Measuring Ethnic Diversity

Researchers have investigated the effects of ethnic heterogeneity on a range of socioeconomic and political outcomes. However, approaches to measuring ethnic diversity vary not only across fields of study but even within subfields. In this review, we systematically dissect the computational approaches of prominent measures of diversity, including polarization, and discuss where and how differences emerge in their relationships with outcomes of interest to sociologists (social capital and trust, economic growth and redistribution, conflict, and crime). There are substantial similarities across computations, which are often generalizations or specializations of one another. Differences in how racial and ethnic groupings are constructed and in level of geographic analysis explain many divergences in empirical findings. We conclude by summarizing the type of measurement technique preferred by outcome, when relevant, and provide considerations for future researchers contemplating how best to operationalize diversity. Finally, we highlight two less widely used yet promising measures of diversity

Patient-shared knowledge and information in clinical decision-making : an international survey of the perspectives and experiences of naturopathic practitioners

Introduction Most knowledge translation models pay relatively little attention to patient-held knowledge and are largely based on the premise that researchers and clinicians hold all valuable knowledge, and patients are passive recipients of such knowledge. Counter to this clinician- and researcher-centred lens is a growing interest and awareness of patients as experts in their health. While naturopathic medicine is described and experienced as a patient-centred system of traditional medicine, the position of patient-held knowledge is unclear particularly when considered alongside their use of other more objective forms of knowledge such as research evidence. Methods This international online cross-sectional survey aimed to explore naturopathic practitioners’ perceptions of the value and contribution of patient-shared knowledge and information within the context of naturopathic clinical consultations. Results The survey was completed by 453 naturopathic practitioners (response rate: 74.3%). Approximately two-thirds (68.2%) of respondents reported using information shared by the patient. Most rated ‘information provided by the patient’ as either ‘extremely important’ (60.7%) or ‘very important’ (31.4%) to patients. Highest levels of trust were reported for information provided by the patient (‘completely’: 9.9%; ‘a lot’: 53.6%). Most practitioners indicated they trusted knowledge and information derived from the patient’s personal health history ‘completely’(n=79; 21.8%) or ‘a lot’(n=226; 62.4%) from the patient’s perspective of living with a health condition (‘completely’[n=63, 17.4%]; ‘a lot’[n=224, 61.9%]). Patients were the highest ranked stakeholder group (mean: 1.5) perceived to influence NP use of patient experience of living with a health condition to inform clinical decision-making. Conclusion Researchers and policy makers are increasingly focused on the value of the ‘expert patient’ in clinical decision-making, yet health professionals’ report challenges and, in some cases, resistance to meaningfully engaging with patient-shared knowledge in practice. However, our study has found patient-shared knowledge – inclusive of patient experience of their health condition – is among the knowledge used and trusted by naturopathic practitioners to inform their clinical decision-making. This study both offers insights into the knowledge translation behaviours of an under-researched health profession and provides a novel contribution to the wider aim of adopting patient shared knowledge into clinical care more generally.Publisher PDFPeer reviewe

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.

Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM -/- patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

Introduction: Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be caused by exposure to reactive oxygen species, a main source of which are mitochondria. Mitochondrial genome variations affect electron transport chain efficiency and reactive oxygen species production. Individuals with different mitochondrial haplogroups differ in their metabolism and sensitivity to oxidative stress. Variability in mitochondrial genetic background can alter reactive oxygen species production, leading to cancer risk. In the present study, we tested the hypothesis that mitochondrial haplogroups modify breast cancer risk in BRCA1/2 mutation carriers. Methods: We genotyped 22,214 (11,421 affected, 10,793 unaffected) mutation carriers belonging to the Consortium of Investigators of Modifiers of BRCA1/2 for 129 mitochondrial polymorphisms using the iCOGS array. Haplogroup inference and association detection were performed using a phylogenetic approach. ALTree was applied to explore the reference mitochondrial evolutionary tree and detect subclades enriched in affected or unaffected individuals. Results: We discovered that subclade T1a1 was depleted in affected BRCA2 mutation carriers compared with the rest of clade T (hazard ratio (HR) = 0.55; 95% confidence interval (CI), 0.34 to 0.88; P = 0.01). Compared with the most frequent haplogroup in the general population (that is, H and T clades), the T1a1 haplogroup has a HR of 0.62 (95% CI, 0.40 to 0.95; P = 0.03). We also identified three potential susceptibility loci, including G13708A/rs28359178, which has demonstrated an inverse association with familial breast cancer risk. Conclusions: This study illustrates how original approaches such as the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects.Peer reviewe

