Mary Majumder Lab

As wastewater research and monitoring programs develop and evolve beyond SARS-CoV-2 to a wide range of possible pathogens (viruses, bacteria, and protozoa), one critical challenge is determining what information ought to be shared, with whom, and how.

Wastewater research and monitoring can provide early warning of the spread of known diseases of public health importance and inform public health responses, but it can also provide highly sensitive and potentially stigmatizing information, raising ethical, legal, and social implication (ELSI) considerations, including how to communicate information in a way that maximizes benefits and builds public trust while protecting privacy and avoiding the exacerbation of health inequities. EMPOWER is an innovative embedded ELSI research project that will directly impact the development and implementation of strategies for communicating information from a statewide wastewater research and monitoring program in Texas. This project will collect critical empirical data from stakeholders and engage diverse members of the community to identify and develop strategies to address the ELSI considerations of communicating information from public health research.

The objective of EMPOWER is to develop a strategy for responsible reporting of information from wastewater monitoring in the state of Texas that is feasible and reflects community members’ values and perspectives. We will collaborate with the Texas Epidemic Public Health Institute (TEPHI) Wastewater Consortium (TWC) and its Action Plan Working Group to achieve the following specific aims:

• In Aim 1, we will identify facilitators and barriers to results disclosure by conducting embedded ELSI research (participant observation) and interviews with the TEPHI Action Plan Working Group members and other stakeholders involved in the TWC.
• In Aim 2, we will assess community members’ perspectives about results disclosures by conducting community engagement studios across Texas and a statewide survey.
• In Aim 3, we will generate evidence-based recommendations for results disclosure and develop a communication platform for community members’ review and feedback.

Our overarching goal is to develop ethical guidelines for the dissemination of results from wastewater research and monitoring programs.

Supported by: R01ES036232, Grant funding from National Institutes of Health, National Institute of Environmental Health Science, Office of the Director, National Human Genome Research Institute

Project Personnel

Amy McGuire – mPI

Jennifer Deegan – mPI, UTHealth Houston

Faith Fletcher – Co-I

Christi Guerrini – Co-I

Mary Majumder – Co-I

Rosalia Guerrero – Community health worker, UTHealth Houston

Norah Crossnohere – Consultant, patient-centered outcomes researcher, Ohio State University

Shannon-Claire Barnes, Clinical research associate

Jill Robinson – Research manager

Eric Boerwinkle – Advisory committee chair, UTHealth Houston

Anthony Maresso – Advisory committee member

Cheryl Walker – Advisory committee member

The NIH BRAIN Initiative has been ongoing since 2013. The Initiative “is aimed at revolutionizing our understanding of the human brain” through the “development and application of innovative technologies” to deepen our understandings of how the brain and neural circuits interact in health and disease (The BRAIN Initiative, NIH, 2021).

Data sharing is essential to promote equity and maximize the impact of the significant public investment in the BRAIN Initiative. Data sharing plans are now required for BRAIN funding, but there is an urgent need to develop specific policies and practices that are empirically informed and address ethical challenges and concerns related to sharing human data from BRAIN research. Our own experience and research with investigators conducting BRAIN Initiative studies of closed loop or adaptive deep brain stimulation, for instance, suggests that the practice of sharing data is inconsistent and incomplete, despite broad agreement that it is important. Some ethical challenges relate to privacy, consent, the interoperability of data types and sharing platforms, and competing commercial and processional interests.

The specific objectives of BRAINshare: Sharing Data in BRAIN Initiative Studies are to engage key stakeholders in a deliberative process to identify challenges and concerns specific to sharing human data from the BRAIN Initiative and to generate empirically informed policy and practice options to facilitate responsible sharing of this data.

• In Aim 1, we will use informational interviews and document analysis to identify BRAIN Initiative-specific data-sharing challenges, as well as relevant policy and practice considerations.
• In Aim 2, we will use semi-structured interviews and surveys to evaluate BRAIN Initiative research participants’ attitudes, preferences, and concerns about data sharing and brain privacy.
• In Aim 3, we will employ a modified policy Delphi process with diverse stakeholders to prioritize challenges and generate and evaluate policy and practice options that address high-priority challenges.
   

The long-term goals of this research program are to develop, test, and disseminate strategies to improve data sharing in biomedical research associated with human neuroscience. The overall objective of this project is to apply our combined expertise in neuroscience, neuroethics, social science, law, and science policy to identify challenges and concerns and generate empirically informed policy and practice options that facilitate responsible data sharing within the NIH BRAIN Initiative.

Supported by: R01MH126937, Grant funding from BRAIN Initiative - National Institute of Mental Health of the National Institutes of Health

Presentations

Sharing Data: Speedbumps on the Translation Trail. ELSIcon2022: Innovating for a Just and Equitable Future. Cook-Deegan R, Maxson Jones K, Rahimzadeh V, Spector-Bagdady K (2022).

The Montreal Neurological Institute: A case study in “open” neuroscience. The BRAIN Initiative Meeting. Skvarkova Z, Maxson Jones K, Robinson J, McGuire A, Sheth S, Cook-Deegan R (2022).

