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Utilize a genomic case study (other options) - Essay Example

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In 2013, a child came into the hospital suffering from an inherited, rare, and undiagnosed metabolic disorder, MCADD or medium chain acyl-coenzyme A dehydrogenase deficiency and, although he had seemed healthy at birth, failure to eat for too long made him vary sick and he…
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Download file to see previous pages ewborn and prenatal genomic screening, started in US hospitals with voluntary tests for PKU before it was made mandatory, especially as a response to lobbying by advocates for child rights. Newborn and prenatal screening began to be expanded to include whole genome testing to identify other congenital and inherited disorders. While most developed countries have made significant contributions to newborn and prenatal screening development, actual testing is still a hospital-based health activity (Tarini & Goldenberg, 2012). Currently, major hospitals have newborn and prenatal screening systems to offer initial screening, as well as follow up services for the children and their families. Because hospitals are the decision makers about the content and structure of the screening program, systems have multi-dimensional variance. For instance, a hospital may offer genomic screening for sickle cell disease, PKU, galactosemia, MCADD, and hypothyroidism, although they vary in how they select additional conditions. Hospitals also differ in how they make decisions about treatment protocol content, avail services for follow-up, and the extent of costs to the screened newborn’s family (Tarini & Goldenberg, 2012). Most hospitals, today, make the screening mandatory but fail to obtain informed consent from the parents.
Today, the heel-stick blood sample is utilized in programs for newborn and prenatal screening for all conditions except auditory impairment. However, in the past, a new lab blood test was always added when a new condition was added to the program. Tandem mass spectrometry was discovered in the 1990s and could test for MCADD, PKU, and various other disorders at the same time (Tarini & Goldenberg, 2012). It measures the levels in the blood of various products of metabolism, of which any abnormalities in metabolite levels are suggestive of disorders in metabolic activity. Children rights activists continue to press governments to take up and fund this technology and ...Download file to see next pagesRead More
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