Tailoring the process of informed consent in genetic and genomic research

Genomic science and associated technologies are facilitating an unprecedented rate of discovery of novel insights into the relationship between human genetic variation and health. The willingness of large numbers of individuals from different ethnic and cultural backgrounds to donate biological samples is one of the major factors behind the success of the ongoing genomic revolution. Although current informed consent documents and processes demonstrate a commitment to ensuring that study participants are well informed of the risks and benefits of participating in genomic studies, there continues to be a need to develop effective new approaches for adequately informing participants of the changing complexities of the scientific and ethical issues that arise in the conduct of genomics research. Examples of these complexities in genomic research include more widespread use of whole-genome sequencing technologies, broad sharing of individual-level data, evolving information technology, the growing demand for the return of genetic results to participants, and changing attitudes about privacy and the expansion of genomics studies to global populations representing diverse cultural, linguistic and socio-economic backgrounds. We highlight and briefly discuss the importance of ten core scientific, cultural and social factors that are particularly relevant to tailoring informed consent in genomic research, and we draw attention to the need for the informed consent document and process to be responsive to the evolving nature of genomic research

Bioéthique et anthropologie : Situer le " bien " dans la pratique médicale

RÉSUMÉBioéthique et anthropologie. Situer le « bien » dans la pratique médicaleCet article examine comment des anthropologues qui travaillent sur la bioéthique ont réussi à concilier deux conceptions de la morale médicale : l'une qui s'enracine dans les mondes locaux et l'autre, issue de la philosophie occidentale, qui applique des principes universels. Nous replaçons différentes notions de la personne dans le contexte de leur émergence pour montrer les difficultés qui surviennent lorsqu'il faut juger que telle pratique médicale est «appropriée» ou non. Notre ethnographie sur les soins en fin de vie et sur l'éthique dans la recherche médicale internationale montre qu'une bioéthique imprégnée de connaissances anthropologiques permet d'ancrer les conceptions universelles dans la réalité locale. Notre analyse révèle la fragilité d'une bioéthique qui ignore le contexte social et qui prône une version particulière (américaine) de l'autonomie individuelle. Selon nous, l'application simpliste de principes éthiques universaux élude la complexité de l'expérience vécue et les dilemmes de la réalité.Mots clés : Marshall, Koenig. anthropologie, bioéthique. État-UnisABSTRACTIntersections of Bioethics and Anthropology : Locating thé "Good" in Médical PracticeThis paper explores how anthropologists working in thé field of bioethics hâve bridged thé gap between conceptions of médical morality grounded in local worlds and thé universal understandings espoused within thé western philosophical tradition. We highlight culturally diverse notions of personhood to illustrate difficulties that émerge when judging certain practices as "appropriate" or "inappropriate". Our ethnographie work in end-of-life care and international research ethics demonstrates how an anthropologically informed bioethics produces an account that grounds ethical universals in local moral worlds. Our analysis reveals thé thinness of bioethics accounts that disregard social context and celebrate a spécifie (American) version of individual autonomy. We argue that a simplistic application of ethical universals to particular cases dénies thé complexity of lived expérience and real world dilemmas.Key words : Marshall. Koenig. bioethics. anthropology. United State

Cultivating Racial Solidarity Among Mathematics Education Scholars of Color to Resist White Supremacy

In this paper, we propose a racial solidarity praxis in mathematics education grounded in Black-, Latinx-, and Indigenous-led scholarship and their respective communities’ joining efforts to combat White supremacy. Increased solidarity across racial groups in mathematics education could illuminate new ways of nourishing and affirming Indigenous, Latinx, and Black students’ racial identities and cultural strengths. We leverage four frameworks: (1) Whiteness as property (a tenet of Critical race theory) and (2) Tribal Critical Race Theory; (3) Latino Critical Theory; and (4) pedagogy of solidarity, to conceptualize the interdependence required for solidarity work and to expose how White supremacy is maintained overtly and covertly in mathematics curriculum, policies and practices. This study outlines the nuances across each community of scholars, drawing on their strengths to combat oppressive educational structures for students. The authors conclude in solidarity, focusing on the ways our communities have sought to challenge White supremacy and deficit framings of our students, families, and communities. Our hope in bringing these bodies of literature together is to invite others within (and outside of) the field of mathematics education to co-imagine how we might engage our work synergistically. It is through a collectivizing of efforts that we imagine a racial solidarity praxis that begins to erode the power of White supremacy in math education because of the unique and unassimilable strengths and priorities of each community engaged

Voluntary participation and comprehension of informed consent in a genetic epidemiological study of breast cancer in Nigeria