Paving the Way to a More Interconnected Community of BRAINs. The BRAIN Initiative Meeting. Iyer S, Maxson Jones K, Robinson J, Cook-Deegan R, Guerrini C, Lázaro-Muñoz G, Majumder M, Sheth S, McGuire A (2022).

BRAINshare: Sharing Data in BRAIN Initiative Studies. The BRAIN Initiative Meeting. Maxson Jones K, Robinson J, Cook-Deegan R, Guerrini C, Lázaro-Muñoz G, Majumder M, Sheth S, McGuire A (2022).

Data Sharing Challenges in Academic-Industry Collaborations in the BRAIN Initiative. The BRAIN Initiative Meeting. Noor I, Maxson Jones K, Robinson J, Cook-Deegan R, Guerrini C, Lázaro-Muñoz G, Majumder M, Sheth S, McGuire A (2022).

Publications

Rahimzadeh V, Jones KM, Majumder MA, et al. Benefits of sharing neurophysiology data from the BRAIN Initiative Research Opportunities in Humans Consortium [published online ahead of print, 2023 Nov 3]. Neuron. 2023;S0896-6273(23)00717-1. doi:10.1016/j.neuron.2023.09.029 

Supplement: A Case Study on Autism in Data Sharing Practices 

Project Description

This one-year supplement project aims to conduct a case study on ethical data sharing challenges in autism research and how to address data sharing practices that lack diversity, equity, and inclusion considerations. Data will be collected through a literature review and in-depth interviews with diverse stakeholders to explore challenges and potential solutions to address such ethical and policy challenges in data sharing. This case study will serve as an additional research input that informs the ongoing Delphi process in the BRAINshare Project’s Aim 3 and shapes the Project’s broader policy recommendations.  

Supported by: R01MH126937-03S1, National Institute of Mental Health, NIH, Research Supplement to Promote Diversity in Health-Related Research Program

Project team: Zuzana Skvarkova (Arizona State University), Robert Cook-Deegan (Arizona State University, co-mentor) and Amy McGuire (co-mentor)  

Evaluating utility and improving implementation of genomic sequencing for pediatric cancer patients in the diverse population and healthcare settings of Texas

Building on the previous success of the BASIC3 study, over four years, KidsCanSeq enrolled 627 pediatric patients and their parents at several diverse healthcare setting across Texas. The diverse settings of the study allowed us to evaluate our novel, culturally sensitive approaches to the informed consent process – including informational videos in English and Spanish - and return of results that includes communicating complex genomic information to families and physicians.

Supported by: U01HG006485, National Human Genome Research Institute, National Cancer Institute, NIH

Building on the previous success of the BASIC3 study, over four years, KidsCanSeq is enrolling 1100 pediatric patients and their patients at several diverse healthcare setting across Texas. The diverse settings of the study allow us to evaluate our novel, culturally sensitive approaches to the informed consent process – including informational videos in English and Spanish - and return of results that includes communicating complex genomic information to families and physicians.

We are exploring utility from a broad range of perspectives including:

• Clinical utility of the ES testing to impact treatment decisions, and the impact of germline diagnostic and/or actionable findings on surveillance and testing recommendations for family members.
• Parents' perceived utility, including clinical and personal utility of the ES information.
• Oncologists' perceived and actual utility of the ES information.
   

Parents complete longitudinal surveys to assess their perceived utility of and feelings about their child’s genomic results. At follow-up, parents also provide information about whether other family members followed up on any testing and surveillance recommendations, as well as barriers to doing so. Oncologists enrolled in the study complete multiple surveys to assess the clinical utility of genomic testing and its effect on treatment decisions, as well as their perceived utility of the information.

Supported by: U01HG006485, National Human Genome Research Institute and National Cancer Institute, NIH

Supplement Project: Measuring Perceptions of Utility of Clinical Genome Sequencing: Instrument Development and Validation

A major goal of the CSER consortium is to generate evidence regarding the utility of genomic sequencing (GS). Specifically, the aim is to understand what clinical utility (e.g., impact on diagnosis, treatment, and management) and other dimensions of utility beyond those captured in medical records (e.g., psychological and pragmatic utility) clinicians, patients, families and society experience with GS information. We are developing a survey instrument to assess patients' and families' perceived utility using a rigorous methodological approach in order to generate comprehensive evidence of the broad dimensions of utility of GS. To develop this survey instrument, we are:

Developing a typology of how different stakeholders define utility through a systematic literature review. Conducting interviews with adult patients and parents of pediatric patients who received GS across diverse clinical settings that comprise the CSER consortium studies (n=60, 10 at each of 6 sites). Triangulating data from the typology and interviews to develop a comprehensive conceptual model of the relevant dimensions of perceived patient utility. This model will guide the generation of an item pool for survey instrument development that will be refined and pilot tested according to established practices for measuring patient-reported outcomes and instrument development.

