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J. Pers. Med., Volume 9, Issue 3 (September 2019)

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Open AccessPerspective
Perspective: Cellular and Molecular Profiling Technologies in Personalized Oncology
J. Pers. Med. 2019, 9(3), 44; https://doi.org/10.3390/jpm9030044 - 12 Sep 2019
Viewed by 192
Abstract
Cancer is a leading cause of death worldwide and therefore one of the most important public health concerns. In this contribution, we discuss recent key enabling technological innovations (and their challenges), including biomarker-based technologies, that potentially allow for decentralization (e.g., self-monitoring) with the [...] Read more.
Cancer is a leading cause of death worldwide and therefore one of the most important public health concerns. In this contribution, we discuss recent key enabling technological innovations (and their challenges), including biomarker-based technologies, that potentially allow for decentralization (e.g., self-monitoring) with the increasing availability of point-of-care technologies in the near future. These technological innovations are moving the field one step closer toward personalized oncology. Full article
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Open AccessReview
Precision Oncology—The Quest for Evidence
J. Pers. Med. 2019, 9(3), 43; https://doi.org/10.3390/jpm9030043 - 05 Sep 2019
Viewed by 367
Abstract
The molecular characterization of patient tumors provides a rational and highly promising approach for guiding oncologists in treatment decision-making. Notwithstanding, genomic medicine still remains in its infancy, with innovators and early adopters continuing to carry a significant portion of the clinical and financial [...] Read more.
The molecular characterization of patient tumors provides a rational and highly promising approach for guiding oncologists in treatment decision-making. Notwithstanding, genomic medicine still remains in its infancy, with innovators and early adopters continuing to carry a significant portion of the clinical and financial risk. Numerous innovative precision oncology trials have emerged globally to address the associated need for evidence of clinical utility. These studies seek to capitalize on the power of predictive biomarkers and/or treatment decision support analytics, to expeditiously and cost-effectively demonstrate the positive impact of these technologies on drug resistance/response, patient survival, and/or quality of life. Here, we discuss the molecular foundations of these approaches and highlight the diversity of innovative trial strategies that are capitalizing on this emergent knowledge. We conclude that, as increasing volumes of clinico-molecular outcomes data become available, in future, we will begin to transition away from expert systems for treatment decision support (TDS), towards the power of AI-assisted TDS—an evolution that may truly revolutionize the nature and success of cancer patient care. Full article
Open AccessReview
Evidence to Support Inclusion of Pharmacogenetic Biomarkers in Randomised Controlled Trials
J. Pers. Med. 2019, 9(3), 42; https://doi.org/10.3390/jpm9030042 - 01 Sep 2019
Viewed by 398
Abstract
Pharmacogenetics and biomarkers are becoming normalised as important technologies to improve drug efficacy rates, reduce the incidence of adverse drug reactions, and make informed choices for targeted therapies. However, their wider clinical implementation has been limited by a lack of robust evidence. Suitable [...] Read more.
Pharmacogenetics and biomarkers are becoming normalised as important technologies to improve drug efficacy rates, reduce the incidence of adverse drug reactions, and make informed choices for targeted therapies. However, their wider clinical implementation has been limited by a lack of robust evidence. Suitable evidence is required before a biomarker’s clinical use, and also before its use in a clinical trial. We have undertaken a review of five pharmacogenetic biomarker-guided randomised controlled trials (RCTs) and evaluated the evidence used by these trials to justify biomarker inclusion. We assessed and quantified the evidence cited in published rationale papers, or where these were not available, obtained protocols from trial authors. Very different levels of evidence were provided by the trials. We used these observations to write recommendations for future justifications of biomarker use in RCTs and encourage regulatory authorities to write clear guidelines. Full article
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Open AccessCase Report
Case of Early-Onset Parkinson’s Disease in a Heterozygous Mutation Carrier of the ATP7B Gene
J. Pers. Med. 2019, 9(3), 41; https://doi.org/10.3390/jpm9030041 - 17 Aug 2019
Viewed by 566
Abstract
In this paper, we report a clinically proven case of Parkinson’s disease (PD) with early onset in a patient who is a heterozygous mutation carrier of ATP7B (the Wilson’s disease gene). The patient was observed from 2011 to 2018 in the Center for [...] Read more.
