Evidence map›Paper›PMID 29493584›Full record

ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018

Tell me once, tell me soon: parents' preferences for clinical genetics services for congenital heart disease.

Nadine A Kasparian, Richard De Abreu Lourenco, David S Winlaw, Gary F Sholler, Rosalie Viney, Edwin P E Kirk

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In one paragraph

Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed, 1 pooled it
2.2field-weighted citation impact, top 12% of its field
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

9 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Article
  6. Review
  7. Article
  8. Article
  9. [Research progress on genetic and epigenetic mechanisms in congenital heart disease].Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2018
    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

6 authors at 3 institutions in 1 country.

Nadine A KasparianDiscipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Sydney, New South Wales, Australia. n.kasparian@unsw.edu.au.
Richard De Abreu LourencoCentre for Health Economics Research and Evaluation, University of Technology Sydney, Ultimo, New South Wales, Australia.
David S WinlawHeart Centre for Children, The Sydney Children's Hospitals Network (Westmead and Randwick), Sydney, New South Wales, Australia.
Gary F ShollerHeart Centre for Children, The Sydney Children's Hospitals Network (Westmead and Randwick), Sydney, New South Wales, Australia.
Rosalie VineyCentre for Health Economics Research and Evaluation, University of Technology Sydney, Ultimo, New South Wales, Australia.
Edwin P E KirkDiscipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine, The University of New South Wales, Sydney, New South Wales, Australia.
The University of Sydney · AUUniversity of Technology Sydney · AUUNSW Sydney · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeAs the molecular basis of congenital heart disease (CHD) comes into sharper focus, cardiac genetics services are likely to play an increasingly important role. This study aimed to identify parents' preferences for, and willingness to participate in, clinical genetics services for CHD.

methodsA discrete choice experiment was developed to assess parents' preferences for pediatric cardiogenetics services based on four attributes: appointment format, health professionals involved, waiting time, and information format. Data were analyzed using a mixed logit model.

resultsOne hundred parents with a living child diagnosed with CHD requiring surgical intervention between 2000 and 2009 completed the discrete choice experiment. Parents expressed a clear preference for cardiac genetics services featuring (i) a single appointment, (ii) the presence of a clinical geneticist and a genetic counselor, (iii) both verbal (oral) and Web-based information about CHD and genetics, and (iv) availability of an appointment within 2 weeks. If offered such conditions, 93% of respondents indicated that they would attend. The choice of service was most strongly influenced by the presence of both a clinical geneticist and a genetic counselor.

conclusionParents of children with CHD favor a single, timely genetics appointment with both a geneticist and a genetic counselor present. If appointments offered match these preferences, uptake is likely to be high.

Indexed as

Genetic ServicesAdultChildChild, PreschoolChoice BehaviorFemaleGenetic CounselingHeart Defects, CongenitalHumansMaleMiddle AgedParentsSurveys and Questionnairescongenital heart diseasediscrete choice experimentgenetic counselinggenomicshealth economics

Identifiers

PMID29493584
OpenAlexW2783242947

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.