Research

16 pages, 619 KiB

Open AccessArticle

Patient Perspectives of Barriers and Facilitators for the Uptake of Pharmacogenomic Testing in Veterans Affairs’ Pharmacogenomic Testing for the Veterans (PHASER) Program

by Karina Melendez, Diana Gutierrez-Meza, Kara L. Gavin, Esra Alagoz, Nina Sperber, Rebekah Ryanne Wu, Abigail Silva, Bhabna Pati, Deepak Voora, Allison Hung, Megan C. Roberts and Corrine I. Voils

J. Pers. Med. 2023, 13(9), 1367; https://doi.org/10.3390/jpm13091367 - 09 Sep 2023

Viewed by 1031

Abstract

We applied implementation science frameworks to identify barriers and facilitators to veterans’ acceptance of pharmacogenomic testing (PGx), which was made available as a part of clinical care at 25 VA medical centers. We conducted 30 min interviews with veterans who accepted (n [...] Read more.

We applied implementation science frameworks to identify barriers and facilitators to veterans’ acceptance of pharmacogenomic testing (PGx), which was made available as a part of clinical care at 25 VA medical centers. We conducted 30 min interviews with veterans who accepted (n = 14), declined (n = 9), or were contemplating (n = 8) PGx testing. Six team members coded one transcript from each participant group to develop the codebook and finalize definitions. Three team members coded the remaining 28 transcripts and met regularly with the larger team to reach a consensus. The coders generated a matrix of implementation constructs by testing status to identify the similarities and differences between accepters, decliners, and contemplators. All groups understood the PGx testing procedures and possible benefits. In the decision-making, accepters prioritized the potential health benefits of PGx testing, such as reducing side effects or the number of medications. In contrast, decliners prioritized the possibilities of data breach or the negative impact on healthcare insurance or Veterans Affairs benefits. Contemplators desired to speak to a provider to learn more before making a decision. Efforts to improve the clarity of data security and the impact on benefits may improve veterans’ abilities to make more informed decisions about whether to undergo PGx testing. Full article

(This article belongs to the Special Issue Personalized Medicine: The Future of Health Care)

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14 pages, 1776 KiB

Open AccessArticle

Are Graduate Medical Trainees Prepared for the Personalized Genomic Medicine Revolution? Trainee Perspectives at One Institution

by Elizabeth L. Kudron, Kimberly M. Deininger and Christina L. Aquilante

J. Pers. Med. 2023, 13(7), 1025; https://doi.org/10.3390/jpm13071025 - 21 Jun 2023

Viewed by 790

Abstract

Although the use of genomics to inform clinical care is increasing, clinicians feel underprepared to integrate personalized medicine (PM) into care decisions. The educational needs of physician residents and fellows, also known as graduate medical trainees (GMTs), have been overlooked. We administered an [...] Read more.

Although the use of genomics to inform clinical care is increasing, clinicians feel underprepared to integrate personalized medicine (PM) into care decisions. The educational needs of physician residents and fellows, also known as graduate medical trainees (GMTs), have been overlooked. We administered an anonymous, web-based survey to all GMTs participating in training programs affiliated with our institution to evaluate their knowledge, skills, and attitudes toward PM. Of the 1190 GMTs contacted, 319 (26.8%) returned surveys. Most (88.4%) respondents reported receiving PM education in the past. Although the respondents agreed that knowledge of disease genetics (80.9%) or pharmacogenetics (87.1%) would likely lead to improved clinical outcomes, only 33.2% of the respondents felt sufficiently informed about PM. The respondents who had received PM education in residency and/or fellowship had significantly higher self-reported knowledge, ability, awareness, and adoption of PM than those who had not received this education (p < 0.0001, p < 0.0001, p < 0.0001, and p < 0.01, respectively). Targeted training is needed to improve GMTs’ confidence in interpreting and explaining genetic test results. The ideal timing for this education appears to be in residency and/or fellowship rather than in medical school. Full article

(This article belongs to the Special Issue Personalized Medicine: The Future of Health Care)

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9 pages, 937 KiB

Open AccessArticle

Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline

by Makenzie Beaman, Kimberley Fisher, Marie McDonald, Queenie K. G. Tan, David Jackson, Benjamin T. Cocanougher, Andrew P. Landstrom, Charlotte A. Hobbs, Michael Cotten and Jennifer L. Cohen

J. Pers. Med. 2022, 12(11), 1924; https://doi.org/10.3390/jpm12111924 - 18 Nov 2022

Cited by 3 | Viewed by 2196

Abstract

Rapid genome sequencing in critically ill infants is increasingly identified as a crucial test for providing targeted and informed patient care. We report the outcomes of a pilot study wherein eight critically ill neonates received rapid whole genome sequencing with parental samples in [...] Read more.

