Screening with whole-body magnetic resonance imaging in pediatric subjects with Li-Fraumeni syndrome: A single institution pilot study.

BACKGROUND: Li-Fraumeni syndrome (LFS) is an autosomal dominant hereditary cancer syndrome associated with germline mutations in the TP53 gene and a high risk of childhood-onset malignancies. Cancer surveillance is challenging in pediatric mutation carriers given the anatomic spectrum of malignancies and young age of onset. Whole-body magnetic resonance imaging (WB-MRI) may provide an acceptable method for early cancer detection. PROCEDURE: We conducted a prospective feasibility pilot study of pediatric subjects (age < 18 years) with LFS to determine return rates for annual WB-MRI scan. Secondary objectives included characterization of incident cancers (and how they were detected). RESULTS: Forty-five WB-MRI scans in 20 subjects were performed over 5 years; two patients enrolled without subsequently undergoing scans. Eighty-nine percent of participants scanned (95% confidence interval: 67-99%) returned for second examinations. Fifty-five percent of participants required general anesthesia, which was well tolerated in all cases. Six patients required dedicated follow-up imaging. One participant required biopsy of a detected brain lesion; pathology demonstrated reactive gliosis. Another participant, with prior choroid plexus carcinoma, had a new brain lesion detected on clinical follow-up MRI not seen on WB-MRI 6 months prior. All other participants remain well (median: 3 years, range: 0.08-4 years). CONCLUSIONS: WB-MRI in pediatric subjects is a well-tolerated approach to cancer surveillance despite the need for general anesthesia in some patients. A large multicenter trial would determine true test characteristics and efficacy of this approach for early cancer detection in children at high cancer risk.

A comparison of cancer risk assessment and testing outcomes in patients from underserved vs. tertiary care settings.

In cancer genetics, technological advances (next generation sequencing) and the expansion of genetic test options have resulted in lowered costs and increased access to genetic testing. Despite this, the majority of patients utilizing cancer genetics services lack diversity of gender, ethnicity, and socioeconomic status. Through retrospective chart review, we compared outcomes of cancer genetics consultations at a tertiary cancer center and a Federally Qualified Health Center (FQHC) (58 tertiary and 23 FQHC patients) from 2013 to 2015. The two groups differed in race, ethnicity, use of translator services, and type of insurance coverage. There were also significant differences in completeness of family history information, with more missing information about relatives in the FQHC group. In spite of these differences, genetic testing rates among those offered testing were comparable across the two groups with 74% of tertiary patients and 60% of FQHC patients completing testing. Implementation of community-based cancer genetics outreach clinics represents an opportunity to improve access to genetic counseling services, but more research is needed to develop effective counseling models for diverse patient populations.

How Community Clergy Provide Spiritual Care: Toward a Conceptual Framework for Clergy End-of-Life Education.

CONTEXT: Community-based clergy are highly engaged in helping terminally ill patients address spiritual concerns at the end of life (EOL). Despite playing a central role in EOL care, clergy report feeling ill-equipped to spiritually support patients in this context. Significant gaps exist in understanding how clergy beliefs and practices influence EOL care. OBJECTIVES: The objective of this study was to propose a conceptual framework to guide EOL educational programming for community-based clergy. METHODS: This was a qualitative, descriptive study. Clergy from varying spiritual backgrounds, geographical locations in the U.S., and race/ethnicities were recruited and asked about optimal spiritual care provided to patients at the EOL. Interviews were audio taped, transcribed, and analyzed following principles of grounded theory. A final set of themes and subthemes were identified through an iterative process of constant comparison. Participants also completed a survey regarding experiences ministering to the terminally ill. RESULTS: A total of 35 clergy participated in 14 individual interviews and two focus groups. Primary themes included Patient Struggles at EOL and Clergy Professional Identity in Ministering to the Terminally Ill. Patient Struggles at EOL focused on existential questions, practical concerns, and difficult emotions. Clergy Professional Identity in Ministering to the Terminally Ill was characterized by descriptions of Who Clergy Are ("Being"), What Clergy Do ("Doing"), and What Clergy Believe ("Believing"). "Being" was reflected primarily by manifestations of presence; "Doing" by subthemes of religious activities, spiritual support, meeting practical needs, and mistakes to avoid; "Believing" by subthemes of having a relationship with God, nurturing virtues, and eternal life. Survey results were congruent with interview and focus group findings. CONCLUSION: A conceptual framework informed by clergy perspectives of optimal spiritual care can guide EOL educational programming for clergy.