Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group.

About 37 million people in the United States have chronic kidney disease, a disease that encompasses diseases of multiple causes. About 10% or more of kidney diseases in adults and about 70% of selected chronic kidney diseases in children are expected to be explained by genetic causes. Despite the advances in genetic testing and an increasing understanding of the genetic bases of certain kidney diseases, genetic testing in nephrology lags behind other medical fields. More understanding of the benefits and logistics of genetic testing is needed to advance the implementation of genetic testing in chronic kidney diseases. Accordingly, the National Kidney Foundation convened a Working Group of experts with diverse expertise in genetics, nephrology, and allied fields to develop recommendations for genetic testing for monogenic disorders and to identify genetic risk factors for oligogenic and polygenic causes of kidney diseases. Algorithms for clinical decision making on genetic testing and a road map for advancing genetic testing in kidney diseases were generated. An important aspect of this initiative was the use of a modified Delphi process to reach group consensus on the recommendations. The recommendations and resources described herein provide support to nephrologists and allied health professionals to advance the use of genetic testing for diagnosis and screening of kidney diseases.

What do cancer genetic providers want us to know about variant reclassification and recontact that we are not asking? A thematic analysis of open-ended survey responses.

BACKGROUND: Accurate variant classification and relaying reclassified results to patients is critical for hereditary cancer care delivery. Over a 5- to 10-year period, 6%-15% of variants undergo reclassification. As the frequency of reclassifications increases, the issue of whether, how, when, and which providers should recontact patients becomes important but remains contentious. METHODS: The authors used inductive thematic analysis to analyze open-ended comments offered by oncologists and genetic counselors (GCs) from a large national survey. RESULTS: Of the 634 oncologists and cancer GCs, 126 (20%) offered substantive free-text comments. Four thematic areas emerged: 1) ambiguity over professional responsibility to recontact, 2) logistical challenges with recontact, 3) importance of inter-institutional communication, and 4) suggested solutions. Some oncologists felt that laboratories, not them, are responsible for recontact; others believed that ordering providers/GCs were responsible; GCs readily acknowledged their own responsibility in recontact but added important caveats. Besides the lack of up-to-date patient contact information, providers raised unique challenges with recontact: financial instability of laboratories, lack of clinical resources, contacting family members, and accumulating burden of reclassifications. There were numerous calls for developing practice guidelines on prioritizing variants for recontact and discussion on whether duty for recontact may be fulfilled via unidirectional, low touch modalities. Potential solutions to recontact including national databases and patient facing databases were discussed. CONCLUSIONS: The authors confirm previous themes of stakeholder opinions and add previously unreported contextual details to qualify those themes. Clarifying provider responsibilities through professional guidelines for reclassification and recontact addressing the subthemes identified here will better serve all constituencies.

The Effects of National Insurance Coverage Expansion and Genetic Counseling's Role on BRCA1/2 Mutation Tests in Breast Cancer Patients.

PURPOSE: This study aims to evaluate the impact of South Korea's national insurance coverage (NIC) expansion and the addition of genetic counselors on BRCA1/2 mutation testing rates in breast cancer patients. MATERIALS AND METHODS: A retrospective review was conducted at the Samsung Medical Center (SMC), dividing patients into three groups: pre-NIC expansion, post-NIC expansion, and post-extra genetic counselor involvement. The number of BRCA1/2 tests performed and the detection rates among newly diagnosed and follow-up patients, particularly focusing on triple-negative breast cancer (TNBC) cases, were analyzed. RESULTS: Post-NIC expansion, there was a significant increase in BRCA1/2 testing rates, with a gradual rise in detection rates while maintaining statistical significance. TNBC patients under 60 experienced substantial increases in testing rates. The number of follow-up patients recalled for testing also rose significantly after the extra genetic counselor involvement. Additionally, NIC expansion increased insurance coverage for TNBC patients, enhancing accessibility to testing. CONCLUSION: The study highlights the positive impact of NIC expansion and genetic counselor involvement on BRCA1/2 mutation testing rates and subsequent patient management. Addressing financial barriers to testing and incorporating genetic counseling significantly improve patient outcomes. This model provides a potential strategy for enhancing early detection and personalized treatment for breast cancer patients with BRCA1/2 mutations, contributing to global cancer management efforts.

