Does the amount of family history matter? Perspectives of adult adoptees.

Family history is considered the gold standard for risk assessment of inherited conditions and is often used to inform preventative care. There are currently no provider guidelines that address caring for patients with a lack of family history, and adoptees report inconsistent care because of this. Through this qualitative study, we explored (1) how the amount of family history impacts adoptees' perceptions of healthcare and (2) adoptees' suggestions for improvement of their healthcare. Fourteen adult adoptees participated in semi-structured interviews via telephone or Zoom audio. Transcripts were analyzed using thematic analysis and interpretive phenomenology. Results revealed five themes: adoptees should have access to their family health history; several factors influence the importance of family history (reproduction, identity formation, age, and health concerns); many adoptees use direct-to-consumer testing to gain information about health risks or to find family members; completing history forms or being asked about family health history invokes negative emotions in adoptees; experiences with healthcare providers are variable for adoptees. These results show that unknown family health history can contribute to a negative perception of healthcare. Adoptees perceive family health history as important to know, and not having this information brings up complex emotions in the healthcare setting. To help mitigate the disparities and the negative emotions that adoptees feel, genetic counselors should consider acknowledging the complex emotions, reassuring adoptees with available preventative care, and revising preclinical paperwork, such as family health history questionnaires, to be more inclusive of those who lack this information. These changes have the potential to significantly improve healthcare experiences for adoptees. Healthcare providers, especially genetic counselors, need to continue to learn about and advocate for this population.

Factors influencing applicants' rank order in the Genetic Counseling Admissions Match.

Previous studies have identified factors that influence genetic counseling applicants' decisions to initially apply to certain schools. However, research on the factors that influence their Genetic Counseling Admissions Match (GCAM) rank order preferences are limited. The purpose of this study was to investigate these factors via an online survey sent to current students and recent graduates who participated in the GCAM. Participants (N = 415) were asked to rank factors within six categories (faculty, students, didactic curriculum, clinical training, cost of attendance, and general program information) on a 7-point Likert scale. Factors related to clinical training were most influential to applicants (M = 5.68), while factors related to didactic training were least influential to applicants (M = 4.63). Several significant differences existed between underrepresented and overrepresented applicants; overrepresented was defined as White, non-Hispanic female. Underrepresented applicants were more influenced by the diversity of program faculty (p = 0.016), students (p ≤ 0.001), and the location/patient population (p = 0.003), while overrepresented applicants are more influenced by program graduation and board pass rates (p = 0.021). The results of our study suggest that GCAM rank preferences are influenced by a large number of factors. Additionally, by demonstrating significant differences in the influence of program diversity on underrepresented applicants, the results of our study suggest that JEDI efforts of genetic counseling training programs should continue to be an area of focus, in order to create a more welcoming environment for all students and to further diversify the genetic counseling profession.

Factors associated with pediatric genetic counselors' practices related to bullying screening.

Bullying is reported in around 20% of children according to the US Department of Education and has been reported in the histories of individuals with genetic disorders. To our knowledge, there has never been a study surveying whether genetic counselors screen their pediatric patients for bullying. This is despite guidelines that pediatric healthcare providers should screen for bullying. The purpose of this study was to assess North American genetic counselors who see pediatric patients and enquire about their practices, attitudes, self-confidence, knowledge, and potential training needs in relation to bullying screening. In an anonymous online survey, 139 genetic counselors from the United States and Canada completed a modified version of the previously validated Healthcare Providers Practices, Attitudes, Self-Confidence, and Knowledge (HCP-PACK) instrument. Among our participant population, 85% reported they did not screen for bullying. This is despite no statistically significant difference in the amount of reported time spent on either initial or follow-up appointments between those who did or did not screen. Those who screened for bullying among their pediatric patients were more likely to view bullying as a healthcare problem (as measured on the attitude subscale) (t[135] = -2.07, p = 0.04) and had greater confidence in their ability to know how to assess for bullying (as measured on the self-confidence subscale) (t[135] = -2.90, p = 0.004) compared with participants who did not screen for bullying. Responses from genetic counselors who screened their patients for bullying demonstrated how screening for bullying can be aligned with the American Board of Genetic Counseling practice-based competencies. Even though the majority of participants did not view screening for bullying as a genetic counselor's role, 82.5% agreed that bullying was a healthcare problem and 63.6% thought genetic counselors should have additional educational opportunities to learn about bullying. Evidence-based guidance is needed to help genetic counselors interested in including screening for bullying in their practice.

Exploring genetic counselors' use of pedigree symbols to represent assisted reproductive technology.

The standardized pedigree nomenclature recommendations created by the National Society of Genetic Counselors Pedigree Standardization Work Group contains some Assistive Reproductive Technology (ART) specific nomenclature. However, the work groups' recommendations lack instructions on how to document 'the number of embryos conceived, frozen, and implanted, along with their genetic testing history' (Bennett et al., 2008, p. 429). The purpose of this qualitative study was to determine if the current symbols are sufficient for what genetic counselors need in the ART field and how genetic counselors are addressing any gaps. Ten genetic counselors with ART counseling experience participated in semi-structured interviews. Participants reported using standard symbols and creating their own designs when standard symbols are not available for applicable ART situation. Thematic analysis identified seven reasons why participants felt that ART should be recorded on the medical pedigree. The 3 most common themes identified were: (1) medical assessment and facilitating development of a differential diagnosis, (2) clarity and continuity of documentation, and (3) psychosocial assessment of the family and fertility experience. All participants felt that the current nomenclature was not sufficient for their clinical practice and would support additional standard symbols. This study supports the need for development of further pedigree nomenclature inclusive of patients with ART experiences.