Leveling the field: Development of an asynchronous interactive module series for genetic counseling trainees on molecular testing and variant interpretation.

The need for education focusing on genomic technologies and variant interpretation for genetic counseling trainees has prompted genetic counseling training programs to alter their curricula to incorporate this content. Given students' diverse experiences prior to matriculation into genetic counseling training programs, students' familiarity with these topics may vary. Following receipt of feedback from trainees at a large genetic counseling program regarding an existing course focused on molecular technologies, a three-part asynchronous module series was created as a prerequisite to this course as an opportunity to align knowledge. Designed to be completed by students on their own time and at their own pace, the modules allowed for additional instruction without increases in classroom time or credit hours. Content included a refresh on genetics concepts and an introduction to available genetics resources for developing a differential diagnosis as well as variant interpretation framework. Modules utilized a clinical scenario to anchor learning with interactive content, allowing students to progress at their own pace and explore content as they found necessary. Completion of this asynchronous module series was required by incoming first-year students prior to the start of the academic semester. Following completion, students were asked to provide feedback on the module series. Reviews were primarily positive with students indicating that while the content was not entirely new, they found the review valuable and would be likely to reference the modules later in their genetic counseling training. Areas identified for improvement included additional detail regarding genetic testing methods as well as adjusting the interactive content to ensure accessibility for all students and systems. Taken together, the development and implementation of this asynchronous series as an additional component to genetic counseling training was considered a success and this approach can be considered to address additional topics dependent on a programs' needs.

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).

The influence of licensure on ABGC certification examination outcomes.

The genetic counseling field established ABGC certification and state licensure as professional standards for practice. All current state licensure laws require passing the ABGC certification examination, although states differ in their requirements regarding how soon after graduation the examination must be taken. Graduates in states without licensure can schedule the certification examination at their preference. This study explores the influence of licensure requirements on timing to take the examination and likelihood of passing the examination. Genetic counselors who graduated between 2017 and 2021 were invited to complete a 20-question survey that included demographic information, first-time pass rates, year of graduation and the month and year they took the certification examination. Usable responses were received from 246 genetic counselors who responded to the survey, a minimum response rate of 12.9%. Participants were largely female (92.7%), white (88.6%), and almost evenly divided between those whose first job was in a state with licensure (56.3%) and one without licensure (43.7%). Those who worked in states with licensure took the examination significantly sooner than those who worked in states without licensure (p = 0.028) and were 2.4 times more likely to fail the first attempt [95% CI = 1.08-5.49]). When asked about personal preference on timing of the examination, those who "would have waited if there were no licensure requirement" were almost 7 times more likely to fail the first attempt (RR = 6.81, 95% CI = 3.10-14.97). This study identified an association between state licensure requirements, genetic counselors' timing of taking the ABGC examination, and their examination performance. The data suggest that the element of choice is an important factor in pass rates. New graduates need to be aware of state-specific licensure laws' impact on their ability to choose when to take the examination.

Incorporating telehealth education into the genetic counseling curriculum.

As the provision of telehealth genetic counseling (THGC) services continues to expand, it is imperative that genetic counseling students gain proficiency in telehealth service delivery. To prepare students to provide THGC services, the MSGC program at the University of Pennsylvania has included didactic sessions on THGC, THGC role plays, THGC standardized patient sessions, and THGC fieldwork experiences and clinical rotations. This article highlights best practices in THGC and guidance for Master of Science in Genetic Counseling (MSGC) programs training the next generation of genetic counselors providing THGC services.

Paid summer undergraduate internships are one strategy to increase diversity in genetic counseling.

The genetic counseling profession has attempted to enhance the diversity of its workforce since its inception but does not yet reflect the demographics of the United States. One barrier to entry into genetic counseling programs may be the ability to gain exposure to the profession prior to applying for entry. Many applicants participate in unpaid shadowing experiences, which could be a limitation to students from underrepresented backgrounds who may be less familiar with the field or who cannot forgo a salary. To address this concern, the University of Pennsylvania Master of Science in Genetic Counseling Program developed a six-week, paid summer internship designed for undergraduates interested in genetic counseling and from underrepresented backgrounds in the field. Students were recruited via social media and word of mouth. Three undergraduates participated in the first year and four in the second year. Participants received lectures on basic topics in genetics and medical genetics, engaged in workshops and panel discussions, attended rounds and case conferences, interacted with genetic counseling mentors, and were able to shadow genetic counselors in the clinic. Benefits to the interns included enhanced appreciation for the field, development of connections with practicing genetic counselors, and development of connections with each other. The program received positive and constructive feedback and has been continued for future summers.