Supported by: U01HG006485-S1, National Human Genome Research Institute, NIH

Publications

Gutierrez AM, Robinson JO, Raesz-Martinez R, Canfield I, Majumder MA, Scollon S, Desrosiers LR, Hsu RL, Allen-Rhoades W, Parsons DW, Plon SE, McGuire AL, Malek J. Views of Adolescents and Young Adults with Cancer and Their Oncologists Toward Patients' Participation in Genomic Research. J Adolesc Young Adult Oncol. 2023 Oct;12(5):773-781. doi: 10.1089/jayao.2022.0066. Epub 2023 Jan 2. PMID: 36595372; PMCID: PMC10611971.

Muenzen KD, Amendola LM, Kauffman TL, Mittendorf KF, Bensen JT, Chen F, Green R, Powell BC, Kvale M, Angelo F, Farnan L, Fullerton SM, Robinson JO, Li T, Murali P, Lawlor JMJ, Ou J, Hindorff LA, Jarvik GP, Crosslin DR. Lessons learned and recommendations for data coordination in collaborative research: The CSER consortium experience. HGG Adv. 2022 May 20;3(3):100120. doi: 10.1016/j.xhgg.2022.100120. PMID: 35707062; PMCID: PMC9190054.

Kraft SA, Russell H, Bensen JT, Bonini KE, Robinson JO, Sahin-Hodoglugil N, Renna K, Hindorff LA, Kaufman D, Horowitz CR, Waltz M, Zepp JM, Knight SJ. Conducting clinical genomics research during the COVID-19 pandemic: Lessons learned from the CSER consortium experience. Am J Med Genet A. 2022 Nov 7. doi: 10.1002/ajmg.a.63033. Epub ahead of print. PMID: 36341765. 

Goddard KAB, Angelo FAN, Ackerman SL, et al. Lessons learned about harmonizing survey measures for the CSER consortium. Journal of Clinical and Translational Science. 2020;4(6):537-546. doi:10.1017/cts.2020.41.

Smith HS, Brothers KB, Knight SJ, Ackerman SL, Rini C, Veenstra DL, McGuire AL, Wilfond BS, Malek J. Conceptualization of utility in translational clinical genomics research. Am J Hum Genet. 2021 Nov 4;108(11):2027-2036. doi: 10.1016/j.ajhg.2021.08.013. Epub 2021 Oct 22. PMID: 34687653; PMCID: PMC8595895.

Plon, Sharon et al. Physician recommendations after germline sequencing in pediatric cancer patients: Texas KidsCanSeq study, Genetics in Medicine, 2022. Volume 24, Issue 3, S344.

Gutierrez AM, Robinson JO, Outram SM, Smith HS, Kraft SA, Donohue KE, Biesecker BB, Brothers KB, Chen F, Hailu B, Hindorff LA, Hoban H, Hsu RL, Knight SJ, Koenig BA, Lewis KL, Lich KH, O’Daniel JM, Sasaki SO, Tomlinson GE, Waltz M, Wilfond BS, Ackerman SL, Majumder MA. Examining Access to Care in Clinical Genomic Research and Medicine: Experiences from the CSER Consortium. Journal of Clinical and Translational Science. Epub ahead of print; 2021.

Smith HS, Morain SR, Robinson JO, Canfield I, Malek J, Rubanovich CK, Bloss CS, Ackerman SL, Biesecker B, Brothers KB, Goytia CN, Horowitz CR, Knight SJ, Koenig B, Kraft SA, Outram S, Rini C, Shipman KJ, Waltz M, Wilfond B, McGuire AL. Perceived Utility of Genomic Sequencing: Qualitative Analysis and Synthesis of a Conceptual Model to Inform Patient-Centered Instrument Development. The Patient. Epub ahead of print; 2021.

Lindberg NM, Gutierrez AM, Mittendorf KF, Ramos M, Anguiano B, Angelo F, Joseph G. Challenges and Lessons Learned in Creating Accessible Study Materials for Spanish-speaking Participants in CSER Consortium Projects. Personalized Medicine. 2021 Aug; 18(5).

Horowitz CR, Orlando LA, Slavotinek AM, Peterson J, Angelo F, Biesecker B, Bonham VL, Cameron LD, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hindorff LA, Jarvik GP, Kaufman D, Kenny EE, Knight SJ, Koenig BA, Korf BR, Madden E, McGuire AL, Ou J, Wasserstein MP, Robinson M, Leventhal H, Sanderson SC. The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research. Am J Hum Genet. 2019 Jun 6;104(6):1088-1096. doi: 10.1016/j.ajhg.2019.04.006. Epub 2019 May 16.

Robinson JO, Wynn J, Biesecker B, Biesecker L, Bernhardt B, Brothers KB, Chung WK, Christensen KD, Green RC, Kaufman D, McGuire AL, Hart MR, Griesemer I, Patrick DL, Rini C, Veenstra D, Cronin AM, Gray SW. Psychological Outcomes Related to Exome and Genome Sequencing Result Disclosure: A Meta-Analysis of Seven Clinical Sequencing Exploratory Research (CSER) Consortium Studies. Genetics in Medicine 2019.

