Case Series: Neurobehavioral Profile of Adolescents with PTEN Hamartoma Tumor Syndrome.

Background: PTEN Hamartoma Tumor Syndrome (PHTS) is a rare genetic condition caused by germline mutations in the phosphatase and tensin homologue (PTEN) gene with a phenotype that includes macrocephaly, cancer predisposition, developmental delay, increased risk for autism spectrum disorder (ASD), and learning difficulties. Studies characterizing neurobehavioral profiles are limited. Methods: This single-site, retrospective case series was completed in children who have PHTS followed in a cancer predisposition clinic. Demographic and clinical, data were abstracted from the medical record for 12 patients (mean age at clinic entry = 8.83 years; 42% female). Neuropsychological data were abstracted for 3 of 12 patients that were referred for testing (17-year-old female with attention-deficit/hyperactivity disorder [ADHD]; 15-year-old male with academic concerns and ASD, 12-year-old male with academic concerns). Results: Of the 12 patients, macrocephaly was present in 100%, 58% had developmental delays during early childhood, and 17% had an ASD diagnosis. Results from neuropsychological testing showed Borderline to Average range global intellectual functioning (Standard Score range: 77 to 95) along with deficits in non-verbal reasoning, visual-motor integration, math achievement, and caregiver-rated adaptive skills. Conclusion: Individuals with PHTS may present with cognitive difficulties that impact everyday functioning, with or without a neurodevelopmental diagnosis. Routine neurocognitive assessment should be considered in management guidelines.

Creating a cancer genomics curriculum for pediatric hematology-oncology fellows: A national needs assessment.

BACKGROUND: With the advent of next generation sequencing, tumor and germline genomic testing are increasingly being used in the management of pediatric cancer patients. Despite this increase in testing, many pediatric hematology-oncology (PHO) providers are not confident interpreting or utilizing tumor or germline genomic results to care for their patients. METHODS: We developed and delivered a needs assessment survey to PHO program directors, attendings, and fellows in the United States to understand this deficiency, gather data on existing cancer genomics educational initiatives, and query preferences for creating a future curriculum. RESULTS: The survey includes 31 (41%) of 74 invited PHO program directors, 110 (11%) of 1032 invited attendings, and 79 fellows. The majority of attending physicians and fellows responding to the survey agree that understanding tumor (95% attending physicians; 95% fellows) and germline (86% attending physicians; 94% fellows) genomic information is essential for their practice. However, only 9 of 31 (29%) responding programs report that they have an existing cancer genomics curriculum. Most program directors indicated that the ideal genomics curriculum would occur during the first year of fellowship and incorporate direct patient care, online modules, and problem-based learning. Attending physicians and fellows identified that addressing indications for ordering tumor and germline genomic testing, counseling about the risks and benefits of such testing, and interpreting and individualizing clinical management based on tumor and germline results should be included in a future curriculum. CONCLUSION: The results of this study reveal a great need to develop a curriculum that can be offered across PHO fellowship programs to expand knowledge in the area of cancer genomics.

Genetic counseling graduate training to address religion and spirituality in clinical practice: A qualitative exploration of programs in North America.

Patients receiving clinical genetics services often navigate emotionally difficult situations and may utilize their faith as a source of support, an aid in decision-making, or a core coping strategy. Although patients have expressed interest in discussing their religious or spiritual (R/S) beliefs with their genetic counselor (GC), GCs may avoid such conversations because they feel they do not have the necessary skills to discuss R/S beliefs (Reis, Baumiller, Scrivener, Yager, & Warren, 2007). This qualitative study explored how GC programs in North America currently prepare their students to discuss R/S matters with their patients. The aims of this study were to identify (1) the R/S topics genetic counseling programs currently cover in the curriculum, (2) how genetic counseling programs evaluate their students within the R/S topics and activities that are included in the curriculum, and (3) the value or importance placed on R/S training by genetic counseling program directors. Leaders of 12 (36%) of the 33 eligible GC programs at the time of the study participated in a semi-structured phone interview. Their responses were coded using open and axial coding techniques and analyzed using grounded theory. Results revealed that R/S issues are often covered during the psychosocial portions of the curriculum through writing assignments, in class exercises, and role plays. Almost all participating programs include information on pastoral care services, but have little to no training about specific R/S beliefs or the use of spiritual surveys. While participating program directors emphasized that it is critical for students to be prepared to hold conversations about patients' R/S beliefs, the strategies used to prepare students are inconsistent and often not evaluated. We provide suggestions for enriching the R/S training in genetic counseling graduate programs in order to prepare students to facilitate discussions around patients' religion and/or spirituality in genetic counseling sessions.