Interprofessional collaboration in the cardiovascular management of Marfan syndrome: A qualitative study based on interviews with professionals.

BACKGROUND AND AIM: Patients with Marfan syndrome, who present with a variety of symptoms and complex psychosocial problems, require interprofessional collaboration in their care. However, it is unclear how health care providers contribute to interprofessional collaboration for these patients. The purpose of this study was to determine the characteristics of interprofessional collaboration for patients with Marfan syndrome in the cardiovascular field. METHODS: Semi-structured interviews were conducted with health care specialists (5 physicians, 2 nurses, and 3 certified genetic counselors) were analyzed qualitatively. RESULTS: Based on the medical collaboration for the management of cardiovascular complications in patients and their relatives, interprofessional collaboration was identified, such as collaboration and cooperation between physicians and certified genetic counselors, and nursing practice to facilitate interprofessional collaboration. In addition, issues such as difficulties in dealing with and coordinating medical care for noncardiovascular complications, lack of specialist physicians, and lack of opportunities to collaborate with nurses were identified. CONCLUSIONS: Effective interprofessional collaboration requires the acquisition of Marfan syndrome and genetic knowledge by healthcare providers and the development of a healthcare delivery system based on departments that can provide leadership. In addition, the assignment of nurses to work across organizational boundaries and effective collaboration between genetic counselors and nurses should be considered.

Embedding simulation in genetic counselor education from the first week of training: Learning outcomes, standardized clients, and students' satisfaction.

Health professional educators routinely utilize simulation to prepare students for practice. However, there is little evidence to show whether simulation enhances learning for genetic counseling students. This study aimed to (i) develop simulation learning outcomes and standardized clients for genetic counselor student education and (ii) evaluate students' experiences of learning from face-to-face and virtual simulation in the first week of training in an Australasian master of genetic counseling program. Using the principles of co-design, eight experienced genetic counselors from across Australasia attended an online discussion and one-to-one meetings to develop simulation learning outcomes and build detailed authentic standardized clients. Six learning outcomes were identified: establishing an effective counseling relationship, eliciting information, assessing need, delivering difficult news and helping clients cope with complex emotions, effective communication and facilitating adaptation. Standardized clients were mapped to the learning outcomes and other requirements of the program. Between 2019 and 2022, 106 first year students participated in face-to-face or virtual simulation workshops with two standardized clients on Day 5 of their training. Following the experience, 103 students completed an anonymous survey using a modified version of a validated satisfaction with simulation scale (n = 49 face-to-face in 2019 and 2020 and n = 54 virtual in 2021 and 2022). Responses were analyzed using descriptive statistics and content analysis. Mean satisfaction overall was 95.9% (SD 3.5), 96.2 (SD 4.0) face-to-face, and 95.8 (SD 3.7) virtual. Overall, responses indicated that simulation-based learning and working with standardized clients was a valuable learning experience (100%), developed communication skills and created a sense of reality (99%). For a minority of participants (n = 4), the simulation was too challenging. Key learning related to consolidation of counseling skills, reflective practice, and preparation for clinical placement. In conclusion, exposing novice student genetic counselors to authentic clinical scenarios using standardized clients in face-to-face or virtual classrooms enhanced clinical learning.

Refining the activities of genetic assistants: Development of task statements applicable across practice settings.

