Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature.

With the development of next generation sequencing, beyond identifying the cause of manifestations that justified prescription of the test, other information with potential interest for patients and their families, defined as secondary findings (SF), can be provided once patients have given informed consent, in particular when therapeutic and preventive options are available. The disclosure of such findings has caused much debate. The aim of this work was to summarize all opinion-based studies focusing on SF, so as to shed light on the concerns that this question generate. A review of the literature was performed, focusing on all PubMed articles reporting qualitative, quantitative or mixed studies that interviewed healthcare providers, participants, or society regarding this subject. The methodology was carefully analysed, in particular whether or not studies made the distinction between actionable and non-actionable SF, in a clinical or research context. From 2010 to 2016, 39 articles were compiled. A total of 14,868 people were interviewed (1259 participants, 6104 healthcare providers, 7505 representatives of society). When actionable and non-actionable SF were distinguished (20 articles), 92% of respondents were keen to have results regarding actionable SF (participants: 88%, healthcare providers: 86%, society: 97%), against 70% (participants: 83%, healthcare providers: 62%, society: 73%) for non-actionable SF. These percentages were slightly lower in the specific situation of children probands. For respondents, the notion of the «patient's choice¼ is crucial. For healthcare providers, the importance of defining policies for SF among diagnostic lab, learning societies and/or countries is outlined, in particular regarding the content and extension of the list of actionable genes to propose, the modalities of information, and the access to information about adult-onset diseases in minors. However, the existing literature should be taken with caution, since most articles lack a clear definition of SF and actionability, and referred to hypothetical scenarios with limited information to respondents. Studies conducted by multidisciplinary teams involving patients with access to results are sadly lacking, in particular in the medium term after the results have been given. Such studies would feed the debate and make it possible to measure the impact of such findings and their benefit-risk ratio.

Papel epidemiologico dos portadores saos de Staphylococcus Aureus como fonte de infeccao. / Epidemiologic role of healthy carriers of Staphylococcus aureus as source of infection

Neste estudo, procuramos verificar o possivel papel epidemiologico por portadores saos de Staphylococcus aureus isoladas da cavidade nasal e orofaringe de profissionais da saude, aparentemente sem afeccao das vias aereas superiores e 34 amostras isoladas de casos consecutivos de infeccao estafilococica hospitalar, ocorridos no mes imediatamente anterior e no mes imediatamente posterior a colheita do material de portadores. Os dados comparativos da fagotipagem das amostras de ambas as colecoes parecem comprovar a importancia dos portadores saos entre o pessoal de saude, como uma possivel fonte de infeccao

Epidemiology of Pseudomonas aeruginosa in a general hospital: a four-year study.

A retrospective study was done to determine the epidemiology of infection and/or colonization due to Pseudomonas aeruginosa in a Brazilian general hospital. In 1966, 1968, and 1969, there were only two instances where probable cross-contamination was shown; the remaining isolates were unrelated. In late 1971 the hospital experienced a marked increase in P. aeruginosa isolation. Contaminated dextrose solutions used in the infant feeding were the apparent cause of the problem which occurred in the premature and special care nurseries. A contaminated oxygen humidifying bottle was the source of a different outbreak in surgery. There was also evidence in four instances that cross-infection and/or contamination had occurred. Pyocin and serological typing revealed that many strains were involved and led to a clear understanding of the complex epidemiological relationships among all the strains.