Patient Engagement in Health Research: Perspectives from Patient Participants.

BACKGROUND AND PURPOSE: Over the past decade, patient engagement (PE) has emerged as an important way to help improve the relevance, quality, and impact of health research. However, there is limited consensus on how best to meaningfully engage patients in the research process. The goal of this article is to share our experiences and insights as members of a Patient Advisory Committee (PAC) on a large, multidisciplinary cancer research study that has spanned six years. We hope by sharing our reflections of the PAC experiences, we can highlight successes, challenges, and lessons learned to help guide PE in future health research. To the best of our knowledge, few publications describing PE experiences in health research teams have been written by patients, survivors, or family caregivers themselves. METHODS: A qualitative approach was used to gather reflections from members of the Patient Advisory Committee regarding their experiences in participating in a research study over six years. Each member completed an online survey and engaged in a group discussion based on the emergent themes from the survey responses. RESULTS: Our reflections about experiences as a PAC on a large, pan-Canadian research study include three overarching topics (1) what worked well; (2) areas for improvement; and (3) reflections on our overall contribution and impact. Overall, we found the experience positive and experienced personal satisfaction but there were areas where future improvements could be made. These areas include earlier engagement and training in the research process, more frequent communication between the patient committee and the research team, and on-going monitoring regarding the nature of the patient engagement. CONCLUSIONS: Engaging individuals who have experienced the types of events which are the focus of a research study can contribute to the overall relevance of the project. However, intentional efforts are necessary to ensure satisfactory involvement.

Implementation of a Web-Based Communication System for Primary Care Providers and Cancer Specialists.

Healthcare providers have reported challenges with coordinating care for patients with cancer. Digital technology tools have brought new possibilities for improving care coordination. A web- and text-based asynchronous system (eOncoNote) was implemented in Ottawa, Canada for cancer specialists and primary care providers (PCPs). This study aimed to examine PCPs' experiences of implementing eOncoNote and how access to the system influenced communication between PCPs and cancer specialists. As part of a larger study, we collected and analyzed system usage data and administered an end-of-discussion survey to understand the perceived value of using eOncoNote. eOncoNote data were analyzed for 76 shared patients (33 patients receiving treatment and 43 patients in the survivorship phase). Thirty-nine percent of the PCPs responded to the cancer specialist's initial eOncoNote message and nearly all of those sent only one message. Forty-five percent of the PCPs completed the survey. Most PCPs reported no additional benefits of using eOncoNote and emphasized the need for electronic medical record (EMR) integration. Over half of the PCPs indicated that eOncoNote could be a helpful service if they had questions about a patient. Future research should examine opportunities for EMR integration and whether additional interventions could support communication between PCPs and cancer specialists.

Patient and Healthcare Provider Perspectives on the Implementation of a Web-Based Clinical Communication System for Cancer: A Qualitative Study.

Previous research has identified communication and care coordination problems for patients with cancer. Healthcare providers (HCPs) have reported communication issues due to the incompatibility of electronic medical records (EMR) software and not being consistently copied on patient reports. We evaluated an asynchronous web-based communication system ("eOncoNote") for primary care providers and cancer specialists to improve cancer care coordination. The objectives were to examine patients' perceptions of the role of eOncoNote in their healthcare, and HCPs' experiences of implementing eOncoNote. Qualitative interviews were conducted with patients with breast and prostate cancer, primary care providers, and cancer specialists. Eighteen patients and fourteen HCPs participated. Six themes were identified from the patient interviews focusing on HCP and patient roles related to care coordination and patient awareness of communication among their HCPs. Four themes were identified from HCP interviews related to the context of care coordination and experience with eOncoNote. Both patients and HCPs described the important role patients and caregivers play in care coordination. The results show that patients were often unaware of the communication between their HCPs and assumed they were communicating. HCPs encountered challenges incorporating eOncoNote into their workflow.

Every Story Is Different: Experiences With Body Changes Related to Cancer.

