Special Issue "Precision Medicine in Clinical Practice"

A special issue of Journal of Personalized Medicine (ISSN 2075-4426).

Deadline for manuscript submissions: 10 December 2022 | Viewed by 17500

Special Issue Editors

Dr. Christine Lu
E-Mail Website
Guest Editor
Department of Population Medicine, Harvard Medical School and Harvard Pilgrim Health Care Institute, Boston, MA, USA
Interests: clinical implementation of precision medicine; clinical and economic outcomes related to the use of precision medicine, including the impact of value-based contracts; policy, legal, ethical, economic, and societal issues of precision medicine in clinical practice, including disparities in access to precision medicine and outcomes, and ethical implications
Special Issues, Collections and Topics in MDPI journals
Prof. Adam Buchanan
E-Mail Website
Guest Editor
Associate Professor and Director of Geisinger Genomic Medicine Institute, Danville, PA, USA
Interests: clinical outcomes of genomic screening; interventions to improve risk management for inherited disease risk; access to genomic medicine

Special Issue Information

Dear Colleagues,

Precision medicine is a dynamic area embracing diverse approaches that allow the targeting of new medicines, screening programs or preventive healthcare strategies, including the use of genomic technologies, also potentially taking account of patient preferences. Health insurance plans are increasingly considering different precision medicine interventions for coverage and reimbursement. Precision medicine interventions are also being integrated into clinical care for a range of medical conditions and purposes. The Journal of Personalized Medicine aims to publish a collection of articles that explore challenges and opportunities in the field and fresh insights to ongoing discussions and debate in precision medicine from the US and abroad. We will consider original research, systematic reviews, and well-designed case studies and analyses that report empirical work presenting experiences and perspectives about integrating precision medicine in clinical practice.

Dr. Christine Lu
Prof. Adam Buchanan
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. 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

  • Access
  • Affordability
  • Sustainability
  • Healthcare system
  • Pharmacogenomics
  • Genomics
  • Polygenic risk scores
  • Genome and exome sequencing
  • Genome screening

Published Papers (15 papers)

