Hallazgos secundarios cardiovasculares en exomas de pacientes del Hospital Clínico de la Universidad de Chile (2019-2024)

Q: What is the clinical evidence from this study?

Study design: Observational. Population: Patients undergoing exome sequencing (n=277). Intervention: Manual reanalysis of raw exome data vs. Standard report review. Primary outcome: Prevalence of cardiovascular secondary findings (CV-SF).

Q: What does this research mean for the field?

Manual reanalysis of raw exome sequencing data increases the detection rate of actionable cardiovascular secondary findings from 1.8% to 3.25% in Chilean patients. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

Francisca Sepúlveda B; Rosa Andrea Pardo V; Rafael Lobos U; Joaquín López G; Carol Ipanaque A; Rocío Retamales O; José Arroyo H; Solange Rubio A; Pablo Alarcón A

doi:10.4067/s0718-85602026000100013

April 1, 2026Revista chilena de cardiologíaOpen Access

Hallazgos secundarios cardiovasculares en exomas de pacientes del Hospital Clínico de la Universidad de Chile (2019-2024)

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Why the study?

In Chile, cardiovascular diseases are the leading cause of mortality, but there were no prior data on the frequency of secondary cardiovascular findings in the Chilean population undergoing exome sequencing.

Does manual reanalysis of raw exome data increase the detection of cardiovascular secondary findings compared to standard report review in Chilean patients?

Key Points

To determine the prevalence of actionable cardiovascular secondary findings in Chilean patients undergoing exome sequencing and evaluate their clinical implications.
Retrospective observational study of 277 clinical exomes sequenced between June 2019 and 2024 at a single tertiary hospital in Chile.
Cardiovascular secondary findings were extracted from clinical reports per ACMG SF v3.2 recommendations.
Raw bioinformatic exome data from all 277 patients underwent manual reanalysis using the Franklin Genoox platform, filtering against ACMG SF v3.3 genes with manual variant reclassification.
Initial report review identified five cardiovascular secondary findings across 277 patients (1.8%), involving the DSP, TTN, SCN5A, and LDLR genes.
Manual bioinformatic reanalysis identified four additional unrecorded variants, raising the total detection rate to 3.25% (9/277).
Identified actionable variants were associated with phenotypes including cardiomyopathies, cardiac arrhythmias, and familial hypercholesterolemia.

Study Design

Type

Observational (n=277)

Multicenter

No

Structured PICO

Does manual reanalysis of raw exome data increase the detection of cardiovascular secondary findings compared to standard report review in Chilean patients?

P

Population

277 Chilean patients who underwent exome sequencing at a single center between 2019 and 2024.

E

Exposure

Manual reanalysis of raw bioinformatic exome data using the Franklin Genoox platform, filtering by ACMG SF v3.3 genes.

C

Comparator

Standard review of exome reports according to ACMG SF v3.2.

O

Outcome

Prevalence of cardiovascular secondary findings (CV-SF).surrogate

Main Result

Absolute Event Rate: 3.25% vs 1.8%

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Implication

Manual reanalysis of raw exome data increases the detection of actionable cardiovascular genetic variants in patients undergoing exome sequencing.

Abstract

Resumen Antecedentes: Los hallazgos secundarios (HS) son variantes genéticas médicamente accionables identificadas incidentalmente durante la secuenciación de exomas. En Chile, las enfermedades cardiovasculares representan la principal causa de mortalidad (24,3%), sin datos previos sobre la frecuencia de HS cardiovasculares (HS-CV) en población chilena. Objetivos: Determinar la prevalencia de HS-CV en pacientes chilenos sometidos a secuenciación de exoma y describir las posibles intervenciones clínicas derivadas. Métodos: Estudio observacional, descriptivo y retrospectivo de 277 exomas realizados en el Hospital Clínico Universidad de Chile (junio 2019-2024). Se identificaron HS-CV mediante revisión de informes según ACMG SF v3.2. Adicionalmente, se realizó reanálisis manual de los datos bioinfomáticos crudos (raw data) de los 277 exomas con la plataforma Franklin Genoox, filtrando por genes ACMG SF v3.3 y reclasificando manualmente las variantes candidatas. Resultados: La revisión de informes identificó cinco HS-CV (1,8%; genes DSP, TTN, SCN5A, LDLR). El re-análisis manual identificó cuatro HS-CV adicionales no reportados previamente, elevando el total a nueve HS-CV (3,25%; 9/277). Las variantes se asocian a cardiomiopatías, arritmias e hipercolesterolemia familiar. Conclusiones: Este es el primer estudio chileno que reporta HS-CV en exomas. El re-análisis manual incrementó significativamente la tasa de detección, apoyando su incorporación como metodología complementaria y la realización de estudios multicéntricos futuros.

Discussion

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Cite This Study

B et al. (2026) conducted an observational in Patients undergoing exome sequencing (n=277). Manual reanalysis of raw exome data vs. Standard report review was evaluated on Prevalence of cardiovascular secondary findings (CV-SF).

synapsesocial.com/papers/6a33d6bd0b69647b6f237f47 https://doi.org/10.4067/s0718-85602026000100013

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Hallazgos secundarios cardiovasculares en exomas de pacientes del Hospital Clínico de la Universidad de Chile (2019-2024)

Key Points

Study Design

Structured PICO

Main Result

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

Hallazgos secundarios cardiovasculares en exomas de pacientes del Hospital Clínico de la Universidad de Chile (2019-2024)

Key Points

Study Design

Structured PICO

Main Result

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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