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Integrating Genomics into Basic and Clinical Research
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Integrating Genomics into Basic and Clinical Research

A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Omics/Informatics".

Deadline for manuscript submissions: closed (10 February 2022) | Viewed by 9525

Special Issue Editor

Dr. Kurt D Christensen

E-Mail Website
Guest Editor
Precision Medicine Translational Research Center, Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, MA 02115, USA
Interests: genetic testing; health behavior; economics; genetic counseling; pharmacogenomic testing; primary health care

Special Issue Information

Dear Colleagues,

The integration of genomics into basic and clinical research has greatly advanced our understandings about the relationship between genes and health, leading to revolutionized approaches to disease management and prevention. These benefits will only increase with time as genetics testing capabilities and bioinformatic approaches improve and costs decrease.

The Journal of Personalized Medicine aims to publish a collection of articles that address the benefits, risks, and challenges of integrating genetics into basic and clinical research. We will consider original research, systematic reviews, and well-designed case studies about, but not limited to, the following topics.

  • Benefits of and barriers to innovative approaches to analyzing genomic information.
  • Novel methods for and practical challenges to integrating genomics into clinical studies or research networks.
  • Approaches and outcomes for returning individual genomic research results.
  • Ethical and legal challenges associated with integrating genetics into basic and clinical research.

We encourage articles that address topics related to diversity and populations traditionally underrepresented in biomedical research. We also encourage articles that address polygenic risk scores.

Dr. Kurt D Christensen
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Personalized Medicine is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • Genetic testing
  • Genetic research
  • Research design
  • Research ethics
  • Sequence analysis
  • Pharmacogenetics
  • Multifactorial Inheritance

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Further information on MDPI's Special Issue polices can be found here.

Published Papers (3 papers)

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Research

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14 pages, 3522 KiB  
Article
RNF8–CDH1 Co-Expression Predicts Clinical Benefit of Chemoradiotherapy in Triple-Negative Breast Cancer
by Chieh-Ni Kao, Sin-Hua Moi, Ming-Feng Hou, Chi-Wen Luo, Fang-Ming Chen and Mei-Ren Pan
J. Pers. Med. 2021, 11(7), 655; https://doi.org/10.3390/jpm11070655 - 13 Jul 2021
Cited by 4 | Viewed by 2905 | Correction
Abstract
Triple-negative breast cancer (TNBC) is the most aggressive breast cancer subtype and exhibits an overall poor outcome. Due to the lack of targeted therapy, conventional systemic chemotherapy has been the main strategy for the treatment of TNBC. Further evidence has shown that combining [...] Read more.
Triple-negative breast cancer (TNBC) is the most aggressive breast cancer subtype and exhibits an overall poor outcome. Due to the lack of targeted therapy, conventional systemic chemotherapy has been the main strategy for the treatment of TNBC. Further evidence has shown that combining radiation with chemotherapy is also a suitable treatment based on DNA repair deficiencies in patients with TNBC. However, the preferred treatment for metastatic TNBC remains unclear. Therefore, identification of biomarkers is an unmet need in personalized therapy for TNBC. RNF8 (ring finger protein 8) is a ubiquitin ligase implicated in TNBC metastasis; however, its role in TNBC pathogenesis is unclear. The purpose of the present study was to investigate the roles of the RNF8–CDH1(Cadherin 1) axis in node-positive TNBC patients. We found that the RNF8high/CDH1low index was significantly higher in patients with TNBC than in patients without TNBC. Furthermore, patients with an RNF8high/CDH1low index displayed poorer outcomes than those with an RNF8low-medium/CDH1medium-high index. Notably, as compared to patients with an RNF8low-medium/CDH1medium-high index, those with an RNF8high/CDH1low index had a poorer survival rate with chemotherapy treatment alone. The combination of radiation and chemotherapy resulted in a better survival rate than chemotherapy alone in patients with an RNF8high/CDH1low index. Taken together, the RNF8high/CDH1low index not only functions as a prognostic and therapeutic marker but may also act as a target in the development of anti-cancer agents for patients with TNBC. Full article
(This article belongs to the Special Issue Integrating Genomics into Basic and Clinical Research)
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12 pages, 604 KiB  
Article
Pediatric Oncologists’ Experiences Returning and Incorporating Genomic Sequencing Results into Cancer Care
by Rebecca L. Hsu, Amanda M. Gutierrez, Sophie K. Schellhammer, Jill O. Robinson, Sarah Scollon, Richard L. Street, Jr., Alyssa N. Salisbury, Stacey Pereira, Sharon E. Plon, Janet Malek, D. Williams Parsons and Amy L. McGuire
J. Pers. Med. 2021, 11(6), 570; https://doi.org/10.3390/jpm11060570 - 18 Jun 2021
Cited by 2 | Viewed by 2808
Abstract
Pediatric oncologists’ perspectives around returning and incorporating tumor and germline genomic sequencing (GS) results into cancer care are not well-described. To inform optimization of cancer genomics communication, we assessed oncologists’ experiences with return of genomic results (ROR), including their preparation/readiness for ROR, collaboration [...] Read more.
Pediatric oncologists’ perspectives around returning and incorporating tumor and germline genomic sequencing (GS) results into cancer care are not well-described. To inform optimization of cancer genomics communication, we assessed oncologists’ experiences with return of genomic results (ROR), including their preparation/readiness for ROR, collaboration with genetic counselors (GCs) during ROR, and perceived challenges. The BASIC3 study paired pediatric oncologists with GCs to return results to patients’ families. We thematically analyzed 24 interviews with 12 oncologists at two post-ROR time points. Oncologists found pre-ROR meetings with GCs and geneticists essential to interpreting patients’ reports and communicating results to families. Most oncologists took a collaborative ROR approach where they discussed tumor findings and GCs discussed germline findings. Oncologists perceived many roles for GCs during ROR, including answering families’ questions and describing information in lay language. Challenges identified included conveying uncertain information in accessible language, limits of oncologists’ genetics expertise, and navigating families’ emotional responses. Oncologists emphasized how GCs’ and geneticists’ support was essential to ROR, especially for germline findings. GS can be successfully integrated into cancer care, but to account for the GC shortage, alternative ROR models and access to genetics resources will be needed to better support families and avoid burdening oncologists. Full article
(This article belongs to the Special Issue Integrating Genomics into Basic and Clinical Research)
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Review

