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I attended the NSIGHT Ethics and Policy Advisory Board's meeting on sequencing newborns as a research associate in a joint apprenticeship between the University of California, San Francisco, Institute for Human Genetics and the university's Program in Bioethics. But I also came to the meeting with a deeply personal perspective: I had spent nearly my entire childhood in search of a diagnosis and therefore was eager to hear the board's discussion on how to ethically include genomic sequencing early in life. Genomic sequencing in the newborn period could have helped me avoid my diagnostic odyssey by revealing the cause of my condition shortly after birth.
This article was published in the following journal.
Name: The Hastings Center report
Despite a century of progress in medical knowledge, many diagnostic odysseys end in disappointment, especially when the child has a developmental disorder. In cases of autism and intellectual disabili...
Diagnosis of tuberculosis (TB) in infants is challenging due to non-specific clinical presentations of the disease in this age-group and low sensitivity of widely available TB diagnostic tools, which ...
Although cytology testing is considered a valuable method to diagnose tumors that are difficult to access such as hepato-biliary-pancreatic (HBP) malignancies, its diagnostic accuracy remains unclear....
According to the principle of horizontal equity, individuals with similar need may have the same possibility of access to health services. The aim of this study is to identify patterns of diagnostic s...
In this work, we study the mythological network of Odyssey of Homer. We use ordinary statistical quantifiers in order to classify the network as real or fictional. We also introduce an analysis of com...
A previous NAMDC survey study (NAMDC 7414 - Diagnostic Odyssey Survey, referred to hereafter as Odyssey1), provided a benchmark account of the substantial challenges faced by patients in a...
The goal of this collaborative research is to study human genomes in children with suspected congenital disease, multiple-congenital anomalies and/or multi-organ disease of unknown etiolog...
Urine analysis provide a promising non-invasive liquid biopsy for diagnosis of bladder cancer. Molecular biomarkers in urine may serve as important diagnostic and prognostic indicators for...
NYU Langone Health patients receive a call from a clinical care coordinator after they are discharged from the hospital (within 1-3 days). The current study is testing the efficacy of this...
There is no evidence available about which molecular profiling methods are currently used for cancer patients in Austrian clinical practice. The construction of the registry proposed as a ...
Laboratory testing and diagnostic imaging services offered to consumers outside of the patient-physician relationship.
Assessments aimed at determining agreement in diagnostic test results among laboratories. Identical survey samples are distributed to participating laboratories, with results stratified according to testing methodologies.
Allows patient diagnoses in the physician’s office, in other ambulatory setting or at bedside. The results of care are timely, and allow rapid treatment to the patient. (from NIH Fact Sheet Point-of-Care Diagnostic Testing, 2010.)
The process of gaining approval by a government regulatory agency for DIAGNOSTIC REAGENTS AND TEST KITS. This includes any required preclinical or clinical testing, review, submission, and evaluation of the applications and test results, and post-marketing surveillance.
A facility set up for the purpose of handling large volumes of telephone calls. Call Centers typically utilize some form of computer automation for receiving, dispatching, screening, logging and forwarding telephone calls.
Bioethics is the study of controversial ethics brought about by advances in biology and medicine. Bioethicists are concerned with the ethical questions that arise in the relationships among life sciences, biotechnology, medicine, politics, law, and philo...
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. During DNA sequencing, the bases of a small fragment of DNA are sequentially identified from signals emitted as each fragment is re-synthesized from a ...