Preservation of the genetic diversity of sour cherry in Iran is imperative for the development of improved cultivars tailored to specific ecological conditions. Addressing gaps in research concerning ecological adaptation, resource management and international collaboration related to sour cherry genetic resources in Iran is essential. Bridging these research lacunae can facilitate the implementation of sustainable cultivation practices, optimize production systems and enhance the global utilization of sour cherry genetic diversity. A comprehensive analysis of the morphology and ultrastructure of pollen grains from ten native sour cherry genotypes in Iran was conducted over a two-year period using scanning electron microscopy (SEM). The examination revealed that all pollen grains were unipolar, radially symmetrical and tricolpate. The length and width of pollen grains varied among genotypes, with lengths ranging from 42.17 to 57.57 μm and widths from 20.28 to 28.13 μm. Furthermore, all genotypes exhibited prolate pollen grains, with differing colpus lengths. Examination of pollen exine revealed striate shapes with varying numbers of ridges, ranging from 18.5 to 8.5 furrows per 50 m2. The horizontal area of pollen grains varied from 333.28 to 1491.69 μm. Polar perspective analysis showed considerable variation in the distance between mesocolpium endpoints. Sour cherry displays significant genetic diversity in Iran, and the application of SEM has proven instrumental in characterizing this diversity. This understanding will aid in further breeding research aimed at enhancing sour cherry varieties and their adaptation to specific ecological conditions.

The paper aims to present a critical analysis of the phenomenon and notion of exceptionalism in bioethics. The authors demonstrate that exceptionalism pertains to phenomena that are not (yet) entirely familiar to us and could potentially bear risks regarding their regulation. After an overview of the state of the art, we briefly describe the origins and evolution of the concept, compared to exception and exclusion. In the second step, they look at the overall development debates on genetic exceptionalism, compared to other bioethical debates on exceptionalism, before presenting a detailed analysis of a specific case of early regulation of genetic screening. In the last part, the authors explain the historical background behind the connection between exceptionalism and exclusion in these debates. Their main conclusion is that while the initial stage of the discussion is shaped by the concept of exceptionalism and awareness of risks of exclusion, the later development centers around exceptions that are needed in detailed regulatory procedures.

In this paper, we ask whether or not we can afford to realize the potential benefits of genetic testing as a screening tool for adoptees. Our method is to provide reasonable cost and savings estimates. We argue that the prospect of cost neutrality should be sufficient to explore the targeted screening for a population who will otherwise suffer an avoidable health disparity in access to inherited disease information. Our goal here is to establish that the investment needed to attain these benefits is not beyond our means.

A 24-year-old woman with a history of idiopathic dilated cardiomyopathy status post heart transplant gave birth to a healthy term female infant. At 5 months of age, the infant was diagnosed with severe left ventricular dysfunction with an ejection fraction of 18% and moderate non-compaction of the left ventricle. She received a heart transplant at 7 months of age. Familial dilated cardiomyopathy was diagnosed. Genetic testing revealed a likely pathogenic variant in the TPM1 gene. Fetal cardiac screening is critical for offspring of heart transplant recipients, especially when the reason for transplant was cardiomyopathy. Early genetic consultation and counselling is necessary for all heart transplant recipients, preferably prenatally. Postnatal screening of offspring is essential at birth, at 3-month intervals until 1 year of age, and then annually until the risk for familial cardiomyopathy is assessed.

Objectives and Methods: Many authors have argued that ethical, legal, and social issues (“ELSIs”) should be explicitly integrated into health technology assessment (HTA), yet doing so poses challenges. This discussion may be particularly salient for technologies viewed as ethically complex, such as genetic screening. Here we provide a brief overview of contemporary discussions of the issues from the HTA literature. We then describe key existing policy evaluation frameworks in the fields of disease screening and public health genomics. Finally, we map the insights from the HTA literature to the policy evaluation frameworks, with discussion of the implications for HTA in genetic screening.

Results and Conclusions: A critical discussion in the HTA literature considers the definition of ELSIs in HTA, highlighting the importance of thinking beyond ELSIs as impacts of technology. Existing HTA guidance on integrating ELSIs relates to three broad approaches: literature synthesis, involvement of experts, and consideration of stakeholder values. The thirteen key policy evaluation frameworks relating to disease screening and public health genomics identified a range of ELSIs relevant to genetic screening. Beyond straightforward impacts of screening, these ELSIs require consideration of factors such as the social and political context surrounding policy decisions. The three broad approaches to addressing ELSIs described above are apparent in the screening/genomics literatures. In integrating these findings we suggest that the method chosen for addressing ELSIs in HTA for genetic screening may determine which ELSIs are prioritized; and that an important challenge is the lack of guidance for evaluating such methods.

Objectives: The Human Genome Project has led to a multitude of new potential screening targets on the level of human DNA. The aim of this systematic review is to critically summarize the evidence from health economic evaluations of genetic screening in the literature.

Methods: Based on an extensive explorative search, an appropriate algorithm for a systematic database search was developed. Twenty-one health economic evaluations were identified and appraised using published quality criteria.

Results: Genetic screening for eight conditions has been found to be investigated by health economic evaluation: hereditary breast and ovarian cancer, familial adenomatous polyposis (FAP) colorectal cancer, hereditary nonpolyposis colorectal carcinoma (HNPCC), retinoblastoma, familial hypercholesterolemia, hereditary hemochromatosis, insulin-dependent diabetes mellitus, and cystic fibrosis. Results range from dominated to cost-saving. Population-wide genetic screening may be considered cost-effective with limited quality of evidence only for three conditions. The methodology of the studies was of varying quality. Cost-effectiveness was primarily influenced by mutation prevalence, genetic test costs, mortality risk, effectiveness of treatment, age at screening, and discount rate.

Conclusions: Health economic evidence on genetic screening is limited: Only few conditions have properly been evaluated. Based on the existing evidence, healthcare decision makers should consider the introduction of selective genetic screening for FAP and HNPCC. As genetic test costs are declining, the existing evaluations may warrant updating. Especially in the case of hereditary hemochromatosis, genetic population screening may be about to turn from a dominated to a cost-effective or even cost-saving intervention.

A statistical model and analysis for genetic and environmental effects in twin-family data are presented. The model is used to derive expressions for phenotypic correlations of 22 essential pair relationships in twin-family units. The analysis proceeds in two steps. First, differential effects of sex, generation, and sex-zygosity of twin-family units and correlations due to cluster sampling are eliminated from correlation data. Then, estimates and tests of model parameters are calculated from the adjusted data. The theory and methods were developed for a Swedish twin-family study of many behaviors possibly related to the smoking habit. There, it is important to screen for behaviors that clearly are under genetic control and to assess relative influences of various biological and social environments on the development of all behaviors. Height data from the Swedish study are used to illustrate concepts and methods presented in this paper.