Genetic Susceptibility in Health Care

Investigador principal: Mauro Turrini.

Duración: 01/04/2020-31/03/2024

Convocatoria: Ayudas a la atracción de talento investigador para su incorporación a grupos de investigación de la Comunidad de Madrid. 2019 modalidad 1 contratación doctores con experiencia.

Programa: Plan Regional de Investigación Científica e Innovación Tecnológica de Madrid (2016-2020) – Comunidad de Madrid.

Referencia: 2019-T1/SOC-14923 

The use of individual genomic risk factors to predict the onset of common diseases is one of the main promises of personalized medicine. This project aims to contribute to the understanding of how genetic susceptibility tests work in clinical settings, by drawing on non-rare thrombophilia (NRT) tests, a common diagnostic technique for congenital predisposition to venous thromboembolism (VTE). Less than two decades after the discovery of the two genetic markers associated with VTE, these diagnostic tests have become the most common ones in many European Countries.  

Based on interviews with scientists, biomedical researchers, physicians, and patients, as well as analysis of the literature and medical-scientific guidelines, this study aims to analyze the ambivalence of the rapid adoption of NRT genetic testing. Genetic susceptibility testing for common diseases reflects the growing interest of physicians and patients in a specific new type of genomic information, but it has also raised issues and controversies, especially about its clinical utility and relevance. This project aims to inform stakeholders of how future genetic testing services may be integrated into mainstream medicine.