Jo, H.S.; Yang, M.; Ahn, S.Y.; Sung, S.I.; Park, W.S.; Jang, J.-H.; Chang, Y.S. Optimal Protocols and Management of Clinical and Genomic Data Collection to Assist in the Early Diagnosis and Treatment of Multiple Congenital Anomalies. Children2023, 10, 1673.
Jo, H.S.; Yang, M.; Ahn, S.Y.; Sung, S.I.; Park, W.S.; Jang, J.-H.; Chang, Y.S. Optimal Protocols and Management of Clinical and Genomic Data Collection to Assist in the Early Diagnosis and Treatment of Multiple Congenital Anomalies. Children 2023, 10, 1673.
Jo, H.S.; Yang, M.; Ahn, S.Y.; Sung, S.I.; Park, W.S.; Jang, J.-H.; Chang, Y.S. Optimal Protocols and Management of Clinical and Genomic Data Collection to Assist in the Early Diagnosis and Treatment of Multiple Congenital Anomalies. Children2023, 10, 1673.
Jo, H.S.; Yang, M.; Ahn, S.Y.; Sung, S.I.; Park, W.S.; Jang, J.-H.; Chang, Y.S. Optimal Protocols and Management of Clinical and Genomic Data Collection to Assist in the Early Diagnosis and Treatment of Multiple Congenital Anomalies. Children 2023, 10, 1673.
Abstract
Standardized protocols were specifically designed and developed for clinical information collection and obtaining trio genomic information from infants affected with congenital anomalies (CA) and their parents, as well as securing human biological resources. Two large areas of these protocols include clinical and genomic information collection on CA which were difficult to diagnose using pre-existing screening methods. The following are three essential items for the clinical information collection protocol: establishment of a consent system for collecting and utilizing research resources, establishment of criteria for target patient selection, and collection of clinical and epidemiological information. A total of 138 cases consisting of 45 families of infants with CA and their parent trios have provided human-derived resources and genomic information. Whole genome sequencing data have been generated for all participants, and standardized protocols for resource collection and manufacturing have been developed. Phenotype information according to the Human Phenotype Ontology term and major test findings were recorded. It is important to keep updating and recording clinical symptoms and genetic diagnosis that are newly added or changed over time. The unique significance of this study is to develop a protocol that enables long-term tracking by adding growth and development tests that reflect important characteristics of newborns. By using these clinical and genetic information collection protocols for CA, it will be possible to establish an essential platform for early genetic diagnosis and diagnostic research, and further present new genetic diagnostic guidelines in the near future.
Medicine and Pharmacology, Pediatrics, Perinatology and Child Health
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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