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Evaluación del rendimiento y acuerdo de las puntuaciones de riesgo poligénico de la enfermedad coronaria

Sarah A Abramowitz^1,2, Kristin Boulier³, Karl Keat⁴

¹Department of Surgery, University of Pennsylvania Perelman School of Medicine, Philadelphia.

|November 16, 2024

Resumen

Las puntuaciones de riesgo poligénico (PRS) para la enfermedad coronaria (CHD) muestran un rendimiento similar en la población, pero varían ampliamente a nivel individual. Esto pone de relieve la necesidad de mejorar los métodos para comunicar la incertidumbre del riesgo en la práctica clínica.

Área de la Ciencia:

Genética y genómica
Investigación en enfermedades cardiovasculares
Medicina de precisión

Sus antecedentes:

Las puntuaciones de riesgo poligénico (PRS) para la enfermedad coronaria (CHD) se utilizan cada vez más clínicamente y comercialmente.
El acuerdo a nivel individual de los PRS CHD existentes con un rendimiento similar a nivel de población no se entiende bien.

Objetivo del estudio:

Evaluar el acuerdo a nivel individual de las puntuaciones de riesgo poligénico de enfermedad coronaria (PRS) que demuestren un rendimiento comparable a nivel de la población.
Caracterizar la coherencia de las predicciones de riesgo en diferentes PRS para los individuos.

Principales métodos:

Un estudio transversal analizó los datos del Programa de Investigación All of Us (AOU), el Penn Medicine BioBank (PMBB) y el UCLA ATLAS Precision Health Biobank.
Se calcularon 48 PRS para el CHD. El acuerdo a nivel individual se evaluó utilizando el coeficiente de correlación intraclase (ICC) y Light κ.
El rendimiento a nivel de población se evaluó comparando las puntuaciones de Brier y las áreas debajo de las curvas del operador receptor.

Principales resultados:

Si bien 46 de los 48 PRS mostraron una predicción similar a nivel de población, el acuerdo a nivel individual fue pobre (ICC = 0,373).
El veinte por ciento de los participantes tenían puntuaciones en las categorías de riesgo del 5% superior e inferior en diferentes PRS.
El análisis a través de diferentes biobancos arrojó conjuntos variables de puntuaciones equivalentes que carecían de acuerdo a nivel individual.

Conclusiones:

Enfermedad coronaria PRS con un rendimiento similar en la población producen estimaciones de riesgo individual inconsistentes.
El uso clínico efectivo requiere métodos para cuantificar y comunicar la incertidumbre asociada con las predicciones individuales del PRS.
Se necesita más investigación para refinar la interpretación y la aplicación del PRS en la atención al paciente.

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