Essay Example on Newborn screening NBS is the most widely Used

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Newborn screening NBS is the most widely used form of genetic testing in the U S and is mandated by individual states Anderson Rothwell Botkin 2011 Shortly after birth each infant's heel is pricked to draw blood for NBS This heel prick is usually performed by a nurse or a phlebotomist who then places the blood on a specimen card and submits the card to the appropriate laboratory Riley 2012 NBS is done during the first few days of life in order to screen infants for certain disorders that with treatment or lifestyle changes can have decreased morbidity and improved mortality Anderson et al 2011 NBS began in the 1960s when Robert Guthrie a microbiologist designed the heel stick blood test to screen for phenylketonuria PKU which causes irreversible intellectual disability if not controlled with a restrictive diet



President's Council on Bioethics 2008 PKU screening was required in all 50 states by the end of the 1970 s Riley 2012 In more recent years newborn screening has expanded to screen for more disorders due to increasing research evidence and advances in technology new technology includes tandem mass spectrometry which allows several disorders to be screened for in one test Anderson et al 2011 In 2005 the American College of Medical Genetics and Genomics released a list of 29 recommended core conditions that NBS should screen for in each state President's Council on Bioethics 2008 Since the release of this recommendation for a uniform screening panel the number of disorders screened for at birth has increased Today individual states screen for between 30 and 69 disorders with a mean of 47 74 and a median of 50 disorders screened per state Baby's First Test 2018 The rationale of these screening tests is arguably no longer screen to treat some screenings are for disorders that are not completely understood and that do not currently have an effective treatment President's Council on Bioethics 2008 With the expansion of newborn screening false positive results have also become more common

A false positive result is defined as when the infant screens positive but is confirmed to not have the disease condition after follow up screening or diagnostic testing Riley 2012 p 6 Ideally a screening test would be both highly sensitive and highly specific In NBS sensitivity is defined as a test s ability to successfully identify all infants with a specific disorder while the level of specificity is the test s ability to pick up only true positives and false positives President's Council on Bioethics 2008 Screening tests are preferred to have high sensitivity in order to pick up all affected individuals This means that specificity is sometimes sacrificed and many false positive results occur As many as 100 false positive results may occur for every infant identified to have a condition Anderson et al 2011 Due to the large number of false positives it is important to understand that a positive screening result is not a diagnosis President's Council on Bioethics 2008 Screening results are either confirmed or disproven by follow up diagnostic tests False positive results can occur for a number of different reasons Newborn screening tests measure the levels of certain substances in the blood therefore things that cause a substance to be higher or lower than expected can cause a FP result Situations that may cause an abnormal newborn screening result include the baby not eating enough before the screen heat exposure of the specimen too small of a blood sample or if the blood for the screening test was collected too early Baby's First Test 2018 NBS for cystic fibrosis which screens for IRT a chemical produced by the pancreas may have a false positive result due to situations that cause high levels of IRT in the baby s body

These include a stressful delivery prematurity and other reasons Cystic Fibrosis Foundation and A baby may also have a false positive NBS for cystic fibrosis if he or she has one CF gene mutation meaning the baby is a carrier of cystic fibrosis Cystic Fibrosis Foundation n d Carriers can pass the disease on to their future children but do not have the condition themselves Parents may believe that being released from the hospital with their newborn is indicative of a clean bill of health Some parents may not know that their newborn underwent NBS until they receive a positive screening result Anderson et al 2011 Parens patriae meaning parent of the country is a legal principle that allows states to practice certain responsibilities of parents as long as it benefits the child and society Anderson et al 2011 This means that newborns can undergo NBS without parental consent the state acts as the guardian instead Parents are often provided educational materials regarding NBS but not actively educated on the process and what the results mean President's Council on Bioethics 2008


This may lead to stress when parents receive positive NBS results During the interval between receiving a positive NBS result and receiving a negative diagnostic test parents may experience distress and view their child differently Duff Brownlee 2008 The effects on parents of newborns with false positive NBS becomes of greater interest with the expansion of number of tests and number of false positive results This impact should be explored in order to determine the extent of future policies concerning the provision of NBS services and the education parents receive prior to receiving the screening results It is also important for healthcare professionals to understand the possible impact of FP results for healthcare delivery


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