Incorporating Biobank Consent into a Healthcare Setting: Challenges for Patient Understanding

Biobank participants often do not understand much of the information they are provided as part of the informed consent process, despite numerous attempts at simplifying consent forms and improving their readability. We report the first assessment of biobank enrollees’ comprehension under an "integrated consent” process, where patients were asked to enroll in a research biobank as part of their normal healthcare experience. A number of healthcare systems have implemented similar integrated consent processes for biobanking, but it is unknown how much patients understand after enrolling under these conditions. Methods: We recruited patients who enrolled in a biobank while in a healthcare setting when receiving ordinary care. We assessed knowledge of consent materials using 11 true/false questions drawn from a well-known biobank knowledge test. After reviewing the results from 114 participants, we revised the consent form and repeated the knowledge assessment with 144 different participants. Results: Participants scored poorly on the knowledge test in both rounds, with no significant differences in overall scores or individual items between the rounds. In Phase 1, participants answered 53% of the questions correctly, 25% incorrectly, and 22% “I don’t know.” In Phase 2, participants answered 53% of questions correctly, 24% incorrectly, and 23% “I don’t know.” Participants scored particularly poorly on questions about data sharing and accessing medical records. Conclusions: Enrollees under an integrated consent model had significant misunderstandings that persisted despite an attempt to improve information specifically about those topics in a consent form. These results raise challenges for current approaches that attribute misunderstanding to overly complex consent forms. They also suggest that the pressures of the clinic may compound other problems with patient understanding of biobank consent. As health systems increasingly blend research and care, they may need to rethink their approach to educating patients about participation in a biobank

Tumor Transcriptome Sequencing Reveals Allelic Expression Imbalances Associated with Copy Number Alterations

Due to growing throughput and shrinking cost, massively parallel sequencing is rapidly becoming an attractive alternative to microarrays for the genome-wide study of gene expression and copy number alterations in primary tumors. The sequencing of transcripts (RNA-Seq) should offer several advantages over microarray-based methods, including the ability to detect somatic mutations and accurately measure allele-specific expression. To investigate these advantages we have applied a novel, strand-specific RNA-Seq method to tumors and matched normal tissue from three patients with oral squamous cell carcinomas. Additionally, to better understand the genomic determinants of the gene expression changes observed, we have sequenced the tumor and normal genomes of one of these patients. We demonstrate here that our RNA-Seq method accurately measures allelic imbalance and that measurement on the genome-wide scale yields novel insights into cancer etiology. As expected, the set of genes differentially expressed in the tumors is enriched for cell adhesion and differentiation functions, but, unexpectedly, the set of allelically imbalanced genes is also enriched for these same cancer-related functions. By comparing the transcriptomic perturbations observed in one patient to his underlying normal and tumor genomes, we find that allelic imbalance in the tumor is associated with copy number mutations and that copy number mutations are, in turn, strongly associated with changes in transcript abundance. These results support a model in which allele-specific deletions and duplications drive allele-specific changes in gene expression in the developing tumor

Habilidades funcionais, nível de actividade, integração na comunidade e saúde em idosos institucionalizados em lar: resultados preliminares