Amendola, L.M., Berg, J.S., Horowitz, C.R., Angelo, F., Bensen, J.T., Biesecker, B.B., Biesecker, L.G., Cooper, G.M., East, K., Filipski, K. and Fullerton, S.M., 2018. The clinical sequencing evidence-generating research consortium: integrating genomic sequencing in diverse and medically underserved populations. The American Journal of Human Genetics, 103(3), pp.319-327.

Presentations

Malek J, Robinson J,  Smith HS, Gutierrez A, Classen S,  Scollon S, Parsons DW, Plon S, McGuire A. How useful is genome sequencing to parents of pediatric cancer patients? Findings from the Texas KidsCanSeqStudy. ELSIcon2022: Innovating for a Just and Equitable Future. (2022).

Gutierrez A, Robinson J, Recinos A, Desrosiers L, Majumder M, Scollon S. Families’ experiences accessing follow-up care after receiving significant germline results through a pediatric cancer research study. ELSIcon2022: Innovating for a Just and Equitable Future. (2022).

Gutierrez AM, Robinson JO, Scollon S, Majumder MA, Street RL, Parsons DW, Plon SE, McGuire AL. “Spanish-preferring parents' perceptions of and satisfaction with communication in a pediatric cancer genomic setting.” American Public Health Association Annual Meeting. October 23-27, 2021.

Gutierrez AM, Robinson JO, Scollon S, Majumder MA, Street RL, Parsons DW, Plon SE, McGuire AL. “Perspectives and preferences of adolescent and young adult cancer patients related to their participation in genomic research.” American Society for Bioethics and Humanities Annual Conference. October 13-16, 2021.

Malek J, Robinson JO, Gutierrez AM, Wang T, Smith HS, Raesz-Martinez R, Scollon S, Recinos A, Majumder MA, Parsons DW, Plon SE, McGuire AL. Great Expectations: Parents’ Perceptions of Genomic Sequencing in Pediatric Cancer Patients. American Society for Bioethics and Humanities Annual Conference. October 13-16, 2021.

Malek J, Smith H, Islam R, Robinson JO, Hsu RL, Canfield I, Raesz-Martinez R, Recinos A, Scollon S, Majumder MA, Parsons DW, Plon SE, McGuire AL. Parents’ Expected Utility of Genomic Sequencing for Pediatric Cancer Patients in the Texas KidsCanSeq Study. American College of Medicine Genetics. March 17-21, 2020.

McGuire AL (Moderator), Malek J, Smith H, Brothers Kyle. Utility of Genomic Testing: A Multidisciplinary Perspective. American Society for Bioethics and Humanities Annual Meeting. Pittsburgh, PA, US. October 24-27, 2019. Accepted as panel presentation

Gutierrez AM, Robinson JO, Malek J, Majumder M, Street RL, Parsons DW, Plon SE, McGuire AL. Implications and considerations for engaging diverse participant populations in genome research: Emerging lessons from the Texas KidsCanSeq Study. American Public Health Association Annual Meeting. Philadelphia, PA, US. November 2-6, 2019. Accepted as poster presentation.

Plon S, Amendola L, Horowitz C, Joseph G. Addressing Literacy and Language to Equitably Deliver on the Promise of Precision Medicine. American College of Medical Genetics Annual Meeting. April 2-6, 2019. Workshop.

Gutierrez AM, Robinson JO, Hsu RL, Petersen DK, Malek J, Majumder MA, Street RL, Parsons DW, Plon SE, McGuire AL. The Texas KidsCanSeq Study: Enrolling Diverse Patient Populations into Genome Research. American Society for Bioethics and Humanities Annual Meeting. Anaheim, CA, US. October 18-21, 2018. Oral presentation.

John Sulston, the projects namesake, was a champion of sharing scientific data to improve science and inform clinical decisions. Fittingly, he helped establish the 1996 Bermuda Principles with goals of rapid, electronic sharing of data generated by the Human Genome Project to benefit science and society. Today, sharing of genomic data has become more commonplace and yet still incredibly challenging to do.

Despite a growing norm of open science, concerns about proprietary rights remain a barrier to collecting and sharing data on a large scale for research and clinical use for all inherited cancer variants, or what could be called a cancer genomic variant commons. As more efforts to create cancer genomic variant commons that provide open access to data pooled from multiple sources are underway, such as the National Cancer Institute Genomic Data Commons, policies are evolving that could become a model for genomic data sharing more generally.

The overarching goal of the Sulston Project is to develop empirically-informed policy options to address the challenges of the nascent cancer genomic variant commons. We will engage relevant stakeholders to accomplish this work and inform policy in a way that balances proprietary and commercial interests with the generation of a public good -- information and knowledge about cancer-risk variants -- for public health benefit.

We aim to:

• Describe data sharing structures and practices for inherited cancer-risk variants.
• Identify the challenges of developing a sustainable commons for inherited cancer-risk variants.
• Formulate policy options to address the most important challenges identified, and map policy options to institutions and actors who can act on them.
• Translate findings and policy options by engaging with policy-makers and other actors.

