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Advances in Genetic Counseling and Genetic Testing in Precision Medicine
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Advances in Genetic Counseling and Genetic Testing in Precision Medicine

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (20 August 2024) | Viewed by 8066

Special Issue Editors

Prof. Dr. Hiroki Kurahashi

E-Mail Website
Guest Editor
Division of Molecular Genetics, Center for Medical Science, Fujita Health University, Toyoake 470-1192, Japan
Interests: cytogenetics; cytogenomics; molecular cytogenetics; preimplantation genetic testing; prenatal genetic testing
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Tomoki Kosho

E-Mail Website
Guest Editor
1. Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto 390-8621, Japan
2. Center for Medical Genetics, Shinshu University Hospital, Matsumoto 390-8621, Japan
3. Research Center for Supports to Advanced Science, Matsumoto 390-8621, Japan
4. Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto 390-8621, Japan
5. BioBank Shinshu, Shinshu University Hospital, Matsumoto 390-8621, Japan
Interests: Ehlers–Danlos syndrome; medical genetics; human genetics
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Atsushi Watanabe

E-Mail Website
Guest Editor
1. Division of Clinical Genetics, Kanazawa University Hospital, Kanazawa 920-8640, Japan
2. Support Center for Genetic Medicine, Kanazawa University Hospital, Kanazawa 920-8640, Japan
Interests: clinical genetics; medical genetics education; genetic counseling; hypophosphatasia
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Tomoharu Tokutomi

E-Mail Website
Guest Editor
1. Department of Pediatrics, Kawasaki Medical School, Kurashiki 701-0192, Japan
2. Department of Pediatrics, Kawasaki Medical School Hospital, Kurashiki 701-0192, Japan
Interests: clinical genetics; dysmorphology; family health history; genetic counseling; pedigree
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

As we progress towards an era dominated by genomic medicine, the tools at its forefront—genetic counseling and testing—are becoming invaluable components of individualized healthcare. These approaches, rooted in advanced genomic analysis techniques, promise to transform traditional paradigms, ensuring that medical interventions are tailored to the unique genetic makeup of each individual. This Special Issue, "Advances in Genetic Counseling and Genetic Testing in Precision Medicine", encapsulates this evolution. We are particularly keen on spotlighting studies that delve into the advancements in genetic counseling, genetic testing methodologies, and real-world applications, showcasing their integration into precision medicine. Furthermore, discussions that bridge the gap between theory and practice, emphasizing the tangible impacts of these tools on patient outcomes, will be highly esteemed. We encourage luminaries in the field to share their insights, findings, and visions, helping to chart the course of genomic medicine's promising future.

Prof. Dr. Hiroki Kurahashi
Prof. Dr. Tomoki Kosho
Prof. Dr. Atsushi Watanabe
Prof. Dr. Tomoharu Tokutomi
Guest Editors

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. Genes 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

  • clinical integration of genomic data
  • ethical and socioeconomic implications
  • family health history
  • genetic risk assessment
  • medical genetics education
  • next-generation sequencing in diagnosis
  • personalized genomic medicine
  • bioinformatics in genomics
  • pharmacogenomics and drug response
  • genetic counseling and decision making
  • molecular biomarkers in disease
  • genomics of rare diseases
  • population genetics and evolutionary studies
  • epigenetics and gene regulation
  • artificial intelligence and machine learning in genomics
  • genomic data privacy and security
  • translational genomics and therapeutics

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Published Papers (5 papers)