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Research

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Article
A Survey of Research Participants’ Privacy-Related Experiences and Willingness to Share Real-World Data with Researchers
J. Pers. Med. 2022, 12(11), 1922; https://doi.org/10.3390/jpm12111922 - 17 Nov 2022
Viewed by 337
Abstract
Background: Real-world data (RWD) privacy is an increasingly complex topic within the scope of personalized medicine, as it implicates several sources of data. Objective: To assess how privacy-related experiences, when adjusted for age and education level, may shape adult research participants’ willingness to [...] Read more.
Background: Real-world data (RWD) privacy is an increasingly complex topic within the scope of personalized medicine, as it implicates several sources of data. Objective: To assess how privacy-related experiences, when adjusted for age and education level, may shape adult research participants’ willingness to share various sources of real-world data with researchers. Methods: An electronic survey was conducted in April 2021 among adults (≥18 years of age) registered in ResearchMatch, a national health research registry. Descriptive analyses were conducted to assess survey participant demographics. Logistic regression was conducted to assess the association between participants’ five distinct privacy-related experiences and their willingness to share each of the 19 data sources with researchers, adjusting for education level and age range. Results: A total of 598 ResearchMatch adults were contacted and 402 completed the survey. Most respondents were over the age of 51 years (49% total) and held a master’s or bachelor’s degree (63% total). Over half of participants (54%) had their account accessed by someone without their permission. Almost half of participants (49%) reported the privacy of their personal information being violated. Analyses showed that, when adjusted for age range and education level, participants whose reputations were negatively affected as a result of information posted online were more likely to share electronic medical record data (OR = 2.074, 95% CI: 0.986–4.364) and genetic data (OR = 2.302, 95% CI: 0.894–5.93) versus those without this experience. Among participants who had an unpleasant experience as a result of giving out information online, those with some college/associates/trade school compared to those with a doctoral or other terminal degree were significantly more willing to share genetic data (OR = 1.064, 95% CI: 0.396–2.857). Across all privacy-related experiences, participants aged 18 to 30 were significantly more likely than those over 60 years to share music streaming data, ridesharing history data, and voting history data. Additionally, across all privacy-related experiences, those with a high school education were significantly more likely than those with a doctorate or other terminal degree to share credit card statement data. Conclusions: This study offers the first insights into how privacy-related experiences, adjusted for age range and education level, may shape ResearchMatch participants’ willingness to share several sources of real-world data sources with precision medicine researchers. Future work should further explore these insights. Full article
(This article belongs to the Special Issue Precision Medicine in Clinical Practice)
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Article
Understanding the Patient Experience of Receiving Clinically Actionable Genetic Results from the MyCode Community Health Initiative, a Population-Based Genomic Screening Initiative
J. Pers. Med. 2022, 12(9), 1511; https://doi.org/10.3390/jpm12091511 - 15 Sep 2022
Cited by 1 | Viewed by 546
Abstract
Understanding unselected individuals’ experiences receiving genetic results through population genomic screening is critical to advancing clinical utility and improving population health. We conducted qualitative interviews with individuals who received clinically actionable genetic results via the MyCode© Genomic Screening and Counseling program. We purposively [...] Read more.
Understanding unselected individuals’ experiences receiving genetic results through population genomic screening is critical to advancing clinical utility and improving population health. We conducted qualitative interviews with individuals who received clinically actionable genetic results via the MyCode© Genomic Screening and Counseling program. We purposively sampled cohorts to seek diversity in result-related disease risk (e.g., cancer or cardiovascular) and in personal or family history of related diseases. Transcripts were analyzed using a two-step inductive coding process of broad thematic analysis followed by in-depth coding of each theme. Four thematic domains identified across all cohorts were examined: process assessment, psychosocial response, behavioral change due to the genetic result, and family communication. Coding of 63 interviews among 60 participants revealed that participants were satisfied with the results disclosure process, initially experienced a range of positive, neutral, and negative psychological reactions to results, adjusted positively to results over time, undertook clinically indicated actions in response to results, and communicated results with relatives to whom they felt emotionally close. Our findings of generally favorable responses to receiving clinically actionable genetic results via a genomic screening program may assuage fear of patient distress in such programs and guide additional biobanks, genomic screening programs, and research studies. Full article
(This article belongs to the Special Issue Precision Medicine in Clinical Practice)
Article
Clinical Pharmacists’ Knowledge of and Attitudes toward Pharmacogenomic Testing in China
J. Pers. Med. 2022, 12(8), 1348; https://doi.org/10.3390/jpm12081348 - 21 Aug 2022
Viewed by 629
Abstract
(1) Background: Uptake of pharmacogenomic testing in routine clinical practices is currently slow in China. Pharmacists might play an important role in leveraging care through applying pharmacogenomics, therefore, it is important to better understand clinical pharmacists’ knowledge of and attitudes toward pharmacogenomic testing, [...] Read more.