Although genetic (counseling) assistants (GAs) have been implemented in many institutions, their roles vary widely. Therefore, this study aimed to refine our knowledge of GA tasks across work settings and specialties. Tasks performed by GAs were extracted from peer-reviewed articles, publicly available theses, and job postings, then analyzed using directed content analysis. Briefly, task statements were coded using broad categories from previous studies, with new categories added as emergent. Coded tasks were combined and condensed to produce a final task list, which was reviewed by subject matter experts. Sixty-one task statements were extracted from previous studies and 335 task statements were extracted from job descriptions. Directed content analysis produced a list of 40 unique tasks under 10 categories (8 from original research and 2 from the data). This study design resulted in a refined list of GA tasks that may be applicable across work settings and specialties, which is an essential step towards defining the scope of GA work. Beyond the human resource applications of the refined task list, this work may also benefit genetics services by reducing role overlap, improving efficiencies, improving employee satisfaction, and informing the development/improvement of training and other educational materials.

Massive open online courses (MOOCs) in genomic variant interpretation: An innovative education strategy for the growing genetic counselor workforce.

The growth in genomic testing in healthcare requires a highly trained specialist workforce to ensure evidence based clinical germline variant interpretation. Genetic counselors form a core part of the clinical genomics multidisciplinary team (MDT) and represent a growing workforce participating in variant interpretation from data analysis to the patient consultation. Standardized, high-quality variant interpretation training for Genetic Counselors has historically been ad hoc and variable, with existing programs lacking capacity to reach the entire workforce. To address the requirement for scalable variant interpretation training for genomics healthcare professionals (HCPs), two Massive Open Online Courses (MOOCs) were developed. We analyzed the data from 17 Genetic counselors, as part of an evaluation cohort completing the first run of these MOOCs. Overall genetic counselors enjoyed the courses, felt they were clinically relevant and would recommend them to colleagues. Common challenges amongst the genetic counseling workforces included utilizing relevant databases and finding time in the workday to complete training. These findings suggest MOOCs could be an acceptable option to ensure a consistent and transferrable high standard of training, complimentary to existing curricula. They also hold the potential to facilitate large-scale education to update the genetic counseling workforce when changes in variant interpretation guidance occur.

Exploring the evolving roles of clinical geneticists and genetic counselors in the era of genomic medicine.

The increased utilization of clinical genomic sequencing in the past decade has ushered in the era of genomic medicine, requiring genetics providers to acquire new skills and adapt their practices. The change in workplace responsibilities of clinical/medical geneticists (CMGs) and genetic counselors (GCs) in North America, due to the evolution of genetic testing, has not been studied. We surveyed CMGs (n = 80) and GCs (n = 127) with experience in general/pediatric genetics to describe their current practice of clinical tasks and the change in regularity of performing these tasks over the past 5-10 years. Currently, complementarity of responsibilities between CMGs and GCs clearly exists but providers who have been in the field for longer have noted role changes. Trends indicate that fewer experienced CMGs perform physical exams and select genetic tests than before and fewer experienced GCs complete requisitions and write result letters. The frequency of CMGs and GCs who investigate genetic test results, however, has increased. This study provides insight into the changing landscape of clinical genetics practice. Our findings suggest that the roles and responsibilities of CMGs and GCs have shifted in the past decade.

Genetic counseling clinic model expansion: Impact on access for general genetics clinic.

Cincinnati Children's Hospital Medical Center (CCHMC) implemented a Genetic Counseling Clinic (GCC), where the appointment for a general genetics indication is conducted solely by a genetic counselor (GC). We conducted a retrospective chart review of 211 patient encounters scheduled in the GCC between January 1, 2022 and June 30, 2022 and collected patient demographics, wait time, appointment characteristics, referral indication, and clinical recommendations. To study impact on patient access, we compared patient demographics and appointment characteristics with 912 patient encounters scheduled in the General Genetics Clinic with a geneticist during the same time period. We found that there were not significant differences in patient demographics scheduled in the GCC as compared with the General Genetics Clinic with the exception of insurance type, where patients scheduled in the GCC were more likely to have private insurance. Patients scheduled in the GCC had a significantly shorter wait time, were more likely to complete their appointment, were more often new to the genetics division, and were more likely to be seen via telehealth (audio plus video or audio-only) as compared with patients scheduled in the General Genetics Clinic. The most common indications for patients scheduled in the GCC were post-test counseling (36.0%) followed by pre-test counseling and coordination of testing (22.3%), and first-line testing for autism, intellectual disability, and developmental delay (13.7%). Completed appointments in the GCC often resulted in the GC ordering genetic testing (67.5%). After genetic testing results were received, most patients (72.7%) did not require subsequent follow-up with the genetics division, thereby reducing burden to the medical genetics team. Our GCC increased access to genetic services and allowed GCs and clinical geneticists to better work at the top of their scope of practice.

