The Bioethical Implications of Genetic Screening Programs for Rare Diseases

In the United States, there are currently thirty-five hereditary medical disorders that the Department of Health and Human Services recommends for newborn screening. The early diagnosis of these disorders is critical to the health and well-being of affected individuals. There are many more rare genetic diseases that would benefit from early diagnosis, but which do not symptomatically present until late in life or have low penetrance. Some of these genetic diseases are extremely dangerous, and would massively benefit from the early diagnosis that accompanies newborn screening in the United States. Here the benefits and risks associated with early screening for rare genetic diseases are analyzed, using the four fundamental principles of medical bioethics – autonomy, justice, beneficence, and nonmaleficence – as a guidelines and hereditary hemochromatosis as a case study. Hereditary hemochromatosis is the most common rare genetic disease in people of Caucasian descent; however, it is not on the United States newborn screening panel. Advanced disease can lead to liver and heart failure, osteoporosis, arthritis, and a variety of other severe and fatal conditions. After careful analysis, it is clear that the benefit of early diagnosis to affected individuals and scientific research as a whole far outweighs the minimal risks associated with screening for hereditary hemochromatosis. A basic plan for establishing a hereditary hemochromatosis screening program in the United States is then proposed, followed by steps for advocating the addition of other rare genetic diseases to the panel

A Property Law Reader: Cases, Questions and Commentary, 4th Edition, Preface and Table of Contents

Property law — that body of rules which describes and defines relationships between people with respect to things — involves many choices. The choices include determining when it is appropriate and desirable to label something as property or, more accurately, as subject to a relationship between people based in the rules of property law. The choices involve asking questions, including why it is that we create relationships based in property and who should benefit from them. The rules of property law are notoriously difficult and complex, and they frequently appear disjointed and unconnected, but they are not arbitrary. They are based on choices, sometimes made explicitly, other times implicitly, about what is important. One of our principal goals in this collection of property law materials is to emphasize that the making of choices is a necessary, although commonly under-acknowledged, element in creating a regime of property law. We have made a choice to highlight what Margaret Davies has described as ‘‘asking the why question”. This involves using materials that prompt not only an investigation of the rules of property law but also the justifications for those rules. Another choice we have made in compiling this material is to highlight the disparate sources of property law. Excerpts from the decisions of common law courts dominate the page count, and learning to derive the principles and the rules from these decisions is a core element in a common law legal education, but there is much else besides. We have chosen to emphasize Indigenous legal traditions as one of the sources of Canadian property law alongside the civil law tradition in Quebec and the common law tradition (including principles of equity) in the rest of the country. This presents challenges, not the least because the concept or category of property, as it has developed in western legal traditions, sits uneasily with many Indigenous legal traditions. But it is also a useful reminder that the rules governing human relationships with respect to things are not only jurisdictionally, but also culturally and historically specific. The law of property is also to be found in a great diversity of legislative instruments, ranging from city by-laws, through provincial and federal statutes and regulations, to international agreements. These sources are scattered throughout the volume, but using them presents other challenges. Within the Canadian federation, property is primarily a matter of provincial jurisdiction, and the diversity of property regimes among the provinces limits our capacity to delve into the particular statutory framework of any one jurisdiction when producing a set of materials that is relevant across Canadian common law jurisdictions. As a result, we include examples from different jurisdictions and leave it to course instructors to add as much or as little of what is particular to their jurisdictions as they think desirable

A role for liming as a conservation intervention? Earthworm abundance is associated with higher soil pH and foraging activity of a threatened shorebird in upland grasslands

The relationship between farmland bird populations and agricultural intensification has been well studied. However, the impact of variation in soil conditions and soil management is an exception, especially in upland (sub-alpine) farming systems. In this study, we examined the relationships between liming history, soil pH and patterns of foraging by Northern Lapwing,Vanellus vanellus, chicks in order to test the potential utility of soil amendment as a conservation intervention for shorebirds nesting in agricultural grasslands. Limed fields had higher soil pH than unlimed fields, and soil pH declined with the number of years since a field was last limed. The most important predictor of total earthworm abundance was soil organic matter with very few earthworms in peats of very high organic matter content. However, there was a marked additive effect of soil pH with earthworms more than twice as abundant at high (pH 6.0) as at the low (pH 3.5) extremes of soil pH recorded in the study. Specifically, at Lapwing chick foraging locations, the density ofAllolobophora chlorotica, an acid-intolerant species of earthworm found just below the surface of the soil, was significantly higher than at randomly selected locations. These results suggest that liming helped to maintain breeding habitat quality for Lapwings and other species dependent on earthworms. This is of conservation significance in upland agricultural grasslands in the UK, where there has been a long-term reduction in agricultural lime use since the mid-20th century. Field-scale trials of liming would be valuable to test whether targetted amendment of soil pH in agriculturally improved grasslands could retain an important role in conservation management for shorebirds in upland landscapes where geology, high rainfall, and leaching tend to acidify soils over time

Soil pH and organic matter content add explanatory power to Northern Lapwing Vanellus vanellus distribution models and suggest soil amendment as a conservation measure on upland farmland

