The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project

Kawame, Hiroshi; Fukushima, Akimune; Fuse, Nobuo; Nagami, Fuji; Suzuki, Yôichi; Sakurai‐Yageta, Mika; Yasuda, Jun; Yamaguchi-Kabata, Yumi; Kinoshita, Kengo; Ogishima, Soichi; Takai, Takako; Kuriyama, Shinichi; Hozawa, Atsushi; Nakaya, Naoki; Nakamura, Tomohiro; Minegishi, Naoko; Sugawara, Junichi; Suzuki, Kichiya; Tomita, Hiroaki; Uruno, Akira; Kobayashi, Tomoko; Aizawa, Yayoi; Tokutomi, Tomoharu; Yamamoto, Kayono; Ohneda, Kinuko; Kure, Shigeo; Aoki, Yoko; Katagiri, Hideki; Ishigaki, Yasushi; Sawada, Shojiro; Sasaki, Makoto; Yamamoto, Masayuki

doi:10.1038/s10038-021-00952-8

Cited by 9 publications

(6 citation statements)

References 49 publications

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“…Five healthcare systems have implemented population genetic screening approaches to identify unselected individuals with risk for genetic disease including Tier 1 genetic conditions (designated by the Centers for Disease Control and Prevention's Office of Public Health Genomics [29]) including FH [30 ▪ ,31–34]. Each of these population screening approaches performs exome sequencing, links exome data to EHR systems, returns actionable results, and allows for recontact for future studies.…”

Section: Resultsmentioning

confidence: 99%

Applying implementation science to improve care for familial hypercholesterolemia

Jones¹,

Brownson

Williams³

2021

Current Opinion in Endocrinology, Diabetes &Amp; Obesity

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Purpose of reviewImproving care of individuals with familial hypercholesteremia (FH) is reliant on the synthesis of evidence-based guidelines and their subsequent implementation into clinical care. This review describes implementation strategies, defined as methods to improve translation of evidence into FH care, that have been mapped to strategies from the Expert Recommendations for Implementing Change (ERIC) compilation.Recent findingsA search using the term ‘familial hypercholesterolemia’ returned 1350 articles from November 2018 to July 2021. Among these, there were 153 articles related to improving FH care; 1156 were excluded and the remaining 37 were mapped to the ERIC compilation of strategies: assess for readiness and identify barriers and facilitators [9], develop and organize quality monitoring systems [14], create new clinical teams [2], facilitate relay of clinical data to providers [4], and involve patients and family members [8]. There were only 8 of 37 studies that utilized an implementation science theory, model, or framework and two that explicitly addressed health disparities or equity.SummaryThe mapping of the studies to implementation strategies from the ERIC compilation provides a framework for organizing current strategies to improve FH care. This study identifies potential areas for the development of implementation strategies to target unaddressed aspects of FH care.

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Section: Resultsmentioning

confidence: 99%

Applying implementation science to improve care for familial hypercholesterolemia

Jones¹,

Brownson

Williams³

2021

Current Opinion in Endocrinology, Diabetes &Amp; Obesity

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“…Participants were selected from the 3554 Japanese genome reference panel (3.5KJPN) established within the TMM Project [ 8 ]. We accessed their genomic data and returned the results of individual genomic results for monogenic FH based on their requests to proceed to the next step [ 9 ]. The eligibility criteria were as follows: (1) ≥20 years of age, (2) unchecked “Do not wish genomic results returned” questionnaire box, and (3) a history of dyslipidemia treatment, or total cholesterol ≥ 250 mg/dL or LDL-C ≥ 180 mg/dL.…”

Section: Methodsmentioning

confidence: 99%

“…The genetics workshop was held at eight assessment centers located in Miyagi prefecture and Iwate prefecture between December 2016 and February 2017 and between September 2017 and November 2017, and was conducted according to a previous study [ 9 ], with some modifications [ 10 ]. Briefly, the workshop addressed knowledge related to basic genetics and FH, including types (heterozygous or homozygous), incidence, inheritance pattern, natural history, treatments, and therapy.…”