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.

Defining Need Amid Exponential Change: Conceptual Challenges in Workforce Planning for Clinical Genetic Services.

Rapid growth in the volume of referrals to clinical genetics services in many countries during the past 15 years makes workforce planning a critical policy tool in ensuring that the capacity of the clinical genetics workforce is large enough to meet current and future needs. This article explores the distinctive challenges of workforce planning in clinical genetics and provides recommendations for addressing these challenges using a needs-based planning approach. Specifically, at least 3 features complicate efforts to estimate the need for clinical genetic services: the difficulty in linking many clinical genetic services to concrete health outcomes; the rapidly changing nature of genetic medicine, which creates intrinsic uncertainty about the appropriate level of service; and the heightened relevance of patient preferences in this context. Our recommendations call for needs-based planning studies to include an explicit definition of necessary care, to be flexible in considering nonhealth benefits, to err on the side of including services currently funded by health systems even when evidence about outcomes is limited, and to use scenario analysis and expert input to explore the impact of uncertainty about patients' preferences and future technologies on estimates of workforce requirements.

Evaluating attributes of a collaborative model of service delivery for hereditary cancer risk assessment.

The purpose of this nonrandomized study was to compare several attributes of hereditary cancer risk assessment using a collaborative model of service delivery. Arm 1 included patients seen in-person by a board-certified genetic counselor (CGC), Arm 2 included high-complexity triaged patients from distant sites who received telegenetics with a CGC, and Arm 3 included low-complexity triaged patients from distant sites who had in-person risk assessment with a locally placed genetic counselor extender (GCE). A total of 152 patients consented and 98 had complete data available for analysis (35 in Arm 1, 33 in Arm 2, and 30 in Arm 3). The three groups were comparable in age, ethnicity, education, employment, and cancer status. There was no significant difference in median wait time or distance traveled to receive care across all three arms. However, if patients in Arms 2 and 3 had to access the CGC in-person, they would have had to travel significantly further (p < 0.0001). The time spent in a session was significantly longer in Arm 3 with a GCE than with a CGC in-person or by telegenetics (p < 0.01). There was no difference in the number of essential elements covered in the appointment, change in cancer worry, or appointment satisfaction across all three arms, although the sample size was small. Employing a collaborative model of service delivery with GCEs and telegenetics is feasible, satisfactory to patients and reduces the distance patients travel to access hereditary cancer genetic services.

Psychological characteristics of Japanese patients and their family members receiving genetic counseling: A single-institute exploratory study.