One of the important aspects of stakeholder engagement in cancer care and system planning is hearing from individuals who have been diagnosed with cancer about the impact of the diagnosis and treatment on their lives. Hearing stories from the perspectives of cancer survivors offers opportunity to gain new insight and understanding about experiences of being diagnosed and treated for cancer. This article presents ten short narratives about survivors' perspectives on body image and cancer. Each story is unique but, taken together, the picture they create is one of facing challenges, discovering personal resilience, and moving forward to engage in living. The stories emphasize the importance of communication and support from healthcare providers and understanding needs for a person-centered cancer care system.

Cancer specialist perspectives on implementing an online communication system with primary care providers.

Context: The Canadian Team to Improve Community-Based Cancer Care along the Continuum (CanIMPACT) is a group of researchers, primary care providers (PCPs), cancer specialists, patients and caregivers working to improve cancer care coordination between PCPs and cancer specialists. Previous research by CanIMPACT and others has identified problems related to communication, coordination, and continuity of care. Objective: Describe findings from qualitative interviews with cancer specialists on implementation of an online communication system with PCPs. Study Design: Hybrid type I effectiveness-implementation study that included a qualitative research component and a pragmatic RCT. Setting: Ottawa Hospital Cancer Program and primary care practices in the Champlain region. Population Studied: Cancer specialists (nurses, medical and radiation oncologists, program administrators). Interviews conducted with 12 cancer specialists. Intervention: Cancer-specific adaptation of Champlain BASE™ eConsult, an online communication system for PCPs and cancer specialists called "eOncoNote". For patients receiving treatment for prostate or breast cancer, cancer specialists had an opportunity to participate in eOncoNote discussion with PCP for 4-6 months; for breast and colorectal cancer survivors, the eOncoNote discussion lasted for 1 year post discharge to the patient's PCP. Results: Cancer specialists described limited PCP involvement in cancer care while patients received active treatment, with one-way communication and notes being "sent into a vacuum". There was more communication with PCPs regarding patients with metastatic disease, comorbid conditions, after patients have completed treatment, or during palliative care. Patients and caregivers play a critical role in coordinating cancer care, helping to facilitate coordination. Lack of access to the same electronic medical record (EMR) among healthcare providers poses a barrier to cancer care coordination. eOncoNote had the potential to be useful tool but it was not used extensively. Conclusions: Accessing eOncoNote as a separate system was challenging to incorporate into the workflow, and cancer specialists highlighted the need for integration with their EMR. eOncoNote did not affect information sharing with PCPs, as there was limited uptake within primary care.

History of Depression and Increased Risk of Sternal Wound Infection After Cardiothoracic Surgery: A Novel and Potentially Modifiable Risk Factor.

BACKGROUND: Sternal wound infection (SWI) is a leading cause of postoperative disease and death; the risk factors for SWI remain incompletely understood. The goal of the current study was to investigate the relationship between a preoperative history of depression and the risk of SWI after cardiothoracic surgery. METHODS: Among patients undergoing cardiothoracic surgery in a major academic medical center between 2007 and 2012, those in whom SWI developed (n = 129) were matched, by date of surgery, with those in whom it did not (n = 258). Multivariable logistic regression was used to examine the strength of relationships between risk factors and development of infection. History of depression was defined as a composite variable to increase the sensitivity of detection. RESULTS: History of depression as defined by our composite variable was associated with increased risk of SWI (adjusted odds ratio, 2.4; 95% confidence interval, 1.2-4.7; P = .01). Staphylococcus aureus was the most common organism isolated. CONCLUSIONS: History of depression was associated with increased risk of SWI. Future prospective studies are warranted to further investigate this relationship. Depression is highly treatable, and increased efforts to identify and treat depression preoperatively may be a critical step toward preventing infection-related disease and death.

Taking Your Qualitative Research to the Next Level: A Guide for the Medical Educator.

Qualitative research is a focused and deliberate approach to understanding the human condition and can identify areas that warrant further investigation through hypothesis-testing (quantitative) research. In this overview article, we discuss reasons to undertake a qualitative study; introduce three research paradigms whose frameworks are commonly used by medical education researchers (grounded theory, ethnography, phenomenology); describe the four most commonly used data gathering techniques (interviews, focus groups, observation, document tracing); and discuss the nature of the sampling/data gathering process. Examples of research questions that employ each paradigm and data gathering technique as well as a list of published sample articles to guide researchers are provided.