Rapid genome sequencing in critically ill infants is increasingly identified as a crucial test for providing targeted and informed patient care. We report the outcomes of a pilot study wherein eight critically ill neonates received rapid whole genome sequencing with parental samples in an effort to establish a prompt diagnosis. Our pilot study resulted in a 37.5% diagnostic rate by whole genome sequencing alone and an overall 50% diagnostic rate for the cohort. We describe how the diagnoses led to identification of additional affected relatives and a change in management, the limitations of rapid genome sequencing, and some of the challenges with sample collection. Alongside this pilot study, our site simultaneously established a research protocol pipeline that will allow us to conduct research-based genomic testing in the cases for which a diagnosis was not reached by rapid genome sequencing or other available clinical testing. Here we describe the benefits, limitations, challenges, and potential for rapid whole genome sequencing to be incorporated into routine clinical evaluation in the neonatal period. Full article

(This article belongs to the Special Issue Personalized Medicine: The Future of Health Care)

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8 pages, 356 KiB

Open AccessArticle

Building Capacity for Implementation Science in Precision Health and Society: Development of a Course for Professional and Graduate Students in Pharmacy

by Megan C. Roberts and Jacqueline E. McLaughlin

J. Pers. Med. 2022, 12(9), 1499; https://doi.org/10.3390/jpm12091499 - 13 Sep 2022

Viewed by 1100

Abstract

Training in the field of implementation science is critical for future pharmacists and pharmaceutical scientists to successfully implement precision health interventions in pharmacy practice. We developed an elective course for second- and third-year students at the UNC Eshelman School of Pharmacy to develop [...] Read more.

Training in the field of implementation science is critical for future pharmacists and pharmaceutical scientists to successfully implement precision health interventions in pharmacy practice. We developed an elective course for second- and third-year students at the UNC Eshelman School of Pharmacy to develop foundational knowledge in implementation science with a focus on precision health implementation. The eight-week course used a flipped classroom format featuring lecture videos, suggested readings, quizzes, guest lectures from experts, case studies, and a group project. We evaluated course quality through class participation, a pre- and post-test on course content, and a mixed-methods survey completed by the students. Overall engagement in in the course was high and students demonstrated significant improvement in understanding of implementation science and precision health. Strengths of the course as identified by students were the use of expert guest speakers, pre-class lectures, and case study exercises, while the ordering of content and improved connection between content and guest lectures were identified as areas for improvement. In conclusion, the elective course was well-received and meets a critical need in the field of pharmacy to build implementation science capacity. Future work is needed to expand and refine education for the implementation of precision health for pharmacy professionals. Full article

(This article belongs to the Special Issue Personalized Medicine: The Future of Health Care)

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9 pages, 254 KiB

Open AccessArticle

A Mixed-Methods Protocol to Identify Best Practices for Implementing Pharmacogenetic Testing in Clinical Settings

by Nina R. Sperber, Deborah Cragun, Megan C. Roberts, Lisa M. Bendz, Parker Ince, Sarah Gonzales, Susanne B. Haga, R. Ryanne Wu, Natasha J. Petry, Laura Ramsey and Ryley Uber

J. Pers. Med. 2022, 12(8), 1313; https://doi.org/10.3390/jpm12081313 - 13 Aug 2022

Viewed by 2188

Abstract

Using a patient’s genetic information to inform medication prescriptions can be clinically effective; however, the practice has not been widely implemented. Health systems need guidance on how to engage with providers to improve pharmacogenetic test utilization. Approaches from the field of implementation science [...] Read more.