(1) Background: Uptake of pharmacogenomic testing in routine clinical practices is currently slow in China. Pharmacists might play an important role in leveraging care through applying pharmacogenomics, therefore, it is important to better understand clinical pharmacists’ knowledge of and attitudes toward pharmacogenomic testing, which has not been well-studied. (2) Methods: A self-administered survey was developed based on previous knowledge of pharmacogenomic testing and its uptake in China. Participants were recruited through the Committee of Pharmaceutical Affairs Management under the Chinese Hospital Association. (3) Results: A total of 1005 clinical pharmacists completed the questionnaire, among whom 996 (99.10%) had heard of pharmacogenomic testing before participation. More than half of respondents (60.0%, n = 597) rated their knowledge of pharmacogenomic testing as “average”, while 25% rated it “good” or “excellent”. “Guidelines, consensus and treatment paths for disease diagnosis and treatment” (78.7%) were the most preferred sources of information about pharmacogenomic testing. Most respondents (77.0%) believed that pharmacogenomics could “help to improve efficacy and reduce the incidence of adverse reactions”. Our participants also believed that patients would benefit most from pharmacogenomic testing through better prediction of individual drug responses and thus informed treatment decisions. The top challenge for the uptake of pharmacogenomic testing was its high cost or lack of insurance coverage (76.7%). (4) Conclusions: Most Chinese clinical pharmacists who participated in our study had a positive attitude toward pharmacogenomic testing, while the knowledge of pharmacogenomic testing was generally self-assessed as average. Full article
(This article belongs to the Special Issue Precision Medicine in Clinical Practice)
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Article
Clinical Pharmacists’ Involvement in Pharmacogenomics Testing and Related Services in China
J. Pers. Med. 2022, 12(8), 1267; https://doi.org/10.3390/jpm12081267 - 31 Jul 2022
Cited by 1 | Viewed by 694
Abstract
Background: Pharmacogenomics (PGx) testing is increasingly used in clinical practice to optimize drug therapies. This study aims to understand the involvement of clinical pharmacists in PGx testing at tertiary hospitals in China and their self-assessed capacity to deliver such services. Methods: We developed [...] Read more.
Background: Pharmacogenomics (PGx) testing is increasingly used in clinical practice to optimize drug therapies. This study aims to understand the involvement of clinical pharmacists in PGx testing at tertiary hospitals in China and their self-assessed capacity to deliver such services. Methods: We developed a questionnaire exploring clinical pharmacists’ involvement and self-assessed level of capacity of performing PGx tests. A random sample was obtained from the Pharmaceutical Affairs Management Professional Committee of the Chinese Hospital Association. Results: A total of 1005 clinical pharmacists completed the survey. Of these, 996 (99.1%) had heard of PGx tests and 588 (59.0%) had been involved in PGx testing and related services. Some clinical pharmacists (28.9%) provided PGx services at the rate of “1–5 cases/year” while 21.9% of clinical pharmacists provided PGx services at the rate of “>30 cases/year”. Clinical pharmacists most frequently provided PGx testing for cardiovascular diseases. “Consult relevant guidelines/literature” (90.1%) was the most frequently used method to familiarize oneself with PGx testing. About 60% of the pharmacists considered themselves to have poor or fair capacity to provide PGx testing and related services. Conclusions: More than half of the pharmacists had been involved in PGx testing and related services. However, pharmacists generally had little confidence in their knowledge level of and capacity to provide PGx-related services. Full article
(This article belongs to the Special Issue Precision Medicine in Clinical Practice)
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Article
Association between Health Insurance Type and Genetic Testing and/or Counseling for Breast and Ovarian Cancer
J. Pers. Med. 2022, 12(8), 1263; https://doi.org/10.3390/jpm12081263 - 31 Jul 2022
Viewed by 656
Abstract
As genetic testing becomes increasingly incorporated into clinical practice to aid in both the diagnosis and risk assessment of genetic diseases, patients benefit from genetic counseling to support their understanding of test results either before and/or after genetic testing. Therefore, access to genetic [...] Read more.
As genetic testing becomes increasingly incorporated into clinical practice to aid in both the diagnosis and risk assessment of genetic diseases, patients benefit from genetic counseling to support their understanding of test results either before and/or after genetic testing. Therefore, access to genetic testing and counseling is imperative for patient care. It is well established that health insurance coverage is a major determinant of access to health care in the United States as individuals without insurance are less likely to have a regular source of health care than their insured counterparts. Different health insurance plans and benefits also influence patients’ access to health care. Data on the association of health insurance and the uptake of genetic testing and/or counseling for cancer risk are limited. Using data from the National Health Interview Survey, we examined the uptake of genetic testing and/or counseling for breast/ovarian cancer risk by health insurance type. We found that only a small proportion of women undergo genetic testing and/or counseling for breast/ovarian cancer risk (2.3%), even among subgroups of women at risk due to family or personal history (6.5%). Women with health insurance were more likely to undergo genetic testing and/or counseling for breast/ovarian cancer risk, particularly those with military and private insurance plans, than those without health insurance after adjusting for various demographic, socioeconomic, and health risk covariates. Further investigations are needed to examine potential disparities in access and health inequities. Full article
(This article belongs to the Special Issue Precision Medicine in Clinical Practice)
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Article
Genetic Testing and/or Counseling for Colorectal Cancer by Health Insurance Type
J. Pers. Med. 2022, 12(7), 1146; https://doi.org/10.3390/jpm12071146 - 15 Jul 2022
Cited by 1 | Viewed by 609
Abstract
Genetic testing is increasingly used in clinical practice to assist with the diagnosis of genetic diseases and/or provide information about disease risk, and genetic counseling supports patient understanding of test results before and/or after genetic testing. Therefore, access to genetic testing and counseling [...] Read more.
