Archive for the ‘Bio-Ethics’ Category

Diversity and Health Disparity Issues Need to be Addressed for GWAS and Precision Medicine Studies

Curator: Stephen J. Williams, PhD




Ethics of inclusion: Cultivate trust in precision medicine

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Science  07 Jun 2019:
Vol. 364, Issue 6444, pp. 941-942
DOI: 10.1126/science.aaw8299

Precision medicine is at a crossroads. Progress toward its central goal, to address persistent health inequities, will depend on enrolling populations in research that have been historically underrepresented, thus eliminating longstanding exclusions from such research (1). Yet the history of ethical violations related to protocols for inclusion in biomedical research, as well as the continued misuse of research results (such as white nationalists looking to genetic ancestry to support claims of racial superiority), continue to engender mistrust among these populations (2). For precision medicine research (PMR) to achieve its goal, all people must believe that there is value in providing information about themselves and their families, and that their participation will translate into equitable distribution of benefits. This requires an ethics of inclusion that considers what constitutes inclusive practices in PMR, what goals and values are being furthered through efforts to enhance diversity, and who participates in adjudicating these questions. The early stages of PMR offer a critical window in which to intervene before research practices and their consequences become locked in (3).

Initiatives such as the All of Us program have set out to collect and analyze health information and biological samples from millions of people (1). At the same time, questions of trust in biomedical research persist. For example, although the recent assertions of white nationalists were eventually denounced by the American Society of Human Genetics (4), the misuse of ancestry testing may have already undermined public trust in genetic research.

There are also infamous failures in research that included historically underrepresented groups, including practices of deceit, as in the Tuskegee Syphilis Study, or the misuse of samples, as with the Havasupai tribe (5). Many people who are being asked to give their data and samples for PMR must not only reconcile such past research abuses, but also weigh future risks of potential misuse of their data.

To help assuage these concerns, ongoing PMR studies should open themselves up to research, conducted by social scientists and ethicists, that examines how their approaches enhance diversity and inclusion. Empirical studies are needed to account for how diversity is conceptualized and how goals of inclusion are operationalized throughout the life course of PMR studies. This is not limited to selection and recruitment of populations but extends to efforts to engage participants and communities, through data collection and measurement, and interpretations and applications of study findings. A commitment to transparency is an important step toward cultivating public trust in PMR’s mission and practices.

From Inclusion to Inclusive

The lack of diverse representation in precision medicine and other biomedical research is a well-known problem. For example, rare genetic variants may be overlooked—or their association with common, complex diseases can be misinterpreted—as a result of sampling bias in genetics research (6). Concentrating research efforts on samples with largely European ancestry has limited the ability of scientists to make generalizable inferences about the relationships among genes, lifestyle, environmental exposures, and disease risks, and thereby threatens the equitable translation of PMR for broad public health benefit (7).

However, recruiting for diverse research participation alone is not enough. As with any push for “diversity,” related questions arise about how to describe, define, measure, compare, and explain inferred similarities and differences among individuals and groups (8). In the face of ambivalence about how to represent population variation, there is ample evidence that researchers resort to using definitions of diversity that are heterogeneous, inconsistent, and sometimes competing (9). Varying approaches are not inherently problematic; depending on the scientific question, some measures may be more theoretically justified than others and, in many cases, a combination of measures can be leveraged to offer greater insight (10). For example, studies have shown that American adults who do not self-identify as white report better mental and physical health if they think others perceive them as white (1112).

The benefit of using multiple measures of race and ancestry also extends to genetic studies. In a study of hypertension in Puerto Rico, not only did classifications based on skin color and socioeconomic status better predict blood pressure than genetic ancestry, the inclusion of these sociocultural measures also revealed an association between a genetic polymorphism and hypertension that was otherwise hidden (13). Thus, practices that allow for a diversity of measurement approaches, when accompanied by a commitment to transparency about the rationales for chosen approaches, are likely to benefit PMR research more than striving for a single gold standard that would apply across all studies. These definitional and measurement issues are not merely semantic. They also are socially consequential to broader perceptions of PMR research and the potential to achieve its goals of inclusion.