Comparing telemedicine and in-person gastrointestinal cancer genetic appointment outcomes during the COVID-19 pandemic.

BACKGROUND: The study purpose is to compare outcomes associated with completion of genetic testing between telemedicine and in-person gastrointestinal cancer risk assessment appointments during the COVID-19 pandemic. METHODS: Data was collected on patients with scheduled appointments between July 2020 and June 2021 in a gastrointestinal cancer risk evaluation program (GI-CREP) that utilized both telemedicine and in-person visits throughout the COVID-19 pandemic, and a survey was administered. RESULTS: A total of 293 patients had a GI-CREP appointment scheduled and completion rates of in-person versus telemedicine appointments were similar. Individuals diagnosed with cancer and those with Medicaid insurance had lower rates of appointment completion. Although telehealth was the preferred visit modality, there were no differences in recommending genetic testing nor in the consent rate for genetic testing between in-person and telemedicine visits. However, of patients who consented for genetic testing, more than three times more patients seen via telemedicine did not complete genetic testing compared to those seen in-person (18.3% versus 5.2%, p = 0.008). Furthermore, telemedicine visits had a longer turnaround time for genetic test reporting (32 days versus 13 days, p < 0.001). CONCLUSIONS: Compared to in-person GI-CREP appointments, telemedicine was associated with lower rates of genetic testing completion, and longer turnaround time for results.

Assessment of the Psychosocial Impact of Pancreatic Cancer Surveillance in High-Risk Individuals.

OBJECTIVES: Pancreatic cancer (PC) surveillance of high-risk individuals (HRIs) downstages PC and improves survival. However, it remains less clear whether PC surveillance has a positive psychosocial impact on HRIs. Herein, we aimed to define the attitudes and beliefs of HRIs undergoing PC surveillance, and the immediate and sustained psychosocial impact of PC surveillance in HRIs. METHODS: 100 HRIs undergoing PC surveillance by endoscopic ultrasound (EUS) completed three surveys addressing different components of the psychosocial impact of PC surveillance. Logistic regression analyses were performed to identify predictive factors relating to these components. RESULTS: Most HRIs reported increased perceived benefits of PC surveillance, self-efficacy, and perceived severity of PC. HRIs reported few negative emotions prior to surveillance and frequent positive emotions after surveillance. Compared to prior to surveillance, there was a 53.5% decrease in the level of distress reported by HRIs after surveillance, which was sustained for 4-6 weeks post-surveillance. Family history of PC and lower self-reported mental health were identified as predictors for increased perceived susceptibility to PC (p < 0.01) and greater change in distress pre- to post-surveillance (p < 0.01), respectively. CONCLUSIONS: Our findings suggest that PC surveillance can lead to sustained psychosocial benefits in HRIs.

Qualitative exploration of the lived experience of adults diagnosed with primary mitochondrial disease.

Primary mitochondrial disease (PMD) encompasses a heterogeneous group of energy deficiency disorders that are typically progressive, with affected individuals experiencing an average of 16 multisystem symptoms. Clinical trials are emerging, but current treatment options remain limited. In PMD, the effect of specific disease factors and their relationship to meaning-based coping has not been studied. Given the connection between prognostic uncertainty and psychological distress in other patient populations, we explored the lived experience of adults with PMD. Adults with PMD caused by pathogenic variant(s) in nuclear or mitochondrial genes impairing mitochondrial function were interviewed. Interview questions addressed the lived experience with PMD, diagnostic journey, practical learnings at the time of diagnosis, suggestions for supportive information to provide at diagnosis, diagnosis impact on daily living and self-care, and sources of support and hope. Focus group transcripts were analyzed using thematic analysis. Four themes (diagnostic challenges, adaptations to daily living, social implications, and meaning-based coping) and several subthemes (the importance of being hopeful and benefit finding) emerged. Most participants reported strong family support (9/14) and identified a benefit (9/14) derived from their PMD diagnosis, while (5/14) did not identify any benefits. Benefit finding, reframing, and maintaining a positive attitude emerged as common coping in adults living with PMD. Understanding how adults with PMD cope is essential to provide anticipatory guidance and ongoing support for those struggling with their disease diagnosis, progression, and broader life impact. Our findings suggest that adult PMD patients prefer healthcare providers to inquire about their emotional well-being and meaning based coping with PMD.

