About

Debra Mathews, PhD, MA, is the Associate Director for Research and Programs at the Johns Hopkins Berman Institute of Bioethics and a Professor in the Department of Genetic Medicine at Johns Hopkins University School of Medicine. Her academic work focuses on ethics and policy issues raised by emerging technologies, with particular emphasis on genetics, stem cell science, neuroscience, synthetic biology, and artificial intelligence. She leads the Genomics and Society Mentorship Program and serves as the Chair of the Berman Institute’s Inclusion, Diversity, Anti-Racism, and Equity (IDARE) Committee. Within the Institute for Assured Autonomy (IAA), she functions as the Ethics & Governance Lead, guiding work on the ethical, societal, and governance implications of autonomous systems and integrating ethics into related priorities.

Research topics

• Computer Science
• Biology
• Engineering ethics
• Political Science
• Cell biology
• Biotechnology
• Artificial Intelligence
• Engineering
• Genetics
• Law

Selected publications

• Navigating the impact of the 21st‐Century Cures Act Final Rule: A national cross‐sectional survey of US genetic counselors

  Journal of Genetic Counseling · 2025-05-12

  articleOpen accessSenior author

  The 21st Century Cures Act Final Rule (Final Rule) increases patient access to their health records but raises concerns about distress and misunderstanding of automatically released results and documentation. Little is known about genetic counselors' (GCs') experiences with the Final Rule. In Fall 2023, we conducted a cross-sectional survey of US GCs about the Final Rule's perceived impact on practice and assessed if being the ordering versus non-ordering provider for genetic testing affected perceptions of Final Rule-related changes. GCs (n = 102) reported demographic and workplace characteristics, institutional policy changes, workflow changes, and perceived patient harms and benefits due to the Final Rule. To compare ordering and non-ordering providers, we conducted Fisher's exact tests for categorical variables and trend tests for ordinal variables. Open-response questions elicited examples of positive and negative patient impacts, the effects of patient characteristics, and practice changes in response to the Final Rule. Twenty-seven GCs were ordering providers and 66 were non-ordering providers. Relative to ordering providers, non-ordering providers expressed stronger agreement with statements indicating concern about the emotional impact on patients reviewing results or notes without support (p = 0.002, 33% vs. 51% strongly agree), patients misunderstanding or misinterpreting results (p = 0.025, 44% vs. 70% strongly agree), and patients contacting the inappropriate party to discuss results (p = 0.023, 19% vs. 48% strongly agree). Agreement with the statement "patients have more knowledge/context/questions at our disclosure session due to previous results review" also differed by ordering provider status (p = 0.007). In open responses, GCs expressed concerns about patients' strong emotional reactions, patients misinterpreting results, workflow disruptions, and widening health disparities. Benefits included patients' ability to be reassured, informed, or empowered earlier; ease of sharing health information; more efficient workflow due to the automatic release of results. These results emphasize the importance of clear communication within health systems and between patients and providers.

  PublisherOA PDFDOI

• Stem cell-based embryo models: The 2021 ISSCR stem cell guidelines revisited

  Stem Cell Reports · 2025-06-01 · 21 citations

  reviewOpen access

  Human stem cell-based embryo models (SCBEMs) are a research technology with the potential to facilitate our understanding of human embryogenesis, improve assisted reproductive technology outcomes, elucidate the causes of early pregnancy failure, and provide a clearer understanding of the developmental origins of disease. Given that human SCBEMs are designed to model specific phenotypic features and developmental processes of human embryos, they raise distinct concerns from other stem cell models, such as organoids. The International Society for Stem Cell Research (ISSCR) Guidelines for Stem Cell Research and Clinical Translation, published in 2021, made recommendations for research oversight of SCBEMs and established different categories of review based on involvement of embryonic and extraembryonic lineages. However, recent progress has enabled unexpected ways to create increasingly complex models, as well as more efficient means of doing so without including all major extraembryonic lineages. A working group was tasked by the ISSCR executive to undertake a thorough reexamination of the guidelines in the light of these advances. The three main recommendations of the working group are that all research involving organized 3-dimensional human SCBEMs (1) should be subject to appropriate review, (2) must have a clear scientific rationale, and (3) must be subject to limited timelines. The proposed modifications to the ISSCR guidelines are intended to bring more clarity to the field, help guide the deliberations of researchers, oversight committees and other relevant stakeholders, and ensure continued public confidence.