Primary care providers' experiences with and perceptions of personalized genomic medicine.

OBJECTIVE: To assess primary care providers' (PCPs') experiences with, perceptions of, and desired role in personalized medicine, with a focus on cancer. DESIGN: Qualitative study involving focus groups. SETTING: Urban and rural interprofessional primary care team practices in Alberta and Ontario. PARTICIPANTS: Fifty-one PCPs. METHODS: Semistructured focus groups were conducted and audiorecorded. Recordings were transcribed and analyzed using techniques informed by grounded theory including coding, interpretations of patterns in the data, and constant comparison. MAIN FINDINGS: Five focus groups with the 51 participants were conducted; 2 took place in Alberta and 3 in Ontario. Primary care providers described limited experience with personalized medicine, citing breast cancer and prenatal care as main areas of involvement. They expressed concern over their lack of knowledge, in some circumstances relying on personal experiences to inform their attitudes and practice. Participants anticipated an inevitable role in personalized medicine primarily because patients seek and trust their advice; however, there was underlying concern about the magnitude of information and pace of discovery in this area, particularly in direct-to-consumer personal genomic testing. Increased knowledge, closer ties to genetics specialists, and relevant, reliable personalized medicine resources accessible at the point of care were reported as important for successful implementation of personalized medicine. CONCLUSION: Primary care providers are prepared to discuss personalized medicine, but they require better resources. Models of care that support a more meaningful relationship between PCPs and genetics specialists should be pursued. Continuing education strategies need to address knowledge gaps including direct-to-consumer genetic testing, a relatively new area provoking PCP concern. Primary care providers should be mindful of using personal experiences to guide care.

Impact of phonological processing skills on written language acquisition in illiterate adults.

Illiteracy remains a world-wide problem not only for children but also for adults. Phonological processing has been defined as a crucial factor for the acquisition of written language, which usually occurs in childhood. However, it is unclear to what extent phonological processing is necessary in order for adults to acquire written language skills. We tested 47 illiterate adults before and after a one-year alphabetization course in several cognitive domains relevant to phonological processing and compared their results to 41 matched controls who did not take part in the alphabetization course. Phonological awareness in the narrower sense (e.g., phoneme association) was a stronger predictor of alphabetization outcome than demographic variables such as years of education. In addition, despite improvement of illiterate individuals in phonological awareness, short-term memory, and visual attention from before to after the alphabetization course, they did not reach the phonological processing level of literate controls. Our results confirm that the alphabetization of adults requires and enhances phonological processes similar to those of children. Nevertheless, specific aspects, such as improvements in short-term memory or visual attention, need to be considered in order to improve and optimize alphabetization programs for adults.

Specific extra chromosomes occur in a modal number dependent pattern in pediatric acute lymphoblastic leukemia.

Children with acute lymphoblastic leukemia (ALL) and high hyperdiploidy (>50 chromosomes) are considered to have a relatively good prognosis. The specific extra chromosomes are not random; extra copies of some chromosomes occur more frequently than those of others. We examined the extra chromosomes present in high hyperdiploid ALL to determine if there were a relation of the specific extra chromosomes and modal number (MN) and if the extra chromosomes present could differentiate high hyperdiploid from near-triploid and near-tetraploid cases. Karyotypes of 2,339 children with ALL and high hyperdiploidy at diagnosis showed a distinct nonrandom sequential pattern of gain for each chromosome as MN increased, with four groups of gain: chromosomes 21, X, 14, 6, 18, 4, 17, and 10 at MN 51-54; chromosomes 8, 5, 11, and 12 at MN 57-60; chromosomes 2, 3, 9,16, and 22 at MN 63-67; chromosomes 1, 7 13, 15, 19, and 20 at MN 68-79, and Y only at MN >or=80. Chromosomes gained at lower MN were retained as the MN increased. High hyperdiploid pediatric ALL results from a single abnormal mitotic division. Our results suggest that the abnormal mitosis involves specific chromosomes dependent on the number of chromosomes aberrantly distributed, raising provocative questions regarding the mitotic mechanism. The patterns of frequencies of tetrasomy of specific chromosomes differs from that of trisomies with the exception of chromosome 21, which is tetrasomic in a high frequency of cases at all MN. These results are consistent with different origins of high hyperdiploidy, near-trisomy, and near-tetrasomy.