São escassos os estudos portugueses que avaliam o nível de funcionalidade, o nível de actividade e a saúde em idosos institucionalizados em lar. Objectivos: Estimar os meses de institucionalização dos idosos e as causas que conduziram à institucionalização em lar, bem como o número de idosos que partilha o seu quarto com outros. Estimar as Habilidades Funcionais dos idosos, o tipo de actividades relatadas, dentro e fora da instituição (Nível de Actividade e Integração na Comunidade) e o grau de saúde (objectiva e subjectiva). Analisar a relação entre estas quatro dimensões e analisar a relação destas com algumas variáveis demográficas (idade, género). Métodos: 35 idosos institucionalizados em lar (idade média=80.20 anos; DP=6.263) completaram o Questionário de Informação Pessoal (QIP; Fernándes-Ballesteros, 1995; Maia et al., 2013). Para a análise dos dados recorremos ao SPSS 21. Resultados: A grande generalidade dos idosos está institucionalizada há mais de 16 meses, por motivos maioritariamente de saúde (65,7%), partilha o quarto com terceiros (71.4%) e é autónoma, não necessitando de ajuda (56.7%) em actividades como o cuidado pessoal, comer, vestir/despir, andar, levantar/deitar. Quando se trata das actividades mais complexas, como a administração de dinheiro, uso do telefone ou ida às compras, o grau de dependência aumenta (27.6% dos sujeitos necessitam de muita ajuda e 35.2% de alguma ajuda). Verifica-se que 72.9% da população está inactiva, visto limitar-se a ver televisão ou a ouvir rádio e apenas 14.3% dos idosos se dedicam a actividades fora da Instituição. Os actos religiosos têm uma larga adesão (88.6%). 79.4% dos idosos reporta problemas de mobilidade e 35.3% problemas de foro psicológico. Verifica-se que 45.7% percepcionam a saúde como má, com as mulheres a percepcionarem a sua saúde mais negativamente do que os homens. Nenhum dos idosos, de ambos os géneros, percepciona a sua saúde como boa ou excelente (0%). A dimensão Nível de Actividade apresenta uma correlação positiva com a dimensão Integração na Comunidade (r=.448*). O género apresenta uma correlação significativa com a dimensão Habilidades Funcionais (rho=.383*) e com a dimensão Saúde (r=.414*). O estado civil apresentou uma correlação positiva com as Habilidades Funcionais (rho=.419*) e o grau de escolaridade apresentou uma correlação negativa e com a dimensão Saúde (r=-.446*). Conclusões: Na nossa amostra a institucionalização é causada maioritariamente devido a problemas de saúde. A maioria dos idosos partilha o seu quarto o que pode afectar a sua intimidade e bem-estar. Apesar da maioria dos idosos ser funcionalmente autónoma, a grande generalidade apresenta uma vida pautada pela inactividade e por fracos laços com o exterior. As mulheres percepcionam a sua saúde mais negativamente do que os homens. Importa assim, desenvolver estratégias que conduzam a um envelhecimento activo destes idosos

Comparative Treatment Outcomes for Patients With Idiopathic Subglottic Stenosis.

To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked DownloadImportance: Surgical treatment comparisons in rare diseases are difficult secondary to the geographic distribution of patients. Fortunately, emerging technologies offer promise to reduce these barriers for research. Objective: To prospectively compare the outcomes of the 3 most common surgical approaches for idiopathic subglottic stenosis (iSGS), a rare airway disease. Design, setting, and participants: In this international, prospective, 3-year multicenter cohort study, 810 patients with untreated, newly diagnosed, or previously treated iSGS were enrolled after undergoing a surgical procedure (endoscopic dilation [ED], endoscopic resection with adjuvant medical therapy [ERMT], or cricotracheal resection [CTR]). Patients were recruited from clinician practices in the North American Airway Collaborative and an online iSGS community on Facebook. Main outcomes and measures: The primary end point was days from initial surgical procedure to recurrent surgical procedure. Secondary end points included quality of life using the Clinical COPD (chronic obstructive pulmonary disease) Questionnaire (CCQ), Voice Handicap Index-10 (VHI-10), Eating Assessment Test-10 (EAT-10), the 12-Item Short-Form Version 2 (SF-12v2), and postoperative complications. Results: Of 810 patients in this cohort, 798 (98.5%) were female and 787 (97.2%) were white, with a median age of 50 years (interquartile range, 43-58 years). Index surgical procedures were ED (n = 603; 74.4%), ERMT (n = 121; 14.9%), and CTR (n = 86; 10.6%). Overall, 185 patients (22.8%) had a recurrent surgical procedure during the 3-year study, but recurrence differed by modality (CTR, 1 patient [1.2%]; ERMT, 15 [12.4%]; and ED, 169 [28.0%]). Weighted, propensity score-matched, Cox proportional hazards regression models showed ED was inferior to ERMT (hazard ratio [HR], 3.16; 95% CI, 1.8-5.5). Among successfully treated patients without recurrence, those treated with CTR had the best CCQ (0.75 points) and SF-12v2 (54 points) scores and worst VHI-10 score (13 points) 360 days after enrollment as well as the greatest perioperative risk. Conclusions and relevance: In this cohort study of 810 patients with iSGS, endoscopic dilation, the most popular surgical approach for iSGS, was associated with a higher recurrence rate compared with other procedures. Cricotracheal resection offered the most durable results but showed the greatest perioperative risk and the worst long-term voice outcomes. Endoscopic resection with medical therapy was associated with better disease control compared with ED and had minimal association with vocal function. These results may be used to inform individual patient treatment decision-making.Patient-Centered Outcomes Research Institute - PCOR