In Japan, clinical genetic services became available in the 1970s, and genomic medicine, including genetic counseling (GC), developed rapidly. However, research on the outcomes of GC in Japan is limited. Japan has a unique cultural context, and appropriate GC methods have not yet been optimized for this population. The current study aimed to evaluate the psychological status of Japanese patients and their companions undergoing GC and the outcomes of GC. We used the Quality of Care Through the Patients' Eyes-gene cancer (QUOTE-geneCA ), the Genetic Counseling Outcome Scale-24 (GCOS-24), and the State-Trait Anxiety Inventory (STAI) to evaluate patients and their companions' needs and preferences regarding GC, empowerment, and anxiety, respectively. We evaluated stress status during GC by measuring saliva cortisol levels. QUOTE-geneCA results for patients (n = 69) and a group of patients and their companions (n = 96) revealed that participants felt that it was important that skilled medical staff explained medical information and provided advice in an easily understandable manner. Japanese patients and their companions regarded the procedural aspects of counseling as most important and their autonomy in decision-making as less important. GCOS-24 results revealed a significant increase in empowerment scores in 38 patients (by 9.63 points) from pre- to post-GC (p < 0.001; Cohen's d = 0.79). STAI results revealed a significant decrease in state anxiety for patients (6.11 points; p < 0.001; Cohen's d = 0.66). Cortisol levels in patients significantly decreased after GC (p = 0.001). The improvement of empowerment scores from pre- to post-GC among patients and their companions were significantly negatively correlated with pre-GC empowerment scores (p < 0.001), trait anxiety scores (p = 0.001), and the number of people living together (p = 0.011). The change of cortisol levels during GC in patients and their companions was significantly positively correlated with trait anxiety score (p = 0.027). This study suggested that these characteristics of Japanese patients and their companions may predict GC outcomes.

Evaluating a general pediatric/adult genetic counseling clinic in a Midwest medical center.

In 2018, the Munroe-Meyer Institute for Genetics & Rehabilitation (MMI) at the University of Nebraska Medical Center (UNMC) in Omaha, NE created a genetic counseling clinic (GCC) to increase access to genetics services and decrease the time spent between a referral and being seen in a general genetics outpatient clinic. In the GCC, genetic counselors led patient encounters and geneticists served as advisors, rather than primary providers. We conducted a chart review of 109 patients seen in the GCC from November 1, 2018, to March 16, 2020, and obtained information regarding patient demographics, indications, and clinical recommendations as a result of the visit. Most patients seen in this clinic were female (65.1%) and aged 19 years of age or older (54.1%). The primary indications for patients in this clinic included review genetic test results (42.2%), coordination of genetic testing for a known familial variant (30.2%), and concerns for personal or family history suspicious of a genetic condition without dysmorphic features (24.8%). The average patient wait time between referral date and appointment date in the GCC was 49.8 days. The two most common clinical recommendations made by genetic counselors in the GCC were genetic testing (56.1%) and/or follow-up with specialist (26.5%). These specialists primarily included endocrinology (n = 5), neurology (n = 4), cardiology (n = 4), ophthalmology (n = 3), and audiology (n = 3). We found that the GCC model may be appropriate for patients with (1) genetic test results requiring interpretation, (2) a known familial variant or (3) genetic testing recommended by a specialist physician. Descriptions of the indications and recommendations for patients seen in this GCC provide a framework for potential implementation of a GCC in other regions across the nation.

Assessing barriers to the career ladder and professional development for ethnic minority genetic counselors in the United States.

Ethnic diversity is not reflected within healthcare professions, including genetic counseling, where lack of growth and membership among minority colleagues extends to upper-level and executive roles. While diversity and inclusion-based topics have been emphasized, studies on potential barriers to career advancement in the field of genetic counseling have not received the same attention. Our study examined the current state of mentorship and sponsorship programs, the presence of diversity and inclusion initiatives, and opportunities for career advancement through the lens of a minority genetic counselor. Practicing genetic counselors in the United States identifying as part of any racial group, other than non-Hispanic White alone, were recruited through the Minority Genetics Professionals Network for survey participation. A 31-item survey was fully completed by 19 practicing genetic counselors from a variety of ethnic backgrounds. Data were analyzed using descriptive statistics and thematic analysis, allowing for individual stories and accounts to be amplified. Results showed 16 of 19 participants had never been promoted in their current employment setting. Additionally, 7 out of 19 respondents disagreed or strongly disagreed that their company had a commitment to an ethnically diverse workforce within upper-level positions. Prominent themes identified from open-ended responses included lack of social connection with supervisors and the cross-race effect, a term referencing a tendency for individuals to better recognize members of their own race or ethnicity than others. Additional themes revealed feelings of isolation, need for support from White colleagues, as well as desired emphasis on sponsorship tailored toward professional growth. These findings demonstrate a need for proactive involvement in reaching ethnic and racial minority genetic counselors through companywide policy efforts, support and advocacy from White colleagues, and modification of cultural perception frameworks. Further focus and emphasis on these distinct but critical topics may be important in promoting increased diversity in upper-level positions in the field of genetic counseling.

