Exploring the unknown: assumptions about allelic architecture and strategies for susceptibility variant discovery

Identification of common-variant associations for many common disorders has been highly effective, but the loci detected so far typically explain only a small proportion of the genetic predisposition to disease. Extending explained genetic variance is one of the major near-term goals of human genetic research. Next-generation sequencing technologies offer great promise, but optimal strategies for their deployment remain uncertain, not least because we lack a clear view of the characteristics of the variants being sought. Here, I discuss what can and cannot be inferred about complex trait disease architecture from the information currently available and review the implications for future research strategies

Application of Social Network Analysis to Health Care Sectors

Objectives: This study aimed to examine the feasibility of social network analysis as a valuable research tool for indicating a change in research topics in health care and medicine. Methods: Papers used in the analysis were collected from the PubMed database at the National Library of Medicine. After limiting the search to papers affiliated with the National Institutes of Health, 27,125 papers were selected for the analysis. From these papers, the top 100 non-duplicate and most studied Medical Subject Heading terms were extracted. NetMiner V.3 was used for analysis. Weighted degree centrality was applied to the analysis to compare the trends in the change of research topics. Changes in the core keywords were observed for the entire group and in three-year intervals. Results: The core keyword with the highest centrality value was “Risk Factor, ” followed b

DNA, Data and Ethics

The biophysical differences between different kinds of DNA data banks are described. The different ethical implications of DNA fingerprint data banks, data banks of known gene sequences, and data banks of total genomic sequences are considered. Ethical approaches using the concept of the common good and those based on human rights are evaluated in the context of DNA data. Additional theological considerations are discussed. In conclusion, a 'one size fits all' approach to bioethics in this area is rejected

Saving Money on Health Insurance Just Got a lot Easier . . . Or Did It?: The Preserving Employee Wellness Programs Act and its Impact on the Future of Employee Health

This Note addresses the growing use of employer-sponsored wellness programs in the American workplace and the concomitant harms and risks these programs impose on employee privacy and insurance costs. Specifically, this Note analyzes the Preserving Employee Wellness Programs Act (PEWPA)—a proposed law that would allow employers to require employees to disclose genetic information to qualify for an employer-sponsored wellness program (and the program’s associated insurance premium benefits). This Note ultimately argues that employees and employee advocacy groups must work to thwart PEWPA to preserve employee privacy in the face of mounting corporate pressure to alter the structure of employer-sponsored health insurance

Linking Structural Racism and Discrimination and Breast Cancer Outcomes: A Social Genomics Approach

We live in a society where individuals and communities are marginalized because of their race or ethnicity. This structural inequity extracts enormous health and societal costs, decreasing access to cancer care and increasing health disparities, especially among the most vulnerable. In an effort to identify causes of disparities, we have incorporated individual sociodemographic characteristics (eg, income and education) and other social determinants of health (eg, access to care, insurance, and transportation needs), as well as biologic markers (eg, genetic predisposition to disease) that can serve as therapeutic targets into our research

Hereditary pancreatitis in children: surgical implications with special regard to genetic background.

PURPOSE: Hereditary pancreatitis (HP) is the primary etiology of chronic pancreatitis during childhood, progressing through recurrent episodes of acute pancreatitis and finally leading to pancreatic insufficiencies. Hereditary pancreatitis is because of mutations of the cationic trypsinogen (PRSS1) gene. Some other genes, such as SPINK1 or CFTR, have been associated with familial idiopathic chronic pancreatitis. The aim of our study was to clearly define diagnostic and therapeutic strategies for HP patients, through an analysis of our study group and a review of the literature. METHODS: All children admitted from 1995 to 2007 with a final diagnosis of hereditary pancreatitis were restrospectively included in the study. We analyzed all medical records with special attention given to cases involving genetic screening (PRSS1, SPINK1, and CFTR genes). RESULTS: Ten children were included. Eight had HP with PRSS1 mutation, 2 of them without a familial history of chronic pancreatitis. The 2 others patients had SPINK1 mutations. Three HP patients were operated on for acute complications of pancreatitis and are well with a mean follow-up of 5.5 years. No patient had pancreatic insufficiencies or weight loss. CONCLUSIONS: Hereditary pancreatitis is associated with severe pancreatitis, with a greater risk of developing pancreatic cancer. It must therefore be diagnosed correctly and treated to prevent its considerable complications

Neurotoxicité des pesticides : quel impact sur les maladies neurodégénératives ?

Several epidemiological studies suggest that pesticides could lead to neurodegenerative diseases such as Parkinson\u27s and Alzheimer\u27s diseases. Among pesticides, insecticides appear more neurotoxic than others but the neurotoxic mechanisms leading to adverse health effects remain unclear. The currently used pesticides such as rotenone and paraquat could disrupt mitochondrial bioenergetic function, reactive oxygen metabolism, redox function and promote alpha-synuclein aggregation. In addition, recent studies demonstrate that genetic susceptibility to Parkinson\u27s disease could monitor pesticide susceptibility, as demonstrated for polymorphisms in pesticide metabolizing enzymes that are involved in organophosphorus sensitivity

Previvors

Individuals who are not yet sick, but who have a genetic predisposition to disease, often identify as previvors\u27 a combination of the terms predisposition and survivor. The previvor experience challenges many of the traditional expectations related to the provision of medical care and individual decision making. This article is the first to define the term \u27`previvor for the legal literature and the first to examine the role of law in previvor decision making. In essence, this project uses previvorship as a case study to demonstrate how the practice of medicine and medical decision making is evolving to render current law and policy increasingly inapplicable to modern medical practice. It concludes that the legal doctrine of informed consent is inappropriate to ensure adequate medical decision making, as exemplified by the previvor experience. The doctrine\u27s overemphasis on risk-based disclosures and its failure to address medical uncertainty is representative of the hazards of relying on the biomedical model of disease. Rather, we should begin to envision a legal doctrine that supports a robust shared decision-making approach to truly address individual preferences and values, the increasing complexity of risk/benefit assessment, and inherent (and sometimes irreducible) uncertainty