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Purpose:We describe parental attitudes toward the return of targeted and incidental genomic research results in the setting of high-risk pediatric cancer and inherited childhood diseases.Methods:A validated 36-item questionnaire was mailed to participants in three large-scale genome research consortia examining attitudes toward receipt of genomic research results and the influence of certainty, severity, and onset of the condition, in addition to responsibilities to extended family and provision of results even after death of the proband.Results:Of the 563 participants who were sent questionnaires, 362 (64%) responded. Most of them stated a positive right to receive results related to the target condition (97%) or to incidental findings (86%); no difference was found in results between participants with cancer and those with orphan diseases. Furthermore, 92% indicated that genomic research for childhood-onset conditions should occur. The majority wanted incidental results predicting susceptibility even to untreatable fatal conditions (83%), to multiple conditions (87%), or to those with uncertain impact (70%). Most felt sibling genomic results showing serious conditions, whether treatable (93%) or not (88%), and/or results discovered after death of the proband should be shared with family (74%).Conclusion:Many parents of children in pediatric genomic research indicated a strong desire to receive a broader range of results than is described in consensus recommendations. Clear delineation of what will be offered should be established at the time of consent.Genet Med 16 8, 633–640.Genetics in Medicine (2014); 16 8, 633–640. doi:10.1038/gim.2013.201

Purpose:The purpose of this study was to explore the attitudes of genomics researchers in a pediatric setting in the context of regulatory guidance recommending the disclosure of clinically significant research findings.Methods:A validated 32-item questionnaire was sent to 107 researchers with two large-scale projects (the Canadian Pediatric Cancer Genome Consortium and the Finding of Rare Genes Canada Consortium). We examined researchers’ attitudes toward obligations to offer genomic research results (including if the participant was deceased, a relative, or a child), influence of the certainty/severity of the condition on this obligation, and personal experiences.Results:Of the 107 researchers, 74 (69%) responded. Researchers did not feel a strong responsibility to look for meaningful incidental results in the research genomic data set (n = 27, 37%). However, once identified, they felt participants had a strong right to receive them, irrespective of being incidental (n = 50, 68%) or primary targets (n = 64, 87%). There was a high degree of support for informing siblings of genomic results (n = 46, 62%), especially for treatable conditions (n = 56, 76%). Less than half of the participants indicated that their research ethics board required an offer of results (n = 34, 46%) or provided a detailed process (n = 16, 22%).Conclusion:Researchers strongly support the offer of targeted and incidental genomic research results to participants. Greater regulatory guidance is needed for a consistent approach.Genet Med 2013:15(7):558–564

The purpose of this study was to explore the attitudes of genomics researchers in a pediatric setting in the context of regulatory guidance recommending the disclosure of clinically significant research findings.

There have been an increasing number of clinical studies investigating the relationship between interindividual genetic variability and the safety and efficacy of opioid analgesics. Despite the widespread use of opioids in pregnant and lactating women for the treatment of acute pain, few studies have investigated the interplay of genetic factors and pregnancy-related physiological alterations in relation to opioid metabolism and response. Some interesting avenues of research require further pursuit- including evidence of cytochrome P450 2D6 (CYP2D6) induction during pregnancy and its effect on the generation of the active opioid metabolites morphine, oxymorphone, O-desmethyltramadol, and hydromorphone following the administration of codeine, oxycodone, tramadol, and hydrocodone respectively. Studies investigating the duration of maternal CYP2D6 induction after delivery are also needed to shed light on genotype to phenotype correlations in breastfeeding mothers using opioid analgesics in the postpartum period.

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The article discusses the consumer engagement in the health research process. It considers the traditional health research participants as important passive subjects of the researchers' investigation to one of participants as active partners in the research process. It provides numerous models of consumer-researcher partnership that cover the health research lifecycle from priority setting through dissemination of results and quality assurance.

The article explores the conflicting research ethics policies in Canada. It considers the Belmont Report, the Declaration of Helsinki, Council for International Organizations of Medical Sciences' (CIOMS) guidelines, International Conference on Harmonization-Good Clinical Practice (ICH-GCP) guidelines, and Tri-Council Policy Statement 1 (TCPS 1) and TCPS 2. It further notes their differences in scope, degree of detail, prescriptiveness and length.