Section: Methodsmentioning

confidence: 99%

The Health History of First-Degree Relatives’ Dyslipidemia Can Affect Preferences and Intentions following the Return of Genomic Results for Monogenic Familial Hypercholesterolemia

Tokutomi,

Yoshida,

Fukushima

et al. 2024

Genes

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Genetic testing is key in modern healthcare, particularly for monogenic disorders such as familial hypercholesterolemia. This Tohoku Medical Megabank Project study explored the impact of first-degree relatives’ dyslipidemia history on individual responses to familial hypercholesterolemia genomic results. Involving 214 participants and using Japan’s 3.5KJPN genome reference panel, the study assessed preferences and intentions regarding familial hypercholesterolemia genetic testing results. The data revealed a significant inclination among participants with a family history of dyslipidemia to share their genetic test results, with more than 80% of participants intending to share positive results with their partners and children sand 98.1% acknowledging the usefulness of positive results for personal health management. The study underscores the importance of family health history in genetic-testing perceptions, highlighting the need for family-centered approaches in genetic counseling and healthcare. Notable study limitations include the regional scope and reliance on questionnaire data. The study results emphasize the association between family health history and genetic-testing attitudes and decisions.

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“…The flow diagram of the study design is presented in Figure 1 . The individual IDs for the participants were securely converted into internal IDs for anonymized data (18) , and two bioinformaticians dealing only with anonymized data independently performed variant detection using the WGS data. In the TMM project, WGS of the cohort participants was performed, and genome reference panels for the Japanese population were constructed.…”

Section: Methodsmentioning

confidence: 99%

“…In the third study, it was planned to return genomic information related to single-gene disorders with intermediate penetrance and/or adult-onset phenotype. The details of the TMM project ROGR pilot study are described elsewhere (18) .…”

Section: Introductionmentioning

confidence: 99%

A Pilot Study for Return of Individual Pharmacogenomic Results to Population-Based Cohort Study Participants

Ohneda

Hiratsuka

Kawame

et al. 2022

JMA J

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Introduction: Pharmacogenomic (PGx) testing results provide valuable information on drug selection and appropriate dosing, maximization of efficacy, and minimization of adverse effects. Although the number of large-scale, next-generation-sequencing-based PGx studies has recently increased, little is known about the risks and benefits of returning PGx results to ostensibly healthy individuals in research settings. Methods: Single-nucleotide variants of three actionable PGx genes, namely, MT-RNR1 , CYP2C19 , and NUDT15 , were returned to 161 participants in a population-based Tohoku Medical Megabank project. Informed consent was obtained from the participants after a seminar on the outline of this study. The results were sent by mail alongside sealed information letter intended for clinicians. As an exception, genetic counseling was performed for the MT-RNR1 m.1555A > G variant carriers by a medical geneticist, and consultation with an otolaryngologist was encouraged. Questionnaire surveys (QSs) were conducted five times to evaluate the participants’ understanding of the topic, psychological impact, and attitude toward the study. Results: Whereas the majority of participants were unfamiliar with the term PGx, and none had undergone PGx testing before the study, more than 80% of the participants felt that they could acquire basic PGx knowledge sufficient to understand their genomic results and were satisfied with their potential benefit and use in future prescriptions. On the other hand, some felt that the PGx concepts or terminology was difficult to fully understand and suggested that in-person return of the results was desirable. Conclusions: These results collectively suggest possible benefits of returning preemptive PGx information to ostensibly healthy cohort participants in a research setting.

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The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank Project

Cited by 9 publications

References 49 publications

Applying implementation science to improve care for familial hypercholesterolemia

Applying implementation science to improve care for familial hypercholesterolemia

The Health History of First-Degree Relatives’ Dyslipidemia Can Affect Preferences and Intentions following the Return of Genomic Results for Monogenic Familial Hypercholesterolemia

A Pilot Study for Return of Individual Pharmacogenomic Results to Population-Based Cohort Study Participants

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