In this paper, we report a clinically proven case of Parkinson’s disease (PD) with early onset in a patient who is a heterozygous mutation carrier of ATP7B (the Wilson’s disease gene). The patient was observed from 2011 to 2018 in the Center for Neurodegenerative Diseases, Institute of Experimental Medicine (St. Petersburg, Russia). During this period, the patient displayed aggravation of PD clinical symptoms that were accompanied by a decrease in the ceruloplasmin concentration (from 0.33 to 0.27 g/L) and an increase in serum nonceruloplasmin copper, which are typical of the late stages of Wilson’s disease. It was found that one of the alleles of exon 14 in the ATP7B gene, which partially codes of the nucleotide-binding domain (N-domain), carries a mutation not previously reported corresponding to Cys1079Gly substitution. Alignment of the ATP7B N-domain amino acid sequences of representative vertebrate species has shown that the Cys at 1079 position is conserved throughout the evolution. Molecular dynamic analysis of a polypeptide with Cys1079Gly substitution showed that the mutation causes profound conformational changes in the N-domain, which could potentially lead to impairment of its functions. The role of ATP7B gene mutations in PD development is discussed. Full article
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Open AccessReview
Pharmacogenomic Testing: Clinical Evidence and Implementation Challenges
J. Pers. Med. 2019, 9(3), 40; https://doi.org/10.3390/jpm9030040 - 07 Aug 2019
Viewed by 998
Abstract
Pharmacogenomics can enhance patient care by enabling treatments tailored to genetic make-up and lowering risk of serious adverse events. As of June 2019, there are 132 pharmacogenomic dosing guidelines for 99 drugs and pharmacogenomic information is included in 309 medication labels. Recently, the [...] Read more.
Pharmacogenomics can enhance patient care by enabling treatments tailored to genetic make-up and lowering risk of serious adverse events. As of June 2019, there are 132 pharmacogenomic dosing guidelines for 99 drugs and pharmacogenomic information is included in 309 medication labels. Recently, the technology for identifying individual-specific genetic variants (genotyping) has become more accessible. Next generation sequencing (NGS) is a cost-effective option for genotyping patients at many pharmacogenomic loci simultaneously, and guidelines for implementation of these data are available from organizations such as the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the Dutch Pharmacogenetics Working Group (DPWG). NGS and related technologies are increasing knowledge in the research sphere, yet rates of genomic literacy remain low, resulting in a widening gap in knowledge translation to the patient. Multidisciplinary teams—including physicians, nurses, genetic counsellors, and pharmacists—will need to combine their expertise to deliver optimal pharmacogenomically-informed care. Full article
Open AccessEditorial
Omics Meeting Onics: Towards the Next Generation of Spectroscopic-Based Technologies in Personalized Medicine
J. Pers. Med. 2019, 9(3), 39; https://doi.org/10.3390/jpm9030039 - 01 Aug 2019
Cited by 1 | Viewed by 779
Abstract
This article aims to discuss the recent development of integrated point-of-care spectroscopic-based technologies that are paving the way for the next generation of diagnostic monitoring technologies in personalized medicine. Focusing on the nuclear magnetic resonance (NMR) technologies as the leading example, we discuss [...] Read more.