Retrospective comparison of parent-reported genetics knowledge, empowerment, and familial uptake of cardiac screening between parents who received genetic counseling by a certified genetic counselor and those who did not: A single US academic medical center study.

Bicuspid aortic valve (BAV) is the most common congenital heart defect, which can cause severe cardiac complications. BAVs cluster in families and demonstrate high heritability. Cardiac screening for first-degree relatives of individuals with a BAV is recommended. This retrospective two-group study evaluated the impact of cardiovascular genetic counseling provided by a board-certified genetic counselor on parent-reported outcomes by comparing parental responses of those who received genetic counseling by a genetic counselor (GC group) for family history of BAV to those who did not (non-GC group). A retrospective chart review from May 2016 to June 2019 identified 133 pediatric patients with an isolated BAV. Parents of eligible probands were invited to complete an online survey assessing genetics knowledge, empowerment (Genomics Outcome Scale), and familial uptake of cardiac screening. Surveys were completed by 38/97 (39%) parents in the non-GC group and 20/36 (56%) parents in the GC group. The median genetics knowledge score was not significantly different between the two groups (GC group: 8, range 3-11 out of a maximum possible of 12; non-GC group: 7, range 2-11; p = .08). The mean empowerment score was not significantly different between the two groups (GC group: mean 24.6, SD 2.2; non-GC group: mean 23.2, SD 3.5; p = .06). The uptake of cardiac screening was significantly higher in the GC group with 39/59 (66%) total first-degree relatives reported as having been screened compared with 36/91 (40%) in the non-GC group (p = .002). Parent-reported outcomes in our study suggest that receiving genetic counseling by a board-certified genetic counselor significantly increased familial uptake of cardiac screening for first-degree relatives of pediatric patients with a BAV. Studies with larger sample sizes are needed to confirm the findings of this study; however, a referral to a genetic counselor should be considered for patients with a BAV.

Following NCCN guidelines within one hospital system in the United States: Comparison between cancer centers and genetic counselor utilization.

Genetic testing is an instrumental tool used to determine whether an individual has a predisposition to certain cancers. Knowing of a hereditary cancer predisposition may allow a patient and their family to consider high-risk screening or risk-reducing options. Genetic counselors work with physicians to identify patients at increased risk for genetic testing using available guidelines such as those provided by the National Comprehensive Cancer Network (NCCN). Information within one hospital system's cancer registry was used to identify individuals who qualify for genetic testing. This includes patients with a history of cancer of the breast (diagnosis ≤45, triple negative (TN) ≤60, and male), ovaries, colon (diagnosis ≤50), or uterus (diagnosis ≤50). Within this hospital system's registry, there are six cancer centers. Data were collected from cancer centers that utilized genetic counselors (GCs), and cancer centers that did not (non-GC) to determine whether there was a difference in genetic testing rates between GC and non-GC cancer centers. An analysis of 695 patients demonstrated a significantly higher proportion of eligible patients undergoing genetic testing at the GC cancer centers than at the non-GC cancer centers (91.6% versus 68.7%, p < .001). Further analysis of specific cancers showed a significantly higher uptake of genetic testing for eligible patients with colon cancer (90.8% versus 50%, p < .001), breast cancer ≤45 (99.5% versus 86%, p < .001), and ovarian cancer (91.3% versus 62.8%, p < .001) at the GC cancer centers than at the non-GC cancer centers. There was no significant difference in the proportion of testing of TN breast cancer ≤60 or uterine cancer ≤50 between cancer centers. These data suggest that having a GC working within a cancer center increases the ability to identify and offer testing to patients who meet NCCN genetic testing criteria based on their cancer type.