  PublisherDOI

• Community engagement for artificial intelligence health research in Africa

  Wellcome Open Research · 2025-03-20 · 1 citations

  preprintOpen access

  Artificial Intelligence holds the potential to benefit communities in numerous areas, including health. Artificial intelligence health research is, among other things, advancing the accuracy of diagnosis, enabling new drug and treatment options, and reducing costs in healthcare. Like elsewhere, artificial intelligence health research is rapidly expanding across the African continent; however, numerous co-travelling ethical challenges - including those related to data protection, equitable access, and data colonization - are under-addressed. Community engagement is a process through which a number of pertinent health research ethics issues affecting communities can be identified and collaboratively pursued; however, there currently is limited understanding of the opportunities and challenges for community engagement in artificial intelligence research globally. In order to advance collective understanding and support policy and practice innovation, this paper interrogates how communities in Africa could be engaged in artificial intelligence health research. It provides a justification for community engagement in artificial intelligence health research, and discusses its application in African communities. It concludes by offering some context-specific recommendations for priority attention.

  PublisherDOI

• The Earth BioGenome Project Phase II: illuminating the eukaryotic tree of life

  Frontiers in Science · 2025-09-04 · 19 citations

  articleOpen access

  The Earth BioGenome Project (EBP) aims to "sequence life for the future of life" by generating high-quality reference genome sequences for all recognized eukaryotic species, thereby building a rich knowledge base to inform conservation, inspire bioindustry, ensure food security, advance medicine, and establish a deeper understanding of biodiversity. As the EBP works toward completing the original Phase I goal-a reference genome for each of the approximately 10,000 taxonomic families of eukaryotes-milestone publications have demonstrated the transformative potential of the project. The EBP has promoted global collaboration and established core methods and standards. By the end of 2024, EBP-affiliated projects had publicly released 2,000 high-quality genome assemblies, representing more than 500 eukaryotic families. In this article, we present a revised set of goals for Phases I and II of the EBP. For Phase II, we propose generating reference genomes for 150,000 species over 4 years, including representative genomes for at least 50% of all accepted genera and for additional species of biological and economic importance. To deliver Phase II, EBP-affiliated projects will have to release over 3,000 new genomes per month. We review the magnitude of the tasks in sourcing, sequencing, assembling, annotating, and analyzing genomes at this scale, and explore the scientific, technical, social, legal, ethical, and funding challenges associated with them. Success in Phase II will set the stage for sequencing the remaining ~1.5 million named species of Eukaryota and establishing the knowledge platforms necessary for understanding, preserving, and utilizing Earth's biodiversity in an era of rapid environmental change. Key points: The ongoing success of Phase I of the Earth Biogenome Project (EBP) demonstrates the feasibility of producing reference-quality genomes at scale, enabling the project to achieve its overarching goal: to sequence 1.67 million eukaryotic species in 10 years.Using knowledge from Phase I projects, we propose a revised strategy for Phase II: collecting specimens for 300,000 species and sequencing 150,000 species, representing at least half of the eukaryotic genera, in 4 years.Technical advances in DNA sequencing, genome assembly, and genome annotation have reduced costs and increased throughput to the point that we envisage globally distributed production of reference-quality genomes for most eukaryotic species for a total cost of about US$3.9 billion-US$800 million less than initially envisioned.Key challenges remain, including enhancing global coordination and building communities of users and interested parties; creating an inclusive, global biodiversity genomics workforce; developing effective access and benefit-sharing methodologies; facilitating collection at scale of vouchered specimens; sequencing reference genomes from single-celled and very small organisms; enhancing functional annotation; and building large-scale toolkits for comparative genomics.Technological and operational innovations, such as a "sequencing lab in a box," have the potential to radically transform the global capacity for biodiversity genome sequencing, facilitating national benefit-sharing agreements and the realization of societal impacts on Indigenous peoples and local communities.We propose the establishment of a US$0.5 billion Foundational Impact Project (FIF) fund to support the immediate use of the genome sequences in conservation, agriculture, biodiversity monitoring, biotechnology, and basic sciences, focused on supporting initiatives in the Global South.

  PublisherOA PDFDOI

• Workplace Genomic Testing: What Do Company Websites Say about Federal Privacy and Anti-Discrimination Laws?

  Public Health Genomics · 2025-05-03 · 1 citations

  articleOpen accessSenior author

  INTRODUCTION: Employees considering participation in workplace genetic and/or genomic testing (wGT) as part of workplace wellness programs should be aware of legal protections of their personal genetic information. Given the relevance of the Health Insurance Portability and Accountability Act (HIPAA) and the Genetic Information Nondiscrimination Act (GINA) for informed decision-making, employers offering wGT should ideally inform employees of these health policies prior to collecting any genetic data. It is unclear, however, whether and to what extent such information is being provided. Company websites provide one important resource for making employees - and the public at large - aware of important health policies governing workplace wellness programs in general, and wGT services in particular. METHOD: We systematically reviewed the websites of 420 companies (including 140 privately held companies from the 2019 Forbes list of largest privately held companies, 140 publicly held companies from the 2019 Forbes list of largest publicly held companies, 104 hospitals/hospital systems, and 36 companies that had evidence that they offer/have offered wGT) offering wGT services to determine if they included reference to HIPAA and GINA. RESULTS: Our search for wGT programs on company websites found that 50 of 420 companies had evidence of offering wGT. We found 32/50 (64%) mentions of HIPAA and no mentions of GINA. CONCLUSIONS: It is imperative that HIPAA and GINA are upheld by both vendors and employers. Accessible and understandable information on these policies is needed for employees to analyze the benefits and risks of participating in wGT.

