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Since the introduction of genome sequencing in medicine, the factors involved in deciding how to integrate this technology into population screening programs such as Newborn Screening (NBS) have been widely debated. In Australia, participation in NBS is not mandatory, but over 99.9% of parents elect to uptake this screening. Gauging stakeholder attitudes towards potential changes to NBS is vital in maintaining this high participation rate. The current study aimed to determine the knowledge and attitudes of Australian parents and health professionals to the incorporation of genomic sequencing into NBS programs. Participants were surveyed online in 2016 using surveys adapted from previous studies. The majority of parents (90%) self-reported some knowledge of NBS, with 77% expressing an interest in NBS using the new technology. This was significantly lower than those who would utilise NBS using current technologies (99%). Although, many health professionals (62%) felt that new technologies should currently not be used as an adjunct to NBS, 79% foresaw the use of genomic sequencing in NBS by 2026. However, for genomic sequencing to be considered, practical and technical challenges as well as parent information needs were identified including the need for accurate interpretation of data; pre-and post-test counselling; and appropriate parental consent and opt-out process. Therefore, although some support for implementing genomic sequencing into Australian NBS does exist, there is a need for further investigation into the ethical, social, legal and practical implications of introducing this new technology as a replacement to current NBS methods.

Evidence linking coding germline variants in breast cancer (BC)-susceptibility genes other than BRCA1, BRCA2, and CHEK2 with contralateral breast cancer (CBC) risk and breast cancer-specific survival (BCSS) is scarce. The aim of this study was to assess the association of protein-truncating variants (PTVs) and rare missense variants (MSVs) in nine known (ATM, BARD1, BRCA1, BRCA2, CHEK2, PALB2, RAD51C, RAD51D, and TP53) and 25 suspected BC-susceptibility genes with CBC risk and BCSS. Hazard ratios (HRs) and 95% confidence intervals (CIs) were estimated with Cox regression models. Analyses included 34,401 women of European ancestry diagnosed with BC, including 676 CBCs and 3,449 BC deaths; the median follow-up was 10.9 years. Subtype analyses were based on estrogen receptor (ER) status of the first BC. Combined PTVs and pathogenic/likely pathogenic MSVs in BRCA1, BRCA2, and TP53 and PTVs in CHEK2 and PALB2 were associated with increased CBC risk [HRs (95% CIs): 2.88 (1.70-4.87), 2.31 (1.39-3.85), 8.29 (2.53-27.21), 2.25 (1.55-3.27), and 2.67 (1.33-5.35), respectively]. The strongest evidence of association with BCSS was for PTVs and pathogenic/likely pathogenic MSVs in BRCA2 (ER-positive BC) and TP53 and PTVs in CHEK2 [HRs (95% CIs): 1.53 (1.13-2.07), 2.08 (0.95-4.57), and 1.39 (1.13-1.72), respectively, after adjusting for tumor characteristics and treatment]. HRs were essentially unchanged when censoring for CBC, suggesting that these associations are not completely explained by increased CBC risk, tumor characteristics, or treatment. There was limited evidence of associations of PTVs and/or rare MSVs with CBC risk or BCSS for the 25 suspected BC genes. The CBC findings are relevant to treatment decisions, follow-up, and screening after BC diagnosis.

This report articulates a preservation recommendation forScholars Portal Dataversethat involves connecting institutional subscriber Dataverse repositories to robust and replicated long-term storage of datasets in theOntario Library Research Cloud(OLRC), ensuring a minimum level of reliable repository storage underlying Dataverse to support “preservation in place” (here understood as bit-level preservation and reliable fixity checking), while also providing those repositories with the ability to select datasets and create their ownArchival Information Packages(AIPs) via anArchivematicapipeline, which would support the more robust preservation activities required for the long-term maintenance of research data.