BACKGROUND: Studies on informed consent to medical research conducted in low or middle-income settings have increased, including empirical investigations of consent to genetic research. We investigated voluntary participation and comprehension of informed consent among women involved in a genetic epidemiological study on breast cancer in an urban setting of Nigeria comparing women in the case and control groups. METHODS: Surveys were administered in face-to-face interviews with 215 participants following their enrollment in the genetic study (106 patients, 109 controls). Audio-taped in-depth interviews were conducted with a sub-sample of 17 (8%) women who completed the survey. RESULTS: The majority of all participants reported being told that participation in the genetic study was voluntary (97%), that they did not feel pressured to participate in the study (99%), and that they could withdraw from the study (81%). The majority of the breast cancer patients (83%) compared to 58% of women in the control group reported that the study purpose was to learn about the genetic inheritance of breast cancer (OR 3.44; 95% CI =1.66, 7.14, p value = 0.001). Most participants reported being told about study procedures (95%) and study benefits (98%). Sixty-eight percent of the patients, compared to 47% of the control group reported being told about study risks (p-value <0.001). Of the 165 married women, 19% reported asking permission from their husbands to enroll in the breast cancer study; no one sought permission from local elders. In-depth interviews highlight the use of persuasion and negotiation between a wife and her husband regarding study participation. CONCLUSIONS: The global expansion of genetic and genomic research highlights our need to understand informed consent practices for studies in ethnically diverse cultural environments such as Africa. Quantitative and qualitative empirical investigations of the informed consent process for genetic and genomic research will further our knowledge of complex issues associated with communication of information, comprehension, decisional authority and voluntary participation. In the future, the development and testing of innovative strategies to promote voluntary participation and comprehension of the goals of genomic research will contribute to our understanding of strategies that enhance the consent process

Getting the message straight: effects of a brief hepatitis prevention intervention among injection drug users

To redress gaps in injection drug users' (IDUs) knowledge about hepatitis risk and prevention, we developed a brief intervention to be delivered to IDUs at syringe exchange programs (SEPs) in three US cities. Following a month-long campaign in which intervention packets containing novel injection hygiene supplies and written materials were distributed to every client at each visit, intervention effectiveness was evaluated by comparing exposed and unexposed participants' self-reported injection practices. Over one-quarter of the exposed group began using the novel hygiene supplies which included an absorbent pad ("Safety Square") to stanch blood flow post-injection. Compared to those unexposed to the intervention, a smaller but still substantial number of exposed participants continued to inappropriately use alcohol pads post-injection despite exposure to written messages to the contrary (22.8% vs. 30.0%). It should also be noted that for those exposed to the intervention, 8% may have misused Safety Squares as part of pre-injection preparation of their injection site; attention should be paid to providing explicit and accurate instruction on the use of any health promotion materials being distributed. While this study indicates that passive introduction of risk reduction materials in injection drug users through syringe exchange programs can be an economical and relatively simple method of changing behaviors, discussions with SEP clients regarding explicit instructions about injection hygiene and appropriate use of novel risk reduction materials is also needed in order to optimize the potential for adoption of health promotion behaviors. The study results suggest that SEP staff should provide their clients with brief, frequent verbal reminders about the appropriate use when distributing risk reduction materials. Issues related to format and language of written materials are discussed

Pain Assessment After Anterior Cruciate Ligament Reconstruction: Bone-Patellar Tendon-Bone Versus Hamstring Tendon Autograft.

BACKGROUND: Anterior cruciate ligament (ACL) reconstruction is a common outpatient procedure that is accompanied by significant postoperative pain. PURPOSE: To determine differences in acute pain levels between patients undergoing ACL reconstruction with bone-patellar tendon-bone (BTB) versus hamstring tendon (HS) autograft. STUDY DESIGN: Cohort study; Level of evidence, 2. METHODS: A total of 70 patients who underwent primary ACL reconstruction using either BTB or HS autografts consented to participate. The primary outcome of the study was postoperative pain levels (visual analog scale), which were collected immediately after surgery and for 3 days postoperatively. Secondary outcome measures included opioid consumption (intravenous morphine equivalents), hours slept, patient satisfaction, reported breakthrough pain, and calls to the physician. RESULTS: Patients treated with BTB had increased pain when compared with those treated with HS in the acute postoperative period (mean ± SD: day 0, 6.0 ± 1.7 vs 5.2 ± 2.0 [P = .066]; day 1, 5.9 ± 1.7 vs 4.9 ±1.7 [P = .024]; day 2, 5.2 ± 1.9 vs 4.1 ± 2.0 [P = .032]; day 3, 4.8 ± 2.1 vs 3.9 ± 2.3 [P = .151]). There were also significant increases in reported breakthrough pain (day 0, 76% vs 43% [P = .009]; day 1, 64% vs 35% [P = .003]) and calls to the physician due to pain (day 1, 19% vs 0% [P = .041]) in the BTB group. There were no significant differences in narcotic requirements or sleep disturbances. Overall, the BTB group reported significantly less satisfaction with pain management on days 0 and 1 (P = .024 and .027, respectively). CONCLUSION: A significant increase in acute postoperative pain was found when performing ACL reconstruction with BTB compared with HS. Patients treated with BTB were more likely to have breakthrough pain, decreased satisfaction with their pain management, and to contact their physician due to pain. These findings suggest a difference in early postoperative pain between the 2 most common graft options for ACL reconstruction. Patients should be informed of the differences in acute postoperative pain when deciding on graft choice with their physician

GRB 060313: A New Paradigm for Short-Hard Bursts?

