ArticleJournal of genetic counseling2019
Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era.
Article in Journal of genetic counseling, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 18 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Who cites it
18 citing papers in PubMed.
- Challenges associated with disclosing results from whole genome sequencing to diagnose paediatric rare diseases: analysis of parent-clinician interactions.Journal of medical genetics · 2026Article
- Rare and resilient: Longer-term experiences of families after genetic evaluation in the neonatal intensive care unit.Genetics in medicine open · 2026Article
- Putting control into parents' hands: Parent experiences with a genomic results e-booklet.Journal of genetic counseling · 2025Article
- Navigating an Uninformative Genomic Test Result: A Practical Guide.Journal of paediatrics and child health · 2025Review
- Evaluation of a two-step model of opportunistic genomic screening.European journal of human genetics : EJHG · 2024Article
- International Undiagnosed Diseases Programs (UDPs): components and outcomes.Orphanet journal of rare diseases · 2023Review
- Framing the Family: A Qualitative Exploration of Factors That Shape Family-Level Experience of Pediatric Genomic Sequencing.Children (Basel, Switzerland) · 2023Article
- Participation in a national diagnostic research study: assessing the patient experience.Orphanet journal of rare diseases · 2023Article
- Continuing a search for a diagnosis: the impact of adolescence and family dynamics.Orphanet journal of rare diseases · 2023Article
- Receiving Genomic Sequencing Results through the Victorian Undiagnosed Disease Program: Exploring Parental Experiences.Journal of personalized medicine · 2022Article
- Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation.Journal of genetic counseling · 2022Article
- Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.Journal of genetic counseling · 2022Article
- Current Status of Genetic Counselling for Rare Diseases in Spain.Diagnostics (Basel, Switzerland) · 2021Review
- Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Abnormal expression of GABABiology open · 2020Article
- Experiences of patients with Poland syndrome of diagnosis and care in Italy: a pilot survey.Orphanet journal of rare diseases · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
Abstract
The "diagnostic odyssey" is well known and described in genetic counseling literature. Studies addressing the psychological, emotional, and financial costs of not having a diagnosis have shown how it permeates the lives of patients and families. The Undiagnosed Diseases Network aims to end this odyssey by providing diagnoses to individuals with undiagnosed conditions through multidisciplinary evaluations, whole exome and genome sequencing, and basic science research. It also provides an opportunity to learn from patients and families and to better understand their journeys and the impact of receiving a diagnosis. Seven cases are presented that outline challenges that come from working with chronically undiagnosed and newly diagnosed patients in a time when sequencing for clinical diagnosis is rapidly increasing. They illuminate the emotional journey of patients and families searching for a diagnosis and the mental health problems, financial distress, and chaos that can accompany not having answers. They also illustrate the surprising reactions patients and families can have to receiving a diagnosis, including anger, grief, and disappointment. While the lessons learned from these families are not novel, new strategies are presented for handling these challenges in undiagnosed and ultra-rare populations, groups that will increase with the rise of clinical sequencing.
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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.