervisors.

Expanded carrier screening for reproductive risk assessment: An evidence-based practice guideline from the National Society of Genetic Counselors.

Expanded carrier screening (ECS) intends to broadly screen healthy individuals to determine their reproductive chance for autosomal recessive (AR) and X-linked (XL) conditions with infantile or early-childhood onset, which may impact reproductive management (Committee Opinion 690, Obstetrics and Gynecology, 2017, 129, e35). Compared to ethnicity-based screening, which requires accurate knowledge of ancestry for optimal test selection and appropriate risk assessment, ECS panels consist of tens to hundreds of AR and XL conditions that may be individually rare in various ancestries but offer a comprehensive approach to inherited disease screening. As such, the term "equitable carrier screening" may be preferable. This practice guideline provides evidence-based recommendations for ECS using the GRADE Evidence to Decision framework (Guyatt et al., BMJ, 2008, 336, 995; Guyatt et al., BMJ, 2008, 336, 924). We used evidence from a recent systematic evidence review (Ramdaney et al., Genetics in Medicine, 2022, 20, 374) and compiled data from peer-reviewed literature, scientific meetings, and clinical experience. We defined and prioritized the outcomes of informed consent, change in reproductive plans, yield in identification of at-risk carrier pairs/pregnancies, perceived barriers to ECS, amount of provider time spent, healthcare costs, frequency of severely/profoundly affected offspring, incidental findings, uncertain findings, patient satisfaction, and provider attitudes. Despite the recognized barriers to implementation and change in management strategies, this analysis supported implementation of ECS for these outcomes. Based upon the current level of evidence, we recommend ECS be made available for all individuals considering reproduction and all pregnant reproductive pairs, as ECS presents an ethnicity-based carrier screening alternative which does not rely on race-based medicine. The final decision to pursue carrier screening should be directed by shared decision-making, which takes into account specific features of patients as well as their preferences and values. As a periconceptional reproductive risk assessment tool, ECS is superior compared to ethnicity-based carrier screening in that it both identifies more carriers of AR and XL conditions as well as eliminates a single race-based medical practice. ECS should be offered to all who are currently pregnant, considering pregnancy, or might otherwise biologically contribute to pregnancy. Barriers to the broad implementation of and access to ECS should be identified and addressed so that test performance for carrier screening will not depend on social constructs such as race.

Clinical genetic counseling and translation considerations for polygenic scores in personalized risk assessments: A Practice Resource from the National Society of Genetic Counselors.

Polygenic scores (PGS) are primed for use in personalized risk assessments for common, complex conditions and population health screening. Although there is growing evidence supporting the clinical validity of these scores in certain diseases, presently, there is no consensus on best practices for constructing PGS or demonstrated clinical utility in practice. Despite these evidence gaps, individuals can access their PGS information through commercial entities, research programs, and clinical programs. This prompts the immediate need for educational resources for clinicians encountering PGS information in clinical practice. This practice resource is intended to increase genetic counselors' and other healthcare providers' understanding and comfort with PGS used in personalized risk assessments. Drawing on best practices in clinical genomics, we discuss the unique considerations for polygenic-based (1) testing, (2) clinical genetic counseling, and (3) translation to population health services. This practice resource outlines the emerging uses of PGS, as well as the critical limitations of this technology that need to be addressed before wide-scale implementation.

Elective genomic testing: Practice resource of the National Society of Genetic Counselors.

Genetic counseling for patients who are pursuing genetic testing in the absence of a medical indication, referred to as elective genomic testing (EGT), is becoming more common. This type of testing has the potential to detect genetic conditions before there is a significant health impact permitting earlier management and/or treatment. Pre- and post-test counseling for EGT is similar to indication-based genetic testing. Both require a complete family and medical history when ordering a test or interpreting a result. However, EGT counseling has some special considerations including greater uncertainties around penetrance and clinical utility and a lack of published guidelines. While certain considerations in the selection of a high-quality genetic testing laboratory are universal, there are some considerations that are unique to the selection of a laboratory performing EGT. This practice resource intends to provide guidance for genetic counselors and other healthcare providers caring for adults seeking pre- or post-test counseling for EGT. Genetic counselors and other genetics trained healthcare providers are the ideal medical professionals to supply accurate information to individuals seeking counseling about EGT enabling them to make informed decisions about testing and follow-up.