Debra J H Mathews

Johns Hopkins University | JHU · Berman Institute of Bioethics

Consumer interest in genetic and genomic testing is growing rapidly, with more than 26 million Americans having purchased direct-to-consumer genetic testing services. Capitalizing on the increasing comfort of consumers with genetic testing outside the clinical environment, commercial vendors are expanding their customer base by marketing genetic an...

Use of D NA markers in research that are used in law enforcement risks undermining public trust and participation

The Earth BioGenome Project (EBP) is an audacious endeavor to obtain whole-genome sequences of representatives from all eukaryotic species on Earth. In addition to the project’s technical and organizational challenges, it also faces complicated ethical, legal, and social issues. This paper, from members of the EBP’s Ethical, Legal, and Social Issue...

While the embedded nature of pragmatic clinical trials (PCTs) can improve the efficiency and relevance of research for multiple stakeholders, embedding research into ongoing clinical care can also involve ethical and regulatory challenges. An emergent challenge is the management of pragmatic clinical trial collateral findings (PCT-CFs). While PCT-C...

Background Research in genetics and infectious diseases (ID) presents novel configurations of ethical, legal, and social issues (ELSIs) related to the intersection of genetics with public health regulations and the control of transmissible diseases. Such research includes work both in pathogen genetics and on the ways that human genetics affect res...

Microsatellites, or MSATs, offer a fast and cost-effective way for biobanks to establish a biospecimen genetic profile. Importantly, this genetic profile can be used to authenticate multiple submissions derived from the same individual as well as biospecimens derived from the same original sample submission over time. While the Certificate of Confi...

Background Collateral findings in pragmatic clinical trials are findings that may have implications for patients’ health but were not generated to address a trial’s primary research questions. It is uncertain how best to communicate these collateral findings to patients.Objectives To determine how reactions to a letter communicating collateral find...

This chapter argues for a need for a theory of moral status that can help to provide solutions to practical problems in public policy that take account of the interests of diverse nonhuman animals. To illustrate this need, the chapter briefly describes two contemporary problems, one in science policy and one in food and climate policy. The first se...

Organoid research is enhancing understanding of human development and diseases as well as aiding in medication development and selection, raising hopes for even more future therapeutic options. Nevertheless, this work raises important ethical issues and there is a paucity of data regarding patients' perspectives on them. We report on 60 interviews...

There is a need for multimodal strategies to keep research participants informed about study results. Our aim was to characterize preferences of genomic research participants from two institutions along four dimensions of general research result updates: content, timing, mechanism, and frequency. Methods: We conducted a web-based cross-sectional...

The International Society for Stem Cell Research has updated its Guidelines for Stem Cell Research and Clinical Translation in order to address advances in stem cell science and other relevant fields, together with the associated ethical, social, and policy issues that have arisen since the last update in 2016. While growing to encompass the evolvi...

The ISSCR Guidelines for Stem Cell Research and Clinical Translation were last revised in 2016. Since then, rapid progress has been made in research areas related to in vitro culture of human embryos, creation of stem cell-based embryo models, and in vitro gametogenesis. Therefore, a working group of international experts was convened to review the...

There is a need for multimodal strategies to keep research participants informed about study results. Our aim was to characterize preferences of genomic research participants from two institutions along four dimensions of general research result updates: content, timing, mechanism, and frequency. Methods: We conducted a web-based cross-sectional su...

Employers have begun to offer voluntary workplace genomic testing (wGT) as part of employee wellness benefit programs, but few empirical studies have examined the ethical, legal, and social implications (ELSI) of wGT. To better understand employee perspectives on wGT, employees were surveyed at a large biomedical research institution. Survey respon...

Genomic studies of patients with COVID-19, or exposed to it, are underway to delineate host factors associated with variability in susceptibility, infectivity, and disease severity. Here, we highlight the ethical implications—both potential benefits and harms—of genomics for clinical practice and public health in the era of COVID-19.

