Evidence map›Paper›PMID 41973423›Full record

Trial reportJAMA network open2026

Genetic Cascade Screening for Familial Hypercholesterolemia: A Randomized Clinical Trial.

David Nanchen, Aziz Chaouch, Renzo Scuderi, Vincent Faivre, Thomas von Känel, Georg Ehret, Nathalie Brun, Isabella Sudano, Hans Rickli, Grégoire Girod and 10 more

Registry-linked trialAbstract readRandomized Controlled TrialMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Trial report in JAMA network open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04419090 (Cascade Genetic Testing of Familial Hypercholesterolemia), which is not on this map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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.

NCT04419090 nacompletednot on this map

Cascade Genetic Testing of Familial Hypercholesterolemia: the CATCH Multicenter Randomized Controlled Trial

TypeinterventionalSponsorCenter for Primary Care and Public Health (Unisante), University of Lausanne, SwitzerlandRan2020 to 2023Enrolled379ConditionsFamilial HypercholesterolemiaArmsweb-based centralized service and message
3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. 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

20 authors.

David NanchenCenter for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne, Switzerland.
Aziz ChaouchCenter for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne, Switzerland.
Renzo ScuderiCenter for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne, Switzerland.
Vincent FaivreCenter for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne, Switzerland.
Thomas von KänelCentral Institute of the Hospitals, Hôpital du Valais, Sion, Switzerland.
Georg EhretDivision of Cardiology, Geneva University Hospitals, University of Geneva, Geneva, Switzerland.
Nathalie BrunChildren Clinic, Geneva University Hospitals, University of Geneva, Geneva, Switzerland.
Isabella SudanoDepartment of Cardiology, University Heart Center, Zurich University Hospital, University of Zurich, Zurich, Switzerland.
Hans RickliDepartment of Cardiology, Kantonsspital St Gallen, St Gallen, Switzerland.
Grégoire GirodDepartment of Cardiology, Hôpital du Valais, Sion, Switzerland.
Audrey Butty DettwilerCenter for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne, Switzerland.
Kristina KrasievaCenter for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne, Switzerland.
Clara PodmoreCenter for Primary Care and Public Health (Unisanté), University of Lausanne, Lausanne, Switzerland.
Nicolas RodondiInstitute of Primary Health Care (BIHAM), University of Bern, Bern, Switzerland.
Elisavet MoutzouriInstitute of Primary Health Care (BIHAM), University of Bern, Bern, Switzerland.
Diana BallhausenPediatric Metabolic Unit, Woman-Mother-Child Department, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Rosaria Del GiornoCardiovascular Research Unit, Dipartimento Medicina Interna, ORBV, Ente Ospedaliero Cantonale, Università della Svizzera Italiana, Switzerland.
Arnold von EckardsteinInstitute of Clinical Chemistry, Zurich University Hospital, University of Zurich, Zurich, Switzerland.
Jürg H BeerDepartment of Molecular Cardiology, Zurich University Hospital, University of Zurich, Zurich, Switzerland.
Augusto GallinoCardiovascular Research Unit, Dipartimento Medicina Interna, ORBV, Ente Ospedaliero Cantonale, Università della Svizzera Italiana, Switzerland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Importance: Familial hypercholesterolemia is a common genetic disorder associated with premature cardiovascular disease. Genetic cascade screening is recommended but remains underused due to privacy laws that prevent clinicians from directly contacting at-risk relatives. Objective: To examine whether implementing a web-based communication platform in a patient-mediated genetic cascade screening program for familial hypercholesterolemia increases uptake compared with usual care. Design, Setting, and Participants: This open-label, multicenter, implementation randomized clinical trial (CATCH) was conducted between November 1, 2020, and October 31, 2023, at 7 cardiovascular prevention or lipid clinics across Switzerland, representing French-, German-, and Italian-speaking regions. Adults aged 16 years or older with genetically confirmed familial hypercholesterolemia and at least 1 eligible first-degree relative living in Switzerland participated. A total of 87 index patients with 359 eligible first-degree relatives were randomized by family cluster (1:1) to the intervention or usual care arm. Intervention: A secure web-based platform allowing participants to send preprepared electronic messages (email or text) to their relatives, linking them directly to participating centers for genetic testing. Main Outcomes and Measures: The primary outcome was cascade screening uptake, defined as the proportion of eligible first-degree relatives undergoing genetic testing within 6 months. The secondary outcome was new cases identified. Results: Among 221 adults screened across multiple families, 87 (39.4%) had genetically confirmed familia hypercholesterolemia (median [IQR] age, 49.2 [16.4-83.7] years; 46 [52.9%] female; median [IQR] highest low-density lipoprotein cholesterol, 289.58 [139.00-498.07] mg/dL); 43 were randomized to the usual care arm, and 44 were randomized to the intervention arm. Among the 359 eligible relatives (median family size, 4), 99 (27.6%) underwent genetic testing. Uptake was higher in the intervention arm (30.4%; 95% CI, 22.0%-40.4%) than in usual care arm (16.7%; 95% CI, 10.1%-26.3%), yielding an odds ratio of 2.18 (95% CI, 1.06-4.51; P = .03). New case identification was also greater (17.0% vs 8.1%; odds ratio, 2.32; 95% CI, 1.07-5.05; P = .03). Newly identified patients were often untreated or had modifiable risk factors. Conclusions and Relevance: In this randomized clinical trial of patient-mediated genetic cascade screening supported by a web-based platform, participation in genetic testing and detection of familial hypercholesterolemia was increased compared with usual care. These results suggest that the use of digital communication tools enhanced the reach and effectiveness of genetic screening programs within privacy-regulated health systems. Trial Registration: ClinicalTrials.gov Identifier: NCT04419090.

Indexed as

Genetic TestingHyperlipoproteinemia Type IIAdultAgedFemaleHumansMaleMiddle AgedSwitzerland

Identifiers

PMID41973423
PMCPMC13077512

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Registered trials

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.