Genetic counselling and testing in pulmonary arterial hypertension:a consensus statement on behalf of the International Consortium for Genetic Studies in PAH

Pulmonary arterial hypertension (PAH) is a rare disease that can be caused by (likely) pathogenic germline genomic variants. In addition to the most prevalent disease gene, BMPR2 (bone morphogenetic protein receptor 2), several genes, some belonging to distinct functional classes, are also now known to predispose to the development of PAH. As a consequence, specialist and non-specialist clinicians and healthcare professionals are increasingly faced with a range of questions regarding the need for, approaches to and benefits/risks of genetic testing for PAH patients and/or related family members. We provide a consensus-based approach to recommendations for genetic counselling and assessment of current best practice for disease gene testing. We provide a framework and the type of information to be provided to patients and relatives through the process of genetic counselling, and describe the presently known disease causal genes to be analysed. Benefits of including molecular genetic testing within the management protocol of patients with PAH include the identification of individuals misclassified by other diagnostic approaches, the optimisation of phenotypic characterisation for aggregation of outcome data, including in clinical trials, and importantly through cascade screening, the detection of healthy causal variant carriers, to whom regular assessment should be offered.</p

Prediction of atopy in the first year of life using cord blood IgE levels and family history

<p>Abstract</p> <p>We assessed correlations of total and specific cord-blood IgE (cIgE) levels with allergic symptoms in the first year of life. cIgE levels were determined by an immunoassay test in full-term neonates. This is a prospective study in which a questionnaire was used after birth, and at 6 and 12 months of age. We used multiple logistic regression models to assess the association between the family history of atopy and the incidence of allergy. The infants were divided in to groups based on the cIgE level (Group 1 < 0.1 IU/ml, n = 65; Group 2 0.1-0.5 IU/ml, n = 63; Group 3 > 0.5 IU/ml, n = 45). We found the symptoms of atopy in 26 children in Group 1 (40%), 30 (47.6%) in Group 2, and 17 (37.7%) in Group 3; the percentage of atopic diseases was in significantly different among the three groups. No association between a high total cIgE and specific cIgE with atopy family history and the outcome of atopic diseases was discovered. We conclude that neither total nor specific cIgE level with atopy family history can be used as an indicator to single out high risk infants.</p