Genetic testing is increasingly used in clinical practice to assist with the diagnosis of genetic diseases and/or provide information about disease risk, and genetic counseling supports patient understanding of test results before and/or after genetic testing. Therefore, access to genetic testing and counseling is important for patient care. Health insurance coverage is a major determinant of access to health care in the United States. Uninsured individuals are less likely to have a regular source of health care than their insured counterparts. Different health insurance types and benefits also influence access to health care. Data on the association of health insurance and uptake of genetic testing and/or counseling for cancer risk are limited. Using data from the National Health Interview Survey, we examined the uptake of genetic testing and/or counseling for colorectal cancer (CRC) risk by health insurance type. We found that only a small proportion of individuals undergo genetic testing and/or counseling for CRC risk (0.8%), even among subgroups of individuals at risk due to family or personal history (3.7%). Insured individuals were more likely to undergo genetic testing and/or counseling for CRC risk, particularly those with Military and Private insurance plans, after adjusting for various demographic, socioeconomic, and health risk covariates. Further investigations are warranted to examine potential disparities in access and health inequities. Full article
(This article belongs to the Special Issue Precision Medicine in Clinical Practice)
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Article
An Idealized Clinicogenomic Registry to Engage Underrepresented Populations Using Innovative Technology
J. Pers. Med. 2022, 12(5), 713; https://doi.org/10.3390/jpm12050713 - 29 Apr 2022
Viewed by 951
Abstract
Current best practices in tumor registries provide a glimpse into a limited time frame over the natural history of disease, usually a narrow window around diagnosis and biopsy. This creates challenges meeting public health and healthcare reimbursement policies that increasingly require robust documentation [...] Read more.
Current best practices in tumor registries provide a glimpse into a limited time frame over the natural history of disease, usually a narrow window around diagnosis and biopsy. This creates challenges meeting public health and healthcare reimbursement policies that increasingly require robust documentation of long-term clinical trajectories, quality of life, and health economics outcomes. These challenges are amplified for underrepresented minority (URM) and other disadvantaged populations, who tend to view the institution of clinical research with skepticism. Participation gaps leave such populations underrepresented in clinical research and, importantly, in policy decisions about treatment choices and reimbursement, thus further augmenting health, social, and economic disparities. Cloud computing, mobile computing, digital ledgers, tokenization, and artificial intelligence technologies are powerful tools that promise to enhance longitudinal patient engagement across the natural history of disease. These tools also promise to enhance engagement by giving participants agency over their data and addressing a major impediment to research participation. This will only occur if these tools are available for use with all patients. Distributed ledger technologies (specifically blockchain) converge these tools and offer a significant element of trust that can be used to engage URM populations more substantively in clinical research. This is a crucial step toward linking composite cohorts for training and optimization of the artificial intelligence tools for enhancing public health in the future. The parameters of an idealized clinical genomic registry are presented. Full article
(This article belongs to the Special Issue Precision Medicine in Clinical Practice)
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Article
Real-World Impact of a Pharmacogenomics-Enriched Comprehensive Medication Management Program
J. Pers. Med. 2022, 12(3), 421; https://doi.org/10.3390/jpm12030421 - 08 Mar 2022
Cited by 2 | Viewed by 4093
Abstract
The availability of clinical decision support systems (CDSS) and other methods for personalizing medicine now allows evaluation of their real-world impact on healthcare delivery. For example, addressing issues associated with polypharmacy in older patients using pharmacogenomics (PGx) and comprehensive medication management (CMM) is [...] Read more.
The availability of clinical decision support systems (CDSS) and other methods for personalizing medicine now allows evaluation of their real-world impact on healthcare delivery. For example, addressing issues associated with polypharmacy in older patients using pharmacogenomics (PGx) and comprehensive medication management (CMM) is thought to hold great promise for meaningful improvements across the goals of the Quadruple Aim. However, few studies testing these tools at scale, using relevant system-wide metrics, and under real-world conditions, have been published to date. Here, we document a reduction of ~$7000 per patient in direct medical charges (a total of $37 million over 5288 enrollees compared to 22,357 non-enrolled) in Medicare Advantage patients (≥65 years) receiving benefits through a state retirement system over the first 32 months of a voluntary PGx-enriched CMM program. We also observe a positive shift in healthcare resource utilization (HRU) away from acute care services and toward more sustainable and cost-effective primary care options. Together with improvements in medication risk assessment, patient/provider communication via pharmacist-mediated medication action plans (MAP), and the sustained positive trends in HRU, we suggest these results validate the use of a CDSS to unify PGx and CMM to optimize care for this and similar patient populations. Full article
(This article belongs to the Special Issue Precision Medicine in Clinical Practice)
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Article
Education and Training of Non-Genetics Providers on the Return of Genome Sequencing Results in a NICU Setting
J. Pers. Med. 2022, 12(3), 405; https://doi.org/10.3390/jpm12030405 - 05 Mar 2022
Cited by 2 | Viewed by 667
Abstract
