Special Issue "Personalized Medicine: The Future of Health Care"

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

Deadline for manuscript submissions: 20 September 2022 | Viewed by 4032

Special Issue Editor

Dr. Nina Sperber
E-Mail Website
Guest Editor
1. Durham VA Health Care System, Durham, NC, USA
2. Department of Population Health Sciences, Duke University School of Medicine, Durham, NC, USA
Interests: genomics; clinical decision support; clinical informatics; implementation science
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Growth in the type and amount of data that affect health care decisions has enhanced our ability to tailor prevention and treatment interventions. At the same time, technological advances in bio and clinical informatics have made it possible to integrate and use these data to support clinicians at the point of care. However, questions remain as to how to best integrate such innovations into existing practices and keep up with the pace of innovation for optimal outcomes. This Special Issue of the Journal of Personalized Medicine presents cutting-edge research and commentary to characterize the future of personalized medicine. Papers from multiple disciplinary perspectives focus on topics that have practical and policy relevance to help to advance the implementation of evidence-based innovation into routine healthcare.

Dr. Nina Sperber
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 2000 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 decision support
  • genomics
  • implementation science
  • health services
  • health systems
  • health policy

Published Papers (5 papers)

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Research

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Article
Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy
J. Pers. Med. 2022, 12(5), 733; https://doi.org/10.3390/jpm12050733 - 30 Apr 2022
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Abstract
Background: Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiomyopathy and can predispose individuals to sudden death. Most pediatric HCM patients host a known pathogenic variant in a sarcomeric gene. With the increase in exome sequencing (ES) in clinical settings, incidental variants in [...] Read more.
Background: Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiomyopathy and can predispose individuals to sudden death. Most pediatric HCM patients host a known pathogenic variant in a sarcomeric gene. With the increase in exome sequencing (ES) in clinical settings, incidental variants in HCM-associated genes are being identified more frequently. Diagnostic interpretation of incidental variants is crucial to enhance clinical patient management. We sought to use amino acid-level signal-to-noise (S:N) analysis to establish pathogenic hotspots in sarcomeric HCM-associated genes as well as to refine the 2015 American College of Medical Genetics (ACMG) criteria to predict incidental variant pathogenicity. Methods and Results: Incidental variants in HCM genes (MYBPC3, MYH7, MYL2, MYL3, ACTC1, TPM1, TNNT2, TNNI3, and TNNC1) were obtained from a clinical ES referral database (Baylor Genetics) and compared to rare population variants (gnomAD) and variants from HCM literature cohort studies. A subset of the ES cohort was clinically evaluated at Texas Children’s Hospital. We compared the frequency of ES and HCM variants at specific amino acid locations in coding regions to rare variants (MAF < 0.0001) in gnomAD. S:N ratios were calculated at the gene- and amino acid-level to identify pathogenic hotspots. ES cohort variants were re-classified using ACMG criteria with S:N analysis as a correlate for PM1 criteria, which reduced the burden of variants of uncertain significance. In the clinical validation cohort, the majority of probands with cardiomyopathy or family history hosted likely pathogenic or pathogenic variants. Conclusions: Incidental variants in HCM-associated genes were common among clinical ES referrals, although the majority were not disease-associated. Leveraging amino acid-level S:N as a clinical tool may improve the diagnostic discriminatory ability of ACMG criteria by identifying pathogenic hotspots. Full article
(This article belongs to the Special Issue Personalized Medicine: The Future of Health Care)
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Article
Collaborative Approach to Reach Everyone with Familial Hypercholesterolemia: CARE-FH Protocol
J. Pers. Med. 2022, 12(4), 606; https://doi.org/10.3390/jpm12040606 - 09 Apr 2022
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Abstract
The Collaborative Approach to Reach Everyone with Familial Hypercholesterolemia (CARE-FH) study aims to improve diagnostic evaluation rates for FH at Geisinger, an integrated health delivery system. This clinical trial relies upon implementation science to transition the initial evaluation for FH into primary care, [...] Read more.
The Collaborative Approach to Reach Everyone with Familial Hypercholesterolemia (CARE-FH) study aims to improve diagnostic evaluation rates for FH at Geisinger, an integrated health delivery system. This clinical trial relies upon implementation science to transition the initial evaluation for FH into primary care, attempting to identify individuals prior to the onset of atherosclerotic cardiovascular disease events. The protocol for the CARE-FH study of this paper is available online. The first phase of the project focuses on trial design, including the development of implementation strategies to deploy evidence-based guidelines. The second phase will study the intervention, rolled out regionally to internal medicine, community medicine, and pediatric care clinicians using a stepped-wedge design, and analyzing data on diagnostic evaluation rates, and implementation, service, and health outcomes. Full article
(This article belongs to the Special Issue Personalized Medicine: The Future of Health Care)
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Article
Conjoint Analysis: A Research Method to Study Patients’ Preferences and Personalize Care
J. Pers. Med. 2022, 12(2), 274; https://doi.org/10.3390/jpm12020274 - 13 Feb 2022
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Abstract
This article aims to describe the conjoint analysis (CA) method and its application in healthcare settings, and to provide researchers with a brief guide to conduct a conjoint study. CA is a method for eliciting patients’ preferences that offers choices similar to those [...] Read more.
This article aims to describe the conjoint analysis (CA) method and its application in healthcare settings, and to provide researchers with a brief guide to conduct a conjoint study. CA is a method for eliciting patients’ preferences that offers choices similar to those in the real world and allows researchers to quantify these preferences. To identify literature related to conjoint analysis, a comprehensive search of PubMed (MEDLINE), EMBASE, Web of Science, and Google Scholar was conducted without language or date restrictions. To identify the trend of publications and citations in conjoint analysis, an online search of all databases indexed in the Web of Science Core Collection was conducted on the 8th of December 2021 without time restriction. Searching key terms covered a wide range of synonyms related to conjoint analysis. The search field was limited to the title, and no language or date limitations were applied. The number of published documents related to CA was nearly 900 during the year 2021 and the total number of citations for CA documents was approximately 20,000 citations, which certainly shows that the popularity of CA is increasing, especially in the healthcare sciences services discipline, which is in the top five fields publishing CA documents. However, there are some limitations regarding the appropriate sample size, quality assessment tool, and external validity of CA. Full article
(This article belongs to the Special Issue Personalized Medicine: The Future of Health Care)
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Review