Cytogenetic heteromorphisms: survey results and reporting practices of giemsa-band regions that we have pondered for years.

CONTEXT: Cytogenetic heteromorphisms (normal variants) pose diagnostic dilemmas. Common Giemsa-band heteromorphisms are not described in the literature, although Giemsa-banding is the method most frequently used in cytogenetic laboratories. OBJECTIVE: To summarize the responses from more than 200 cytogeneticists concerning the definition and reporting of cytogenetic heteromorphisms, to offer these responses as a reference for use in clinical interpretations, and to provide guidance for interpretation of newly defined molecular cytogenetic heteromorphisms. DESIGN: The Cytogenetics Resource Committee of the College of American Pathologists and the American College of Medical Genetics administered a proficiency testing survey in 1997 to 226 participant cytogenetic laboratories. Supplemental questions asked whether participants considered particular Giemsa-banded chromosomal features to be heteromorphisms and if these would be described in a cytogenetic clinical report. RESULTS: Responses were obtained from 99% of participants; 61% stated they would include selected heteromorphism data in a clinical report. More than 90% considered prominent short arms, large or double satellites, or increased stalk length on acrocentric chromosomes to be heteromorphisms; 24% to 36% stated that they would include these in a clinical report. Heterochromatic regions on chromosomes 1, 9, 16, and Y were considered heteromorphisms by 97% of participants, and 24% indicated they would report these findings. Pericentric inversions of chromosomes 1, 2, 3, 5, 9, 10, 16, and Y were considered heteromorphisms with more than 75% of respondents indicating they would report these findings. CONCLUSIONS: Responses were not unanimous, but a clear consensus is presented describing which Giemsa-band regions were considered heteromorphisms and which would be reported.

Cytogenetic evaluation of a large series of hepatoblastomas: numerical abnormalities with recurring aberrations involving 1q12-q21.

Hepatoblastoma is a malignant embryonal liver tumor that occurs almost exclusively in infants and very young children. Previous cytogenetic studies of hepatoblastoma have investigated small series or individual cases. This report is on the cytogenetics of a large series of 111 hepatoblastoma specimens, with cytogenetic results consecutively karyotyped over a 12-year period. Abnormal karyotypes were observed in 55 cases (approximately 50% of the total). Numerical aberrations were observed in 41 cases (36% of the total), particularly trisomies of chromosomes 2, 8, and 20. Chromosome losses were less common than chromosome gains. Structural abnormalities were observed in 43 cases (39% of the total). Unbalanced translocations resulting in trisomy 1q and involving breakpoints at 1q12-21 were the most common structural abnormality, observed in 20 tumors (18% of total cases); the corresponding translocated chromosome was highly varied. The previously reported t(1;4) was observed in seven cases. Most tumors with translocations involving 1q12-21 also displayed numerical chromosome aberrations, the most common of which were chromosomal trisomies, whereas tumors with other structural rearrangements had fewer numerical abnormalities.

Translocation (10;17)(q22;p13): a recurring translocation in clear cell sarcoma of kidney.

A clear cell sarcoma from the kidney of a 12-month-old male child manifested a balanced translocation, t(10;17)(q22;p13). This is the second report of this cytogenetic abnormality in renal clear cell sarcoma.

Hepatic mesenchymal hamartoma with translocation involving chromosome band 19q13.4: a recurrent abnormality.

We report a case of mesenchymal hamartoma of the liver in an 8-month-old male child, in which the cytogenetic analysis revealed a balanced translocation, t(11;19)(q13;q13.4). This is the fifth description of a cytogenetic abnormality in mesenchymal hamartoma and is similar to the four cases reported previously in that one of the breakpoints involved chromosome band 19q13.4.

Problems with ISCN FISH Nomenclature make it not practical for use in clinical test reports or cytogenetic databases [corrected].