This article aims to discuss the recent development of integrated point-of-care spectroscopic-based technologies that are paving the way for the next generation of diagnostic monitoring technologies in personalized medicine. Focusing on the nuclear magnetic resonance (NMR) technologies as the leading example, we discuss the emergence of -onics technologies (e.g., photonics and electronics) and how their coexistence with -omics technologies (e.g., genomics, proteomics, and metabolomics) can potentially change the future technological landscape of personalized medicine. The idea of an open-source (e.g., hardware and software) movement is discussed, and we argue that technology democratization will not only promote the dissemination of knowledge and inspire new applications, but it will also increase the speed of field implementation. Full article
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Open AccessArticle
Evaluating the Potential of Younger Cases and Older Controls Cohorts to Improve Discovery Power in Genome-Wide Association Studies of Late-Onset Diseases
J. Pers. Med. 2019, 9(3), 38; https://doi.org/10.3390/jpm9030038 - 22 Jul 2019
Viewed by 964
Abstract
For more than a decade, genome-wide association studies have been making steady progress in discovering the causal gene variants that contribute to late-onset human diseases. Polygenic late-onset diseases in an aging population display a risk allele frequency decrease at older ages, caused by [...] Read more.
For more than a decade, genome-wide association studies have been making steady progress in discovering the causal gene variants that contribute to late-onset human diseases. Polygenic late-onset diseases in an aging population display a risk allele frequency decrease at older ages, caused by individuals with higher polygenic risk scores becoming ill proportionately earlier and bringing about a change in the distribution of risk alleles between new cases and the as-yet-unaffected population. This phenomenon is most prominent for diseases characterized by high cumulative incidence and high heritability, examples of which include Alzheimer’s disease, coronary artery disease, cerebral stroke, and type 2 diabetes, while for late-onset diseases with relatively lower prevalence and heritability, exemplified by cancers, the effect is significantly lower. In this research, computer simulations have demonstrated that genome-wide association studies of late-onset polygenic diseases showing high cumulative incidence together with high initial heritability will benefit from using the youngest possible age-matched cohorts. Moreover, rather than using age-matched cohorts, study cohorts combining the youngest possible cases with the oldest possible controls may significantly improve the discovery power of genome-wide association studies. Full article
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Open AccessReview
Clinical Applications of Circulating Tumour DNA in Pancreatic Adenocarcinoma
J. Pers. Med. 2019, 9(3), 37; https://doi.org/10.3390/jpm9030037 - 18 Jul 2019
Viewed by 987
Abstract
Pancreatic adenocarcinoma remains one of the most aggressive cancers with an ongoing dismal survival rate despite some recent advances in treatment options. This is largely due to the typically late presentation and limited effective therapeutic options in advanced disease. There are numerous circulating [...] Read more.
Pancreatic adenocarcinoma remains one of the most aggressive cancers with an ongoing dismal survival rate despite some recent advances in treatment options. This is largely due to the typically late presentation and limited effective therapeutic options in advanced disease. There are numerous circulating biomarkers that have potential clinical application as tumour markers, including circulating tumour DNA (ctDNA), circulating tumour cells (CTCs), cell-free RNA (cfRNA), exosomes and circulating tumour proteins. This review will focus on the development of ctDNA as a non-invasive liquid biopsy, with its high sensitivity and specificity having potential clinical applications in pancreatic cancer. These include a role in screening, prognostication via the detection of minimal residual disease, early detection of recurrence, and for patients with advanced disease; tumour genotyping and monitoring treatment response. Prospective randomised adjuvant clinical trials are currently underway, exploring the impact of ctDNA-guided adjuvant therapy decisions. In this review, we provide perspectives on the current literature and considerations of future directions. Full article
(This article belongs to the Special Issue Biomarkers and Personalized Therapies in Pancreatic Cancer)
Open AccessArticle
Determination of Risk Factors for Venous Thromboembolism by an Adapted Caprini Scoring System in Surgical Patients
J. Pers. Med. 2019, 9(3), 36; https://doi.org/10.3390/jpm9030036 - 17 Jul 2019
Viewed by 953
Abstract
Venous thromboembolism (VTE) is a frequent preventable complication among surgical patients. Precise risk assessment is a necessary step for providing appropriate thromboprophylaxis and reducing mortality as well as morbidity caused by VTE. We carried out this work to define the rate of VTE [...] Read more.