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Abstract: Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM−/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors

Patient-shared knowledge and information in clinical decision-making:an international survey of the perspectives and experiences of naturopathic practitioners

IntroductionMost knowledge translation models pay relatively little attention to patient-held knowledge and are largely based on the premise that researchers and clinicians hold all valuable knowledge, and patients are passive recipients of such knowledge. Counter to this clinician- and researcher-centred lens is a growing interest and awareness of patients as experts in their health. While naturopathic medicine is described and experienced as a patient-centred system of traditional medicine, the position of patient-held knowledge is unclear particularly when considered alongside their use of other more objective forms of knowledge such as research evidence.Methods This international online cross-sectional survey aimed to explore naturopathic practitioners’ perceptions of the value and contribution of patient-shared knowledge and information within the context of naturopathic clinical consultations. Results The survey was completed by 453 naturopathic practitioners (response rate: 74.3%). Approximately two-thirds (68.2%) of respondents reported using information shared by the patient. Most rated ‘information provided by the patient’ as either ‘extremely important’ (60.7%) or ‘very important’ (31.4%) to patients. Highest levels of trust were reported for information provided by the patient (‘completely’: 9.9%; ‘a lot’: 53.6%). Most practitioners indicated they trusted knowledge and information derived from the patient’s personal health history ‘completely’(n=79; 21.8%) or ‘a lot’(n=226; 62.4%) from the patient’s perspective of living with a health condition (‘completely’[n=63, 17.4%]; ‘a lot’[n=224, 61.9%]). Patients were the highest ranked stakeholder group (mean: 1.5) perceived to influence NP use of patient experience of living with a health condition to inform clinical decision-making. Conclusion Researchers and policy makers are increasingly focused on the value of the ‘expert patient’ in clinical decision-making, yet health professionals’ report challenges and, in some cases, resistance to meaningfully engaging with patient-shared knowledge in practice. However, our study has found patient-shared knowledge – inclusive of patient experience of their health condition – is among the knowledge used and trusted by naturopathic practitioners to inform their clinical decision-making. This study both offers insights into the knowledge translation behaviours of an under-researched health profession and provides a novel contribution to the wider aim of adopting patient shared knowledge into clinical care more generally

An Online Educational Program for Individuals With Dissociative Disorders and Their Clinicians: 1-Year and 2-Year Follow-Up.

Individuals with dissociative disorders (DDs) are underrecognized, underserved, and often severely psychiatrically ill, characterized by marked dissociative and posttraumatic stress disorder (PTSD) symptoms with significant disability. Patients with DD have high rates of nonsuicidal self-injury (NSSI) and suicide attempts. Despite this, there is a dearth of training about DDs. We report the outcome of a web-based psychoeducational intervention for an international sample of 111 patients diagnosed with dissociative identity disorder (DID) or other complex DDs. The Treatment of Patients with Dissociative Disorders Network (TOP DD Network) program was designed to investigate whether, over the course of a web-based psychoeducational program, DD patients would exhibit improved functioning and decreased symptoms, including among patients typically excluded from treatment studies for safety reasons. Using video, written, and behavioral practice exercises, the TOP DD Network program provided therapists and patients with education about DDs as well as skills for improving emotion regulation, managing safety issues, and decreasing symptoms. Participation was associated with reductions in dissociation and PTSD symptoms, improved emotion regulation, and higher adaptive capacities, with overall sample |d|s = 0.44-0.90, as well as reduced NSSI. The improvements in NSSI among the most self-injurious patients were particularly striking. Although all patient groups showed significant improvements, individuals with higher levels of dissociation demonstrated greater and faster improvement compared to those lower in dissociation |d|s = 0.54-1.04 vs. |d|s  = 0.24-0.75, respectively. These findings support dissemination of DD treatment training and initiation of treatment studies with randomized controlled designs