We report the simultaneous observations of the prompt emission in the gamma-ray and hard X-ray bands by the Swift-BAT and the KONUS-Wind instruments of the short-hard burst, GRB 060313. The observations reveal multiple peaks in both the gamma-ray and hard X-ray bands suggesting a highly variable outflow from the central explosion. We also describe the early-time observations of the X-ray and UV/Optical afterglows by the Swift XRT and UVOT instruments. The combination of the X-ray and UV/Optical observations provide the most comprehensive lightcurves to date of a short-hard burst at such an early epoch. The afterglows exhibit complex structure with different decay indices and flaring. This behavior can be explained by the combination of a structured jet, radiative loss of energy, and decreasing microphysics parameters occurring in a circum-burst medium with densities varying by a factor of approximately two on a length scale of 10^17 cm. These density variations are normally associated with the environment of a massive star and inhomogeneities in its windy medium. However, the mean density of the observed medium (n approximately 10^&#8722;4 cm^3) is much less than that expected for a massive star. Although the collapse of a massive star as the origin of GRB 060313 is unlikely, the merger of a compact binary also poses problems for explaining the behavior of this burst. Two possible suggestions for explaining this scenario are: some short bursts may arise from a mechanism that does not invoke the conventional compact binary model, or soft late-time central engine activity is producing UV/optical but no X-ray flaring.Comment: 28 pages, 6 figures. Accepted for publication in ApJ. Clarifications made and typos correcte

β2-Adrenergic receptor promoter haplotype influences the severity of acute viral respiratory tract infection during infancy: a prospective cohort study.

BACKGROUND: Despite the significant interest in β2-Adrenergic receptor (ADRB2) polymorphisms related to asthma, whether ADRB2 genetic variants are similarly associated with acute respiratory tract infections have not been studied. We hypothesized that genetic variants in ADRB2 associated with a response to asthma therapy during an asthma exacerbation were also associated with severity of acute respiratory tract infections. METHODS: To test this hypothesis, we genotyped 5 common polymorphisms in the promoter region and coding block of the ADRB2 gene (loci -2387, -2274, -1343, +46, and +79) from 374 Caucasian and African American term infants who were enrolled at the time of acute respiratory illness over four respiratory viral seasons. Severity of respiratory tract infections was measured using a bronchiolitis severity score (BSS; range = 0-12, clinically significant difference = 0.5) with a higher score indicating more severe disease. We assigned the promoter, coding and combined promoter and coding haplotypes to the unphased genotype data. The associations between each of these five single-nucleotide polymorphisms (SNPs) as well as the haplotypes and infant BSS were analyzed using nonparametric univariate analysis and multivariable proportional odds model separately in Caucasians and African Americans. RESULTS: There was no significant association between infant BSS and each of the SNPs in both Caucasians and African Americans. However, promoter haplotype CCA was associated with a decreased BSS in African Americans in a dose dependent manner. The median (interquartile range) BSS of infants with no copies of the CCA haplotype, one copy, and two copies of the CCA haplotype were 5.5 (2.0, 8.0), 4.0 (1.0, 7.5), and 3.0 (1.0, 4.0), respectively. This dose dependent relationship persisted after adjusting for infant age, gender, daycare exposure, secondhand smoke exposure, prior history of breastfeeding, siblings at home, and enrollment season (adjusted odds ratio: 0.59, 95 % confidence interval: 0.36, 0.98). There was no similar protective relationship of haplotype CCA on severity of respiratory tract infections identified in Caucasians. CONCLUSIONS: ADRB2 genotype may be predictive of severity of acute respiratory tract infections in African Americans, and potentially identify a subset of infants who may respond to beta-agonist therapy

An audit of acute oncology services: patient experiences of admission procedures and staff utilisation of a new telephone triage system.

OBJECTIVES: In 2010, St. James Institute of Oncology (Leeds, UK) created a new acute oncology service (AOS) consisting of a new admissions unit with a nurse-led telephone triage (TT) system. This audit cycle (March 2011 and June 2013) evaluated patient experiences of the reconfigured AOS and staff use of the TT system. METHODS: Patient views were elicited via a questionnaire and semi-structured interviews. The TT forms were analysed descriptively evaluating completion and data quality, reported symptoms and their severity and advice given (including admission rates). RESULTS: Patients (n = 40) reported high satisfaction with the new AOS. However, 56 % of patients delayed 2 days or more before contacting the unit. In 2011, 26 % of all the admitted patients were triaged via the TT system; 133 TT forms were completed. In June 2013, 49 % of the admitted patients were triaged; 264 forms were completed. The most commonly reported symptoms on the TT forms were pain, pyrexia/rigors/infection, diarrhoea, vomiting and dyspnoea. Half of the patients using the TT system were admitted (52 % in 2011, 49 % in 2013). CONCLUSIONS: Our audit provided evidence of successful implementation of the TT system with the number of TT forms doubling from 2011 to 2013. The new AOS was endorsed by patients, with the majority satisfied with the care they received