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Diagnostics
Special Issues
Advanced Role of Genetic Biomarkers in Clinical Diagnostics
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Advanced Role of Genetic Biomarkers in Clinical Diagnostics

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (15 July 2023) | Viewed by 2519

Special Issue Editor

Prof. Dr. Mohammad Safiqul Islam

E-Mail Website
Guest Editor
Professor and Chairman, Department of Pharmacy, Noakhali Science and Technology University, Sonapur, Noakhali 3814, Bangladesh
Interests: molecular biology; cancer biomarkers; PCR; genomics; DNA sequencing; molecular genetics; DNA; gel electrophoresis; sequencing; DNA sequence analysis

Special Issue Information

Dear Colleagues,

Scientific studies have always focused on pinpointing novel causes of diseases. Physical, functional, and biochemical signs are all biomarkers that may be used to track illness and disorder. A genetic biomarker is a segment of DNA that has been pinpointed to a specific position on a chromosome. The prospect of GBs in patient diagnostics and novel therapies has received fresh attention since their development. GBs may be used to identify the underlying genetic cause of a hereditary disorder. The successful creation of relevant biomarkers will constitute a stride advance in the individualization of diagnosis, treatment, and monitoring. However, there can be no assurance that patients' lives will be prolonged or their living quality enhanced without earlier detection and successful therapeutic approaches. GBs that are reliable, repeatable, and readily available may aid in diagnosis and help pinpoint the root cause of an issue. Clinically, GBs have been used to screen for diagnosis, monitor symptomatology, guide biochemically targeted treatment and tailored regimens, and evaluate treatment outcomes. Numerous genetic biomarkers have the potential to be associated with an extensive scope of clinical events and procedures.

This Special Issue investigates the rapidly developing area of emerging genetic biomarkers (GBs) in clinical diagnostics and their applications, which offer fresh impetus to the clinical care of patients.

Prof. Dr. Mohammad Safiqul Islam
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. Diagnostics is an international peer-reviewed open access semimonthly 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 biomarkers
  • genomics
  • proteomics
  • metabolomics
  • epigenomics
  • molecular biology
  • clinical trials
  • precision medicine
  • predictive diagnostics
  • prognostic diagnostics
  • targeted therapy
  • genetic biomarkers of cancer
  • outcome

Published Papers (1 paper)

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Research

13 pages, 2097 KiB  
Article
A Benchmark of In-House Homologous Recombination Repair Deficiency Testing Solutions for High-Grade Serous Ovarian Cancer Diagnosis
by Rodrigo Guarischi-Sousa, José Eduardo Kroll, Adriano Bonaldi, Paulo Marques Pierry, Darine Villela, Camila Alves Souza, Juliana Santos Silva, Matheus Carvalho Bürger, Felipe Azevedo Oliveira, Marcelo Gomes de Paula, Fabiana Marcelino Meliso, Luiz Gustavo de Almeida, Priscilla Morais Monfredini, Ana Gabriela de Oliveira, Fernanda Milanezi, Cristovam Scapulatempo-Neto and Guilherme Lopes Yamamoto
Diagnostics 2023, 13(21), 3293; https://doi.org/10.3390/diagnostics13213293 - 24 Oct 2023
Viewed by 1972
Abstract
Homologous recombination deficiency (HRD) has become an important prognostic and predictive biomarker for patients with high-grade serous ovarian cancer who may benefit from poly-ADP ribose polymerase inhibitors (PARPi) and platinum-based therapies. HRD testing provides relevant information to personalize patients’ treatment options and has [...] Read more.
Homologous recombination deficiency (HRD) has become an important prognostic and predictive biomarker for patients with high-grade serous ovarian cancer who may benefit from poly-ADP ribose polymerase inhibitors (PARPi) and platinum-based therapies. HRD testing provides relevant information to personalize patients’ treatment options and has been progressively incorporated into diagnostic laboratories. Here, we assessed the performance of an in-house HRD testing system deployable in a diagnostic clinical setting, comparing results from two commercially available next-generation sequencing (NGS)-based tumor tests (SOPHiA DDMTM HRD Solution and AmoyDx® (HRD Focus Panel)) with the reference assay from Myriad MyChoice® (CDx). A total of 85 ovarian cancer samples were subject to HRD testing. An overall strong correlation was observed across the three assays evaluated, regardless of the different underlying methods employed to assess genomic instability, with the highest pairwise correlation between Myriad and SOPHiA (R = 0.87, p-value = 3.39 × 10−19). The comparison of the assigned HRD status to the reference Myriad’s test revealed a positive predictive value (PPV) and negative predictive value (NPV) of 90.9% and 96.3% for SOPHiA’s test, while AmoyDx’s test achieved 75% PPV and 100% NPV. This is the largest HRD testing evaluation using different methodologies and provides a clear picture of the robustness of NGS-based tests currently offered in the market. Our data shows that the implementation of in-house HRD testing in diagnostic laboratories is technically feasible and can be reliably performed with commercial assays. Also, the turnaround time is compatible with clinical needs, making it an ideal alternative to offer to a broader number of patients while maintaining high-quality standards at more accessible price tiers. Full article
(This article belongs to the Special Issue Advanced Role of Genetic Biomarkers in Clinical Diagnostics)
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