Advances in Genetics and Precision Medicine in Human Diseases: 2nd Edition

Topic Information

Dear Colleagues,

This Topic is the second edition of the collection “Advances in Genetics and Precision Medicine in Human Diseases”, available at https://www.mdpi.com/topics/98LR07PF55.

Precision medicine is an emerging approach for disease treatment using genetics and genomics information. The majority of genetic variants are probably functionally neutral and can exert variant-specific effects on the regulation of gene expression. Such genetic variants are vital because they can be used as biomarkers that indicate the prognosis of potentially malignant and malignant lesions and may thus be involved in early intervention and diagnosis in patients at high risk. We are pleased to invite you to submit a paper to our Special Issue “Advances in Genetics and Precision Medicine in Human Diseases”. We look forward to receiving your contributions.

Prof. Dr. Shun-Fa Yang
Dr. Shih-Chi Su
Topic Editors

Keywords

Participating Journals

Journal Name	Impact Factor	CiteScore	Launched Year	First Decision (median)	APC
Cancers cancers	4.8	9.0	2009	17.5 Days	CHF 2900	Submit
Diagnostics diagnostics	3.8	6.9	2011	20.4 Days	CHF 2600	Submit
Diseases diseases	3.7	4.2	2013	21.6 Days	CHF 1800	Submit
International Journal of Molecular Sciences ijms	5.6	10.0	2000	17.5 Days	CHF 2900	Submit
Journal of Personalized Medicine jpm	-	7.2	2011	23 Days	CHF 2600	Submit

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Published Papers (3 papers)

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All Cancers Diagnostics Diseases IJMS JPM

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15 pages, 572 KB  

Open AccessArticle

Impact of Gene Polymorphism rs2275913 and Serum IL-17A Levels on Liver Fibrosis Severity Across the Natural History of Chronic Hepatitis B in Indonesia

by Ummi Maimunah, Andrio Palayukan, Juniastuti, Brahmana Askandar Tjokroprawiro and Muhammad Miftahussurur

Diseases 2026, 14(7), 227; https://doi.org/10.3390/diseases14070227 - 25 Jun 2026

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Abstract

Background: A complex interplay between viral activity and host immune responses drives the progression of liver fibrosis in chronic hepatitis B. The T helper 17 (Th17) immune pathway, which produces the pro-inflammatory cytokine interleukin-17A (IL-17A), has been implicated in hepatic fibrogenesis. However, the [...] Read more.

Background: A complex interplay between viral activity and host immune responses drives the progression of liver fibrosis in chronic hepatitis B. The T helper 17 (Th17) immune pathway, which produces the pro-inflammatory cytokine interleukin-17A (IL-17A), has been implicated in hepatic fibrogenesis. However, the relationship between IL-17A levels, IL-17A G197A (rs2275913) gene SNP, and the degree of liver fibrosis across different phases of the natural history of chronic hepatitis B remains insufficiently explored. Methods: This study employed an analytical observational design with a cross-sectional approach in treatment-naïve patients with chronic hepatitis B. The degree of liver fibrosis was assessed using liver elastography. IL-17A (rs2275913) gene SNP was analysed using Real-Time PCR, while serum IL-17A levels were measured using enzyme-linked immunosorbent assay. Statistical analyses included Spearman’s correlation, the contingency coefficient, the Chi-square test, the Kruskal–Wallis test, and the Mann–Whitney test, with a significance level set at p < 0.05. Results: A total of 76 patients with chronic hepatitis B were included in this study. The phase of disease progression was significantly associated with the degree of liver fibrosis (p = 0.016). Median IL-17A levels increased in parallel with fibrosis severity (p = 0.003), with a particularly significant association observed during the R phase (p = 0.002). However, no significant association was found between the IL-17A G197A (rs2275913) gene SNP and either liver fibrosis severity or serum IL-17A levels. Conclusions: Elevated serum IL-17A levels were associated with greater liver fibrosis severity, particularly during the reactivation phase of chronic hepatitis B. These findings suggest a potential relationship between IL-17A-mediated immune responses and liver fibrosis in patients with chronic hepatitis B. Full article

(This article belongs to the Topic Advances in Genetics and Precision Medicine in Human Diseases: 2nd Edition)