To meet current and expected future demand for genome sequencing in the neonatal intensive care unit (NICU), adjustments to traditional service delivery models are necessary. Effective programs for the training of non-genetics providers (NGPs) may address the known barriers to providing genetic services [...] Read more.
To meet current and expected future demand for genome sequencing in the neonatal intensive care unit (NICU), adjustments to traditional service delivery models are necessary. Effective programs for the training of non-genetics providers (NGPs) may address the known barriers to providing genetic services including limited genetics knowledge and lack of confidence. The SouthSeq project aims to use genome sequencing to make genomic diagnoses in the neonatal period and evaluate a scalable approach to delivering genome sequencing results to populations with limited access to genetics professionals. Thirty-three SouthSeq NGPs participated in a live, interactive training intervention and completed surveys before and after participation. Here, we describe the protocol for the provider training intervention utilized in the SouthSeq study and the associated impact on NGP knowledge and confidence in reviewing, interpreting, and using genome sequencing results. Participation in the live training intervention led to an increased level of confidence in critical skills needed for real-world implementation of genome sequencing. Providers reported a significant increase in confidence level in their ability to review, understand, and use genome sequencing result reports to guide patient care. Reported barriers to implementation of genome sequencing in a NICU setting included test cost, lack of insurance coverage, and turn around time. As implementation of genome sequencing in this setting progresses, effective education of NGPs is critical to provide access to high-quality and timely genomic medicine care. Full article
(This article belongs to the Special Issue Precision Medicine in Clinical Practice)
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Communication
Clin.iobio: A Collaborative Diagnostic Workflow to Enable Team-Based Precision Genomics
J. Pers. Med. 2022, 12(1), 73; https://doi.org/10.3390/jpm12010073 - 08 Jan 2022
Cited by 1 | Viewed by 916
Abstract
The primary goal of precision genomics is the identification of causative genetic variants in targeted or whole-genome sequencing data. The ultimate clinical hope is that these findings lead to an efficacious change in treatment for the patient. In current clinical practice, these findings [...] Read more.
The primary goal of precision genomics is the identification of causative genetic variants in targeted or whole-genome sequencing data. The ultimate clinical hope is that these findings lead to an efficacious change in treatment for the patient. In current clinical practice, these findings are typically returned by expert analysts as static, text-based reports. Ideally, these reports summarize the quality of the data obtained, integrate known gene–phenotype associations, follow allele segregation and affected status within the sequenced samples, and weigh computational evidence of pathogenicity. These findings are used to prioritize the variant(s) most likely to cause the given patient’s phenotypes. In most diagnostic settings, a team of experts contribute to these reports, including bioinformaticians, clinicians, and genetic counselors, among others. However, these experts often do not have the necessary tools to review genomic findings, test genetic hypotheses, or query specific gene and variant information. Additionally, team members often rely on different tools and methods based on their given expertise, resulting in further difficulties in communicating and discussing genomic findings. Here, we present clin.iobio—a web-based solution to collaborative genomic analysis that enables diagnostic team members to focus on their area of expertise within the diagnostic process, while allowing them to easily review and contribute to all steps of the diagnostic process. Clin.iobio integrates tools from the popular iobio genomic visualization suite into a comprehensive diagnostic workflow, encompassing (1) genomic data quality review, (2) dynamic phenotype-driven gene prioritization, (3) variant prioritization using a comprehensive set of knowledge bases and annotations, (4) and an exportable findings summary. In conclusion, clin.iobio is a comprehensive solution to team-based precision genomics, the findings of which stand to inform genomic considerations in clinical practice. Full article
(This article belongs to the Special Issue Precision Medicine in Clinical Practice)
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Article
Defining the Critical Components of Informed Consent for Genetic Testing
J. Pers. Med. 2021, 11(12), 1304; https://doi.org/10.3390/jpm11121304 - 05 Dec 2021
Viewed by 1067
Abstract
Purpose: Informed consent for genetic testing has historically been acquired during pretest genetic counseling, without specific guidance defining which core concepts are required. Methods: The Clinical Genome Resource (ClinGen) Consent and Disclosure Recommendations Workgroup (CADRe) used an expert consensus process to identify the [...] Read more.
Purpose: Informed consent for genetic testing has historically been acquired during pretest genetic counseling, without specific guidance defining which core concepts are required. Methods: The Clinical Genome Resource (ClinGen) Consent and Disclosure Recommendations Workgroup (CADRe) used an expert consensus process to identify the core concepts essential to consent for clinical genetic testing. A literature review identified 77 concepts that are included in informed consent for genetic tests. Twenty-five experts (9 medical geneticists, 8 genetic counselors, and 9 bioethicists) completed two rounds of surveys ranking concepts’ importance to informed consent. Results: The most highly ranked concepts included: (1) genetic testing is voluntary; (2) why is the test recommended and what does it test for?; (3) what results will be returned and to whom?; (4) are there other types of potential results, and what choices exist?; (5) how will the prognosis and management be impacted by results?; (6) what is the potential family impact?; (7) what are the test limitations and next steps?; and (8) potential risk of genetic discrimination and legal protections. Conclusion: Defining the core concepts necessary for informed consent for genetic testing provides a foundation for quality patient care across a variety of healthcare providers and clinical indications. Full article
