Editorial: The Importance of Diversity in Precision Medicine Research

Bailey, Jessica N. Cooke; Bush, William S.; Crawford, Dana C.

doi:10.3389/fgene.2020.00875

Cited by 9 publications

(7 citation statements)

References 22 publications

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“…Genetic studies in a diverse population can uncover unique risk or protective variants that might not be apparent in more homogeneous populations. This knowledge is essential for advancing population medicine and/or personalized medicine, including but not limited to: (i) risk prediction, (ii) disease susceptibility, diagnosis, or prognosis, (iii) drug therapy optimization to increase treatment effectiveness and minimize adverse effects, and (iv) public health strategies for disease prevention and health promotion [ 57 , 58 ]. It is also important to emphasize the regional variations within Brazil.…”

Section: Discussionmentioning

confidence: 99%

HLA-G Gene Variability Is Associated with Papillary Thyroid Carcinoma Morbidity and the HLA-G Protein Profile

Bertol

Debortoli

Dias

et al. 2023

IJMS

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Human leukocyte antigen (HLA)-G is an immune checkpoint molecule that is highly expressed in papillary thyroid carcinoma (PTC). The HLA-G gene presents several functional polymorphisms distributed across the coding and regulatory regions (5′URR: 5′ upstream regulatory region and 3′UTR: 3′ untranslated region) and some of them may impact HLA-G expression and human malignancy. To understand the contribution of the HLA-G genetic background in PTC, we studied the HLA-G gene variability in PTC patients in association with tumor morbidity, HLA-G tissue expression, and plasma soluble (sHLA-G) levels. We evaluated 185 PTC patients and 154 healthy controls. Polymorphic sites defining coding, regulatory and extended haplotypes were characterized by sequencing analyses. HLA-G tissue expression and plasma soluble HLA-G levels were evaluated by immunohistochemistry and ELISA, respectively. Compared to the controls, the G0104a(5′URR)G*01:04:04(coding)UTR-03(3’UTR) extended haplotype was underrepresented in the PTC patients, while G0104a(5′URR)G*01:04:01(coding)UTR-03(3′UTR) was less frequent in patients with metastatic and multifocal tumors. Decreased HLA-G tissue expression and undetectable plasma sHLA-G were associated with the G010102a(5′URR)G*01:01:02:01(coding)UTR-02(3′UTR) extended haplotype. We concluded that the HLA-G variability was associated with PTC development and morbidity, as well as the magnitude of the encoded protein expression at local and systemic levels.

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Section: Discussionmentioning

confidence: 99%

HLA-G Gene Variability Is Associated with Papillary Thyroid Carcinoma Morbidity and the HLA-G Protein Profile

Bertol

Debortoli

Dias

et al. 2023

IJMS

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“…One issue is eugenic counseling, which stresses the future of the gene pool by increasing desirable traits and preventing unwanted traits, emphasizing the prevention of birth of those with birth defects ( Than and Papp, 2017 ). In addition, the evolution of precision medicine stems from the use of genetic testing to treat and improve the understanding of diseases at a biochemical or genetic level ( Bailey et al, 2020 ). This extends to the use of prenatal genome editing, which is highly controversial.…”

Section: Discussionmentioning

confidence: 99%

Difficulties of Prenatal Genetic Counseling for a Subsequent Child in a Family With Multiple Genetic Variations

Huang

Chen

et al. 2021

Front. Genet.

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Many parents with a disabled child caused by a genetic condition appreciate the option of prenatal genetic diagnosis to understand the chance of recurrence in a future pregnancy. Genome-wide tests, such as chromosomal microarray analysis and whole-exome sequencing, have been increasingly used for prenatal diagnosis, but prenatal counseling can be challenging due to the complexity of genomic data. This situation is further complicated by incidental findings of additional genetic variations in subsequent pregnancies. Here, we report the prenatal identification of a baby with a MECP2 missense variant and 15q11.2 microduplication in a family that has had a child with developmental and epileptic encephalopathy caused by a de novo KCNQ2 variant. An extended segregation analysis including extended relatives, in addition to the parents, was carried out to provide further information for genetic counseling. This case illustrates the challenges of prenatal counseling and highlights the need to understand the clinical and ethical implications of genome-wide tests.

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“…The precision medicine revolution has not advanced our understanding of medicine in all populations equally. Genomic and pharmacogenomic studies have overwhelmingly been conducted in patients of European ancestry 7,8 . Some patient populations, such as pregnant or paraplegic patients, are regularly excluded from clinical trials and postmarket studies due to difficulties they present in data collection or modeling 9–12 .…”

Section: Figurementioning

confidence: 99%

Clinical Decision Support for Precision Dosing: Opportunities for Enhanced Equity and Inclusion in Health Care

Hughes¹,

Woo²,

Keizer³

et al. 2022

Clin Pharma and Therapeutics

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Precision dosing aims to tailor doses to individual patients with the goal of improving treatment efficacy and avoiding toxicity. Clinical decision support software (CDSS) plays a crucial role in mediating this process, translating knowledge derived from clinical trials and real-world data (RWD) into actionable insights for clinicians to use at the point of care. However, not all patient populations are proportionally represented in clinical trials and other data sources that inform CDSS tools, limiting the applicability of these tools for underrepresented populations. Here, we review some of the limitations of existing CDSS tools and discuss methods for overcoming these gaps. We discuss considerations for study design and modeling to create more inclusive CDSS, particularly with an eye toward better incorporation of biological indicators in place of race, ethnicity, or sex. We also review inclusive practices for collection of these demographic data, during both study design and in software user interface design. Because of the role CDSS plays in both recording routine clinical care data and disseminating knowledge derived from data, CDSS presents a promising opportunity to continuously improve precision dosing algorithms using RWD to better reflect the diversity of patient populations.

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Editorial: The Importance of Diversity in Precision Medicine Research

Cited by 9 publications

References 22 publications

HLA-G Gene Variability Is Associated with Papillary Thyroid Carcinoma Morbidity and the HLA-G Protein Profile

HLA-G Gene Variability Is Associated with Papillary Thyroid Carcinoma Morbidity and the HLA-G Protein Profile

Difficulties of Prenatal Genetic Counseling for a Subsequent Child in a Family With Multiple Genetic Variations

Clinical Decision Support for Precision Dosing: Opportunities for Enhanced Equity and Inclusion in Health Care

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