The 18-member HHGE commission was co-chaired by two eminent human geneticists, Dame Kay E. Davies (University of Oxford) and Richard P. Lifton (Rockefel-ler University), and compiled the report over more than a year of meetings and deliberations. It offers a transla-tional pathway for the limited approval of HHGE under very particular circumstances...

Context Pragmatic clinical trials (PCTs), which are becoming widespread since they are relatively inexpensive and offer important benefits for healthcare decision‐making, can also present practical, ethical, and legal challenges. One such challenge involves managing “pragmatic clinical trial collateral findings” (PCT‐CFs), or information emerging i...

In the planning and design of the Radicava/Edaravone Findings in Biomarkers From Amyotrophic Lateral Sclerosis (REFINE-ALS) study, we sought to elicit feedback from patients with ALS and their caregivers to ensure that patient-centric issues would be addressed. Ten ALS Clinical Research Learning Institute (ALS-CRLI) Research Ambassadors participate...

Background: Pragmatic clinical trials (PCTs) are increasingly being conducted to efficiently generate evidence to inform healthcare decision-making. Despite their growing acceptance, PCTs may involve a variety of ethical issues, including the management of pragmatic clinical trial-collateral findings (PCT-CFs), that is, information that emerges in...

Genetic test results are often relevant not only to persons tested, but also to their children. Questions of whether, when, and how to disclose parental test results to children, particularly minors, can be difficult for parents to navigate. Currently, limited data are available on these questions from the perspective of minors. In this qualitative...

Background: Communicating genetic information within families can provide individuals with the emotional support, alert family members to their own potential risk, and strengthen relationships. However, these communications have the potential to cause emotional distress to individuals and family members if family members are informed of a risk the...

The ethics of robots and artificial intelligence (AI) typically centers on “giving ethics” to as-yet imaginary AI with human-levels of autonomy in order to protect us from their potentially destructive power. It is often assumed that to do that, we should program AI with the true moral theory (whatever that might be), much as we teach morality to o...

Pragmatic clinical trials (PCTs) offer important benefits, such as generating evidence that is suited to inform real-world health care decisions and increasing research efficiency. However, PCTs also present ethical challenges. One such challenge involves the management of information that emerges in a PCT that is unrelated to the primary research...

Background: Oncology research increasingly involves biospecimen collection and data sharing. Ethical challenges emerge when researchers seek to use archived biospecimens for purposes that were not well defined in the original informed consent document (ICD). We sought to inform ongoing policy debates by assessing patient views on these issues. Ma...

In contrast to clinical biopsies, where tissue is collected to inform patient care, research biopsies are performed for scientific purposes to potentially enhance understanding of the biologic bases of cancer and drug action, thereby improving diagnosis and treatment, but they may offer no direct benefit to participants and have known risks. The wi...

Background: As scientific techniques evolve, historical informed consent forms may inadequately address modern research proposals, leading to ethical questions regarding research with archived biospecimens. Subjects, materials, and methods: We conducted focus groups among patients with cancer recruited from Massachusetts General Hospital to expl...

Background In 1983, Huntington's disease (HD) was the first genetic disease mapped using DNA polymorphisms. Shortly thereafter, presymptomatic genetic testing for HD began in the context of two research studies. One of these trials was at the Johns Hopkins University Huntington's Disease Center. Methods As part of the protocol, risk perception (RP...

Given dramatic increases in recent decades in the pace of scientific discovery and understanding of the functional organization of the brain, it is increasingly clear that engagement with the neuroscientific literature and research is central to making progress on philosophical questions regarding the nature and scope of human freedom and responsib...

This qualitative study gathered opinions about genetic testing from people who received presymptomatic testing for Huntington's disease (HD) 20-30 years ago and have lived with the implications of that testing for decades. During the last section of a semi-structured interview, participants were asked open-ended questions about their opinions on th...

The opportunity to receive individual research results (IRRs) in accordance with personal preferences may incentivize biobank participation and maximize perceived benefit. This trial investigated the relationship between parents’ preferences and intent to participate (ITP) in biobank research utilizing their child’s genetic information. We randomiz...

