Health screening behaviors among adults with hereditary hemorrhagic telangiectasia in North America.

PURPOSE: This study aimed to identify factors that influence screening behaviors of adults with hereditary hemorrhagic telangiectasia (HHT). METHODS: Participants with a self-reported diagnosis of HHT were recruited from the HHT Foundation International, Inc.; the "HHT Awareness" Facebook group; and six HHT clinics. A cross-sectional mixed methods survey was administered to investigate the relationships among the Health Belief model constructs, the domains of illness representations, and HHT-specific screening behaviors consistent with recommended guidelines. RESULTS: A total of 320 participants reported rates of cerebral arteriovenous malformation (AVM) screenings, pulmonary AVM screenings, and HHT annual checkups that were 82.0, 67.1, and 56.5%, respectively. Logistical regression analysis showed that perceived barriers (ß = -0.114, P < 0.001), perceived susceptibility (ß = 0.117, P < 0.05), treatment control (ß = 0.078, P < 0.05), and emotional representations (ß = 0.067, P < 0.05) were significant predictors of HHT screening. Open-ended responses revealed perceived barriers to screening, including a lack of health-care providers (HCPs) familiar with and/or knowledgeable about HHT. CONCLUSION: Our results reveal suboptimal screening rates among adults with HHT and identify several factors influencing these behaviors. We suggest that there is a need for increased provider education regarding HHT as well as approaches that providers can use to improve screening adherence.Genet Med advance online publication 13 October 2016.

Genomics, personalized medicine, and pediatrics.

Genomic discoveries are advancing biomedicine at an ever-increasing pace. Pediatrics is near the epicenter of these discoveries, which are revising our understanding of the genome and its function. Since the completion of the Human Genome Project in 2003, dramatic reductions in the cost of genotyping, and more recently sequencing, have permitted the study of the genomes of a great number of species as well as humans. These studies have led to insights on gene regulation and the complex interplay of factors responsible for normal development and biology. Study of single-gene disorders has greatly benefited from the genomics revolution and tests are now available for well over 2000 Mendelian conditions; availability of these tests are changing screening and diagnosis paradigms for rare conditions. Genomics is also yielding an increased understanding of common conditions such as diabetes, obesity, asthma, cancers, and mental health conditions. Personalized medicine, an approach to care in which an individual's genomic information is used to help tailor interventions to maximize health outcomes, is rapidly becoming a reality for a variety of conditions. Though challenges remain in translating new genomic insights into improved patient health, today's pediatricians and their patients will increasingly benefit from this watershed moment in the biological sciences.

The National Children's Study--a proposed plan.

With its coordinated longitudinal biologic, environmental-exposure, and phenotypic data and samples, the National Children's Study is aiming to provide an important resource for understanding children's growth, development, and health.

We don't know what we don't study: the case for research on medication effects in pregnancy.

This Commentary addresses issues related to exposures to teratogens and makes the case for increased research into the safety of medication usage during pregnancy for mothers and fetuses. Not only are medications commonly used during pregnancy, but evidence points to an increasing prevalence and number of drug exposures experienced by the embryo or fetus, particularly during the critical first trimester of pregnancy. Although the first trimester represents a particularly vulnerable period of organogenesis, exposures during other gestational time periods may also be associated with deleterious outcomes. In addition to the changing (and in many cases unknown) risks to a developing fetus, other challenges to studying medication exposures and their effects during pregnancy include the dramatic changes in physiology that occur in pregnant women and the ethical dilemmas posed by including this vulnerable population in randomized controlled trials of safety and efficacy. However, without adequate knowledge of the pharmacokinetics, pharmacodynamics, efficacy, and safety of medication use in pregnancy, women may be under-dosed to minimize exposure or not treated at all, resulting in inadequate treatment and potential harm to the mother and her baby. The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) is undertaking studies on medications and teratogenic exposures during pregnancy, including alcohol, maternal diabetes, oral hypoglycemic agents, and antiviral medications, through several of its research networks. Although this is a start, there is a critical need for further research on medications used during pregnancy, especially their effects on both the mother and her developing child.

National Children's Study: update in 2010.

The National Children's Study will examine the effects of the environment and genetics on the growth, development, and health of children across the United States; it will follow participants from before birth until age 21 years. The goal of the study is to improve the health and well-being of children and contribute to understanding the roles various factors play in health and disease. Findings from the study will be made available as the research progresses, making potential benefits known to the public as soon as possible. A robust pilot study, or Vanguard Study, is underway to generate data for designing the subsequent Main Study. The goals of the Vanguard Study are feasibility, acceptability, and cost, and the goals of the Main Study will be exposure-response relationships and biological, environmental, and genetic interactions. The initial Vanguard Study experience among 7 study centers was successful in many ways, including delineating the topics to explore for the next phase of the Vanguard Study. Three different recruitment strategies are under evaluation to determine what approach to use for the Main Study. The organization of National Children's Study operations is currently based on a new decentralized business model.