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Ethics in Expanding Precision Medicine to Population Health
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Ethics in Expanding Precision Medicine to Population Health

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

Deadline for manuscript submissions: closed (31 December 2022) | Viewed by 10295

Special Issue Editors

Prof. Dr. Richard Sharp

E-Mail Website
Guest Editor
Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Interests: health care; biomedical ethics; clinical ethics consultation; digital health technologies
Dr. Karen Meagher

E-Mail Website
Guest Editor
Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA
Interests: ethics and population health; genetic technologies ethics; bioethics

Special Issue Information

Dear Colleagues,

The promise of precision medicine has its origins in population health science, founded on inferences made possible by risk stratification. Thirty years after the Human Genome Project, advances in genomics are creating new opportunities to enhance the health of populations around the world, ranging from primary care screening to infection control and prevention. These applications of genomics to public health also raise a number of attendant social and ethical challenges. For example, the expansion of newborn screening has the ability to provide families with years of improved quality of life, but raises concerns about the adequacy of an already strained public health infrastructure; gene-editing holds the possibility of precision disease eradication, but cannot escape the shadow of eugenics; and while response to the COVID-19 pandemic demonstrates the power of genomics to improve infectious disease monitoring, inequities in the distribution of healthcare resources across nations may limit the potential benefit of these emerging technologies.

This Special Issue will examine ethical, social and legal implications of the population-level translation of genetics and genomics. The Guest Editors welcome contributions from any discipline relevant to genomics or public health, and encourage submissions that examine issues of justice in the application of genomic tools to public health. Of particular interest are articles that advance the ELSI field to address neglected issues at the population level. Authors from LMIC and/or scholars working outside academic medical centers are encouraged to contact the Guest Editors regarding the possibility of a waiver of standard publication fees.

Prof. Dr. Richard Sharp
Dr. Karen Meagher
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 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • precision medicine 
  • primary care screening 
  • genomics 
  • public health 
  • risk management 
  • ethical, legal, and social issues (ELSI)

Published Papers (4 papers)

