Evidence map›Paper›PMID 33434711›Full record

ReviewCurrent opinion in genetics & development2021

Diagnostic genetic testing for neurodevelopmental psychiatric disorders: closing the gap between recommendation and clinical implementation.

Brenda M Finucane, David H Ledbetter, Jacob As Vorstman

Abstract readReview
In one paragraph

Review in Current opinion in genetics & development, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
–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

20 citing papers in PubMed.

  1. Review
  2. Review
  3. The importance of genetic counselling for turner syndrome transition.European child & adolescent psychiatry · 2025
    Review
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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

3 authors.

Brenda M FinucaneAutism & Developmental Medicine Institute, Geisinger, Lewisburg, PA USA. Electronic address: bmfinucane@geisinger.edu.
David H LedbetterAutism & Developmental Medicine Institute, Geisinger, Lewisburg, PA USA.
Jacob As VorstmanDepartment of Psychiatry, The Hospital for Sick Children, Toronto, ON, Canada.

Funding

Leveraging rare genetic etiologies to advance knowledge and treatment of neurpsychiatric disordersU01MH119705 · NIMH · GEISINGER CLINIC · PI LEDBETTER, DAVID H., MARTIN, CHRISTA LESE · 2019 to 2023
$9.2M
NIMH NIH HHS U01 MH119705
6 · The paper itself

Abstract

Advances in laboratory testing have significantly increased the detection of rare genetic etiologies of neurodevelopmental psychiatric disorders (NPD), particularly developmental delay/ intellectual disability, autism spectrum disorder, and schizophrenia. Establishing a genetic diagnosis has important medical and personal utility for individuals with these conditions. Diagnostic genetic tests for NPD are clinically available but underutilized outside of medical genetics settings. Without clear multidisciplinary consensus recommendations, active involvement of medical specialists working with NPD patients, and practical education and training, the implementation of genetic testing for NPD will continue to lag behind other areas of medicine. In the long-term, collaborative efforts to address educational, logistical, and workforce obstacles will improve patient care and pave the way for targeted, effective NPD treatments.

Indexed as

Clinical Decision-MakingGenetic CounselingGenetic Predisposition to DiseaseGenetic TestingGenomicsHumansMental DisordersNeurodevelopmental DisordersPrecision Medicine

Identifiers

PMID33434711
PMCPMC8205959

What OpenQuestion holds

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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.