Supported by: R01CA237118, National Cancer Institute, NIH, 2019 - 2023

Additional Project Information

Read more about our related work by visiting the webpage for two related studies: the PoliSeq project (McGuire R01 HG006460) examined the clinical integration of next generation sequencing technologies using a modified policy Delphi process, and Building the Medical Information Commons (McGuire R01 HG008918) examined issues confronted in fulfilling the aspirations of the 2011 NASEM report on Precision Medicine, which called for the creation of medical information commons.

Visit the Sulston Project website for more information.

Follow us on Twitter and Facebook for updates about this and other projects.

Publications

Robinson JO, Daoud A, Geary J, et al. Policy options to facilitate cancer genomic variant data sharing: outcomes of a modified policy Delphi. J Law Biosci. 2023;10(2):lsad022. Published 2023 Jul 14. doi:10.1093/jlb/lsad022  

Deverka P, Geary J, Mathews C, et al. Payer reimbursement practices and incentives for improving interpretation of germline genetic testing. J Law Biosci. 2023;10(2):lsad020. Published 2023 Jul 9. doi:10.1093/jlb/lsad020 

Majumder MA, Blank ML, Geary J, Bollinger JM, Guerrini CJ, Robinson JO, Canfield I, Cook-Deegan R, McGuire AL. Challenges to Building a Gene Variant Commons to Assess Hereditary Cancer Risk: Results of a Modified Policy Delphi Panel Deliberation. Journal of Personalized Medicine. 2021 Jul 8;11(7):646.

Presentations

Fresh Air for Genetic Data Sharing. ELSIcon2022: Innovating for a Just and Equitable Future. Guerrini C, McGuire A, Robinson J, Blank M, Cook-Deegan R, Bollinger J, Geary J, Majumder M (2022).

Majumder MA, Gutierrez AM, Geary J, McGuire AL. “Equity considerations, challenges, and policy options for creating an effective knowledge commons for hereditary cancer risk.” American Society for Bioethics and Humanities Annual Conference. October 13-16, 2021. Panel presentation.

Supplement Project: A Case Study on Latinx Community Perspectives about Creating a Cancer Genomic Variant Commons

This qualitative case study is a Sulston supplement project that aims to explore the experiences of Hispanic/Latino communities in the U.S. with genetic testing for hereditary cancer risk. To do this, we are conducting 60 interviews across the U.S. with three stakeholder groups: genetics experts, patient advocates, and patients/members of the community. Through these stakeholder interviews, we will identify challenges and potential policy options related to improving access to genetic testing among Hispanic/Latino groups, with special attention to the heterogeneity of the US Hispanic/Latino population. This study includes a focus on policy translation, where we will communicate our empirical findings and policy implications to stakeholders, policymakers, and the scientific community. This project complements the goals of the Sulston Project by helping propose policy options for more effective inclusion of underserved groups in a cancer genomic variant commons.

Supported by: R01CA237118-S1, National Cancer Institute, NIH

Publication

Gutierrez AM, McGuire AL, Cook-Deegan R. “Disparities in access to genetic testing for hereditary cancer risk among Hispanic/Latino populations: Stakeholders’ views of barriers and potential solutions.” American Public Health Association Annual Meeting. October 23-27, 2021. Poster presentation.

Many national and international public and private initiatives are forming to collect and share data on a large scale for research and clinical use. Collectively, these efforts may lead to the creation of a medical information commons.

Through this project, we aimed to inform policy decisions about effective governance for data sharing, and ensure that the values, rights and interests of individuals whose data may populate the information commons are represented. Specifically we aimed to:

• Identify and analyze existing models for collecting diverse sources of data into a medical information commons to enable large scale research and clinical application
• Evaluate the effectiveness of existing models and develop new approaches to address key policy issues from the perspective of expert stakeholders
• Solicit informed public input on existing models and innovative approaches from individuals whose data may populate a medical information commons.
• Describe incentives to share BRCA variant data and obstacles hindering the sharing of those data, and incorporate BRCA previvors and survivors into the governance and oversight structures for the emergent BRCA data commons.

Over the past four years, we carried out the following:

• A landscape analysis of existing data-sharing efforts
• In-depth interviews with multiple stakeholders from various sectors (e.g., academia, government, and private industry)
• Deliberative sessions with members of the public at three U.S. cities
• In-person meetings with a multidisciplinary external advisory committee

Supported by: DI-2017C2-7726, Patient-Centered Outcomes Research Institute

Special Issue in the Journal of Law, Medicine & Ethics

Where scientists and ethicists look to address and propose solutions to many of the questions that surround medical data sharing.