Study Practices, Improve Outcomes

Given the uncertainty and complexities of the current, early phase of PMR, the time is ripe for empirical studies that enable assessment and modulation of research practices and scientific priorities in light of their social and ethical implications. Studying ongoing scientific practices in real time can help to anticipate unintended consequences that would limit researchers’ ability to meet diversity recruitment goals, address both social and biological causes of health disparities, and distribute the benefits of PMR equitably. We suggest at least two areas for empirical attention and potential intervention.

First, we need to understand how “upstream” decisions about how to characterize study populations and exposures influence “downstream” research findings of what are deemed causal factors. For example, when precision medicine researchers rely on self-identification with U.S. Census categories to characterize race and ethnicity, this tends to circumscribe their investigation of potential gene-environment interactions that may affect health. The convenience and routine nature of Census categories seemed to lead scientists to infer that the reasons for differences among groups were self-evident and required no additional exploration (9). The ripple effects of initial study design decisions go beyond issues of recruitment to shape other facets of research across the life course of a project, from community engagement and the return of results to the interpretation of study findings for human health.

Second, PMR studies are situated within an ecosystem of funding agencies, regulatory bodies, disciplines, and other scholars. This partly explains the use of varied terminology, different conceptual understandings and interpretations of research questions, and heterogeneous goals for inclusion. It also makes it important to explore how expectations related to funding and regulation influence research definitions of diversity and benchmarks for inclusion.

For example, who defines a diverse study population, and how might those definitions vary across different institutional actors? Who determines the metrics that constitute successful inclusion, and why? Within a research consortium, how are expectations for data sharing and harmonization reconciled with individual studies’ goals for recruitment and analysis? In complex research fields that include multiple investigators, organizations, and agendas, how are heterogeneous, perhaps even competing, priorities negotiated? To date, no studies have addressed these questions or investigated how decisions facilitate, or compromise, goals of diversity and inclusion.

The life course of individual studies and the ecosystems in which they reside cannot be easily separated and therefore must be studied in parallel to understand how meanings of diversity are shaped and how goals of inclusion are pursued. Empirically “studying the studies” will also be instrumental in creating mechanisms for transparency about how PMR is conducted and how trade-offs among competing goals are resolved. Establishing open lines of inquiry that study upstream practices may allow researchers to anticipate and address downstream decisions about how results can be interpreted and should be communicated, with a particular eye toward the consequences for communities recruited to augment diversity. Understanding how scientists negotiate the challenges and barriers to achieving diversity that go beyond fulfilling recruitment numbers is a critical step toward promoting meaningful inclusion in PMR.

Transparent Reflection, Cultivation of Trust

Emerging research on public perceptions of PMR suggests that although there is general support, questions of trust loom large. What we learn from studies that examine on-the-ground approaches aimed at enhancing diversity and inclusion, and how the research community reflects and responds with improvements in practices as needed, will play a key role in building a culture of openness that is critical for cultivating public trust.

Cultivating long-term, trusting relationships with participants underrepresented in biomedical research has been linked to a broad range of research practices. Some of these include the willingness of researchers to (i) address the effect of history and experience on marginalized groups’ trust in researchers and clinicians; (ii) engage concerns about potential group harms and risks of stigmatization and discrimination; (iii) develop relationships with participants and communities that are characterized by transparency, clear communication, and mutual commitment; and (iv) integrate participants’ values and expectations of responsible oversight beyond initial informed consent (14). These findings underscore the importance of multidisciplinary teams that include social scientists, ethicists, and policy-makers, who can identify and help to implement practices that respect the histories and concerns of diverse publics.

A commitment to an ethics of inclusion begins with a recognition that risks from the misuse of genetic and biomedical research are unevenly distributed. History makes plain that a multitude of research practices ranging from unnecessarily limited study populations and taken-for-granted data collection procedures to analytic and interpretive missteps can unintentionally bolster claims of racial superiority or inferiority and provoke group harm (15). Sustained commitment to transparency about the goals, limits, and potential uses of research is key to further cultivating trust and building long-term research relationships with populations underrepresented in biomedical studies.

