Patient Preferences for Care by General Internists and Specialists in the Ambulatory Setting

OBJECTIVE: To investigate patients' preferences for care by general internists and specialists for common medical conditions. DESIGN: Telephone interview. SETTING: A convenience sample of general internal medicine practices at 10 eastern academic medical centers. PATIENT/PARTICIPANTS: A probability sample of 314 participants who had at least one visit with their primary care physician during the preceding 2 years. MEASUREMENTS AND MAIN RESULTS: Items addressed patients' attitudes concerning continuity of care, preferences for care by general internists or specialists for common medical problems, and perceptions about the competency of general internists and specialists to manage these problems. Continuity was important to participants, with 63% reporting they preferred having one doctor. Respondents were willing to wait 3 or 4 days to see their regular doctor (85%) and wanted their doctor to see them in the emergency department (77%) and monitor their care while in the hospital (94%). A majority (>60%) preferred care from their regular doctor for a variety of new conditions. Though respondents valued continuity, 84% felt it was important to be able to seek medical care from any type of physician without a referral, and 74% responded that if they needed to see a specialist, they were willing to pay out-of-pocket to do so. Although most participants (98%) thought their regular doctor was able to take care of usual medical problems, the majority thought that specialists were better able to care for allergies (79%) and better able to prescribe medications for depression (65%) and low-back pain (72%). CONCLUSIONS: Participants preferred to see their general internist despite their perceptions that specialists were more competent in caring for the conditions we examined. However, they wanted unrestricted access to specialists to supplement care provided by general internists

TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma

Telomerase reverse transcriptase (TERT) promoter mutations were recently shown to drive telomerase activity in various cancer types, including medulloblastoma. However, the clinical and biological implications of TERT mutations in medulloblastoma have not been described. Hence, we sought to describe these mutations and their impact in a subgroup-specific manner. We analyzed the TERT promoter by direct sequencing and genotyping in 466 medulloblastomas. The mutational distributions were determined according to subgroup affiliation, demographics, and clinical, prognostic, and molecular features. Integrated genomics approaches were used to identify specific somatic copy number alterations in TERT promoter-mutated and wild-type tumors. Overall, TERT promoter mutations were identified in 21 % of medulloblastomas. Strikingly, the highest frequencies of TERT mutations were observed in SHH (83 %; 55/66) and WNT (31 %; 4/13) medulloblastomas derived from adult patients. Group 3 and Group 4 harbored this alteration in < 5 % of cases and showed no association with increased patient age. The prognostic implications of these mutations were highly subgroup-specific. TERT mutations identified a subset with good and poor prognosis in SHH and Group 4 tumors, respectively. Monosomy 6 was mostly restricted to WNT tumors without TERT mutations. Hallmark SHH focal copy number aberrations and chromosome 10q deletion were mutually exclusive with TERT mutations within SHH tumors. TERT promoter mutations are the most common recurrent somatic point mutation in medulloblastoma, and are very highly enriched in adult SHH and WNT tumors. TERT mutations define a subset of SHH medulloblastoma with distinct demographics, cytogenetics, and outcomes