Comprehensive Paired Tumor/Germline Testing for Lynch Syndrome: Bringing Resolution to the Diagnostic Process.

PURPOSE: The current diagnostic testing algorithm for Lynch syndrome (LS) is complex and often involves multiple follow-up germline and somatic tests. We aimed to describe the results of paired tumor/germline testing performed on a large cohort of patients with colorectal cancer (CRC) and endometrial cancer (EC) to better determine the utility of this novel testing methodology. MATERIALS AND METHODS: We retrospectively reviewed a consecutive series of patients with CRC and EC undergoing paired tumor/germline analysis of the LS genes at a clinical diagnostic laboratory (N = 702). Microsatellite instability, MLH1 promoter hypermethylation, and germline testing of additional genes were performed if ordered. Patients were assigned to one of five groups on the basis of prior tumor screening and germline testing outcomes. Results for each group are described. RESULTS: Overall results were informative regarding an LS diagnosis for 76.1% and 60.8% of patients with mismatch-repair-deficient (MMRd) CRC and EC without and with prior germline testing, respectively. LS germline mutations were identified in 24.8% of patients in the group without prior germline testing, and interestingly, in 9.5% of patients with previous germline testing; four of these were discordant with prior tumor screening. Upon excluding patients with MLH1 promoter hypermethylation and germline mutations, biallelic somatic inactivation was seen in approximately 50% of patients with MMRd tumors across groups. CONCLUSION: Paired testing identified a cause for MMRd tumors in 76% and 61% of patients without and with prior LS germline testing, respectively. Findings support inclusion of tumor sequencing as well as comprehensive LS germline testing in the LS testing algorithm. Paired testing offers a complete, convenient evaluation for LS with high diagnostic resolution.

Diagnosis and Management of Malignant Melanoma in Store-and-Forward Teledermatology.

BACKGROUND: Published studies have led to concern that store-and-forward teledermatology (SFT) diagnosis and management of melanomas may be inferior to face-to-face (FTF) dermatology care. INTRODUCTION: To ascertain the frequency of correctly managed and diagnosed melanomas within a population of veterans in Veterans Integrated Service Network 20 SFT. MATERIALS AND METHODS: We conducted a retrospective chart review of 7,960 veterans seen by SFT between July 1, 2009 and December 31, 2011. RESULTS: Of the 61 veterans that met inclusion and exclusion criteria, 45 (74%) melanomas were correctly diagnosed and 57 (93%) were correctly managed. DISCUSSION: Diagnostic and management accuracy of SFT is comparable to FTF. Incorrect diagnosis or management of melanomas did not prove to have significant consequences for patient care. Cases subject to analysis of this study are not demographically representative of the general population. CONCLUSION: Diagnosis and management of melanoma in SFT is comparable to FTF care.

Unimaged Melanomas in Store-and-Forward Teledermatology.

BACKGROUND: Store-and-forward teledermatology (SFT) readers can only diagnose what is imaged. This limitation has caused concern regarding the ability of primary care to direct imaging of lesions suspicious for melanoma. Melanomas not imaged by primary care providers (PCPs) are termed unimaged melanomas. OBJECTIVE: To determine the frequency of unimaged melanomas among Veterans referred for care in a SFT program. MATERIALS AND METHODS: All SFT patients with melanoma diagnosis were ascertained by query of the VA corporate data warehouse, Veterans Integrated Service Network 20 store-and-forward program database, and the VA Computerized Patient Record System. RESULTS: Between July 1, 2009 and December 31, 2011, 12,863 SFT consultations were conducted on 7,960 Veterans. Sixty-nine melanomas met inclusion and exclusion criteria; 13 melanomas were unimaged. The frequency of unimaged melanoma was 10.1 per 10,000 consultations. DISCUSSION: Our calculated frequency of unimaged melanomas associates SFT with noninferiority to face-to-face care. This study was conducted on an exclusively Veteran population, precluding generalizability to the general population. CONCLUSIONS: PCPs referring to store-and-forward teledermatology may fail to image melanomas.

Melanoma Registry Underreporting in the Veterans Health Administration.

Use of local SNOMED codes and clerical errors led to the underreporting of melanomas despite having an in-house reporting system and understanding reporting requirements.

Teledermatology Implementation in a VHA Secondary Treatment Facility Improves Access to Face-to-Face Care.

BACKGROUND: Teledermatology is a mainstream modality for delivering care in the Veterans Health Administration, especially in rural areas where access to traditional dermatology care is constrained. Previous investigations of the effect of teledermatology on improving patient access have focused largely on the metrics of visits avoided. However, the effect of teledermatology on improving patient access to face-to-face dermatology has not been well documented. The purpose of this study was to assess the impact of the implementation of store-and-forward teledermatology on access to face-to-face dermatology at the Mann-Grandstaff Spokane Veterans Administration (VA) Medical Center in Spokane, WA. MATERIALS AND METHODS: Completed requests for dermatology and teledermatology consultation originating from the Spokane main facility from January 1, 2012 through June 30, 2013 were obtained from the Corporate Data Warehouse by SQL query. The numbers of consult requests and wait times for care for overall dermatology, face-to-face dermatology, and teledermatology were compared across the baseline, transition, and intervention periods. RESULTS: Within 6 months of implementation, the total number of requests for dermatology services increased by 40%. Access to face-to-face dermatology care improved, with a decrease in the duration of the interval between consultation request and consultation completion from a mean of 64.2 days to 20.3 days; overall access to dermatology (teledermatology and face-to-face dermatology) care improved with a decrease in the duration of the same from a mean of 61.2 days to 10.3 days. CONCLUSIONS: Implementation of a teledermatology program at the Mann-Grandstaff Spokane VA Medical Center improved access to face-to-face dermatology care.