Newborn Screening: A Case Study

There are many potential benefits and consequences that are associated with the inclusion of the whole genome sequencing into the newborn screening program. The WGS has been relatively successful in providing researchers with a more accurate conclusion of potential metabolic and genetic disorders of the newborns screened (Blackmann, 2015). This information as you have mentioned can be vital in creating early treatment plans for parents to consider for their child. However, due the WGS being a relatively new phenomenon it still presents a host of risk. Researchers have found that the “WGS-NBS may lead to an increase in false-positive results, depending on the panels performed and the integration of variants of unclear clinical significance. …show more content…
False-positive results, could lead to healthcare professionals unintentionally harming the newborn by offering unneeded treatment opportunities. The WGS are also so dense with information that even some health professionals have difficulty understanding to which poses the risk of them providing new parents with the wrong information (Knoppers et al., 2014). Instead of helping the family this could just increase stress level in a family. Lastly, there is little information that I have found to indicate if this type of screening is affordable to the average family. It’s costlier due to the clinical interpretation that follow the retrieval of the sample from the newborn (Backmann, 2015). As a result, my research seems to suggest that it is currently done as a private screening and paid for by the