Evidence map›Paper›PMID 39712956›Full record

ArticleGenetics in medicine open2024

Rapid genomic testing in critically ill pediatric patients: Genetic counseling lessons from a national program.

Kirsten Boggs, Fiona Lynch, Michelle Ward, Sophie E Bouffler, Samantha Ayres, Robin Forbes, Amanda Springer, Michelle G de Silva, Elly Lynch, Lyndon Gallacher and 5 more

Abstract read
In one paragraph

Article in Genetics in medicine open, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
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

15 authors.

Kirsten BoggsAustralian Genomics, Melbourne, Australia.
Fiona LynchMurdoch Children's Research Institute, Melbourne, Australia.
Michelle WardGenetic Health WA, Perth, Australia.
Sophie E BoufflerAustralian Genomics, Melbourne, Australia.
Samantha AyresUniversity of Melbourne, Melbourne, Australia.
Robin ForbesMurdoch Children's Research Institute, Melbourne, Australia.
Amanda SpringerMonash Genetics, Monash Health, Melbourne, Australia.
Michelle G de SilvaMurdoch Children's Research Institute, Melbourne, Australia.
Elly LynchMurdoch Children's Research Institute, Melbourne, Australia.
Lyndon GallacherVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
Tenielle DavisThe Royal Women's Hospital, Melbourne, Australia.
Ana RakonjacGenetic Health WA, Perth, Australia.
Kirsty StallardPaediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, Australia.
Gemma R BrettVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
Zornitza StarkAustralian Genomics, Melbourne, Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic counselors (GCs) face unique challenges in the acute care setting. Acute care environments-such as neonatal and pediatric intensive care units-are characterized by urgency, complexity, and rapid decision making. These settings require GCs to navigate a delicate balance between addressing the immediate clinical needs of patients and providing comprehensive genetic information to families, while demanding adaptation of existing skills for practice. Rapid genomic testing (rGT) is increasingly becoming standard of care in acute care. GCs are well placed to support families through the rGT process. Despite this, there is a lack of consistency in the provision of comprehensive acute care genetic counseling globally and a subsequent need for professional guidance in this area. The Acute Care Genomics study piloted a national approach to delivering rGT for infants and children admitted to intensive care units in Australia with suspected genetic conditions between 2018 and 2022. GCs from across Australia were involved in both pre- and post-test counseling for the families of these critically unwell children. Based on our collective experience of delivering this national rGT program, this article provides a discussion of common challenges for health professionals new to delivering rGT in intensive care. We share some practical solutions and make recommendations for supporting families in this area of practice.

Indexed as

EducationGenetic counselingIntensive careRapid genomic testingSupervision

Identifiers

PMID39712956
PMCPMC11658312

What OpenQuestion holds

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LicenceCC BY-NC-ND
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.