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Review
Analyzing Precision Medicine Utilization with Real-World Data: A Scoping Review
J. Pers. Med. 2022, 12(4), 557; https://doi.org/10.3390/jpm12040557 - 01 Apr 2022
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Abstract
Precision medicine (PM), specifically genetic-based testing, is currently used in over 140,000 individual tests to inform the clinical management of disease. Though several databases (e.g., the NIH Genetic Testing Registry) demonstrate the availability of these sequencing-based tests, we do not currently understand the [...] Read more.
Precision medicine (PM), specifically genetic-based testing, is currently used in over 140,000 individual tests to inform the clinical management of disease. Though several databases (e.g., the NIH Genetic Testing Registry) demonstrate the availability of these sequencing-based tests, we do not currently understand the extent to which these tests are used. There exists a need to synthesize the body of real-world data (RWD) describing the use of sequencing-based tests to inform their appropriate use. To accomplish this, we performed a scoping review to examine what RWD sources have been used in studies of PM utilization between January 2015 and August 2021 to characterize the use of genome sequencing (GS), exome sequencing (ES), tumor sequencing (TS), next-generation sequencing-based panels (NGS), gene expression profiling (GEP), and pharmacogenomics (PGx) panels. We abstracted variables describing the use of these types of tests and performed a descriptive statistical analysis. We identified 440 articles in our search and included 72 articles in our study. Publications based on registry databases were the most common, followed by studies based on private insurer administrative claims. Slightly more than one-third (38%) used integrated datasets. Two thirds (67%) of the studies focused on the use of tests for oncological clinical applications. We summarize the RWD sources used in peer-reviewed literature on the use of PM. Our findings will help improve future study design by encouraging the use of centralized databases and registries to track the implementation and use of PM. Full article
(This article belongs to the Special Issue Personalized Medicine: The Future of Health Care)
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Review
Profit versus Quality: The Enigma of Scientific Wellness
J. Pers. Med. 2022, 12(1), 34; https://doi.org/10.3390/jpm12010034 - 03 Jan 2022
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Abstract
The “best of both worlds” is not often the case when it comes to implementing new health models, particularly in community settings. It is often a struggle between choosing or balancing between two components: depth of research or financial profit. This has become [...] Read more.
The “best of both worlds” is not often the case when it comes to implementing new health models, particularly in community settings. It is often a struggle between choosing or balancing between two components: depth of research or financial profit. This has become even more apparent with the recent shift to move away from a traditionally reactive model of medicine toward a predictive/preventative one. This has given rise to many new concepts and approaches with a variety of often overlapping aims. The purpose of this perspective is to highlight the pros and cons of the numerous ventures already implementing new concepts, to varying degrees, in community settings of quite differing scales—some successful and some falling short. Scientific wellness is a complex, multifaceted concept that requires integrated experimental/analytical designs that demand both high-quality research/healthcare and significant funding. We currently see the more likely long-term success of those ventures in which any profit is largely reinvested into research efforts and health/healthspan is the primary focus. Full article
(This article belongs to the Special Issue Personalized Medicine: The Future of Health Care)
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