The article focuses on the significance of Research Ethics Boards (REBs) and their challenges to the public in Canada. It notes that REBs review whether research protocol respects ethical standards to protect research participants' interest. It points out that at least one community member in the country is required on the REB. The list of public representatives may include non-scientific members, associates and a non affiliated person outside the organization.

In Canada, there are wide variations in services for patients at risk for hereditary breast and ovarian cancer (HBOC), and clinical interventions and recommendations differ between regions and/or provinces. National strategies for the clinical management of HBOC exist in the United Kingdom, France, and Australia, and clinical programs in Canada would benefit from similar national recommendations and a consistent approach to clinical management. The National Hereditary Cancer Task Force developed recommendations to address the clinical management of patients at high risk of HBOC and related cancers. These recommendations are based on current practice in high-risk cancer clinics that provide care for individuals with known BRCA1 or BRCA2 mutations.

Today it is common to conduct research in collaboration with colleagues from different disciplines and institutions. The INterdisciplinary HEalth Research International Team on BReast CAncer susceptibility (INHERIT BRCAs), involves Canadian and international experts from diverse fields working with health service providers, patients and collaborators from the World Health Organization and other European networks. Evidence-based information and knowledge transfer drive our efforts to advance genomic research to understand the genetic basis of cancer susceptibility and treatment response. Several goals reveal the interdisciplinary team approach: (a) to estimate the prevalence and penetrance of BRCA1 and BRCA2 mutations and their deleterious impact upon different populations; (b) to pinpoint novel breast cancer susceptibility loci; (c) to assess the efficacy of clinical interventions; (d) to address changes in quality of life and health-related behaviour from the decision to undergo genetics testing and during follow-up; (e) to evaluate legal, social and ethical implications; and, finally; (f) to promote professional and public education by facilitating the transfer of research findings to clinical practice and informing policy makers. The lessons learned by the INHERIT research team and future challenges are presented.

• We describe four children who died of suffocation by rubber balloons in Canada between 1983 and 1988. In the United States, at least 121 children have died in a similar manner in the 15 years between 1973 and 1988 according to a report by the US Consumer Product Safety Commission. Although the highest mortality occurred among infants, 30(25%) of the 121 deaths occurred in children 6 years of age or older. Balloons account for 43% of the approximately 15 childhood deaths related to children's products that are documented each year by the Consumer Product Safety Commission. Toy rubber balloons are thus the leading cause of pediatric choking deaths from children's products. Preventive efforts should be directed toward a ban on this type of balloon and the development of safer alternatives. Meanwhile, public information campaigns should alert parents, physicians, and policymakers to the dangers of toy rubber balloons.(AJDC. 1990;144:1221-1224)

Emerging technologies like Tandem Mass Spectrometry (TMS) enable multiple tests on a single blood sample and allow the expansion of Newborn Screening (NBS) to include various metabolic diseases. Introducing TMS for NBS raises important social and ethical questions: what are the criteria for adding disorders to screening panels? What evidence justifies expansion of screening? How can equity in NBS access and standards be ensured? How can policy standards be set, given the multiplicity of stakeholders? To address emerging issues, policy-makers, patient advocates, clinicians and researchers had a workshop during the 2005 Garrod Symposium. The participants received a summary of the discussion and understood the workshop’s goal was to provide a basis for further discussion. This article contributes to this ongoing discussion. Several proposed recommendations assert the centrality of including social and ethical issues in the assessment of whether or not to introduce TMS. The article outlines five key recommendations for advancing the NBS agenda: national public health leadership; transparency; increased national consistency in NBS strategy, including minimum standards; collaboration between the federal and provincial/territorial governments and diverse stakeholders; and supporting research and/or programs based on effectiveness, which integrate ethical and social issues into assessment. L’émergence de nouvelles technologies comme la spectrométrie de masse en tandem (MS/MS) permet d’effectuer plusieurs tests sur un même échantillon sanguin, ce qui accroît la portée du dépistage néonatal (DNN). L’utilisation de la MS/MS dans le cadre du DNN soulève d’importants enjeux sociaux et éthiques. Quels sont les critères permettant l’ajout de maladies aux programmes de dépistage? Comment justifier l’expansion du dépistage? Comment assurer l’équité de l’accès et des normes en matière de DNN? Comment élaborer des politiques normatives, étant donné la multiplicité des parties intéressées? Des décideurs, des défenseurs des droits des patients, des cliniciens et des chercheurs ont participé à un atelier lors d’un symposium organisé par la Garrod Association en 2005. Les participants ont reçu un résumé des débats et ont compris que l’atelier, tout comme le présent article, jetterait les bases d’une discussion ultérieure. Il est important d’inclure les enjeux sociaux et éthiques dans l’évaluation de l’utilisation de la MS/MS. Cet article expose cinq recommandations-clés concernant le DNN: leadership national en santé publique; transparence; uniformité des stratégies nationales, incluant des normes minimales; collaboration entre les gouvernements et les parties intéressées; et soutien à la recherche et/ou aux programmes efficaces qui tiennent compte des enjeux sociaux et éthiques.