Using a patient’s genetic information to inform medication prescriptions can be clinically effective; however, the practice has not been widely implemented. Health systems need guidance on how to engage with providers to improve pharmacogenetic test utilization. Approaches from the field of implementation science may shed light on the complex factors affecting pharmacogenetic test use in real-world settings and areas to target to improve utilization. This paper presents an approach to studying the application of precision medicine that utilizes mixed qualitative and quantitative methods and implementation science frameworks to understand which factors or combinations consistently account for high versus low utilization of pharmocogenetic testing. This approach involves two phases: (1) collection of qualitative and quantitative data from providers—the cases—at four clinical institutions about their experiences with, and utilization of, pharmacogenetic testing to identify salient factors; and (2) analysis using a Configurational Comparative Method (CCM), using a mathematical algorithm to identify the minimally necessary and sufficient factors that distinguish providers who have higher utilization from those with low utilization. Advantages of this approach are that it can be used for small to moderate sample sizes, and it accounts for conditions found in real-world settings by demonstrating how they coincide to affect utilization. Full article

(This article belongs to the Special Issue Personalized Medicine: The Future of Health Care)

13 pages, 1195 KiB

Open AccessArticle

Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy

by Leonie M. Kurzlechner, Edward G. Jones, Amy M. Berkman, Hanna J. Tadros, Jill A. Rosenfeld, Yaping Yang, Hari Tunuguntla, Hugh D. Allen, Jeffrey J. Kim and Andrew P. Landstrom

J. Pers. Med. 2022, 12(5), 733; https://doi.org/10.3390/jpm12050733 - 30 Apr 2022

Cited by 1 | Viewed by 1904

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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13 pages, 1174 KiB

Open AccessArticle

Collaborative Approach to Reach Everyone with Familial Hypercholesterolemia: CARE-FH Protocol

by Laney K. Jones, Marc S. Williams, Ilene G. Ladd, Dylan Cawley, Shuping Ge, Jing Hao, Dina Hassen, Yirui Hu, H. Lester Kirchner, Maria Kobylinski, Michael G. Lesko, Matthew C. Nelson, Alanna K. Rahm, David D. Rolston, Katrina M. Romagnoli, Tyler J. Schubert, Timothy C. Shuey, Amy C. Sturm and Samuel S. Gidding

J. Pers. Med. 2022, 12(4), 606; https://doi.org/10.3390/jpm12040606 - 09 Apr 2022

Cited by 6 | Viewed by 1915

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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14 pages, 1448 KiB

Open AccessArticle

Conjoint Analysis: A Research Method to Study Patients’ Preferences and Personalize Care

by Basem Al-Omari, Joviana Farhat and Mai Ershaid

J. Pers. Med. 2022, 12(2), 274; https://doi.org/10.3390/jpm12020274 - 13 Feb 2022

Cited by 10 | Viewed by 4001

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

Jump to: Research, Other

10 pages, 443 KiB

Open AccessReview

Analyzing Precision Medicine Utilization with Real-World Data: A Scoping Review

by Michael P. Douglas and Anika Kumar

J. Pers. Med. 2022, 12(4), 557; https://doi.org/10.3390/jpm12040557 - 01 Apr 2022

Cited by 3 | Viewed by 3012

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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11 pages, 778 KiB

Open AccessReview

Profit versus Quality: The Enigma of Scientific Wellness

by Katrina Carbonara, Adam J. MacNeil, Deborah D. O’Leary and Jens R. Coorssen

J. Pers. Med. 2022, 12(1), 34; https://doi.org/10.3390/jpm12010034 - 03 Jan 2022

Cited by 1 | Viewed by 1864

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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Other

Jump to: Research, Review

8 pages, 253 KiB

Open AccessViewpoint

Expanding Family Health History to Include Family Medication History

by Susanne B. Haga and Lori A. Orlando

J. Pers. Med. 2023, 13(3), 410; https://doi.org/10.3390/jpm13030410 - 25 Feb 2023

Viewed by 1509

Abstract

The collection of family health history (FHH) is an essential component of clinical practice and an important piece of data for patient risk assessment. However, family history data have generally been limited to diseases and have not included medication history. Family history was [...] Read more.

The collection of family health history (FHH) is an essential component of clinical practice and an important piece of data for patient risk assessment. However, family history data have generally been limited to diseases and have not included medication history. Family history was a key component of early pharmacogenetic research, confirming the role of genes in drug response. With the substantial number of known pharmacogenes, many affecting response to commonly prescribed medications, and the availability of clinical pharmacogenetic (PGx) tests and guidelines for interpretation, the collection of family medication history can inform testing decisions. This paper explores the roots of family-based pharmacogenetic studies to confirm the role of genes in these complex phenotypes and the benefits and challenges of collecting family medication history as part of family health history intake. Full article

(This article belongs to the Special Issue Personalized Medicine: The Future of Health Care)

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