(This article belongs to the Special Issue Precision Medicine in Clinical Practice)
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Article
Economic Evaluation of Universal Lynch Syndrome Screening Protocols among Newly Diagnosed Patients with Colorectal Cancer
J. Pers. Med. 2021, 11(12), 1284; https://doi.org/10.3390/jpm11121284 - 02 Dec 2021
Cited by 1 | Viewed by 1046
Abstract
We conducted an updated economic evaluation, from a healthcare system perspective, to compare the relative effectiveness and efficiency of eight Lynch syndrome (LS) screening protocols among newly diagnosed colorectal cancer (CRC) patients. We developed decision analytic models for a hypothetical cohort of 1000 [...] Read more.
We conducted an updated economic evaluation, from a healthcare system perspective, to compare the relative effectiveness and efficiency of eight Lynch syndrome (LS) screening protocols among newly diagnosed colorectal cancer (CRC) patients. We developed decision analytic models for a hypothetical cohort of 1000 patients. Model assumptions and parameter values were based on literature and expert opinion. All costs were in 2018 USD. For identifying LS cases, the direct germline sequencing (DGS) protocol provided the best performance (sensitivity 99.90%, 99.57–99.93%; specificity 99.50%, 97.28–99.85%), followed by the tumor sequencing to germline sequencing (TSGS) protocol (sensitivity, 99.42%, 96.55–99.63%; specificity, 96.58%, 96.46–96.60%). The immunohistochemistry (IHC) protocol was most efficient at $20,082 per LS case identified, compared to microsatellite instability (MSI) ($22,988), DGS ($31,365), and TSGS ($104,394) protocols. Adding double-somatic testing to IHC and MSI protocols did not change sensitivity and specificity, increased costs by 6% and 3.5%, respectively, but reduced unexplained cases by 70% and 50%, respectively. DGS would be as efficient as the IHC protocol when the cost of germline sequencing declines under $368 indicating DGS could be an efficient option in the near future. Until then, IHC and MSI protocols with double-somatic testing would be the optimal choices. Full article
(This article belongs to the Special Issue Precision Medicine in Clinical Practice)
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Article
Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol
J. Pers. Med. 2021, 11(11), 1194; https://doi.org/10.3390/jpm11111194 - 13 Nov 2021
Viewed by 754
Abstract
Guidelines currently state that genetic testing is clinically indicated for all individuals diagnosed with ovarian cancer. Individuals with a prior diagnosis of ovarian cancer who have not received genetic testing represent missed opportunities to identify individuals with inherited high-risk cancer variants. For deceased [...] Read more.
Guidelines currently state that genetic testing is clinically indicated for all individuals diagnosed with ovarian cancer. Individuals with a prior diagnosis of ovarian cancer who have not received genetic testing represent missed opportunities to identify individuals with inherited high-risk cancer variants. For deceased individuals, post-mortem genetic testing of pathology specimens allows surviving family members to receive important genetic risk information. The Genetic Risk Assessment in Ovarian Cancer (GRACE) study aims to address this significant healthcare gap using a “traceback testing” approach to identify individuals with a prior diagnosis of ovarian cancer and offer genetic risk information to them and their family members. This study will assess the potential ethical and privacy concerns related to an ovarian cancer traceback testing approach in the context of patients who are deceased, followed by implementation and evaluation of the feasibility of an ovarian cancer traceback testing approach using tumor registries and archived pathology tissue. Descriptive and statistical analyses will assess health system and patient characteristics associated with the availability of pathology tissue and compare the ability to contact and uptake of genetic testing between patients who are living and deceased. The results of this study will inform the implementation of future traceback programs. Full article
(This article belongs to the Special Issue Precision Medicine in Clinical Practice)
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Article
Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses
J. Pers. Med. 2021, 11(5), 365; https://doi.org/10.3390/jpm11050365 - 01 May 2021
Cited by 3 | Viewed by 1043
Abstract
Genomic variants that cause neurodevelopmental/psychiatric disorders (NPD) are relatively prevalent and highly penetrant. This study aimed to understand adults’ immediate responses to receiving NPD-related results to inform inclusion in population-based genomic screening programs. Nine recurrent, pathogenic copy number variants (CNVs) were identified from [...] Read more.
Genomic variants that cause neurodevelopmental/psychiatric disorders (NPD) are relatively prevalent and highly penetrant. This study aimed to understand adults’ immediate responses to receiving NPD-related results to inform inclusion in population-based genomic screening programs. Nine recurrent, pathogenic copy number variants (CNVs) were identified from research exome data, clinically confirmed, and disclosed to adult participants of the Geisinger MyCode Community Health Initiative DiscovEHR cohort by experienced genetic counselors. A subset of in-person genetic counseling sessions (n = 27) were audio-recorded, transcribed, and coded using a grounded theory approach. Participant reactions were overwhelmingly positive and indicated that an NPD genetic etiology was highly valuable and personally useful. Participants frequently reported learning disabilities or other NPD that were not documented in their electronic health records and noted difficulties obtaining support for NPD needs. Most intended to share their genetic result with family members and health care providers and were interested in how their result could improve their healthcare. This study indicates that results from population-based NPD genomic screening can provide personal value for adults with NPD, were viewed positively by participants, and could improve clinical outcomes by informing symptom monitoring for NPD and co-morbidities, promoting improved health behaviors, and enhancing psychotherapeutic approaches. Full article
(This article belongs to the Special Issue Precision Medicine in Clinical Practice)
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Review