AbstractFaced with rapid advances in human genetics, policy makers are struggling to come to grips with a host of complex ethical, legal and social questions. The HUMGEN website gives policy makers and the public access to legislation, policy, guidelines and recommendations of government and nongovernmental organizations worldwide.Copyright © 2001 S. Karger AG, Basel

The possible introduction of whole-genome sequencing into newborn screening programs should proceed with caution.

The use of genomic research has exploded in recent years. Various guidelines recommend disclosure of significant, clinically validated findings to participants. Continued debate in this area has led to calls for stakeholder involvement to inform policy. In particular, the attitudes of genomics researchers are salient yet relatively unexplored with respect to how the sharing of both targeted and incidental findings should be accomplished.All 107 researchers affiliated with two large-scale Genome Canada projects [Canadian Pediatric Cancer Genome Consortium (CPCGC) and the Finding of Rare Genes Canada Consortium (FORGE)] were surveyed using a mailed, validated 32-item questionnaire that had been pilot tested with genomics researchers. The survey was designed to cover a wide range of topics including attitudes of researchers to the return of incidental and targeted research results, the need for genetic counselling, responsibilities to participants over time, to child participants and to siblings of participants, and institutional ethics review. Two reminders were sent to non-respondents. Data were analyzed with descriptive statistics.74/107 (69%) responded. Most were between 41–55 yr of age (n=40, 54%) and had their most senior training inNorth America (n=67, 91%). The majority were experienced researchers (n=58, 78%) and felt comfortable in discussing genomic results with participants (n= 66, 89%). Respondents did not feel a strong responsibility to look for meaningful incidental results in the genomic data set they created (n=27, 37%). However, once potentially significant results were identified, researchers indicated that participants had a strong or very strong right to receive analytically validated genomic results irrespective of whether these results were incidental findings (n= 50, 68%) or primary targets of the research (n= 64, 87%). Most indicated that results with clinical utility that were actionable should be offered to participants (n=54, 73%) although some indicated that research results should not be returned under any circumstances (n=6, 8%). The majority felt that a research result should be confirmed in a clinical lab prior to return to participants (n=51, 69%). Most indicated that genetic counselling should be provided either almost always or frequently prior to genomic research participation (n=48, 64%). Respondents indicated that siblings of genomic research participants had a strong or very strong right to be informed of results (n=46, 62%), and this was especially true if an intervention to ameliorate the identified condition is feasible (n=56, 76%). A minority of researchers felt personal responsibility to ensure genomic research results obtained on a child of potential clinical utility were eventually communicated to him/her when the child became an adult (n=10, 14%). A slim majority felt the parents or health care provider should be responsible (n=38, 51%). Some researchers reported encountering incidental findings of clinical utility (n=25, 34%) and had offered them to participants. However, the minority reported that their institutional ethics review boards either always (n=10, 14%) or sometimes (n=24, 32%) required an offer of results. Only 16 (22%) indicated that their ethics board had a detailed process on how to do so.Researchers in general support the offer of return of targeted and incidental genomic research results to participants. A minority strongly oppose such action. There is typically a high degree of support for the offer of genomic research findings to siblings, especially if actionable. Given the new developments in genomics and resulting incidental findings, researchers describe little specific guidance about the process that should be followed in returning results to participants. Greater policy guidance would be of assistance in providing a consistent approach to the offer of incidental or targeted genomic research results.Funded by Genome Canada and the Canadian Institutes of Health Research.No relevant conflicts of interest to declare.

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