Learn More

Publications

Bollinger JM, Sanka A, Dolman L, Liao RG, Cook-Deegan R. BRCA1/2 Variant Data-Sharing Practices. J Law Med Ethics. 2019;47(1):88-96. doi:10.1177/1073110519840487

Deverka PA, Gilmore D, Richmond J, et al. Hopeful and Concerned: Public Input on Building a Trustworthy Medical Information Commons. J Law Med Ethics. 2019;47(1):70-87. doi:10.1177/1073110519840486

McGuire AL, Roberts J, Aas S, Evans BJ. Who Owns the Data in a Medical Information Commons? J Law Med Ethics. 2019;47(1):62-69. doi:10.1177/1073110519840485

Majumder MA, Bollinger JM, Villanueva AG, Deverka PA, Koenig BA. The Role of Participants in a Medical Information Commons. J Law Med Ethics. 2019;47(1):51-61. doi:10.1177/1073110519840484

Bollinger JM, Zuk PD, Majumder MA, et al. What is a Medical Information Commons? J Law Med Ethics. 2019;47(1):41-50. doi:10.1177/1073110519840483

Villanueva AG, Cook-Deegan R, Robinson JO, McGuire AL, Majumder MA. Genomic Data-Sharing Practices. J Law Med Ethics. 2019;47(1):31-40. doi:10.1177/1073110519840482

Villanueva AG, Cook-Deegan R, Koenig BA, et al. Characterizing the Biomedical Data-Sharing Landscape. J Law Med Ethics. 2019;47(1):21-30. doi:10.1177/1073110519840481

McGuire AL, Majumder MA, Villanueva AG, et al. Importance of Participant-Centricity and Trust for a Sustainable Medical Information Commons. J Law Med Ethics. 2019;47(1):12-20. doi:10.1177/1073110519840480

Cook-Deegan R, Majumder MA, McGuire AL. Introduction: Sharing Data in a Medical Information Commons - Robert Cook-Deegan, Mary A. Majumder, Amy L. McGuire, 2019. The Journal of Law, Medicine & Ethics. 2019;47(1):7-11.

Majumder MA, Zuk PD, McGuire AL. Medical Information Commons. In: Hudson B, Rosenbloom J, Cole D, eds. Routledge Handbook of the Study of the Commons. 1st ed. 

Deverka PA, Majumder MA, Villanueva AG, et al. Creating a data resource: what will it take to build a medical information commons? Genome Med. 2017;9(1):84. doi:10.1186/s13073-017-0476-3

Majumder MA, Guerrini CJ, Bollinger JM, Cook-Deegan R, McGuire AL. Sharing data under the 21st Century Cures Act. Genet Med Off J Am Coll Med Genet. May 2017. doi:10.1038/gim.2017.59

Cook-Deegan R, McGuire AL. Moving beyond Bermuda: sharing data to build a medical information commons. Genome Res. 2017;27(6):897-901. doi:10.1101/gr.216911.116

Majumder MA, Cook-Deegan R, McGuire AL. Beyond Our Borders? Public Resistance to Global Genomic Data Sharing. PLoS Biol. 2016;14(11):e2000206. doi:10.1371/journal.pbio.2000206

Presentations

Majumder MA. Back to the Future: A Snapshot of Current Genomic Data-Sharing Practices. Presented at the: American Society for Bioethics and Humanities Annual Conference; October 2018; Anaheim, CA.

Majumder MA. What Role for Participants? Views of Expert Stakeholders Influencing Data-Sharing Policies and Practices. Presented at the: American Society for Bioethics and Humanities Annual Conference; October 2017; Kansas City, MO.

Villanueva AG. The Challenges of Collecting and Sharing Environmental Data in the Current Genomics Era. Poster presented at the: American Society for Bioethics and Humanities Annual Conference; October 2017; Kansas City, MO.

Villanueva AG. Hashtag Who's Missing? Lessons for Participant-Centric and Pediatric Genomic Databases. Presented at the: ELSI Congress; June 2017; Farmington, CT.

McGuire AL. What Does it Mean to Own the Data in a Medical Information Commons? Presented at the: ELSI Congress; June 2017; Farmington, CT.

Villanueva AG. The Data Ecosystem: Current Data-Sharing Policies and Practices. Presented at the: ELSI Congress; June 2017; Farmington, CT.

Majumder MA. Big data sharing in precision medicine. Presented at the: World precision Medicine Congress; May 2017; London, UK.

Majumder MA, Garrison NA, Bonham V, Villanueva AG. Critical Distance in ELSI Genomics Research - More Than Advocacy for the "All-Frills Yuppie Health Care Boutique"? Presented at the: American Society for Bioethics and Humanities Annual Conference; October 2016; Washington, DC.

McGuire AL, Goldstein MM, Rodriguez LL, O'Donnell CJ. Building a Medical Information Commons: Ethical, Policy and Practical Challenges. Presented at the: American Society for Bioethics and Humanities Annual Conference; October 2016; Washington, DC.

Villanueva AG, McGuire AL, Majumder MA. Genes and the Environment: Current Data Collection, Sharing and Privacy Protection Practices. Poster presented at the: American Public Health Association's Annual Meeting; November 2016; Denver, CO.

McGuire AL. Building the Medical Information Commons: Data Sharing Ethics and Policy. Human Genome Meeting; 2016; Houston, TX.

Enabling Personalized Medicine through Exome Sequencing in the U.S. Air Force (the MilSeq Project) is a pilot study examining the process of incorporating genome sequencing (GS) into the United States Air Force (USAF) military health system. Active-duty service members of the USAF (Airmen) are enrolled into the study to undergo GS. Results are returned directly to Airmen by military healthcare providers who are also study participants, and are placed in their electronic health records by the study genetic counselor. Healthcare providers participate in an education session about genomic medicine and are supported by the study genetic counselor.