Habitat associations of farmland birds are well studied, yet few have considered relationships between species distribution and soil properties. Charadriiform waders (shorebirds) depend upon penetrable soils, rich in invertebrate prey. Many species, such as the Northern Lapwing Vanellus vanellus, have undergone severe declines across Europe, despite being targeted by agri-environment measures. This study assessed whether there were additive effects of soil variables (depth, pH and organic matter content) in explaining Lapwing distribution, after controlling for known habitat relationships, at 89 farmland sites across Scotland. The addition of these soil variables and their association with elevation improved model fit by 55\%, in comparison with models containing only previously established habitat relationships. Lapwing density was greatest at sites at higher elevation, but only those with less peaty and less acidic soil. Lapwing distribution is being constrained between intensively managed lowland farmland with favourable soil conditions and upland sites where lower management intensity favours Lapwings but edaphic conditions limit their distribution. Trials of soil amendments such as liming are needed on higher elevation grassland sites to test whether they could contribute to conservation management for breeding Lapwings and other species of conservation concern that depend upon soil-dwelling invertebrates in grassland soils, such as Eurasian Curlew Numenius arquata, Common Starling Sturnus vulgaris and Ring Ouzel Turdus torquatus. Results from such trials could support improvement and targeting of agri-environment schemes and other conservation measures in upland grassland systems

Fodder crop management benefits Northern Lapwing (Vanellus vanellus) outside agri-environment schemes

To date, agri-environment schemes (AES) have had limited success in reversing biodiversity loss over greater spatial extents than fields and farms, and vary widely in their cost-effectiveness. Here, over nine years, we make use of the management initiative of a farmer in an upland livestock farming landscape in Scotland, undertaken wholly outside AES, to examine its effect on breeding densities of Northern Lapwing Vanellus vanellus. Management designed by the farmer involved planting a Brassica fodder crop for two consecutive years followed by reseeding with grass, with eight out of 17 fields at the farm undergoing this management since 1997. After controlling for other habitat parameters of importance, the density of breeding Lapwings was 52% higher in fields that had undergone fodder crop management than those that had not. Densities were highest in the first year after the fodder crop was planted, prior to reseeding with grass, but remained above levels in control fields for approximately seven years after the fodder crop was last planted. Very high Lapwing densities (modelled density = 1 pair ha-1) in the year after the fodder crop was planted likely result from the heterogeneous ground surface created by grazing of the crop providing an “attractive” nesting habitat. Continued high densities following reseeding with grass may partly be accounted for by philopatry, but the fact that they are field-specific also suggests that these fields continue to offer enhanced foraging conditions for several years. Fodder crop management was implemented at the study site to fatten lambs over winter and ultimately improve grass condition for grazing. This system is therefore based on active farming and benefits both the farmer and breeding Lapwings. As such, it may be possible to implement it more widely without the need for high agri-environment payments. More generally, it is an example of the land owner being actively involved in developing conservation solutions in partnership with environmental research, rather than being seen as a passive recipient of knowledge as has typically been the case with the design of AES. Such approaches need to be adopted more consistently in designing interventions for environmental outcomes on farmland, but may be of particular importance in the UK if the certainties of European Union AES are to come to an end

Using decision analysis to support proactive management of emerging infectious wildlife diseases

Despite calls for improved responses to emerging infectious diseases in wildlife, management is seldom considered until a disease has been detected in affected populations. Reactive approaches may limit the potential for control and increase total response costs. An alternative, proactive management framework can identify immediate actions that reduce future impacts even before a disease is detected, and plan subsequent actions that are conditional on disease emergence. We identify four main obstacles to developing proactive management strategies for the newly discovered salamander pathogen Batrachochytrium salamandrivorans (Bsal). Given that uncertainty is a hallmark of wildlife disease management and that associated decisions are often complicated by multiple competing objectives, we advocate using decision analysis to create and evaluate trade-offs between proactive (pre-emergence) and reactive (post-emergence) management options. Policy makers and natural resource agency personnel can apply principles from decision analysis to improve strategies for countering emerging infectious diseases

The Fitness Cost of Antibiotic Resistance in Streptococcus pneumoniae: Insight from the Field

Laboratory studies have suggested that antibiotic resistance may result in decreased fitness in the bacteria that harbor it. Observational studies have supported this, but due to ethical and practical considerations, it is rare to have experimental control over antibiotic prescription rates.We analyze data from a 54-month longitudinal trial that monitored pneumococcal drug resistance during and after biannual mass distribution of azithromycin for the elimination of the blinding eye disease, trachoma. Prescription of azithromycin and antibiotics that can create cross-resistance to it is rare in this part of the world. As a result, we were able to follow trends in resistance with minimal influence from unmeasured antibiotic use. Using these data, we fit a probabilistic disease transmission model that included two resistant strains, corresponding to the two dominant modes of resistance to macrolide antibiotics. We estimated the relative fitness of these two strains to be 0.86 (95% CI 0.80 to 0.90), and 0.88 (95% CI 0.82 to 0.93), relative to antibiotic-sensitive strains. We then used these estimates to predict that, within 5 years of the last antibiotic treatment, there would be a 95% chance of elimination of macrolide resistance by intra-species competition alone.Although it is quite possible that the fitness cost of macrolide resistance is sufficient to ensure its eventual elimination in the absence of antibiotic selection, this process takes time, and prevention is likely the best policy in the fight against resistance