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).

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.

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.

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.

Test-takers' perspectives on consumer genetic testing for hereditary cancer risk.

Purpose: With few exceptions, research on consumer genetic testing for hereditary cancer risk has focused on tests with limited predictive value and clinical utility. Our study advances the existing literature by exploring the experiences and behaviors of individuals who have taken modern consumer genetic tests for cancer susceptibility that, unlike earlier tests, screen for medically significant variants. Methods: We interviewed 30 individuals who had undergone consumer genetic testing for hereditary cancer risk between 2014 and 2019. We explored participants' pre-test sentiments (7 items), experiences receiving results (5 items), behavioral and health-related changes (6 items), and attitudes and beliefs (3 items). Data were analyzed for thematic content. Results: Most participants reported a personal (n = 6) and/or family history (n = 24) of cancer, which influenced their choice to pursue testing. Before testing, most participants did not consult with a physician (n = 25) or receive genetic counseling (n = 23). Nevertheless, the majority felt that they understood test-related information (n = 20) and their results (n = 20), though a considerable number reported experiencing negative emotions related to their results. Most also shared their results with family members (n = 27). Overall, participants' attitudes towards consumer genetic testing for cancer risk were predominantly positive (n = 23). Conclusion: This study offers new insights into how individuals use and perceive modern consumer genetic tests for hereditary cancer risk, focusing on their perceptions of the risks, benefits, and limitations of these services. Understanding test-takers' perspectives can potentially inform improvements aimed at ensuring that tests meet users' needs and deliver clinically valuable genetic risk assessments.

Decreased serum ferritin is associated with alopecia in women.

Alopecia in women is a common problem, and conflicting observational data have failed to determine whether an association exists between alopecia and iron deficiency in women. We therefore utilized an analytical cross-sectional methodology to evaluate whether common types of alopecia in women are associated with decreased tissue iron stores, as measured by serum ferritin. We studied patients with telogen effluvium (n = 30), androgenetic alopecia (n = 52), alopecia areata (n = 17), and alopecia areata totalis/universalis (n = 7). The normal group consisted of 11 subjects without hair loss from the same referral base and source population as those patients with alopecia. We analyzed the data utilizing the unpaired Student's t test assuming unequal variances with an alpha adjustment for multiple comparisons to assess whether the mean ages, ferritin levels, and hemoglobin levels of women without hair loss differed from the means in each alopecia group. The mean age of patients and normals did not differ significantly. We found that the mean ferritin level (ng per ml [95% confidence intervals]) in patients with androgenetic alopecia (37.3 128.4, 46.1]) and alopecia areata (24.9 [17.2, 32.6]) were statistically significantly lower than in normals without hair loss (59.5 [40.8, 78.1]). The mean ferritin levels in patients with telogen effluvium (50.1 [33.9, 66.33]) and alopecia areata totalis/universalis (52.3 [23.1, 81.5]) were not significantly lower than in normals. Our findings have implications regarding therapeutics, clinical trial design, and understanding the triggers for alopecia.

Genetic testing for inherited breast cancer risk in African Americans.

As genetic testing for BRCA1 and BRCA2 (BRCA1/2) mutations is increasingly integrated into the clinical management of high-risk women, it will be important to understand barriers and motivations for genetic counseling among women from underserved minority groups to ensure equitable access to these services. Therefore, the purpose of this review was to synthesize literature on knowledge and attitudes about genetic counseling and testing for inherited breast cancer risk in African Americans. We also review studies that evaluated genetic testing intentions in this population. We conducted a search of the PubMed database to identify studies related to BRCA1/2 testing in African Americans that were published between 1995 and 2003. Overall, studies have evaluated ethnic differences in knowledge and attitudes about genetic testing or have compared African American and Caucasian women in terms of genetic testing intentions. These studies have shown that knowledge about breast cancer genetics and exposure to information about the availability of testing is low among African Americans, whereas expectations about the benefits of genetic testing are endorsed highly. However, much less is known about the psychological and behavioral impact of genetic testing for BRCA1/2 mutations in African Americans. Additional research is needed to understand barriers and motivations for participating in genetic testing for inherited cancer risk in African Americans. The lack of studies on psychological functioning, cancer surveillance, and preventive behaviors following testing is a significant void; however, for these studies to be conducted, greater access to genetic counseling and testing in African Americans will be needed.