PURPOSE: To assess the extent and the sources of variation in ISCN nomenclature used by participants in CAP/ACMG surveys dealing with fluorescence in situ hybridization (FISH). METHODS: Over 1600 nomenclature strings from 15 challenges in seven surveys were evaluated for the contributions of diagnostic errors, syntax errors, methodological differences, and technical factors not foreseen by ISCN 1995. RESULTS: Although diagnostic errors were uncommon, syntax errors were numerous, approaching 50% of the responses for several challenges. Their frequency varied with the complexity of the nomenclature required to describe a test condition. Variation attributable to probe selection and band designation correlated with the number of probes available for addressing the diagnostic issue at hand. In the most dramatic example of this effect, a survey simulating diagnosis of trisomy 21 in uncultured amniocytes, there were 66 participants (of 99) who used the same general form for their nomenclature, but only 8 of the 66 had exactly the same nomenclature string. Participants used proprietary names, created their own nomenclature, or ignored the true complexity of probe systems when trying to describe conditions not foreseen by ISCN 1995. CONCLUSION: The use of current ISCN FISH nomenclature resulted in survey participants describing unique biological conditions in a multitude of different ways. In addition to making the nomenclature unsuitable for proficiency test purposes, this heterogeneity makes it impractical for clinical test reporting and for cytogenetic database management. Because methodological information contributes a large amount of variability, adds complexity, and increases opportunities for syntax errors, a system that excludes such information would be more effective.

Proficiency testing for laboratories performing fluorescence in situ hybridization with chromosome-specific DNA probes.

OBJECTIVE: To assess laboratory performance, use, and limitations in the joint College of American Pathologists and American College of Medical Genetics proficiency testing program for laboratories performing cytogenetic tests based on fluorescence in situ hybridization (FISH). DATA SOURCES: Eight proficiency surveys dealing with FISH detection of microdeletions or microduplications, aneuploidy in interphase cells, gene amplification, and neoplasm-specific translocations. Participating laboratories used their own DNA probes (commercial or home-brew), hybridization methods, and analytic criteria to answer clinical questions about cases represented by slides included in the survey materials. They also described their test results according to the International System for Human Cytogenetic Nomenclature (ISCN) and answered supplementary questions relating to their experience with the subject test systems. DATA EXTRACTION: In addition to evaluating diagnostic accuracy, we evaluated survey use, laboratory experience, variation in methodologic approach, and the practicality of using ISCN nomenclature for describing test results. SYNTHESIS AND CONCLUSIONS: With the exception of one challenge, at least 80% of the participants reached the correct diagnostic conclusion. In the sole exception, there was still a consensus of 91.7% of participants with the same (albeit erroneous) diagnostic conclusion. The overall outstanding performance of participating laboratories clearly shows the reliability of current FISH methods. Despite the fact that a large number of laboratories reported little or no experience with the specific test systems, the overwhelming majority performed very well. This result shows that the program's strategy of targeting classes of abnormalities (vs a single abnormality associated with a specific disease) did not put at a disadvantage participants who did not routinely perform all of the potential tests in the class. The extraordinary variation in ISCN descriptions submitted by participants showed that the existing system for human cytogenetic nomenclature is not suitable for facile communication of FISH test results.

Primary effusion lymphomas exhibit complex and recurrent cytogenetic abnormalities.

Cytogenetic findings in a few primary effusion lymphoma (PEL) cell lines have been reported, but only three complete karyotypes of primary specimens from patients with this neoplasm have been published. In this study, cytogenetic analysis was performed on 11 effusion specimens from 10 patients with PEL. We corroborate data obtained from the cell line studies that trisomy 7, trisomy 12 and aberrations in the proximal long arm of chromosome 1 (1q) are recurring cytogenetic aberrations in PEL and also identify breakpoints at 3q23, 7p22, 7q22, 10q24, 12q24, 13q22, 14q24, 14q32, 15p11.2 and Xq22 as well as +8, +15, +19, +X and -Y as recurring chromosome abnormalities. The identification of recurring cytogenetic aberrations may lead to delineation of the genetic events in PEL.