Evidence map›Paper›PMID 34680935›Full record

ArticleGenes2021

Uptake and Patient Perspectives on Additional Testing for Novel Disease-Associated Genes: Lessons from a PAH Cohort.

Samara M A Jansen, Lieke M van de Heuvel, Arjan C Houweling, J Peter van Tintelen, Frances S de Man, Anton Vonk Noordegraaf, Harm Jan Bogaard

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.1field-weighted citation impact, top 47% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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 at 1 institution in 1 country.

Samara M A JansenDepartment of Pulmonary Medicine, Amsterdam University Medical Center (UMC) (Vrije Universiteit), 1081 HV Amsterdam, The Netherlands.ORCID 0000-0003-3493-3573
Lieke M van de HeuvelDepartment of Human Genetics, Amsterdam University Medical Center (UMC) (Vrije Universiteit), 1081 HV Amsterdam, The Netherlands.ORCID 0000-0003-4248-320X
Arjan C HouwelingDepartment of Human Genetics, Amsterdam University Medical Center (UMC) (Vrije Universiteit), 1081 HV Amsterdam, The Netherlands.
J Peter van TintelenDepartment of Human Genetics, Amsterdam University Medical Center (UMC) (Vrije Universiteit), 1081 HV Amsterdam, The Netherlands.ORCID 0000-0003-3854-6749
Frances S de ManDepartment of Pulmonary Medicine, Amsterdam University Medical Center (UMC) (Vrije Universiteit), 1081 HV Amsterdam, The Netherlands.
Anton Vonk NoordegraafDepartment of Pulmonary Medicine, Amsterdam University Medical Center (UMC) (Vrije Universiteit), 1081 HV Amsterdam, The Netherlands.
Harm Jan BogaardDepartment of Pulmonary Medicine, Amsterdam University Medical Center (UMC) (Vrije Universiteit), 1081 HV Amsterdam, The Netherlands.ORCID 0000-0001-5371-0346
Utrecht University · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPulmonary arterial hypertension (PAH) has an identifiable genetic cause in 5% of all PAH cases. Due to health benefits conferred by the early detection of PAH and the recent identification of additional PAH-associated genes, we decided to offer (extended) genetic testing to all incident and prevalent idiopathic PAH (iPAH) and pulmonary veno-occlusive disease (PVOD) patients in our clinic. Here, we report the lessons learned from (re-)contacting iPAH/PVOD patients concerning the uptake and analysis of identified PAH-associated genes and patient perspectives of the approach.

methodsBetween January 2018 and April 2020, all iPAH/PVOD patients who were not previously genetically tested (contact group) and those who tested negative on prior analysis of

resultsWith our approach, 58% of patients (84 out of 165) opted for genetic counselling, and a pathogenic variant was found in 12% of cases (

conclusionsOur report shows the importance of (re-)contact and interest of patients (as indicated by the uptake, mild psychosocial impact and appreciation) in PAH.

Indexed as

AttitudeAdultAgedBone Morphogenetic Protein Receptors, Type IIFemaleGenetic TestingHumansHypertension, PulmonaryMaleMiddle AgedPatientsSmad8 ProteinBMPR2 protein, humanBone Morphogenetic Protein Receptors, Type IISmad8 ProteinSMAD9 protein, humanpulmonary arterial hypertensionre-contactinguptake testing

Identifiers

PMID34680935
PMCPMC8536181
OpenAlexW3203200629

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.