ReviewCold Spring Harbor perspectives in medicine2020
Genetic Counseling and Genome Sequencing in Pediatric Rare Disease.
Review in Cold Spring Harbor perspectives in medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
26 citing papers in PubMed, 36 citations in OpenAlex.
- Genomic Strategies in Pediatric Care: Addressing Rare Diseases in Children.Children (Basel, Switzerland) · 2026Review
- Parent/caregiver needs during pediatric genome-wide sequencing: A scoping literature review.Journal of genetic counseling · 2026Article
- Evaluation of Team-Based Genetic Counseling Services in Korea.Journal of Korean medical science · 2026Article
- Expanding beyond the exome: identifying pediatric patients best suited for genome sequencing.Journal of community genetics · 2026Article
- Regional Barriers to Advancing Genetic Medicine in Japan: Insights from a Shizuoka Prefecture Survey.JMA journal · 2026Article
- The impact of rare diseases on the quality of life in paediatric patients: current status.Frontiers in public health · 2025Review
- Non-Genetic Healthcare Providers' Experiences and Perspectives with Rapid Genome-Wide Sequencing in Canadian Neonatal Intensive Care Units.Children (Basel, Switzerland) · 2024Article
- Refined preferences of prioritizers improve intelligent diagnosis for Mendelian diseases.Scientific reports · 2024Article
- Case Report: The first Korean familial case ofFrontiers in pediatrics · 2024Article
- Article
- Characterization of patients treated at a rare disease referral service: a descriptive study, 2016-2021.Epidemiologia e servicos de saude : revista do Sistema Unico de Saude do Brasil · 2024Article
- Caregiving Interactions and Behaviors in the Care of Children with Rare Genetic or Undiagnosed Conditions.Journal of child and family studies · 2023Article
- Drosophila CASK regulates brain size and neuronal morphogenesis, providing a genetic model of postnatal microcephaly suitable for drug discovery.Neural development · 2023Article
- A de novo heterozygous variant in ACOX1 gene cause Mitchell syndrome: the first case in China and literature review.BMC medical genomics · 2023Review
- The importance of on-site genetic counseling for prospective assisted reproductive technology patients.Journal of assisted reproduction and genetics · 2023Article
- Intensive Care Clinicians' Perspectives on Ethical Challenges Raised by Rapid Genomic Testing in Critically Ill Infants.Children (Basel, Switzerland) · 2023Article
- Challenges in the clinical understanding of genetic testing in birth defects and pediatric diseases.Translational pediatrics · 2023Review
- Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due toBiomedicines · 2023Article
- The impact of caregiving for children with chronic conditions on the HPA axis: A scoping review.Frontiers in neuroendocrinology · 2023Article
- Identification of Novel Mutations in the MMAA and MUT Genes among Methylmalonic Aciduria Families.Iranian biomedical journal · 2023Article
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Both genome sequencing (GS) and exome sequencing (ES) have proven to be revolutionary in the diagnosis of pediatric rare disease. The diagnostic potential and increasing affordability make GS and ES more accessible as a routine clinical test in some centers. Herein, I review aspects of rare disease in pediatrics associated with the use of genomic technologies with an emphasis on the benefits and limitations of both ES and GS, complexities of variant classification, and the importance of genetic counseling. Indications for testing, the role of genetic counselors in genomic test selection, and the diagnostic potential of ES and GS in various pediatric multisystem disorders are discussed. The neonatal population represents an important cohort in pediatric rare disease. Rapid ES and GS in critically ill neonates can have an immediate impact on medical management and present unique genetic counseling challenges. This work includes reviews of recommendations for genetic counseling for families considering genome-wide sequencing, and issues of access to genetic counseling that affect clinical use and will necessitate implementation of innovative methods such as online decision aids. Finally, this work will also review the challenges of having a child with a rare disease, the impact of results from ES and GS on these families, and the role of various support agencies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.