Background: Oncology research increasingly involves biospecimen collection and data-sharing. Ethical questions have emerged when researchers seek to use archived biospecimens for purposes that were not well defined in the original informed consent document (ICD). We sought to inform ongoing debates by assessing patient views on these issues. Method...

Dissecting Bioethics, edited by Tuija Takala and Matti Hayry, welcomes contributions on the conceptual and theoretical dimensions of bioethics. The department is dedicated to the idea that words defined by bioethicists and others should not be allowed to imprison people’s actual concerns, emotions, and thoughts. Papers that expose the many meanings...

Although consensus is building that primary (PR) and secondary findings (SF) from genomic research should be offered to participants under some circumstances, data describing (1) actual choices of study participants and (2) factors associated with these choices are limited, hampering study planning. We conducted a cross-sectional analysis of choice...

While the bioethics literature demonstrates that the field has spent substantial time and thought over the last four decades on the goals, methods, and desired outcomes for service and training in bioethics, there has been less progress defining the nature and goals of bioethics research and scholarship. This gap makes it difficult both to describe...

Aim: Practicing physicians inevitably become involved in pragmatic clinical trials (PCTs), including comparative effectiveness research. We sought to identify physicians' perspectives related to PCTs. Methods: In-depth semistructured interviews with 20 physicians in the USA. Results: Although physicians are generally willing to participate in...

As various advisory bodies, scientific organizations and funding agencies deliberate on genome editing in humans, Debra J. H.

The tools of neuroscience have increasingly been employed to address questions long considered the realm of philosophers, including questions of moral sentiment, choice, cognition, and action. This research seeks to identify the structures within the brain that function in and are the basis of human morality, to improve our understanding, for examp...

First introduced in 2011, the Synthetic Yeast Genome (Sc2.0) PROJECT is a large international synthetic genomics project that will culminate in the first eukaryotic cell (Saccharomyces cerevisiae) with a fully synthetic genome. With collaborators from across the globe and from a range of institutions spanning from do-it-yourself biology (DIYbio) to...

Discovering the genetic basis of a Mendelian phenotype establishes a causal link between genotype and phenotype, making possible carrier and population screening and direct diagnosis. Such discoveries also contribute to our knowledge of gene function, gene regulation, development, and biological mechanisms that can be used for developing new therap...

Vulnerability is an important criterion to assess the ethical justification of the inclusion of participants in research trials. Currently, vulnerability is often understood as an attribute inherent to a participant by nature of a diagnosed condition. Accordingly, a common ethical concern relates to the participant's decisionmaking capacity and abi...

The risks and benefits of research using large databases of personal information are evolving in an era of ubiquitous, internet-based data exchange. In addition, information technology has facilitated a shift in the relationship between individuals and their personal data, enabling increased individual control over how (and how much) personal data...

Although academics have raised ethical issues with iPSCs, patients' perspectives on them and their attitudes toward donating biological materials for iPSC research are unclear. Here, we provide such information to aid in developing policies for consent, collection, and use of biological materials for deriving iPSCs based on patient focus groups.

The complexities of the translational pathways for stem cell research point to the need to bolster incentives for collaborative, multinational, multidisciplinary, and multi-sectorial research and development, in particular, harnessing the respective strengths of academic, biotechnology, and pharmaceutical sectors. Collaborations, especially within...

In contrast to prior research, which has focused mainly on legislative content, this study aimed to characterize the current governance structures and procedures used by state newborn screening programs in the United States regarding the research use of residual dried blood spots. Content analysis was performed on newborn screening laws, program po...

Realizing the therapeutic potential of both stem cell and genomics research requires harnessing the respective strengths of academic, biotechnology, and pharmaceutical sectors, supported by policies and legal incentives for multisectorial collaboration. Here, we discuss issues facing these fields and lessons from the genomics sector that apply to s...

This article reviews some of the ethical issues raised by the emergence and use of deep brain stimulation (DBS) as a treatment for neuropsychiatric disorders. Issues include concerns about the capacity of persons with severe mental illness to give authentic informed consent, protecting vulnerable individuals from being exposed to unproven and poten...