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Research

18 pages, 2904 KiB  
Article
Relationship between Capillaroscopic Architectural Patterns and Different Variant Subgroups in Fabry Disease: Analysis of Cases from a Multidisciplinary Center
by Denise Cristiana Faro, Francesco Lorenzo Di Pino, Margherita Stefania Rodolico, Luca Costanzo, Valentina Losi, Luigi Di Pino and Ines Paola Monte
Genes 2024, 15(8), 1101; https://doi.org/10.3390/genes15081101 - 21 Aug 2024
Viewed by 899
Abstract
Anderson–Fabry disease (AFD) is a genetic lysosomal storage disorder caused by mutations in the α-galactosidase A gene, leading to impaired lysosomal function and resulting in both macrovascular and microvascular alterations. AFD patients often exhibit increased intima-media thickness (IMT) and reduced flow-mediated dilation (FMD), [...] Read more.
Anderson–Fabry disease (AFD) is a genetic lysosomal storage disorder caused by mutations in the α-galactosidase A gene, leading to impaired lysosomal function and resulting in both macrovascular and microvascular alterations. AFD patients often exhibit increased intima-media thickness (IMT) and reduced flow-mediated dilation (FMD), indicating non-atherosclerotic arterial thickening and the potential for cardiovascular events. Nailfold capillaroscopy, a non-invasive diagnostic tool, has shown potential in diagnosing and monitoring microcirculatory disorders in AFD, despite limited research. This study evaluates nailfold capillaroscopy findings in AFD patients, exploring correlations with GLA gene variant subgroups (associated with classical or late-onset phenotypes and variants of uncertain significance (VUSs)), and assessing morpho-functional differences between sexes. It aims to determine whether capillaroscopy can assist in the early identification of individuals with multiorgan vascular involvement. A retrospective observational study was conducted with 25 AFD patients from AOUP “G. Rodolico-San Marco” in Catania (2020–2023). Patients underwent genetic testing, enzyme activity evaluation, and nailfold capillaroscopy using Horus basic HS 200 videodermatoscopy. Parameters like angiotectonic disorder, vascular areas, capillary density, and intimal thickening were assessed. The study identified significant differences in capillaroscopy findings among patients with different GLA gene variant subgroups. Classic AFD variant patients showed reduced capillary length and signs of erythrocyte aggregation and dilated subpapillary plexus. No correlation was found between enzymatic activity and capillaroscopy parameters. However, Lyso-Gb3 levels were positively correlated with average capillary length (ῤ = 0.453; p = 0.059). Sex-specific differences in capillaroscopy findings were observed in neoangiogenesis and average capillary length, with distinct implications for men and women. This study highlights the potential of nailfold capillaroscopy in the diagnostic process and clinical management of AFD, particularly in relation to specific GLA gene mutations, as a valuable tool for the early diagnosis and monitoring of AFD. Full article
(This article belongs to the Special Issue Advances in Genetic Counseling and Genetic Testing in Precision Medicine)
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17 pages, 571 KiB  
Article
Overcoming Barriers: Strategies for Implementing Pharmacist-Led Pharmacogenetic Services in Swiss Clinical Practice
by Florine M. Wiss, Deborah Jakober, Markus L. Lampert and Samuel S. Allemann
Genes 2024, 15(7), 862; https://doi.org/10.3390/genes15070862 - 1 Jul 2024
Viewed by 1188
Abstract
There is growing evidence that pharmacogenetic analysis can improve drug therapy for individual patients. In Switzerland, pharmacists are legally authorized to initiate pharmacogenetic tests. However, pharmacogenetic tests are rarely conducted in Swiss pharmacies. Therefore, we aimed to identify implementation strategies that facilitate the [...] Read more.
There is growing evidence that pharmacogenetic analysis can improve drug therapy for individual patients. In Switzerland, pharmacists are legally authorized to initiate pharmacogenetic tests. However, pharmacogenetic tests are rarely conducted in Swiss pharmacies. Therefore, we aimed to identify implementation strategies that facilitate the integration of a pharmacist-led pharmacogenetic service into clinical practice. To achieve this, we conducted semi-structured interviews with pharmacists and physicians regarding the implementation process of a pharmacist-led pharmacogenetic service. We utilized the Consolidated Framework for Implementation Research (CFIR) to identify potential facilitators and barriers in the implementation process. Additionally, we employed Expert Recommendations for Implementing Change (ERIC) to identify strategies mentioned in the interviews and used the CFIR-ERIC matching tool to identify additional strategies. We obtained interview responses from nine pharmacists and nine physicians. From these responses, we identified 7 CFIR constructs as facilitators and 12 as barriers. Some of the most commonly mentioned barriers included unclear procedures, lack of cost coverage by health care insurance, insufficient pharmacogenetics knowledge, lack of interprofessional collaboration, communication with the patient, and inadequate e-health technologies. Additionally, we identified 23 implementation strategies mentioned by interviewees using ERIC and 45 potential strategies using the CFIR-ERIC matching tool. In summary, we found that significant barriers hinder the implementation process of this new service. We hope that by highlighting potential implementation strategies, we can advance the integration of a pharmacist-led pharmacogenetic service in Switzerland. Full article
(This article belongs to the Special Issue Advances in Genetic Counseling and Genetic Testing in Precision Medicine)
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10 pages, 1322 KiB  
Article
Inherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic
by Michael James Gilhooley, Naz Raoof, Patrick Yu-Wai-Man and Mariya Moosajee
Genes 2024, 15(2), 188; https://doi.org/10.3390/genes15020188 - 30 Jan 2024
Cited by 1 | Viewed by 1407
Abstract
