Returning individual genomic results to population-based cohort study participants with BRCA1/2 pathogenic variants

Ohneda, Kinuko; Hamanaka, Yohei; Kawame, Hiroshi; Fuse, Nobuo; Nagami, Fuji; Suzuki, Yôichi; Yamaguchi-Kabata, Yumi; Shimada, Muneaki; Masamune, Atsushi; Aoki, Yoko; Ishida, Takanori; Yamamoto, Masayuki

doi:10.1007/s12282-022-01404-7

Cited by 2 publications

(1 citation statement)

References 39 publications

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“…Currently, studies on the practical application of PRSbased risk prediction for multifactorial diseases are mainly conducted in Europe and the United States [11][12][13][14]. The Tohoku Medical Megabank (TMM) Project [15] conducted a study on risk assignment based on genetic information for monogenic diseases, familial hypercholesterolemia, hereditary breast and ovarian cancer syndromes, and multiple drug susceptibilities and verified the clinical usefulness and feasibility of the risk assignment system [16][17][18]. We are currently conducting a PRS-based disease risk allocation study for multifactorial diseases in a larger target population.…”

Section: Introductionmentioning

confidence: 99%

Stakeholder Perception of the Implementation of Genetic Risk Testing for Twelve Multifactorial Diseases

Tokutomi,

Yoshida,

Fukushima

et al. 2023

Genes

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Genome-wide association studies have been employed to develop numerous risk prediction models using polygenic risk scores (PRSs) for multifactorial diseases. However, healthcare providers lack confidence in their understanding of PRS risk stratification for multifactorial diseases, which underscores the need to assess the readiness of PRSs for clinical use. To address this issue, we surveyed the perceptions of healthcare providers as stakeholders in the clinical implementation of genetic-based risk prediction for multifactorial diseases. We conducted a web-based study on the need for risk prediction based on genetic information and the appropriate timing of testing for 12 multifactorial diseases. Responses were obtained from 506 stakeholders. Positive perceptions of genetic risk testing were found for adult-onset chronic diseases. As per participant opinion, testing for adult-onset diseases should be performed after the age of 20 years, whereas testing for psychiatric and allergic disorders that manifest during childhood should be performed from birth to 19 years of age. The stakeholders recognized the need for genetic risk testing for diseases that develop in adulthood, believing that the appropriate testing time is after maturity. This study contributes to the discussion on the clinical implementation of the PRS for genetic risk prediction of multifactorial diseases.

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