Venous thromboembolism (VTE) is a frequent preventable complication among surgical patients. Precise risk assessment is a necessary step for providing appropriate thromboprophylaxis and reducing mortality as well as morbidity caused by VTE. We carried out this work to define the rate of VTE postoperatively, following a Caprini score, and to determine VTE risk factors through a modified Caprini risk scoring system. This multicenter, observational, cohort study involved 2,790,027 patients who underwent surgery in four Vietnamese hospitals from 01/2017 to 12/2018. All patients who were evaluated before surgery by using a Caprini risk assessment model (RAM) and monitored within 90 days after surgery. The endpoint of the study was ultrasound-confirmed VTE. Our data showed that the 90-day postoperative VTE was found in 3068 patients. Most of VTE (46.97%) cases were found in the highest risk group (Caprini score > 5). A total of 37.19% were observed in the high risk group, while the rest (15.84%) were from low to moderate risk groups. The likelihood of occurring VTE was heightened 2.83 times for patients with a Caprini score of 3–4, 4.83 times for a Caprini score of 5–6, 8.84 times for a score of 7–8, and 11.42 times for a score of >8, comparing to ones with a score of 0 to 2 (all p values < 0.05). Thus, the frequency of postoperative VTE rises substantially, according to the advanced Caprini score. Further categorizing patients among the highest risk group need delivering more appropriate thromboprophylaxis. Full article
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Open AccessReview
Blockchains for Secure Digitized Medicine
J. Pers. Med. 2019, 9(3), 35; https://doi.org/10.3390/jpm9030035 - 13 Jul 2019
Viewed by 1281
Abstract
Blockchain as an emerging technology has been gaining in popularity, with more possible applications to utilize the technology in the near future. With the offer of a decentralized, distributed environment without the need for a third trusted party (TTP), blockchains are being used [...] Read more.
Blockchain as an emerging technology has been gaining in popularity, with more possible applications to utilize the technology in the near future. With the offer of a decentralized, distributed environment without the need for a third trusted party (TTP), blockchains are being used to solve issues in systems that are susceptible to cyberattacks. One possible field that could benefit from blockchains that researchers have been focusing on is healthcare. Current healthcare information systems face several challenges, such as fragmented patient data, centralized systems which are viewed as single points of attacks, and the lack of patient-oriented services. In this paper, we investigate and analyze recent literature related to the use of blockchains to tackle issues found in modern healthcare information systems. This is done to understand issues that researchers commonly focus on, to discover remaining areas of concern in any proposed solution, and to understand the possible directions of the integration of blockchains in healthcare and personalized medicine. Background information regarding blockchains and existing healthcare information systems is reviewed, followed by the methodology used in the preparation of this review, where the research questions to consider are stated. Afterwards, an analysis of the results is provided, concluding with a discussion of the remaining issues that need to be focused on, and how blockchains could benefit the healthcare sector and empower personalized medicine. Full article
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Open AccessCase Report
Adaptive, Iterative, Long-Term Personalized Therapy Management in a Case of Stage IV Refractory NSCLC
J. Pers. Med. 2019, 9(3), 34; https://doi.org/10.3390/jpm9030034 - 05 Jul 2019
Cited by 1 | Viewed by 1220
Abstract
In this paper we report long-term therapy management based on iterative de novo molecular and cellular analysis in a case of metastatic non-small cell lung cancer (NSCLC), with prior history of treated colorectal cancer. In the described case temporal tumor evolution, emergent therapy [...] Read more.