According to the World Trade Organization, intellectual property rights are "rights given to persons over the creations of their minds. They usually give the creator an exclusive right over the use of his/her creation for a certain period of time." The rationale behind intellectual property rights is to offer a quid pro quo, between creators and th...

A range of implantable brain-interfacing devices (IBIDs) is currently in use and development for the treatment of movement disorders and disorders of mood, behaviour and thought. These include cochlear implants, deep brain stimulation (DBS), prosthetic limbs, and optogenetic interventions (the combined use of genetics and optics to control individu...

Many fields have struggled to develop strategies, policies, or structures to optimally manage data, materials, and intellectual property rights (IPRs). There is growing recognition that the field of stem cell science, in part because of its complex IPRs landscape and the importance of cell line collections, may require collective action to facilita...

A 2-day consensus conference was held to examine scientific and ethical issues in the application of deep brain stimulation for treating mood and behavioral disorders, such as major depression, obsessive-compulsive disorder, and Tourette syndrome. The primary objectives of the conference were to (1) establish consensus among participants about the...

Stem cell-based interventions (SCBIs) offer great promise; however, there is currently little internationally accepted, scientific evidence supporting the clinical use of SCBIs. The consensus within the scientific community is that a number of hurdles still need to be cleared. Despite this, SCBIs are currently being offered to patients. This articl...

An emerging body of data suggests that pluripotent stem cells may be able to differentiate to form eggs and sperm. We discuss the state of the science and the potential social implications and offer recommendations for addressing some of the ethical and policy issues that would be raised by the availability of stem cell-derived gametes.

The prospect of using cell-based interventions (CBIs) to treat neurological conditions raises several important ethical and policy questions. In this target article, we focus on issues related to the unique constellation of traits that characterize CBIs targeted at the central nervous system. In particular, there is at least a theoretical prospect...

This book brings together some of the best minds in neurology and philosophy to discuss the concept of personal identity and the moral dimensions of treating brain disease and injury. The contributors engage a crucial question: When an individual's personality changes radically because of disease or injury, should this changed individual be treated...

This book and the symposium that initiated it were based on two premises: (1) that bringing together experts from two different fields-philosophy and neuroscience-whose work addresses the construct of personal identity would advance our understanding of the topic and be of value to individuals in both fields; and (2) that using examples of clinical...

Progress in regenerative medicine seems likely to produce new treatments for neurologic conditions that use human cells as therapeutic agents; at least one trial for such an intervention is already under way. The development of cell-based interventions for neurologic conditions (CBI-NCs) will likely include preclinical studies using animals as mode...

Attempts to translate basic stem cell research into treatments for neurologic diseases and injury are well under way. With a clinical trial for one such treatment approved and in progress in the United States, and additional proposals under review, we must begin to address the ethical issues raised by such early forays into human clinical trials fo...

This article is a consensus statement by an international interdisciplinary group of academic experts and Canadian policy-makers on emerging ethical, legal and social issues in human embryonic stem cells (hESC) research in Canada. The process of researching consensus included consultations with key stakeholders in hESC research (regulations, stem c...

Although countries with different traditions, laws, and cultures may not agree on standards for stem cell research, a set of principles could clarify terms of collaboration.

Though much research about the public's views of scientists, genetic research and its moral, ethical, and social implications exists, little has been done to investigate how scientists view their own role(s) in public discussions and policy formation related to genetic research and technologies. We interviewed 20 academic geneticists in the United...

To identify underlying beliefs and values shaping Americans' opinions about the appropriate use of new reproductive genetic technologies (RGTs), including preimplantation genetic diagnosis, hypothetical genetic modification, and sperm sorting for sex selection. Scenarios with ethical dilemmas presented to 21 focus groups organized by sex, race/ethn...

The genetic dissection of complex traits may ultimately require a large number of SNPs to be genotyped in multiple individuals who exhibit phenotypic variation in a trait of interest. Microarray technology can enable rapid genotyping of variation specific to study samples. To facilitate their use, we have developed an automated statistical method (...