We describe a female with a 72 CGG FMR1 premutation (PM) (CGG 55–199) and family history of fragile X syndrome (FXS), referred for prenatal testing. The proband had a high risk of having an affected pregnancy with a full mutation allele (FM) (CGG > 200), that causes FXS through hypermethylation of the FMR1 promoter. The CGG sizing analysis in this study used AmplideX triplet repeat primed polymerase chain reaction (TP-PCR) and long-range methylation sensitive PCR (mPCR). These methods detected a 73 CGG PM allele in the proband’s blood, and a 164 CGG PM allele in her male cultured chorionic villus sample (CVS). In contrast, the Southern blot analysis showed mosaicism for: (i) a PM (71 CGG) and an FM (285–768 CGG) in the proband’s blood, and (ii) a PM (165 CGG) and an FM (408–625 CGG) in the male CVS. The FMR1 methylation analysis, using an EpiTYPER system in the proband, showed levels in the range observed for mosaic Turner syndrome. This was confirmed by molecular and cytogenetic karyotyping, identifying 45,X0/46,XX/47,XXX lines. In conclusion, this case highlights the importance of Southern blot in pre- and postnatal testing for presence of an FM, which was not detected using AmplideX TP-PCR or mPCR in the proband and her CVS.

Projects to reduce emissions from deforestation and degradation (REDD) are designed to reduce carbon emissions through avoided deforestation and degradation, and in many cases, to produce additional community and biodiversity conservation co-benefits. While these co-benefits can be significant, quantifying conservation impacts has been challenging, and most projects use simple species presence to demonstrate positive biodiversity impact. Some of the same tools applied in the quantification of climate mitigation benefits have relevance and potential application to estimating co-benefits for biodiversity conservation. In western Tanzania, most chimpanzees live outside of national park boundaries, and thus face threats from human activity, including competition for suitable habitat. Through a case study of the Ntakata Mountains REDD project in western Tanzania, we demonstrate a combined application of deforestation modelling with species distribution models to assess forest conservation benefits in terms of avoided carbon emissions and improved chimpanzee habitat. The application of such tools is a novel approach that we argue permits the better design of future REDD projects for biodiversity co-benefits. This approach also enables project developers to produce the more manageable, accurate and cost-effective monitoring, reporting and verification of project impacts that are critical to verification under carbon standards.

Previous research has shown that polygenic risk scores (PRSs) can be used to stratify women according to their risk of developing primary invasive breast cancer. This study aimed to evaluate the association between a recently validated PRS of 313 germline variants (PRS313) and contralateral breast cancer (CBC) risk. We included 56,068 women of European ancestry diagnosed with first invasive breast cancer from 1990 onward with follow-up from the Breast Cancer Association Consortium. Metachronous CBC risk (N = 1,027) according to the distribution of PRS313 was quantified using Cox regression analyses. We assessed PRS313 interaction with age at first diagnosis, family history, morphology, ER status, PR status, and HER2 status, and (neo)adjuvant therapy. In studies of Asian women, with limited follow-up, CBC risk associated with PRS313 was assessed using logistic regression for 340 women with CBC compared with 12,133 women with unilateral breast cancer. Higher PRS313 was associated with increased CBC risk: hazard ratio per standard deviation (SD) = 1.25 (95%CI = 1.18-1.33) for Europeans, and an OR per SD = 1.15 (95%CI = 1.02-1.29) for Asians. The absolute lifetime risks of CBC, accounting for death as competing risk, were 12.4% for European women at the 10th percentile and 20.5% at the 90th percentile of PRS313. We found no evidence of confounding by or interaction with individual characteristics, characteristics of the primary tumor, or treatment. The C-index for the PRS313 alone was 0.563 (95%CI = 0.547-0.586). In conclusion, PRS313 is an independent factor associated with CBC risk and can be incorporated into CBC risk prediction models to help improve stratification and optimize surveillance and treatment strategies. ispartof: AMERICAN JOURNAL OF HUMAN GENETICS vol:107 issue:5 pages:837-848 ispartof: location:United States status: published

Le présent documentaidera les chercheurs canadiens à choisir un dépôt quidonnera un accès immédiat et à long terme à leurs données sur la COVID‑19.

Cette directive a pour but d’aider les chercheurs à minimiser les risques de divulgation quand ils partagent des données recueillies auprès de participants humains.

Le guide repose sur les recommandations duCOVID-19 Working Groupde laResearch Data Alliance(RDA):Recommendations and Guidelines for Data Sharing.Ces recommandations ont été conçues pour aider les chercheurs à se doter de bonnes pratiques pour le partage de données dans leur discipline età maximiser l’impact de leur travail.Ce guide s'est inspiré en partiepar lestravaux précédentsdeTayler etRipp (2020)FAQ: Partage et dépôt de données en appui à une intervention rapide face à la COVID-19.

Cette guide aide les chercheurs à préparer leur documentation pour les dépôts.

