Last Posted: Sep 24, 2021
- BABY STEPS
Sequencing every newborn’s genome to detect diseases faces ethical and practical obstacles, but the United Kingdom is pushing ahead with a major test
J Kaiser, Science, September 23,2021
- Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.
D'Annibale Olivia M et al. Molecular genetics and metabolism 2021
- Absorbing it all: A meta-ethnography of parents' unfolding experiences of newborn screening.
White Ashley L et al. Social science & medicine (1982) 2021 287114367
- Operational analysis of the national sickle cell screening programme in the Republic of Uganda.
Hernandez Arielle G et al. African journal of laboratory medicine 2021 10(1) 1303
- Challenging the dogma of the healthy heterozygote: Implications for newborn screening policies and practices.
Farrell Philip M et al. Molecular genetics and metabolism 2021
- Improving outcomes for Colorado's IRT-IRT-DNA cystic fibrosis newborn screening algorithm by implementing floating cutoffs.
Martiniano Stacey L et al. Molecular genetics and metabolism 2021
- Gene therapy for neuromuscular disorders: prospects and ethics.
Ryan Monique M et al. Archives of disease in childhood 2021
- Mucopolysaccharidosis Type I Disease Prevalence Among Patients With Idiopathic Short Stature in Saudi Arabia: Protocol for a Multicenter Cross-sectional Study.
Alsafadi Danyah et al. JMIR research protocols 2021 10(8) e28619
- ResultsMyWay: combining Fast Healthcare Interoperability Resources (FHIR), Clinical Quality Language (CQL), and informational resources to create a newborn screening application.
Watkins Michael et al. AMIA ... Annual Symposium proceedings. AMIA Symposium 2021 2021615-623
- Analytical Evaluation of the Ideal Strategy for High-Throughput Flow Injection Analysis by Tandem Mass Spectrometry in Routine Newborn Screening.
Cicalini Ilaria et al. Metabolites 2021 11(8)
Search Result Summary
- CDC Information (21)
- NIH Information (2)
- CDC Publications (29)
- COVID-19 (4)
- Human Genome Epidemiologic Studies (209)
- GWAS Studies (1)
- Human Genomics Translation/Implementation Studies (768)
- Genomic Tests Evidence Synthesis (105)
- Genomic Tests Guidelines (36)
- Tier-Classified Guidelines (8)
- Non-Genomics Precision Health (2)
- Pathogen Advanced Molecular Detection (2)
- State Public Health Genomics Programs (85)
- Ethical/Legal and Social Issues (ELSI) (36)
Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.