Rare diseases affect nearly 300 million people globally with most patients aged five or less. Traditional diagnostic approaches have provided much of the diagnosis; however, there are limitations. For instance, simply inadequate and untimely diagnosis adversely affects both the patient and their families. This review advocates the use of whole genome sequencing in clinical settings for diagnosis of rare genetic diseases by showcasing five case studies. These examples specifically describe the utilization of whole genome sequencing, which helped in providing relief to patients via correct diagnosis followed by use of precision medicine.

Purpose The purpose of this paper is to highlight the indigenous need to counter self-harm behavior in Pakistan and establish the reliability and validity of scale with translation, adaptation and cross-language validation of the inventory of statements about self-injury (ISAS) for future health studies (Klonsky and Glenn, 2009). Design/methodology/approach The present study was a cross-sectional study using a quantitative method. Response items rating is made from three-point Likert-type scales ranging from the 0-not relevant, 1-somewhat relevant or 2-very relevant. ISAS has been comprised of 13 potential functions of deliberate self-harm (DSH) and all subscales have been translated from the English language into the Urdu language with a sample of 30 individuals and further applied on 200 samples of DSH patients for factorial validation. The standard back-translation method was used for translation and adaptation of the scale (Anderson and Brislin, 1976; Brislin, 1976; Hambleton, 1994). Findings The overall scale has good internal consistency reliability. Confirmatory factor analysis was performed to confirm the factorial validity of ISAS. Results revealed that all the items have confirmed strong factorial validity in the context of Pakistani culture and quite helpful in hospital settings to address this health issue. Originality/value Self-harm is considered as a major health issue in the young population of the world and therefore, the investigated scale provides an assessment of DSH and intentions of performing self-injury to achieve a better understanding of such behaviors in DSH patients, which will help further to develop measures to prevent such behavior.

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