Uptake and outcomes of small intestinal and urinary tract cancer surveillance in Lynch syndrome.

BACKGROUND: Lynch syndrome (LS) is a hereditary cancer predisposition syndrome associated with increased risk of multiple cancers. While colorectal cancer surveillance decreases mortality in LS and is recommended by guidelines, there is lack of evidence for the efficacy of surveillance for extra-colonic cancers associated with LS, including small intestinal cancer (SIC) and urinary tract cancer (UTC). Given the limited evidence, guidelines do not consistently recommend surveillance for SIC and UTC, and it remains unclear how often individuals will choose to undergo and follow through with extra-colonic surveillance recommendations. AIM: To study factors associated with SIC and UTC surveillance uptake and outcomes in LS. METHODS: This is an IRB-approved retrospective analysis of individuals with LS seen at a tertiary care referral center. Included individuals had a pathogenic or likely pathogenic variant in MLH1, MSH2, MSH6, PMS2, or EPCAM, or were a confirmed obligate carrier, and had at least one documented visit to our center. Information regarding SIC and UTC surveillance was captured for each individual, and detailed personal and family history was obtained for individuals who had an initial LS management visit in our center's dedicated high-risk LS clinic between January 1, 2017 and October 29, 2020. During these initial management visits, all patients had in-depth discussions of SIC and UTC surveillance with 1 of 3 providers experienced in LS management to promote informed decision-making about whether to pursue SIC and/or UTC surveillance. Statistical analysis using Pearson's chi-squared test and Wilcoxon rank-sum test was completed to understand the factors associated with pursuit and completion of SIC and UTC surveillance, and a P value below 0.05 was deemed statistically significant. RESULTS: Of 317 individuals with LS, 86 (27%) underwent a total of 105 SIC surveillance examinations, with 5 leading to additional work-up and no SICs diagnosed. Additionally, 99 (31%) patients underwent a total of 303 UTC surveillance examinations, with 19 requiring further evaluation and 1 UTC identified. Of 155 individuals who had an initial LS management visit between January 1, 2017 and October 29, 2020, 63 (41%) chose to undergo SIC surveillance and 58 (37%) chose to undergo UTC surveillance. However, only 26 (41%) and 32 (55%) of those who initially chose to undergo SIC or UTC surveillance, respectively, successfully completed their surveillance examinations. Individuals with a pathogenic variant in MSH2 or EPCAM were more likely to initially choose to undergo SIC surveillance (P = 0.034), and older individuals were more likely to complete SIC surveillance (P = 0.007). Choosing to pursue UTC surveillance was more frequent among older individuals (P = 0.018), and females more frequently completed UTC surveillance (P = 0.002). Personal history of cancer and family history of SIC or UTC were not significantly associated with electing nor completing surveillance. Lastly, the provider discussing SIC/UTC surveillance was significantly associated with subsequent surveillance choices. CONCLUSION: Pursuing and completing SIC/UTC surveillance in LS is influenced by several factors, however broad incorporation in LS management is likely unhelpful due to low yield and frequent false positive results.

Characterizing standardized patients and genetic counseling graduate education.

Standardized patients (SPs) are laypersons trained to portray patients, family members, and others in a consistent, measurable manner to teach and assess healthcare students, and to provide practice for emotionally and medically challenging cases. SP methodology has been studied with practicing genetic counselors; however, there is minimal empirical evidence characterizing its use in genetic counseling (GC) education. The Accreditation Council for Genetic Counseling (ACGC) Standards of Accreditation for Graduate Programs in Genetic Counseling include SP sessions as one way to achieve up to 20% of the 50 participatory cases required for graduation. The purpose of the current project was to determine the scope, frequency, and timing of SP methodology in ACGC-accredited programs to establish baseline usage, which happened prior to the SARS-CoV-2 pandemic. A 40-item investigator-created survey was developed to document the scope and frequency of SP use among programs. The survey was distributed through the Association of Genetic Counseling Program Directors' (AGCPD) listserv to 43 accredited and 6 programs under development. Surveys were analyzed from 25 accredited programs (response rate = 58%). Seventeen of these programs report inclusion of SP methodology in the curricula (68%), of which 13 report working with an established SP program. SPs are used predominantly for role-plays (70.6%), individualized instruction and remediation (29.4%), and for other reasons such as lecture demonstration, final examinations, practicing skills, and assessing students' goals. Sixteen of the participating programs use SPs to give GC students experience disclosing positive test results. Other details vary among the GC programs including the use of trained SPs, volunteer or paid SPs, actors with and without SP training, or GC students acting as patients. This study demonstrates that GC program SP experiences differ, but are largely viewed as valuable by the programs. Many GC programs report using SP encounters to create multiple opportunities for students to practice and refine clinical skills similar to SPs in medical school.

