Expanding the Australian Newborn Blood Spot Screening Program using genomic sequencing: do we want it and are we ready?

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.

Could COVID-19 mark a turning point for global action on climate change?

COVID-19 and climate change are both threats of immense proportions, however, the differing perception of climate change as far-off, projected and unpredictable, persists as a marked barrier to global action. COVID-19 is increasing awareness of the connection between human actions and environmental consequences. The current slowdown of fossil fuel use has given a glimpse of the quitter, cleaner and more caring world that effective climate change could also achieve. Decisions made in coming months can either "lock in" economic development patterns that will do permanent and escalating damage to the ecological systems, or, if wisely taken, can promote a healthier and greener world.

Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX.

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.

Estimating the Impacts of Local Policy Innovation: The Synthetic Control Method Applied to Tropical Deforestation.

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.

Land change in the southern Yucatán and Calakmul biosphere reserve: effects on habitat and biodiversity.

The southern Yucatán contains the largest expanse of seasonal tropical forests remaining in Mexico, forming an ecocline between the drier north of the peninsula and the humid Petén, Guatemala. The Calakmul Biosphere Reserve resides in the center of this region as part of the Mesoamerican Biological Corridor. The reserve's functions are examined in regard to land changes throughout the region, generated over the last 40 years by increasing settlement and the expansion and intensification of agriculture. These changes are documented from 1987/1988 to 2000, and their implications regarding the capacity of the reserve to protect the ecocline, forest habitats, and butterfly diversity are addressed. The results indicate that the current landscape matrix serves the biotic diversity of the reserve, with several looming caveats involving the loss of humid forests and the interruption of biota flow across the ecocline, and the amount and proximity of older forest patches beyond the reserve. The highly dynamic land cover changes underway in this economic frontier warrant an adaptive management approach that monitors the major changes underway in mature forest types, while the paucity of systematic ecological and environment-development studies is rectified in order to inform policy and practice.