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Introduction: Thirteen years after the completion of the human genome project, the determination of the genomic sequence of the coding parts of the DNA (the exones, hence the exome), has turned into a primary diagnostic tool in daily use in clinical practice. The Department of Genetics at Hadassah was the first in Israel to introduce exome analysis as a robust diagnostic tool into the pediatric departments. Till now 2600 exomes were analyzed at Hadassah, 850 of them in 2016 alone. Exome analysis is cheap and fast, enabling precise and non-invasive diagnosis for a vast array of genetic disorders and congenital malformations. The unique composition of the population which the hospital serves (marked by a high rate of consanguinity) enabled reaching diagnosis in 65% of the cases, twice the rate in medical centers worldwide. The results of this analysis enable genetic counseling to patients' families and prevention of serious disorders. Moreover, the results contribute to the understanding of the biological basis of newly identified disorders and in certain cases assist in the management of the patients. The major limitation of exome analysis is the multitude of identified variants which exist in any individual and which challenge our ability to pick the disease-causing variant. In the case of a disease-causing variant in a new gene, experimental proof is required to validate the causality of the variant; occasionally, an incidental finding with possible clinical significance is identified, raising serious ethical concerns. In this article, we will review the use of this technology through the experience of three pediatric departments at Hadassah.

Unlabelled: Referral letters to pediatric emergency departments (ED) may be an important source of information available to the emergency department staff. This mode of communication has been subject to relatively few studies., Objectives: Our objective was to canvass the expectations of ED physicians from referral letters and contrast these expectations with the actual content of referral letters., Methods: A questionnaire containing different items of information that may appear in referral letters was distributed to ED pediatricians. The physicians scored these items and were asked to add other items that should, in their opinion, appear in referral letters. Scores given to the items ranged from "not important" (score = 1) to "very important" (score = 5). Information regarding the physician's experience in the field of pediatrics was obtained. Subsequently, sequential referral letters were collected from a pediatric ER. These letters were analyzed with respect to the items scored in the first part of the study. Letters were stratified to handwritten and form letters, and by language., Results: A total of 21 physicians participated in the study. The mostly valued pieces of information were clinical information (principal complaint, physical examination prior to referral, past medical history) as well as demographic data and information regarding the referring physician. Lower scores were given to items regarding socioeconomic background of the patient, immunizations and tentative diagnosis. A total of 299 letters were collected. Items missing in more than 50 percent of letters were: socioeconomic background, family medical history, allergies, immunizations, current medications, referring physician's phone number, past medical history. Form letters contained more information than handwritten letters., Conclusion: Referral letters to pediatric ED's do not live up to the expectations of the receiving physicians. Specific expectations from, and shortcomings of letters may be pinpointed and addressed.