Increasing diversity in the genetic counseling profession: Development of recruitment tools for African American undergraduate students.

Lack of diversity in the genetic counseling profession has been a concern for over 20 years, with the National Society of Genetic Counselors identifying increasing diversity and inclusion as a strategic focus in 2019. Previous research has revealed potential barriers that could explain the low number of diverse applicants to genetic counseling graduate programs. The aims of this pilot study were to test strategies for participation and site recruitment methods for Historically Black Colleges and Universities (HBCUs) and to evaluate the effectiveness of a brief presentation tailored to African American students. Recruitment emails were sent to career services and 124 biology/psychology department chairs from HBCUs and one predominately white institution with over 10% black student population. There was a 16% response rate through career services and a 25% response rate from department chairs. Different sections of a single biology class at one HBCU were randomly assigned to either attend a class presentation by an African American second-year genetic counseling student and given a brochure detailing the same information (presentation group), or receive a brochure only (brochure group). Ninety students participated in the study: 65 in the presentation group and 25 in the brochure group. All students completed a 10-question knowledge test and were given an email address for further student-initiated contact about genetic counseling. In the presentation group, 65% (42/65) completed the knowledge test with a mean score of 7.59/10. Only one student from the brochure group completed the knowledge test. No students initiated contact to receive additional information about genetic counseling. This study highlights the difficulties in reaching African American students, even through HBCUs. Strategies beyond the use of brochures and presentations will be necessary to attract African American students into the genetic counseling profession.

The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome.

Hypocalcemia has been reported in ~50% of patients 22q11.2DS and calcium regulation is known to play a role in neuronal development and synaptic plasticity. Because calcium ions play a role in neuronal function and development, we hypothesized that hypocalcemia would be associated with adverse effects on full scale IQ index (FSIQ) in patients with 22q11.2DS. A retrospective chart review cataloguing the presence or absence of hypocalcemia in 1073 subjects with a laboratory confirmed chromosome 22q11.2 deletion evaluated at the Children's Hospital of Philadelphia was conducted. 852/1073 patients had an endocrinology evaluation with laboratory confirmed calcium levels. 466/852 (54.7%) had a diagnosis of hypocalcemia. 265/1073 subjects ranging from 0 to 51 years of age had both calcium levels measured and a neuropsychological evaluation yielding a FSIQ. The mean FSIQ for 146/265 patients with hypocalcemia was 77.09 (SD = 13.56) and the mean FSIQ for 119/265 patients with normocalcemia was 77.27 (SD = 14.25). The distribution of patients with intellectual disability (ID) (FSIQ<69), borderline IQ (FSIQ 70-79), and average IQ (FSIQ>80) between the hypocalcemic and normocalcemic groups was not statistically significant (χ2 = 0.2676, p = 0.8748). Neonatal hypocalcemic seizures were not found to be associated with ID. We found no difference in FSIQ between the hypocalcemic and non-hypocalcemic patients with 22q11.2DS. As our findings differ from a previous report in adult subjects, we speculate that this may reflect a potential benefit from early treatment of hypocalcemia and may support early 22q11.2 deletion detection in order to offer prompt diagnosis and subsequent treatment of hypocalcemia.

Effects of Genetic Counselor Self-Disclosure: an Experimental Analog Study.