  PublisherOA PDFDOI

• Genetic counselors’ perspectives and experiences with workplace genetic testing: Results of a national survey

  Genetics in Medicine Open · 2025-12-11

  articleOpen access

  Purpose: Workplace genetic testing (wGT) is a wellness benefit offered to employees, providing a new access point for genetic testing. Although genetic counseling is not typically required in wGT, genetic counselors (GCs) play a key role in integrating genetic testing into health care and may interact with wGT in industry, laboratory, or clinical settings. Methods: To ascertain US GCs' perspectives and experiences with wGT, we administered a web-based survey, targeting GCs most likely to have professional experience with wGT. Descriptive statistics were used to characterize responses. Results: = 331 participants (mean age = 36, >80% White female), 27.0% reported having professional experience with wGT. Over half (62.4%) were open to providing counseling on wGT. Most (92.7%) expected wGT to increase genetic testing access, especially for those not meeting clinical criteria (94.8%), but 59.4% expected wGT to increase genetic discrimination. The majority (69.2%) agreed employers should be permitted to offer wGT but disagreed with employers selling (90.9%) and accessing (68.3%) employees' aggregate data. Conclusion: GC participants demonstrated qualified support for wGT and favored limited employer access to, and use of, employees' wGT data. As genetic testing avenues expand, these findings can inform the effective implementation of wGT and testing in nonclinical settings.

  PublisherDOI

• Build-A-Genome and the “awesome power of undergraduates”

  Genetics · 2024-07-10

  articleOpen access

  Abstract The Elizabeth W. Jones Award for Excellence in Education recognizes individuals or groups who have had significant, sustained impact on genetics education at any level, from K-12 through graduate school and beyond. The 2024 Elizabeth W. Jones Award for Excellence in Education recipient Jef Boeke considers himself a geneticist turned engineer. He transformed his landmark synthetic yeast genome project into a research-heavy teaching course, revolutionizing molecular biology and genetics education. The Build-A-Genome course was developed to teach students basic practical molecular genetics while also providing the raw materials for a global genome synthesis project, Yeast 2.0. The course evolved over two decades to reflect the changing needs and opportunities for the project and the development of new technologies. In addition to educating a generation of college and high school students in a new way, it also developed a cadre of educators who developed similar courses and projects at a wide variety of research and educational institutions.

  PublisherDOI

• Participant Contributions to Person-Generated Health Data Research Using Mobile Devices: Scoping Review

  Journal of Medical Internet Research · 2024-09-27 · 2 citations

  reviewOpen access

  BACKGROUND: Mobile devices offer an emerging opportunity for research participants to contribute person-generated health data (PGHD). There is little guidance, however, on how to best report findings from studies leveraging those data. Thus, there is a need to characterize current reporting practices so as to better understand the potential implications for producing reproducible results. OBJECTIVE: The primary objective of this scoping review was to characterize publications' reporting practices for research that collects PGHD using mobile devices. METHODS: We comprehensively searched PubMed and screened the results. Qualifying publications were classified according to 6 dimensions-1 covering key bibliographic details (for all articles) and 5 covering reporting criteria considered necessary for reproducible and responsible research (ie, "participant," "data," "device," "study," and "ethics," for original research). For each of the 5 reporting dimensions, we also assessed reporting completeness. RESULTS: Out of 3602 publications screened, 100 were included in this review. We observed a rapid increase in all publications from 2016 to 2021, with the largest contribution from US authors, with 1 exception, review articles. Few original research publications used crowdsourcing platforms (7%, 3/45). Among the original research publications that reported device ownership, most (75%, 21/28) reported using participant-owned devices for data collection (ie, a Bring-Your-Own-Device [BYOD] strategy). A significant deficiency in reporting completeness was observed for the "data" and "ethics" dimensions (5 reporting factors were missing in over half of the research publications). Reporting completeness for data ownership and participants' access to data after contribution worsened over time. CONCLUSIONS: Our work depicts the reporting practices in publications about research involving PGHD from mobile devices. We found that very few papers reported crowdsourcing platforms for data collection. BYOD strategies are increasingly popular; this creates an opportunity for improved mechanisms to transfer data from device owners to researchers on crowdsourcing platforms. Given substantial reporting deficiencies, we recommend reaching a consensus on best practices for research collecting PGHD from mobile devices. Drawing from the 5 reporting dimensions in this scoping review, we share our recommendations and justifications for 9 items. These items require improved reporting to enhance data representativeness and quality and empower participants.