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Review
Patient-Reported Outcomes following Genetic Testing for Familial Hypercholesterolemia, Breast and Ovarian Cancer Syndrome, and Lynch Syndrome: A Systematic Review
J. Pers. Med. 2021, 11(9), 850; https://doi.org/10.3390/jpm11090850 - 27 Aug 2021
Cited by 1 | Viewed by 1591
Abstract
Background: Patient-reported outcomes (PROs) and PRO measures (PROMs) are real-world evidence that can help capture patient experiences and perspectives regarding a clinical intervention such as genetic testing. Objective: To identify and capture methods and qualitative PRO themes among studies reporting PROs following genetic [...] Read more.
Background: Patient-reported outcomes (PROs) and PRO measures (PROMs) are real-world evidence that can help capture patient experiences and perspectives regarding a clinical intervention such as genetic testing. Objective: To identify and capture methods and qualitative PRO themes among studies reporting PROs following genetic testing for FH, breast and ovarian cancer syndrome, and Lynch syndrome. Methods: A systematic review was conducted via PubMed/MEDLINE, EMBASE, and Yale University’s TRIP Medical Databases on articles published by April 2021. Results: We identified 24 studies published between 1996 and 2021 representing 4279 participants that reported PROs following genetic testing for FH, breast and ovarian cancer syndrome, and Lynch syndrome. Studies collected and reported PROs from validated PROM instruments (n = 12; 50%), validated surveys (n = 7; 26%), and interviews (n = 10; 42%). PRO themes ranged across all collection methods (e.g., psychological, knowledge, coping and satisfaction, concern about stigma/discrimination, etc.). Conclusions: Important gaps identified include (1) most studies (n = 18; 75%) reported PROs following genetic testing for breast and ovarian cancer, and (2) populations reporting PROs overall were largely of White/Caucasian/Northern European/Anglo-Saxon descent. We offer recommendations and describe real-world implications for the field moving forward. Full article
(This article belongs to the Special Issue Precision Medicine in Clinical Practice)
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