The complex nature of self-disclosure poses challenges for genetic counselors in clinical practice. We examined the impact of genetic counselor self-disclosure on observer perceptions of the counselor. In an online analog study, 123 participants watched a 3-minute video of a simulated genetic counseling session. For half the participants, the video showed the counselor disclosing that she had a family medical history similar to the patient (direct personal disclosure). For half the participants, the counselor revealed her experience with other patients (direct professional disclosure). Half the participants in each video condition read that the patient had discovered personal information about the counselor during a pre-session web search (indirect personal disclosure); half read that the patient learned of the counselor's FAQ webpage for prospective patients (indirect professional disclosure). Participants in the direct personal disclosure conditions gave higher ratings to the counseling relationship on an abbreviated version of the Barrett-Lennard Relationship Inventory and rated themselves more likely to see the counselor compared to those in the direct professional disclosure conditions. The content of the indirect disclosure conditions (personal or professional) had no effect. Brief, direct, verbal disclosure of session-relevant personal information by a genetic counselor appears to enhance the counselor-patient relationship and increase the likelihood of patients returning to the counselor.

Association of airway abnormalities with 22q11.2 deletion syndrome.

INTRODUCTION: 22q11.2 deletion syndrome (22q11.2DS) presents with complex but variable symptoms, including cardiac, immune, palatal, endocrine, cognitive, and psychiatric issues. However, an association of 22q11.2DS with structural airway abnormalities has not been formally described. The aim of this study was to document the frequency of this association. METHODS: We retrospectively reviewed medical records of patients with 22q11.2DS evaluated in the 22q and You Center at the Children's Hospital of Philadelphia between 1999 and 2015 referred to otolaryngology for an airway assessment. Type of airway abnormality and presence of comorbidities, such as congenital heart disease, tracheostomy, and association with prenatal symptomatology such as polyhydramnios, were noted. RESULTS: Of the 104 patients who underwent an otolaryngology procedure (microlaryngoscopy or bronchoscopy), 71% (n = 74) had airway abnormalities. Patients with airway abnormalities ranged in age from 5 months to 37 years, with similar prevalence among males and females. Observed airway abnormalities included tracheomalacia (36%), subglottic stenosis (28%), laryngomalacia (26%), glottic web (21%), and bronchomalacia (16%). Most patients with airway abnormalities (91%) had an associated congenital heart defect, with ventricular septal defect and Tetralogy of Fallot being the most prevalent. Importantly, 30% of patients required a tracheostomy, and overall polyhydramnios was noted in 16% of pregnancies. CONCLUSION: Airway abnormalities are a common feature of 22q11.2DS, leading to substantial morbidity, particularly when combined with complex cardiac disease. Polyhydramnios may be an important prenatal clue to both the diagnosis of 22q11.2DS and airway anomalies. Postnatal assessment of airway structure and function among patients with 22q11.2DS is an important component of overall evaluation and will help guide long-term management.

Recommendations for the integration of genomics into clinical practice.

The introduction of diagnostic clinical genome and exome sequencing (CGES) is changing the scope of practice for clinical geneticists. Many large institutions are making a significant investment in infrastructure and technology, allowing clinicians to access CGES, especially as health-care coverage begins to extend to clinically indicated genomic sequencing-based tests. Translating and realizing the comprehensive clinical benefits of genomic medicine remain a key challenge for the current and future care of patients. With the increasing application of CGES, it is necessary for geneticists and other health-care providers to understand its benefits and limitations in order to interpret the clinical relevance of genomic variants identified in the context of health and disease. New, collaborative working relationships with specialists across diverse disciplines (e.g., clinicians, laboratorians, bioinformaticians) will undoubtedly be key attributes of the future practice of clinical genetics and may serve as an example for other specialties in medicine. These new skills and relationships will also inform the development of the future model of clinical genetics training curricula. To address the evolving role of the clinical geneticist in the rapidly changing climate of genomic medicine, two Clinical Genetics Think Tank meetings were held that brought together physicians, laboratorians, scientists, genetic counselors, trainees, and patients with experience in clinical genetics, genetic diagnostics, and genetics education. This article provides recommendations that will guide the integration of genomics into clinical practice.Genet Med 18 11, 1075-1084.

Professional Issues of International Genetic Counseling Students Educated in the United States.