Inherited optic neuropathies affect around 1 in 10,000 people in England; in these conditions, vision is lost as retinal ganglion cells lose function or die (usually due to pathological variants in genes concerned with mitochondrial function). Emerging gene therapies for these conditions have [...] Read more.
Inherited optic neuropathies affect around 1 in 10,000 people in England; in these conditions, vision is lost as retinal ganglion cells lose function or die (usually due to pathological variants in genes concerned with mitochondrial function). Emerging gene therapies for these conditions have emphasised the importance of early and expedient molecular diagnoses, particularly in the paediatric population. Here, we report our real-world clinical experience of such a population, exploring which children presented with the condition, how they were investigated and the time taken for a molecular diagnosis to be reached. A retrospective case-note review of paediatric inherited optic neuropathy patients (0–16 years) in the tertiary neuro-ophthalmology service at Moorfields Eye Hospital between 2016 and 2020 identified 19 patients. Their mean age was 9.3 ± 4.6 (mean ± SD) years at presentation; 68% were male, and 32% were female; and 26% had comorbidities, with diversity of ethnicity. Most patients had undergone genetic testing (95% (n = 18)), of whom 43% (n = 8) received a molecular diagnosis. On average, this took 54.8 ± 19.5 weeks from presentation. A cerebral MRI was performed in 70% (n = 14) and blood testing in 75% (n = 15) of patients as part of their workup. Continual improvement in the investigative pathways for inherited optic neuropathies will be paramount as novel therapeutics become available. Full article
(This article belongs to the Special Issue Advances in Genetic Counseling and Genetic Testing in Precision Medicine)
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13 pages, 2437 KiB  
Article
Stakeholder Perception of the Implementation of Genetic Risk Testing for Twelve Multifactorial Diseases
by Tomoharu Tokutomi, Akiko Yoshida, Akimune Fukushima, Fuji Nagami, Yuko Minoura and Makoto Sasaki
Genes 2024, 15(1), 49; https://doi.org/10.3390/genes15010049 - 28 Dec 2023
Viewed by 1606
Abstract
Genome-wide association studies have been employed to develop numerous risk prediction models using polygenic risk scores (PRSs) for multifactorial diseases. However, healthcare providers lack confidence in their understanding of PRS risk stratification for multifactorial diseases, which underscores the need to assess the readiness [...] Read more.
Genome-wide association studies have been employed to develop numerous risk prediction models using polygenic risk scores (PRSs) for multifactorial diseases. However, healthcare providers lack confidence in their understanding of PRS risk stratification for multifactorial diseases, which underscores the need to assess the readiness of PRSs for clinical use. To address this issue, we surveyed the perceptions of healthcare providers as stakeholders in the clinical implementation of genetic-based risk prediction for multifactorial diseases. We conducted a web-based study on the need for risk prediction based on genetic information and the appropriate timing of testing for 12 multifactorial diseases. Responses were obtained from 506 stakeholders. Positive perceptions of genetic risk testing were found for adult-onset chronic diseases. As per participant opinion, testing for adult-onset diseases should be performed after the age of 20 years, whereas testing for psychiatric and allergic disorders that manifest during childhood should be performed from birth to 19 years of age. The stakeholders recognized the need for genetic risk testing for diseases that develop in adulthood, believing that the appropriate testing time is after maturity. This study contributes to the discussion on the clinical implementation of the PRS for genetic risk prediction of multifactorial diseases. Full article
(This article belongs to the Special Issue Advances in Genetic Counseling and Genetic Testing in Precision Medicine)
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13 pages, 2026 KiB  
Article
Prognostic Value of Genotype–Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool
by Katarína Kušíková, Andrea Šoltýsová, Andrej Ficek, René G. Feichtinger, Johannes A. Mayr, Martina Škopková, Daniela Gašperíková, Miriam Kolníková, Karoline Ornig, Ognian Kalev, Serge Weis and Denisa Weis
Genes 2023, 14(12), 2174; https://doi.org/10.3390/genes14122174 - 3 Dec 2023
Cited by 1 | Viewed by 1805
Abstract
Background: X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from dysfunction of the protein myotubularin encoded by the MTM1 gene. XLMTM has a high neonatal and infantile mortality rate due to a severe myopathic phenotype and respiratory failure. However, in a [...] Read more.
Background: X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from dysfunction of the protein myotubularin encoded by the MTM1 gene. XLMTM has a high neonatal and infantile mortality rate due to a severe myopathic phenotype and respiratory failure. However, in a minority of XLMTM cases, patients present with milder phenotypes and achieve ambulation and adulthood. Notable facial dysmorphia is also present. Methods: We investigated the genotype–phenotype correlations in newly diagnosed XLMTM patients in a patients’ cohort (previously published data plus three novel variants, n = 414). Based on the facial gestalt difference between XLMTM patients and unaffected controls, we investigated the use of the Face2Gene application. Results: Significant associations between severe phenotype and truncating variants (p < 0.001), frameshift variants (p < 0.001), nonsense variants (p = 0.006), and in/del variants (p = 0.036) were present. Missense variants were significantly associated with the mild and moderate phenotype (p < 0.001). The Face2Gene application showed a significant difference between XLMTM patients and unaffected controls (p = 0.001). Conclusions: Using genotype–phenotype correlations could predict the disease course in most XLMTM patients, but still with limitations. The Face2Gene application seems to be a practical, non-invasive diagnostic approach in XLMTM using the correct algorithm. Full article
(This article belongs to the Special Issue Advances in Genetic Counseling and Genetic Testing in Precision Medicine)
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