Cet arbre décisionnel a été conçu pour aider les chercheurs canadiens à repérer les situations où les données de participants doivent être dépersonnalisées ou rendues anonymes avant d’être consignées dans un dépôt. Il repose considérablement sur l’Énoncé politique des trois conseils: Éthique de la recherche avec des êtres humains — EPTC 2 (2018). Cet énoncé canadien porte sur le consentement et l’utilisation secondaire des données dans la recherche.

The guidance below is intended to help Canadian researchers minimize disclosure risk when sharing data collected from human participants. If you use any of the following techniques to anonymize your data, please include this information in yourdocumentation and README file.For transparency, it should be clear how the dataset was modified to protect study participants.&nbsp

The speed with which COVID-19 research is being produced and shared only increases the need for good documentation and description. It may be necessary to make available the results of preliminary trials or unprocessed datasets, which may be difficult for fellow researchers to interpret without contextual information. This guide is a reminder of how to frame research so that it remains usable and understandable by others.

During a pandemic, rapid access to the latest data informs public health response and helps save lives. Preserving these data for future use can also help to clarify the long-term economic, political, and cultural impacts of public health and policy decisions, and may inform the response to future pandemics. Use this document to help select a repository that will provide immediate and long-term access to COVID-19 data.

"Can I Share My Data?" is designed to bea quick andeasy-to-usedecision tree toalert Canadian researchersto situations where research dataderived from human participants either may not be shared publicly or may require some modification before sharing. It relies heavily on the CanadianTri-Council Policy Statement: Ethical Conduct for Research Involving Humans - TCPS 2 (2018)which addresses consent and secondary use of information for research purposes.

Chimpanzees, like all great ape species, have experienced a dramatic decline in global numbers during the past decades. The degradation, fragmentation and loss of suitable habitat impede chimpanzee movements, reducing the potential for dispersal and thus population viability. In Tanzania, 90% of the 2000–3000 remaining chimpanzees are found within the Greater Mahale Ecosystem (GME), the majority of which live at low densities outside of national park boundaries. Recent genetic analyses have identified potential boundaries between the northern and southern populations of the GME. Using landscape connectivity modelling, we aimed to clarify population connectivity across this vast ecosystem (>20,000 km2) and assess change over time. We developed habitat suitability models to create an index of habitat selection by chimpanzees and mapped connectivity using circuit theory. Our results suggest that, in recent history (1973), the entire ecosystem was linked by a series of corridors showing a high likelihood of chimpanzee movement. Our analysis also reveals a reduction of connectivity by 2017 impacting the two corridors linking the northern and southern GME. When projected to 2027, areas contributing to connectivity are predicted to continue to decline, threatening all available corridors between the northern and southern GME. By modelling connectivity across time, we were able to identify key areas to focus conservation efforts to maintain population viability within the largest chimpanzee population in Tanzania.

Quasi-experimental methods increasingly are used to evaluate the impacts of conservation interventions by generating credible estimates of counterfactual baselines. These methods generally require large samples for statistical comparisons, presenting a challenge for evaluating innovative policies implemented within a few pioneering jurisdictions. Single jurisdictions often are studied using comparative methods, which rely on analysts’ selection of best case comparisons. The synthetic control method (SCM) offers one systematic and transparent way to select cases for comparison, from a sizeable pool, by focusing upon similarity in outcomes before the intervention. We explain SCM, then apply it to one local initiative to limit deforestation in the Brazilian Amazon. The municipality of Paragominas launched a multi-pronged local initiative in 2008 to maintain low deforestation while restoring economic production. This was a response to having been placed, due to high deforestation, on a federal “blacklist” that increased enforcement of forest regulations and restricted access to credit and output markets. The local initiative included mapping and monitoring of rural land plus promotion of economic alternatives compatible with low deforestation. The key motivation for the program may have been to reduce the costs of blacklisting. However its stated purpose was to limit deforestation, and thus we apply SCM to estimate what deforestation would have been in a (counterfactual) scenario of no local initiative. We obtain a plausible estimate, in that deforestation patterns before the intervention were similar in Paragominas and the synthetic control, which suggests that after several years, the initiative did lower deforestation (significantly below the synthetic control in 2012). This demonstrates that SCM can yield helpful land-use counterfactuals for single units, with opportunities to integrate local and expert knowledge and to test innovations and permutations on policies that are implemented in just a few locations.