Through pre- and post-disclosure surveys, we ask Airmen about their motivations and barriers to undergoing GS, the impact of receiving their sequencing results, and their thoughts on integrating this type of information into the USAF military health system. Healthcare providers complete surveys about the genomic education session, their genetic knowledge and feelings of preparedness to communicate this information, and their perceived utility of the information. We are also assessing how the information is used to inform the management of the Airmen’s health.

We are interested in gaining knowledge about the barriers to and medical, behavioral, and economic implications of implementing genomic sequencing information into clinical care in the military health system through the perspectives of USAF Airmen and healthcare providers.

Supported by: FA8650-17-2-6704, U.S. Department of Defense

Disclaimer

This material is based on research sponsored by Air Force Medical Support Agency, Research and Acquisition Directorate AFMSA/SG5 under cooperative agreement number FA8650-17-2-6704. The U.S. Government is authorized to reproduce and distribute reprints for Governmental purposes notwithstanding any copyright notation thereon.

The views and conclusions contained herein are those of the authors and should not be interpreted as necessarily representing the official policies or endorsements, either expressed or implied, of Air Force Medical Support Agency, Research and Acquisition Directorate AFMSA/SG5 or the U.S. Government.

The voluntary, fully informed consent of the subjects used in this research was obtained as required by 32 CFR 219 and AFI 40-402, Protection of Human Subjects in Biomedical and Behavioral Research.

Publications

De Castro M, Biesecker L, Turner C, Brenner R, Witkop C, Mehlman M, Bradburne, Green RC. Genomic Medicine in the Military. Genomic Medicine. 2016: 1:15008.

Presentations

Hsu RL, Pereira S, Robinson JO, Islam R, Majumder M, Parasidis E, Mehlman MJ, Christensen K, Maxwell MD, Blout C, Lebo M, Killian JK, De Castro M, Green RC, McGuire AL. US Air Force Airmen's Perceptions after Receiving Genome Sequencing: Preliminary Results from the MilSeq Project. American Society for Bioethics and Humanities Annual Meeting. Pittsburgh, PA, US. October 24-27, 2019. Accepted as oral presentation.

Blout CL, Sirotich E, Zoltick E, Christensen K, Robinson JO, Pereira S, Petersen DK, Maxwell MD, Gardner C, De Castro M, Lebo M, McGuire AL, Brenner R, Green, RC. Healthy Genomic Sequencing: What Airmen Want to Know? Findings from the MilSeq Project. National Society of Genetic Counselors Annual Meeting. Atlanta, GA, US. November 14-17, 2019. Poster presentation.

Pereira S, Robinson JO, Hsu, RL, Petersen DK, Majumder MA, Parasidis E, Mehlman MJ, Christensen KD, Maxwell MD, Blout CL, Lebo M, Brenner R, Gardner C, De Castro M, Green RC, McGuire AL. Airmen's Attitudes Toward Genomic Sequencing In The US Air Force: Results From The Milseq Project. American Society for Bioethics and Humanities Annual Meeting. Anaheim, CA, US. October 18-21, 2018. Oral presentation.

Hsu RL, Pereira S, Robinson JO, Petersen JK, Majumder M, Parasidis E, Mehlman M, Christensen K, Maxwell MD, Blout C, Lebo M, Brenner R, Gardner C, De Castro M, Green RC, McGuire AL. Airmen's Attitudes toward Genomic Sequencing in the US Air Force: Results from The MilSeq Project. American Society for Human Genetics Annual Meeting. San Diego, CA, US. October 16-20, 2019. Poster presentation.

Maxwell, MD. Robinson JO, Gardner CL, De Castro M, Lebo M, Blout CL, Vassy JL, Christensen KD, Krier JB, Pereira S, McGuire AL, Mehlman MJ, Parasidis E, Brenner R, Green RC. Pharmacogenomics in the US Air Force: Development of a Tailored Panel for the MilSeq Project. American College of Medical Genetics and Genomics. Charlotte, NC. April 2018.

Press Release 

US Air Force Studying Impact of Exome Sequencing in Routine Care, Genomeweb Clinical Sequencing. October 2017.

The clinical integration of next generation sequencing (NGS) has brought to light challenging policy concerns such as oversight of test quality and services, patenting and licensing issues, privacy and data sharing, and insurance coverage and reimbursement. A team of legal and policy experts came together to identify, prioritize and deliberate the most important and tractable policy barriers and solutions to the clinical adoption of NGS.

This involved three major research activities:

1. Landscape analysis of current and emerging NGS companies and qualitative interviews with industry leaders, to understand how the industry is developing in an uncertain policy climate (see Nature Biotechnology publication and check out the list of next generation sequencing companies we developed using crowdsourcing methods).
2. Legal analysis of key policy issues related to regulation, reimbursement, intellectual property and data sharing (see Journal of Law, Medicine & Ethics special issue).
3. Modified Delphi process involving a series of four surveys to identify and prioritize the unique policy challenges involved in translating the health benefits of NGS (see Applied & Translational Genomics publication).