International students have unique personal and academic challenges during their training in genetic counseling programs across the United States (U.S.). Previous research has explored their motivations and experiences; however, there is scant research on how their international status affects the post-graduate experience. The current study used semi-structured phone interviews to explore the professional issues that international students face throughout their educational and professional careers. Twenty-six participants were interviewed including international genetic counseling students in their second years of training and international genetic counselors who graduated from a U.S.-accredited program. Participants included six, second-year students, twelve genetic counselors employed in the U.S., six employed in Canada, and one employed in the United Kingdom (U.K.). Qualitative analysis of interviews captured the common experiences and challenges international students faced during their training and post-graduation. Participants stated that they applied to programs in the U.S. because there is wide transferability of qualifications across the world, and there is limited or no opportunities for masters level genetic counseling training in their home country. Most participants who had applied for jobs in the U.S. experienced difficulties regarding unfamiliarity of human resources (HR) departments and Border Control Officers with international genetic counselors (GCs) and their visa requirements. The results suggest that currently there are insufficient job resources tailored to international genetic counselors, and an inadequate availability of peer support. The results also speak to the need to develop resources for prospective international students and for international GCs seeking jobs, and establishment of a peer support network. These resources may also provide assistance to genetic counseling training programs and employers to address the challenges faced by international genetic counselors.

An Exploratory Study of Employers' Attitudes Towards a Clinical Doctorate in Genetic Counseling.

Creation of an advanced degree in genetic counseling has been considered since the early 1980s. The Genetic Counseling Advanced Degree Task Force (GCADTF) was convened in 2012 to formally explore the potential suitability of a clinical doctorate (ClinD), though employer perspectives of advanced training were not part of the discussion. The conclusion of this group was that the field was not ready to move to an entry-level clinical doctorate at this time but that further education and research among other stakeholders was necessary (Nagy et al. 2014). In this study, we describe employers' perspectives on developing a clinical doctorate in genetic counseling based upon thirty audio-recorded semi-structured phone interviews that were transcribed verbatim and qualitatively analyzed. Overall, employers expressed concerns regarding the economic viability of ClinD training but envisioned expanded roles for genetic counselors (especially in areas of education and research) and enhanced credibility. While some employers reported that they would provide flexibility and tuition assistance for acquisition of a ClinD, for many employers, support was contingent on perceived value of the degree. Some employers were not clear about the difference between a ClinD and a PhD, suggesting that there is a need for educating employers about advanced degree options for the genetic counseling field. Future research could include investigating employer attitudes about market needs, envisioned roles, and compensation formulas for counselors with a ClinD or other forms of advanced training.

An investigation of genetic counselors' testing recommendations: pedigree analysis and the use of multiplex breast cancer panel testing.

Genetic testing recommendations for hereditary breast and ovarian cancer involve pedigree analysis and consultation of testing guidelines. The testing landscape for hereditary cancer syndromes is shifting as multiplex panel tests become more widely integrated into clinical practice. The purpose of the current study was to assess how genetic counselors utilize pedigrees to make recommendations for genetic testing, to determine consistency of these recommendations with National Comprehensive Cancer Network (NCCN) Guidelines and to explore current use of multiplex panel testing. Sixty-nine genetic counselors were recruited through the National Society of Genetic Counselors Cancer Special Interest Group's Discussion Forum. Participation involved pedigree analysis and completion of an online questionnaire assessing testing recommendations and use of multiplex panel testing. Pedigree analysis and test recommendations were scored for consistency with NCCN guidelines. The average score was 12.83/15 indicating strong consistency with NCCN guidelines. Participants were more likely to consider multiplex testing when pedigrees demonstrated highly penetrant dominant inheritance but were not indicative of a particular syndrome. Participant concerns about multiplex panel testing include limited guidelines for both testing eligibility and medical management. This study demonstrates high utilization of pedigree analysis and raises new questions about its use in multiplex genetic testing.

Genetic risk perception and reproductive decision making among people with epilepsy.

We investigated estimated offspring risk among people with epilepsy and factors important in the family-planning process. Data were collected for 88 participants using a questionnaire assessing perceived risk of offspring to develop epilepsy, importance of factors in the reproductive decision-making process, decision to have fewer children, and association between risk perception and family planning decisions. Thirty-four percent of participants had fewer children because of their epilepsy. Concerns about the ability to care for a child (p < 0.0001) and passing epilepsy onto a child (p = 0.003) were associated with the decision to have fewer children. The mean estimated risk of offspring to develop epilepsy was 26%, a 4-fold increase over estimated population risks. Genetic counseling may be beneficial for people with epilepsy, given the considerable overestimation of offspring risk.