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9 pages, 811 KiB  
Review
Association between CYP3A5 Polymorphism and Statin-Induced Adverse Events: A Systemic Review and Meta-Analysis
by Jeong Yee, Hamin Kim, Yunhee Heo, Ha-Young Yoon, Gonjin Song and Hye-Sun Gwak
J. Pers. Med. 2021, 11(7), 677; https://doi.org/10.3390/jpm11070677 - 19 Jul 2021
Cited by 7 | Viewed by 3111
Abstract
Purpose: Cytochrome P450 (CYP) is involved in the metabolism of statins; CYP3A5 is the main enzyme responsible for lipophilic statin metabolism. However, the evidence of the association between CYP3A5*3 polymorphism and the risk of statin-induced adverse events remains unclear. Therefore, this study aimed [...] Read more.
Purpose: Cytochrome P450 (CYP) is involved in the metabolism of statins; CYP3A5 is the main enzyme responsible for lipophilic statin metabolism. However, the evidence of the association between CYP3A5*3 polymorphism and the risk of statin-induced adverse events remains unclear. Therefore, this study aimed to perform a systematic review and meta-analysis to investigate the relationship between the CYP3A5*3 polymorphism and the risk of statin-induced adverse events. Methods: The PubMed, Web of Science, and EMBASE databases were searched for qualified studies published until August 2020. Observational studies that included the association between statin-induced adverse events and the CYP3A5*3 polymorphism were reviewed. The odds ratios (ORs) and 95% confidence intervals (CIs) were evaluated to assess the strength of the relationship. The Mantel–Haenszel method was used to provide the pooled ORs. Heterogeneity was estimated with I2 statistics and publication bias was determined by Begg’s and Egger’s test of the funnel plot. Data analysis was performed using Review Manager (version 5.4) and R Studio (version 3.6). Results: In total, data from 8 studies involving 1614 patients were included in this meta-analysis. The CYP3A5*3 polymorphism was found to be associated with the risk of statin-induced adverse events (*3/*3 vs. *1/*1 + *1/*3: OR = 1.40, 95% CI = 1.08–1.82). For myopathy, the pooled OR was 1.30 (95% CI: 0.96–1.75). The subgroup analysis of statin-induced myopathy revealed a trend, which did not achieve statistical significance. Conclusions: This meta-analysis demonstrated that the CYP3A5*3 polymorphism affected statin-induced adverse event risk. Therefore, CYP3A5 genotyping may be useful to predict statin toxicity. Full article
(This article belongs to the Special Issue Integrating Genomics into Basic and Clinical Research)
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