ESPEYB20 12. The Year in Science and Medicine Genetics (5 abstracts)
12.5. Perspectives of rare disease experts on newborn genome sequencing
Gold NB , Adelson SM , Shah N , Williams S , Bick SL , Zoltick ES , Gold JI , Strong A , Ganetzky R , Roberts AE , Walker M , Holtz AM , Sankaran VG , Delmonte O , Tan W , Holm IA , Thiagarajah JR , Kamihara J , Comander J , Place E , Wiggs J & Green RC
JAMA Network Open. 2023;6(5):e2312231. DOI: 10.1001/jamanetworkopen.2023.12231
Brief summary: This survey study addressed the question whether rare disease experts (n=238) would advise genetic neonatal screening for treatable genetic disorders. Most experts (87.9%) agreed that genetic analysis for a limited number of monogenic treatable conditions should be available to all newborns.
Newborn screening has been introduced for diagnosing a few treatable congenital disorders at birth in apparently healthy newborns, in order to identify and treat them before they become severely sick. Originally newborn screening was based on biochemical markers, such as TSH to detect congenital hypothyroidism and 17-hydroxyprogesterone for congenital adrenal hyperplasia. Lately, genetic screening for some disorders without biochemical markers has been introduced in several countries, e.g. for adrenoleukodystrophy and cystic fibrosis.
In theory, genetic screening can be rapidly expanded without limitations by use of efficient techniques, such as whole exome sequencing, but the question remains whether we should really do it?
Newborn genome sequencing (NGseq) is able to screen for thousands of genes associated with disorders that cannot be assessed by laboratory assays. But it should be discussed critically as we do not have data for its possible effects on our medical, psychosocial and economic systems. So far, surveys suggested that individuals and especially parents have a positive opinion regarding NGseq, while pediatricians are more critical although still rather positive. The opinion of medical geneticists and other rare disease specialists, who actually would be responsible for implementing NGseq, was to date missing and is now available through this study. More than 200 rare disease specialists would advise with a concordance of 85% for a limited NGseq screening for 25 gene-disease pairs; these relate mostly to metabolic disorders, but include also genes that cause endocrine diseases (OTC, G6PC, SLC37A4, CYP11B1, ARSB, F8, F9, SLC2A1, CYP17A1, RB1, IDS, GUSB, DMD, GLUD1, CYP11A1, GALNS, CPS1, PLPBP, ALDH7A1, SLC26A3, SLC25A15, SMPD1, GATM, SLC7A7, and NAGS).
Thus it remains to be seen how the original newborn screening will be expanded by NGseq in the near future.
Volume 20
Article tools
My recent searches
My recently viewed abstracts
Authors
ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more