Supported by: R01HG006460, National Human Genome Research Institute, NIH

Publications

Guerrini CJ, McGuire AL, Majumder MA, Bollinger JS, Rowan PJ. Constraints on Gene Patent Protection Fuel Secrecy Concerns: A Qualitative Study, J. Law & Biosciences 4(3), 2017: 542-564.

Guerrini CJ, McGuire AL, Majumder MA. Myriad Take Two: Can Private Genomic Databases Remain Secret? Science 356(6338), 2017: 586-587.

Curnutte MA, Frumovitz KL, Bollinger JM, Cook-Deegan RM, McGuire AL, Kaufman DJ, Majumder MA. Developing context-specific next-generation sequencing policy. Nat Biotechnol 34, 2016: 466-470.

Messner DA, Naber JA, Koay P, Cook-Deegan R, Majumder M, et al. Barriers to clinical adoptions of next generation sequencing: Perspectives of a policy Delphi panel. Appl Trans Genom 10, 2016: 19-24.

Guerrini CJ, Majumder M, McGuire AL. Persistent confusion and controversy surrounding gene patents. Nat Biotechnol 34(2), 2016: 145-7.

Deverka PA, Kaufman D, McGuire AL. Overcoming the Reimbursement Barriers for Clinical Sequencing. JAMA 312(18), 2014: 1857-1858.

Special Issue for the Journal of Law, Medicine & Ethics 42(3), 2014 includes articles from:

• Amy McGuire, Margaret Curnutte, and David Kaufman. Clinical Integration of Next Generation Sequencing: A Policy Analysis
• Gail Javitt and Katherine S. Carner. Regulation of Next Generation Sequencing
• Patricia Deverka and Jennifer Dreyfus. Clinical Integration of Next Generation Sequencing: Coverage and Reimbursement Challenges
• Robert Cook-Deegan and Subhashini Chandrasekharan. Patents and Genome-Wide DNA Sequence Analysis: Is it Safe to Go into the Genome?
• Barbara J. Evans. Economic Regulation of Next-Generation Sequencing

Curnutte MA, Frumovitz KL, Bollinger JM, McGuire AL, Kaufman DJ. Development of the Clinical NGS Industry in a Shifting Policy Climate. Nature Biotechnology 32(10), 2014: 980-982.

Chandrasekharan S, McGuire AL, Van den Veyver IB. Do Recent US Supreme Court Rulings on Patenting of Genes and Genetic Diagnostics Affect the Practice of Genetic Screening and Diagnosis in Prenatal and Reproductive Care? Prenatal Diagn 34(10), 2014: 921-926.

Selected Presentations

Guerrini C. The New Landscape of Patent Eligibility: Empirical Findings. BioCanRx Summit for Cancer Immunotherapy. Ottawa, ON. June 2017.

Guerrini C. The New Legal Landscape of Genomics Patents: A Qualitative Study. The American Society of Human Genetics Annual Meeting, Washington, DC. October 2016.

McGuire AL, Kaufman DJ, Javitt GH, Deverka PA, Messner D, Cook-Deegan R, Curnutte MA, Bollinger J, Dvoskin R, Chandrasekharan S, Evans BJ. Clinical Integration of NGS: A Policy Analysis. The American Society of Human Genetics Annual Meeting, San Diego, CA. October 2014.

Curnutte MA, Frumovitz KL, Bollinger J, McGuire AL, Kaufman DJ. Tracking the Development of the Clinical Next Generation Sequencing Industry. The American Society of Human Genetics Annual Meeting, San Diego, CA. October 2014.

McGuire AL. Stakeholder Views of Regulatory Issues Related to Next Generation Sequencing. Legal Issues in Genomic Medicine Session, Clinical Sequencing Exploratory Research (CSER) Meeting, Bethesda, MD. October 2014.

Curnutte MA. The Next Generation Sequencing Industry: A Critique of the Policy-Lag Narrative. 13th Annual Science & Democracy Network Meeting, Vienna, Austria, June 2014. Department of Social Science, Health & Medicine, King’s College London, United Kingdom. June 2014.

Curnutte MA. Genetic Information in Context. Center for Genomics and Society, University of North Carolina, Chapel Hill, NC. April 2014.

Curnutte MA. Development of the Clinical NGS Industry in a Shifting Policy Climate. Clinical Genetics Conference, sponsored by Baylor College of Medicine, Houston, TX. April 2014.

Curnutte MA. Genetic Information is as Genetic Information Does. American Anthropological Association Annual Meeting, Chicago, IL. November 2013.

Curnutte MA, Frumovitz KL, Bollinger J, Javitt GH, Carner KS, Cook-Deegan R, Chandrasekharan S, Messner D, Deverka P, Kaufman DJ, McGuire AL. Mapping the Next Generation Sequencing Industry. The American Society of Human Genetics Annual Meeting, Boston, MA. October 2013.

Curnutte MA. Mapping the Next Generation Sequencing Industry. The Clinical Genome Conference, San Francisco, CA. June 2013.