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9 pages, 699 KB  

Open AccessBrief Report

Variant Allelic Frequency to Track Therapy Response and Evaluate Leptomeningeal Disease in Metastatic Central Nervous System Cancers

by Vindhya Udhane, Alexandra Larson, Jennifer N. Adams, Rakshitha Jagadish, Anthony Acevedo, Brett A. Domagala, Samantha A. Vo, Tarin Peltier, Daniel Sanchez, Viriya Keo, Julianna Ernst, Kala F. Schilter, Qian Nie and Honey V. Reddi

Diagnostics 2026, 16(6), 851; https://doi.org/10.3390/diagnostics16060851 - 13 Mar 2026

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Abstract

Background: Diagnosis of leptomeningeal disease (LMD) remains a clinical challenge due to nonspecific neurological symptoms, limitations of imaging, and the low sensitivity of cerebrospinal fluid (CSF) cytology. Molecular biomarkers, such as circulating tumor DNA (ctDNA) variant allele frequencies (VAFs), offer potential for [...] Read more.

Background: Diagnosis of leptomeningeal disease (LMD) remains a clinical challenge due to nonspecific neurological symptoms, limitations of imaging, and the low sensitivity of cerebrospinal fluid (CSF) cytology. Molecular biomarkers, such as circulating tumor DNA (ctDNA) variant allele frequencies (VAFs), offer potential for improved detection and disease monitoring. Methods: Gene-level VAFs were analyzed from 118 Summit™ positive CSF specimens and evaluated in the context of clinical diagnosis, neurological presentation, neuroimaging, and CSF cytology. Longitudinal analyses were performed on serial CSF samples to assess VAF dynamics following therapy. Results: Longitudinal assessment demonstrated that decreases in VAF post-treatment aligned with clinical stabilization, whereas rising or persistent VAFs reflected disease progression, therapeutic resistance, or evolving clonal mutations. Elevated VAFs correlated strongly with clinically confirmed LMD and were concordant with radiographic and clinical indicators of disease. Conclusions: VAF analysis in CSF provides a quantitative biomarker for the detection and monitoring of metastatic CNS disease. These findings support its utility as a complementary tool to conventional diagnostics, offering real-time insights into disease burden, therapeutic response, and clonal evolution in LMD. Full article

(This article belongs to the Topic Advances in Genetics and Precision Medicine in Human Diseases: 2nd Edition)

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13 pages, 657 KB  

Open AccessArticle

Assessing Willingness to Pay for Genetic Testing Among Adults: A Cross-Sectional Study Using Data from the Omnibus Survey 2022

by Angelo Navas, Lauren Hendy and Megan Roberts

J. Pers. Med. 2026, 16(3), 154; https://doi.org/10.3390/jpm16030154 - 7 Mar 2026

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Abstract

Background: Population genetic screening (PGS) serves an essential role in identifying individuals at higher risk for hereditary cancer and cardiovascular disease. Nevertheless, the current lack of insurance coverage for screening costs might pose a barrier to its adoption. Health systems might contemplate covering [...] Read more.

Background: Population genetic screening (PGS) serves an essential role in identifying individuals at higher risk for hereditary cancer and cardiovascular disease. Nevertheless, the current lack of insurance coverage for screening costs might pose a barrier to its adoption. Health systems might contemplate covering these test expenses, but individuals covered by Medicaid and Medicare may not qualify for cost-free screening due to constraints related to the Beneficiary Inducement Statute. Methods: A cross-sectional online survey was administered to 602 US adults in January 2023. Andersen’s model guided variable selection. An ordered probit model was deployed to explore the association between insurance type and willingness to pay (WTP) for PGS, controlling for demographic and healthcare characteristics. Results: Among the 602 respondents, 524 (87%) were included in our analysis. Over 70% (n = 373) of participants expressed WTP for genetic testing. A similar proportion of respondents with Medicare and Medicaid expressed WTP for screening (68%, and 70%, respectively). Insurance type was not significantly associated with WTP for genetic testing. Notably, lower trust levels and absence of family cancer history were associated with a lower probability of expressing high WTP compared to the reference categories (high levels of trust and having a family cancer history). Conclusions: WTP for genetic testing was not significantly associated with insurance type. Almost 30% of our sample were unwilling to pay for PGS, suggesting variability in WTP for PGS and adding to the limited literature on how individuals value genomic screening tests. Full article

(This article belongs to the Topic Advances in Genetics and Precision Medicine in Human Diseases: 2nd Edition)

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