Evidence map›Paper›PMID 30284667›Full record

ArticleJournal of autism and developmental disorders2019

Diagnostic and Therapeutic Misconception: Parental Expectations and Perspectives Regarding Genetic Testing for Developmental Disorders.

Isabelle Tremblay, Steffany Grondin, Anne-Marie Laberge, Dominique Cousineau, Lionel Carmant, Anita Rowan, Annie Janvier

Abstract read
PubMed Publisher
In one paragraph

Article in Journal of autism and developmental disorders, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

12 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. Review
  8. Article
  9. Article
  10. The Future of Newborn Genomic Testing.Children (Basel, Switzerland) · 2023
    Review
  11. Hope versus reality: Parent expectations of genomic testing.Patient education and counseling · 2021
    Article
  12. Rehabilitation Evidence-Based Decision-Making: The READ Model.Frontiers in rehabilitation sciences · 2021
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Isabelle TremblayDepartment of Psychology, Department of Medical Genetics, Centre Intégré du Réseau En Neuro-développement de l'Enfant (C.I.R.E.N.E.), Clinical Ethics Unit, CHU Sainte-Justine, 3175 chemin de la Côte-Sainte-Catherine, Montréal, QC, H3T 1C5, Canada. isatremblay2002@yahoo.ca.ORCID http://orcid.org/0000-0001-6311-4169
Steffany GrondinCentre de génétique cardiovasculaire, Institut de cardiologie de Montréal, 5000 rue Bélanger, Montréal, QC, H1T 1C7, Canada.
Anne-Marie LabergeDepartment of Medical Genetics, CHU Sainte-Justine Research Center, CHU Sainte-Justine, 3175 chemin de la Côte-Sainte-Catherine, Montréal, QC, H3T 1C5, Canada.
Dominique CousineauDepartment of Pediatrics, Department of Pediatrics of the Université de Montréal, Centre Intégré du Réseau En Neuro-développement de l'Enfant (C.I.R.E.N.E.), CHU Sainte-Justine, 3175 chemin de la Côte-Sainte-Catherine, Montréal, QC, H3T 1C5, Canada.
Lionel CarmantDepartment of Neurology, Centre Intégré du Réseau En Neuro-développement de l'Enfant (C.I.R.E.N.E.), CHU Sainte-Justine Research Center, CHU Sainte-Justine, 3175 chemin de la Côte-Sainte-Catherine, Montréal, QC, H3T 1C5, Canada.
Anita RowanParent Representative, 5380 rue de Cadillac, Montréal, QC, H1M 2L2, Canada.
Annie JanvierDivision of Neonatology of the CHU Sainte-Justine, Department of Pediatrics of the Université de Montréal, Palliative Care Unit, Clinical Ethics Unit, CHU Sainte-Justine Research Center, Bureau de l'éthique clinique, Unité de recherche en éthique clinique et partenariat famille (UREPAF), 3175 chemin de la Côte-Sainte-Catherine, Montréal, QC, H3T 1C5, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Parents' understanding/expectations regarding genetic testing for children with developmental disorders were explored. Within a month of testing, interviews were conducted with 57 parents. Many (74%) could not recall the nature of testing. Parents expected genetic testing to have positive impacts for the child (93%) and the family (98%), mainly to find the etiology and/or an intervention. Many parents (40%) reported not knowing their child's clinical diagnosis. They expected genetic testing would establish the diagnosis. Parents anticipated potential negative impacts of testing for children (78%) and families (87%), mainly finding another illness or not finding potential interventions. Abnormal results explaining the disorder were found in 9% of children. In summary, genetic results for developmental disorders are unlikely to meet parental expectations.

Indexed as

AttitudeTherapeutic MisconceptionAdultChildDevelopmental DisabilitiesFemaleGenetic CounselingGenetic TestingHumansMaleParentsArray comparative genomic hybridization (aCGH)Autism spectrum disorderChromosomal microarray (CMA) testingGenetic testingGlobal developmental delayMisconception

Identifiers

PMID30284667

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.