In this paper we report long-term therapy management based on iterative de novo molecular and cellular analysis in a case of metastatic non-small cell lung cancer (NSCLC), with prior history of treated colorectal cancer. In the described case temporal tumor evolution, emergent therapy resistance and disease recurrences were addressed via the administration of personalized label- and organ-agnostic treatments based on de novo tumor profiling. This adaptive and iterative treatment strategy countered disease progression at each instance and led to the durable regression of primary as well as metastatic lesions. Concurrently, serial evaluation of mutations in cell-free circulating tumor DNA (ctDNA) via liquid biopsy (LBx) was performed to monitor disease status, ascertain treatment response, identify emergent drug resistance and detect recurrence at sub-radiological levels. The treatment management strategy described herein effectively addressed multiple, sequential clinical conundrums for which viable options were unavailable under the current Standard of Care (SoC). Full article
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Open AccessArticle
Access to Genetic Counselors in the Southern United States
J. Pers. Med. 2019, 9(3), 33; https://doi.org/10.3390/jpm9030033 - 01 Jul 2019
Viewed by 1066
Abstract
The expansion of genetic and genomic testing across medical specialties and the changing workforce demographics of certified genetic counselors (CGCs) have led to concerns of a workforce shortage. We assessed the number of genetic counselors working in the Southern United States—a rural and [...] Read more.
The expansion of genetic and genomic testing across medical specialties and the changing workforce demographics of certified genetic counselors (CGCs) have led to concerns of a workforce shortage. We assessed the number of genetic counselors working in the Southern United States—a rural and medically underserved region—using various online and professional resources. We identified 683 practicing genetic counselors across the Southern U.S. and 160 specializing in prenatal genetics. CGCs were concentrated in urban areas; counties with a CGC had a significantly higher proportion of minority residents and median household income than counties without a CGC. There is an average of 2.97 prenatal CGCs per 5000 high-risk births in the South. Alternative delivery models are needed to increase access to counseling services in the Southern U.S., particularly for low income households and those of high risk pregnancies. Increased provider education and patient educational materials can help facilitate informed decision-making in prenatal settings as genetic technologies gain a stronger foothold and bring value to medical practice. Full article
(This article belongs to the Special Issue Genomic Medicine and Policy)
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Open AccessReview
Barriers and Facilitators to Genetic Testing for Familial Hypercholesterolemia in the United States: A Review
J. Pers. Med. 2019, 9(3), 32; https://doi.org/10.3390/jpm9030032 - 01 Jul 2019
Viewed by 1155
Abstract
Familial Hypercholesterolemia (FH) is an underdiagnosed condition in the United States (US) and globally, affecting an estimated 1/250 individuals. It is a genetic risk factor for premature cardiovascular disease and is responsible for an estimated 600,000 to 1.2 million preventable vascular events. Studies [...] Read more.
Familial Hypercholesterolemia (FH) is an underdiagnosed condition in the United States (US) and globally, affecting an estimated 1/250 individuals. It is a genetic risk factor for premature cardiovascular disease and is responsible for an estimated 600,000 to 1.2 million preventable vascular events. Studies show that FH genetic testing can identify a causal gene variant in 60 to 80% of clinically suspected FH cases. However, FH genetic testing is currently underutilized in clinical settings in the US despite clinical recommendations and evidence supporting its use. Reasons for underutilization are not well understood. We conducted a literature review in the PubMed/MEDLINE database and eight peer-reviewed journals. After filtering for and reviewing 2340 articles against our inclusion criteria, we included nine commentaries or expert opinions and eight empirical studies reported between January 2014 and March 2019 in our review. After applying the Consolidated Framework for Implementation Research (CFIR), we identified a total of 26 potential barriers and 15 potential facilitators (estimated barrier to facilitator ratio of 1.73). We further estimated ratios of potential barriers to facilitators for each CFIR domain (Characteristics of Intervention, Outer Setting, Inner Setting, Characteristics of Individuals, and Process). Findings derived from our systematic approach to the literature and calculations of estimated baseline ratios of barriers and facilitators can guide future research to understand FH genetic testing implementation in diverse clinical settings. Our systematic approach to the CFIR could also be used as a model to understand or compare barriers and facilitators to other evidence-based genetic testing processes in health care settings in the US and abroad. Full article
(This article belongs to the Special Issue Genomic Medicine and Policy)
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