International students' perspectives on the genetic counseling application process.

Between 2018 and 2023, one percent of matched applicants to North American genetic counseling graduate programs (GCGPs) have been international applicants (IAs). The COVID-19 pandemic led to changes in the GCGP application processes in 2020, most notably the incorporation of virtual interviews and GRE waivers, which uniquely impacted IAs. Twelve international genetic counseling (GC) students who matriculated into a U.S.-based GCGP in 2021 or 2022 participated in this qualitative study (42% of the total enrolled) to understand their application experience. Cost, location of the program, and rapport during interviews were the most important factors identified by IAs to apply to and rank the GCGPs. Shadowing and volunteer experiences relevant to GC were cited as important for applicants to learn about a genetic counseling career, but many had challenges finding opportunities in their home countries. Unique logistical challenges in taking the GRE, transcript evaluation services, and standardized English proficiency tests were described. Although virtual interviews offered the same experience as domestic applicants, the time difference was a major challenge, requiring IAs to interview through the night, creating additional stressors. Nine of 12 were re-applicants and shared that engaging with GCGPs early in the process was beneficial for improving applications and, at times, requesting waivers for transcript evaluation requirements and considering unique volunteering experiences. Participants suggested GCGPs can address barriers by providing more specific information on their websites as it pertains to IAs, and contact information for the international student office. Improving awareness of the applicants' backgrounds, home country experiences, and time zone differences would provide IAs with a more equitable application experience. Addressing these barriers could help promote diversity, equity, and inclusion allowing for more IAs and the growth of the genetic counseling profession.

Genomes for Nurses: Understanding and Overcoming Barriers to Nurses Utilizing Genomics.

Background: Genomic testing is an increasingly important technology within pediatric oncology that aids in cancer diagnosis, provides prognostic information, identifies therapeutic targets, and reveals underlying cancer predisposition. However, nurses lack basic knowledge of genomics and have limited self-assurance in using genomic information in their daily practice. This single-institution project was carried out at an academic pediatric cancer hospital in the United States with the aim to explore the barriers to achieving genomics literacy for pediatric oncology nurses. Method: This project assessed barriers to genomic education and preferences for receiving genomics education among pediatric oncology nurses, nurse practitioners, and physician assistants. An electronic survey with demographic questions and 15 genetics-focused questions was developed. The final survey instrument consisted of nine sections and was pilot-tested prior to administration. Data were analyzed using a ranking strategy, and five focus groups were conducted to capture more-nuanced information. The focus group sessions lasted 40 min to 1 hour and were recorded and transcribed. Results: Over 50% of respondents were uncomfortable with or felt unprepared to answer questions from patients and/or family members about genomics. This unease ranked as the top barrier to using genomic information in clinical practice. Discussion: These results reveal that most nurses require additional education to facilitate an understanding of genomics. This project lays the foundation to guide the development of a pediatric cancer genomics curriculum, which will enable the incorporation of genomics into nursing practice.

Parental Understanding of Their Child's Germline Genomic Testing: Intent of Disclosure to Their Child and Family.

Genomic testing is becoming increasingly common in the care of pediatric patients with cancer. Parental understanding of germline results and their intent and timing of results disclosure to their child and family may have significant implications on the family unit. The purpose of this study was to examine parental understanding of germline genomic results and plans for disclosure to their child and other relatives. Semi-structured interviews were conducted with 64 parents of children with cancer, approximately eight weeks after parents had received their child's results. Parents of children with negative results (n = 20), positive results (n = 15), or variants of uncertain significance (n = 29), were interviewed. Fifty-three parents (83%) correctly identified their child's results as negative, uncertain, or positive. Most parents had disclosed results to family members; however, only 11 parents (17%) acknowledged discussing results with their child. Most parents delayed disclosure due to the young age of their child at the time of testing. In summary, most parents appropriately described their child's germline genomic results, yet few discussed the results with their child due to age. Families should be followed with supportive counseling to assist parents in the timing and content of result disclosure to their children.

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.

Germline genomic findings in children and young adults with melanocytic tumors.

In this retrospective study, we examined the prevalence and spectrum of germline variants in selected cancer predisposition genes in 38 children and young adults with melanocytic lesions at St. Jude Children's Research Hospital. Diagnoses included malignant melanoma (n = 16; 42%), spitzoid melanoma (n = 16; 42%), uveal melanoma (n = 5; 13%), and malignant melanoma arising in a giant congenital melanocytic nevus (n = 1; 3%). Six patients (15.8%) harbored pathogenic germline variants: one with bi-allelic PMS2 variants, one with a heterozygous 17q21.31 deletion, and one each with a pathogenic variant in TP53, BRIP1, ATM, or AXIN2. Overall, 15.8% of patients harbored a cancer-predisposing genetic variant.

Pathogenic Variants in Adult-Onset Cancer Predisposition Genes in Pediatric Cancer: Prevalence and Impact on Tumor Molecular Features and Clinical Management.

PURPOSE: Clinical genomic sequencing of pediatric tumors is increasingly uncovering pathogenic variants in adult-onset cancer predisposition genes (aoCPG). Nevertheless, it remains poorly understood how often aoCPG variants are of germline origin and whether they influence tumor molecular profiles and/or clinical care. In this study, we examined the prevalence, spectrum, and impacts of aoCPG variants on tumor genomic features and patient management at our institution. EXPERIMENTAL DESIGN: This is a retrospective study of 1,018 children with cancer who underwent clinical genomic sequencing of their tumors. Tumor genomic data were queried for pathogenic variants affecting 24 preselected aoCPGs. Available tumor whole-genome sequencing (WGS) data were evaluated for second hit mutations, loss of heterozygosity (LOH), DNA mutational signatures, and homologous recombination deficiency (HRD). Patients whose tumors harbored one or more pathogenic aoCPG variants underwent subsequent germline testing based on hereditary cancer evaluation and family or provider preference. RESULTS: Thirty-three patients (3%) had tumors harboring pathogenic variants affecting one or more aoCPGs. Among 21 tumors with sufficient WGS sequencing data, six (29%) harbored a second hit or LOH affecting the remaining aoCPG allele with four of these six tumors (67%) also exhibiting a DNA mutational signature consistent with the altered aoCPG. Two additional tumors demonstrated HRD, of uncertain relation to the identified aoCPG variant. Twenty-one of 26 patients (81%) completing germline testing were positive for the aoCPG variant in the germline. All germline-positive patients were counseled regarding future cancer risks, surveillance, and risk-reducing measures. No patients had immediate cancer therapy changed due to aoCPG data. CONCLUSIONS: AoCPG variants are rare in pediatric tumors; however, many originate in the germline. Almost one third of tumor aoCPG variants examined exhibited a second hit and/or conferred an abnormal DNA mutational profile suggesting a role in tumor formation. aoCPG information aids in cancer risk prediction but is not commonly used to alter the treatment of pediatric cancers.