  PublisherDOI

• Navigating the Impact of the 21st Century Cures Act Final Rule: A National Cross-Sectional Survey of U.S. Genetic Counselors

  medRxiv · 2024-10-15

  preprintOpen accessSenior author

  Abstract The 21 st Century Cures Act Final Rule (Final Rule) increases patient access to their health records but raises concerns about distress and misunderstanding of automatically released results and documentation. Little is known about genetic counselors’ (GCs’) experiences with the Final Rule. In Fall 2023, we conducted a cross-sectional survey of U.S. GCs about the Final Rule’s perceived impact on practice and assessed if being the ordering versus non-ordering provider for genetic testing affected perceptions of Final Rule-related changes. GCs (n=102) reported demographic and workplace characteristics, institutional policy changes, workflow changes, and perceived patient harms and benefits due to the Final Rule. To compare ordering and non-ordering providers, we conducted Fisher’s exact tests for categorical variables and trend tests for ordinal variables. Open response questions elicited examples of positive and negative patient impacts, the effects of patient characteristics, and practice changes in response to the Final Rule. Twenty-seven GCs were ordering providers and 66 were non-ordering providers. Relative to ordering providers, non-ordering providers expressed stronger agreement with statements indicating concern about the emotional impact on patients reviewing results or notes without support (P=0.002, 33% vs. 51% strongly agree), patients misunderstanding or misinterpreting results (P=0.025, 44% vs. 70% strongly agree), and patients contacting the inappropriate party to discuss results (P=0.023, 19% vs. 48% strongly agree). Agreement with the statement “patients have more knowledge/context/questions at our disclosure session due to previous results review” also differed by ordering provider status (P=0.007). In open responses, GCs expressed concerns about patients’ strong emotional reactions, patients misinterpreting results, workflow disruptions, and widening health disparities. Benefits included patients’ ability to be reassured, informed, or empowered earlier; ease of sharing health information; and more efficient workflow due to automatic release of results. These results emphasize the importance of clear communication within health systems and between patients and providers. What is known about this topic The 21 Century Cures Act Final Rule (Final Rule) increases patients’ access to their health records, including automatically released results and clinical documentation. In prior studies, physicians and physician-led care team members recognize potential benefits for patient empowerment and potential harms due to information overload and misunderstanding, but little is known about mid-level providers’ perspectives, including genetic counselors. What this paper adds to the topic In a national survey, U.S. genetic counselors expressed worries about direct release of genetic test results, including concerns about patients’ emotional responses, risks related to misinterpretation of results and next steps, and the impact on their workflow. The study offers suggestions on how GCs can navigate changes imposed by the Final Rule.

  PublisherOA PDFDOI

• Blurring Boundaries: A Proposed Research Agenda for Ethical, Legal, Social, and Historical Studies at the Intersection of Infectious and Genetic Disease

  The Journal of Law Medicine & Ethics · 2024-01-01

  articleOpen accessSenior author

  Contemporary understanding of the mechanisms of disease increasingly points to examples of "genetic diseases" with an infectious component and of "infectious diseases" with a genetic component. Such blurred boundaries generate ethical, legal, and social issues and highlight historical contexts that must be examined when incorporating host genomic information into the prevention, outbreak control, and treatment of infectious diseases.

  PublisherOA PDFDOI

Recent grants

• NIH Grant R13MH081769

  NIH · $50k · 2009

• Families At Risk: Long-term Impact of Huntington's Presymptomatic Genetic Testi

  NIH · $1.5M · 2014–2021

Frequent coauthors

• Jeremy Sugarman

  95 shared

• Juli Bollinger

  Johns Hopkins University

  79 shared

• Gail Geller

  Johns Hopkins Medicine

  74 shared

• Jeffrey Kahn

  57 shared

• Elizabeth May

  38 shared

• Alan Regenberg

  33 shared

• Ruth Faden

  Johns Hopkins University

  31 shared

• Allison F. McCague

  Johns Hopkins Berman Institute of Bioethics

  30 shared

Education

• Postdoctoral Fellowship, Bioethics and Health Policy

  Johns Hopkins University

  2004

• PhD, Genetics

  Case Western Reserve University

  2002

• MA, Bioethics

  Case Western Reserve University

  2000

• Bachelor of Science, Biology

  Pennsylvania State University

  1997

Awards & honors

• Greenwall Fellowship in Bioethics and Health Policy at Johns…
• President of the International Neuroethics Society