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Research

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13 pages, 482 KiB  
Article
How Clinicians Conceptualize “Actionability” in Genomic Screening
by Kellie Owens, Pamela Sankar and Dina M. Asfaha
J. Pers. Med. 2023, 13(2), 290; https://doi.org/10.3390/jpm13020290 - 04 Feb 2023
Cited by 1 | Viewed by 1590
Abstract
Over the last decade, the concept of actionability has become a primary framework for assessing whether genetic data is useful and appropriate to return to patients. Despite the popularity of this concept, there is little consensus about what should count as “actionable” information. [...] Read more.
Over the last decade, the concept of actionability has become a primary framework for assessing whether genetic data is useful and appropriate to return to patients. Despite the popularity of this concept, there is little consensus about what should count as “actionable” information. This is particularly true in population genomic screening, where there is considerable disagreement about what counts as good evidence and which clinical actions are appropriate for which patients. The pathway from scientific evidence to clinical action is not straightforward—it is as much social and political as it is scientific. This research explores the social dynamics shaping the integration of “actionable” genomic data into primary care settings. Based on semi-structured interviews with 35 genetics experts and primary care providers, we find that clinicians vary in how they define and operationalize “actionable” information. There are two main sources of disagreement. First, clinicians differ on the levels and types of evidence required for a result to be actionable, such as when we can be confident that genomic data provides accurate information. Second, there are disagreements about the clinical actions that must be available so that patients can benefit from that information. By highlighting the underlying values and assumptions embedded in discussions of actionability for genomic screening, we provide an empirical basis for building more nuanced policies regarding the actionability of genomic data in terms of population screening in primary care settings. Full article
(This article belongs to the Special Issue Ethics in Expanding Precision Medicine to Population Health)
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17 pages, 499 KiB  
Article
The New Precision Stewards?
by Karen M. Meagher, Sara Watson, Gina A. Suh and Abinash Virk
J. Pers. Med. 2022, 12(8), 1308; https://doi.org/10.3390/jpm12081308 - 12 Aug 2022
Cited by 2 | Viewed by 1731
Abstract
The precision health era is likely to reduce and respond to antimicrobial resistance (AMR). Our stewardship and precision efforts share terminology, seeking to deliver the “right drug, at the right dose, at the right time.” Already, rapid diagnostic testing, phylogenetic surveillance, and real-time [...] Read more.
The precision health era is likely to reduce and respond to antimicrobial resistance (AMR). Our stewardship and precision efforts share terminology, seeking to deliver the “right drug, at the right dose, at the right time.” Already, rapid diagnostic testing, phylogenetic surveillance, and real-time outbreak response provide just a few examples of molecular advances we dub “precision stewardship.” However, the AMR causal factors range from the molecular to that of global health policy. Mirroring the cross-sectoral nature of AMR science, the research addressing the ethical, legal and social implications (ELSI) of AMR ranges across academic scholarship. As the rise of AMR is accompanied by an escalating sense of its moral and social significance, what is needed is a parallel field of study. In this paper, we offer a gap analysis of this terrain, or an agenda for “the ELSI of precision stewardship.” In the first section, we discuss the accomplishments of a multi-decade U.S. national investment in ELSI research attending to the advances in human genetics. In the next section, we provide an overview of distinct ELSI topics pertinent to AMR. The distinctiveness of an ELSI agenda for precision stewardship suggests new opportunities for collaboration to build the stewardship teams of the future. Full article
(This article belongs to the Special Issue Ethics in Expanding Precision Medicine to Population Health)
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0 pages, 552 KiB  
Article
The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation
by Kimberly S. Foss, Julianne M. O’Daniel, Jonathan S. Berg, Sabrina N. Powell, Rosemary Jean Cadigan, Kristine J. Kuczynski, Laura V. Milko, Katherine W. Saylor, Megan Roberts, Karen Weck and Gail E. Henderson
J. Pers. Med. 2022, 12(5), 692; https://doi.org/10.3390/jpm12050692 - 26 Apr 2022
Cited by 12 | Viewed by 3111 | Correction
Abstract
Purpose: Advances in clinical genomic sequencing capabilities, including reduced costs and knowledge gains, have bolstered the consideration of genomic screening in healthy adult populations. Yet, little is known about the existing landscape of genomic screening programs in the United States. It can be [...] Read more.
Purpose: Advances in clinical genomic sequencing capabilities, including reduced costs and knowledge gains, have bolstered the consideration of genomic screening in healthy adult populations. Yet, little is known about the existing landscape of genomic screening programs in the United States. It can be difficult to find information on current implementation efforts and best practices, particularly in light of critical questions about equity, cost, and benefit. Methods: In 2020, we searched publicly available information on the Internet and the scientific literature to identify programs and collect information, including: setting, program funding, targeted population, test offered, and patient cost. Program representatives were contacted throughout 2020 and 2021 to clarify, update, and supplement the publicly available information. Results: Twelve programs were identified. Information was available on key program features, such as setting, genes tested, and target populations. Data on costs, outcomes, or long-term sustainability plans were not always available. Most programs offered testing at no or significantly reduced cost due to generous pilot funding, although the sustainability of these programs remains unknown. Gene testing lists were diverse, ranging from 11 genes (CDC tier 1 genes) to 59 genes (ACMG secondary findings list v.2) to broad exome and genome sequencing. This diversity presents challenges for harmonized data collection and assessment of program outcomes. Conclusions: Early programs are exploring the logistics and utility of population genomic screening in various settings. Coordinated efforts are needed to take advantage of data collected about uptake, infrastructure, and intervention outcomes to inform future research, evaluation, and program development. Full article
(This article belongs to the Special Issue Ethics in Expanding Precision Medicine to Population Health)
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9 pages, 244 KiB  
Perspective
All of Us and the Promise of Precision Medicine: Achieving Equitable Access for Federally Qualified Health Center Patients
by Carolyn P. Neuhaus, Danielle M. Pacia, Johanna T. Crane, Karen J. Maschke and Nancy Berlinger
J. Pers. Med. 2023, 13(4), 615; https://doi.org/10.3390/jpm13040615 - 31 Mar 2023
Cited by 2 | Viewed by 2006
Abstract
The United States National Institutes of Health’s (NIH) All of Us (AoU) initiative recruits participants from diverse backgrounds to improve the makeup of biobanks, considering nearly all biospecimens used in research come from people of European ancestry. Participants who join AoU consent to [...] Read more.
The United States National Institutes of Health’s (NIH) All of Us (AoU) initiative recruits participants from diverse backgrounds to improve the makeup of biobanks, considering nearly all biospecimens used in research come from people of European ancestry. Participants who join AoU consent to provide samples of blood, urine, and/or saliva and to submit their electronic health record to the program. In addition to diversifying precision medicine research studies, AoU will return genetic results back to many participants, which may require further follow-up care (i.e., more frequent cancer screening or mastectomy after a BRCA result). To help achieve its goals, AoU has partnered with Federally Qualified Health Centers (FQHCs), which is a type of community health center whose patient base is comprised largely of people who are uninsured, underinsured, or on Medicaid. Our NIH-funded study convened FQHC providers involved in AoU to better understand precision medicine in community health settings. Drawing from our findings, we present barriers community health patients and their providers face when accessing diagnostics and specialty care after genetic results necessitate medical follow-up care. We also propose several policy and financial recommendations to help overcome the challenges discussed, stemming from a commitment to equitable access to precision medicine advances. Full article
(This article belongs to the Special Issue Ethics in Expanding Precision Medicine to Population Health)
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