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Genomic technologies
Published in Wendy A. Rogers, Jackie Leach Scully, Stacy M. Carter, Vikki A. Entwistle, Catherine Mills, The Routledge Handbook of Feminist Bioethics, 2022
Newborn screening and testing programs aim to identify newborns with certain conditions prior to becoming symptomatic so as to provide interventions that can result in long-term health benefits, or to aid in the diagnosis of complex medical problems (Phornphutkul and Padbury 2019). Newborn screening programs have been implemented in many countries for decades (Therrell et al. 2015). The majority of these programs use a dried blood sample collected during the first week after birth to measure the presence of disease biomarkers. These programs test for a range of serious, well characterized and treatable conditions that appear in childhood. Currently, tandem mass spectrometry is the method used to detect most of the conditions included in newborn screening. It detects molecules by measuring their weight. Although NGS technologies are not yet routinely integrated into newborn screening programs, some have begun to use them for diagnostic confirmation and in pilot programs to assess cost-effectiveness (Meng et al. 2017; Adhikari et al. 2020). The use of NGS techniques in newborn screening panels can dramatically increase the number of conditions that could be identified pre-symptomatically.
Genomics and Medicine
Published in Danielle Laraque-Arena, Lauren J. Germain, Virginia Young, Rivers Laraque-Ho, Leadership at the Intersection of Gender and Race in Healthcare and Science, 2022
Newborn screening, carried out on all newborns in the first few days of life, detects genetic conditions and metabolic diseases early in life, before symptoms have developed. Instituting steps such as dietary restriction or supplementation is an early intervention that dramatically improves the course of a person's life. Phenylalanine hydroxylase (PAH) deficiency, formerly known as phenylketonuria or PKU, is one of the earliest conditions routinely screened for in newborns, beginning in the 1960s. The condition has no gender predilection and countless individuals have experienced enormous health improvements and avoided severe neurodevelopmental manifestations throughout their lives due to newborn screening and early intervention. Of note, due to the success of newborn screening and early intervention, people with PAH deficiency that are identified as newborns and treated throughout their childhood and adolescence are poised to have healthy pregnancies and families and no longer need to be limited by their condition (ACOG, 2020).
Cystic Fibrosis and Pancreatic Disease
Published in Praveen S. Goday, Cassandra L. S. Walia, Pediatric Nutrition for Dietitians, 2022
Elissa M. Downs, Jillian K. Mai, Sarah Jane Schwarzenberg
More than 30,000 people in the USA are living with cystic fibrosis, and 1,000 people/year are diagnosed with CF. Newborn screening accounts for two-thirds of all diagnoses in the USA. Newborn screening is a nationwide program that tests newborn infants for certain health conditions during the first few days of life, including CF. Early detection of CF can help prevent serious complications of untreated conditions including pancreatic insufficiency and malnutrition with early interventions. CF is included in the newborn screening in all 50 states. A positive newborn screen for CF needs to be confirmed with sweat chloride testing. Clinicians should be familiar with the screening process and be frequently reminded that while exceptionally helpful in identifying newborns with CF, there are rare situations where an infant may not be identified through the screening process. When a child has symptoms similar to CF or pancreatic insufficiency and has a negative newborn screen, a sweat chloride test remains the gold standard for diagnosis of CF.
Addressing the Burdens That Newborn Screening Imposes on Underserved Communities
Published in The American Journal of Bioethics, 2023
Meghan E. Strenk, Courtney Berrios, Jeremy R. Garrett
Newborn screening (NBS) began in the 1960s by testing all newborns for a single condition—phenylketonuria, or PKU—which, when identified and treated early, significantly reduces morbidity. Over the past six decades, NBS has expanded considerably as a public health intervention for newborns born in the United States (US). Currently, the Recommended Uniform Screening Panel (RUSP), a list of conditions which the US Secretary of the Department of Health and Human Services recommends for inclusion in state NBS panels, includes 37 core conditions and 26 secondary conditions (HRSA. Recommended Uniform Screening Panel 2023). While NBS is rightly viewed as a public health success story resulting in an overall positive impact on the health and wellbeing of newborns, its impacts are not always distributed equitably among stakeholders. Realizing the true promise of NBS requires recognizing and addressing both disparities in benefits of the program and inequities in the burdens that screening can impose on patients and families.
Therapies in preclinical and clinical development for Angelman syndrome
Published in Expert Opinion on Investigational Drugs, 2021
Theodora Markati, Jessica Duis, Laurent Servais
The recent developments in SMA have demonstrated that drugs which bring minor but significant benefits in postsymptomatic patients can be transformative when administered before the onset of symptoms [80], prompting the addition of SMA to newborn screening programs in a number of countries [81]. A similar concept of a critical ‘time-window’ for intervention has been proposed for AS based on data from animal studies [80,82,83], at least for some physiological functions [37]. However, SMA is a neurodegenerative condition and the recent clinical data reported after GTX-102 treatment would support the conclusion that by contrast, in AS there is potential for meaningful changes in patients of varied ages, and therefore, the concept of a critical developmental ‘time-window’ must be considered individually (press release, additional source 9). Regardless, the development of newborn screening methods will be of crucial importance, as this will allow trials to be conducted in presymptomatic patients.
“Your son has Klinefelter syndrome.” How parents react to a prenatal diagnosis
Published in Children's Health Care, 2021
Laura Zampini, Francesca Dall’Ara, Gaia Silibello, Paola Francesca Ajmone, Federico Monti, Claudia Rigamonti, Faustina Lalatta, Maria Antonella Costantino, Paola Giovanna Vizziello
Given that prenatal screening is becoming increasingly widespread, also with noninvasive prenatal diagnostic tests, the detection of sex chromosome anomalies is more common in the last decades (e.g., Abramsky, Hall, Levitan, & Marteau, 2001). Women undergoing prenatal karyotyping are usually worried about having a child with Down syndrome, but they are frequently uninformed of the possibility of detecting sex chromosome anomalies before undergoing tests. Prenatal diagnosis of KS is usually the consequence of a fortuitous finding during prenatal karyotyping, as a fetus with KS has no abnormalities detectable at ultrasonography (Ferlin, 2020). However, it should be noted that both prenatal screening and newborn screening have the advantage to increase the diagnostic rate of KS but also have potential disadvantages in terms of increasing parental anxiety, risk of excessive medicalization, and ethical problems for the possible increase of pregnancy termination rate (Ferlin, 2020). Even the decision to carry on the pregnancy could be affected by how the diagnosis is communicated (Abramsky et al., 2001; Hall, Abramsky, & Marteau, 2003; Marteau et al., 2002). This fact leads to a careful consideration of how these diagnoses should be communicated to future parents. The first communication is crucial because it could affect how parents interpret the information presented later (Abramsky et al., 2001; Bourke, Snow, Herlihy, Amor, & Metcalfe, 2014) and could also affect future mother-child interaction (Zampini et al., 2020).