As calls for increasing diversity and inclusion in PMR grow, funding and organizational pathways must be developed that integrate empirical studies of scientific practices and their rationales to determine how goals of inclusion and equity are being addressed and to identify where reform is required. In-depth, multidisciplinary empirical investigations of how diversity is defined, operationalized, and implemented can provide important insights and lessons learned for guiding emerging science, and in so doing, meet our ethical obligations to ensure transparency and meaningful inclusion.

References and Notes

  1. C. P. Jones et al Ethn. Dis. 18496 (2008).
  2. C. C. GravleeA. L. NonC. J. Mulligan
  3. S. A. Kraft et al Am. J. Bioeth. 183 (2018).
  4. A. E. Shields et al Am. Psychol. 6077 (2005).

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The 16th annual EmTech MIT – A Place of Inspiration, October 18-20, 2016, Cambridge, MA

MIT Media Lab
Building E14
75 Amherst Street

(Corner of Ames and Amherst)
Cambridge, MA 02139

Conference Location: Entire 6th floor of Building E14

EmTech MIT Brings The Award-Winning Journalism of MIT Technology Review To Life

The 16th annual EmTech MIT gathers preeminent thought leaders, researchers and business leaders to examine the most significant themes in emerging technologies, including:

– Rethinking Energy

– Virtual Reality, Augmented Life

– Artificial intelligence

– Global Connectivity

– Engineering a Healthy Planet

– Spotlight talks on the 10 Breakthrough Technologies

– Celebration of the 2016 Innovators Under 35


Leaders in Pharmaceutical Business Intelligence (LPBI) Group, Boston


will cover in REAL TIME

The 16th annual EmTech MIT – A Place of Inspiration, October 18-20, 2016, Cambridge, MA


In attendance, streaming LIVE using Social Media

Aviva Lev-Ari, PhD, RN





 All Speakers



Featured Speakers


  • Nora

    Gabilan Assistant Professor, University of Southern California

    2016 Innovator Under 35

  • Amir

    Prize Lead, X Prize

    Incentivizing Innovative Approaches & Collaboration in A.I.

  • Muyinatu

    Assistant Professor, Johns Hopkins University

    2016 Innovator Under 35

  • Brian

    Executive Editor, MIT Technology Review

  • Nessan

    Chief Executive Officer, President and Founder, Intellia Therapeutics

    The Potential for Genome Editing Technology to Transform Medicine

  • Dinesh

    Postdoctoral Associate, MIT CSAIL

    2016 Innovator Under 35

  • Heather

    CEO & Founder, Dot Laboratories

    2016 Innovator Under 35

  • Elizabeth

    Chief Operating Officer, MIT Technology Review

  • Qing

    Research Staff Member, IBM T.J. Watson Research Center

    2016 Innovator Under 35

  • Jagdish

    Director, Clinical Innovations, InnAccel

    2016 Innovator Under 35

  • David

    Assistant Professor of Molecular and Cellular Biology and of Computer Science, Harvard University

    Building Computer Vision Systems Inspired by the Brain

  • Tom

    President’s Distinguished Professor of Information Technology & Management, Babson College

    Presented by RAGE Frameworks

  • Stefano

    CEO, Automobili Lamborghini

    Presented by the Italian Trade Agency

  • Kevin

    Assistant Professor, MIT Media Lab

    The Technology Driving Gene Drives

  • Vivian

    Assistant Professor, University of Minnesota

    2016 Innovator Under 35

  • Wei

    Postdoctoral Fellow, University of California, Berkeley

    2016 Innovator Under 35

  • Dileep

    Cofounder, Vicarious

    Artificial Intelligence At Work

  • Shyam

    Assistant Professor, University of Washington

    10 Breakthrough Technologies of 2016: Power from the Air

  • Meron

    CEO, Meta

    2016 Innovator Under 35

  • Jiawei

    Cofounder, Ling Robotics

    2016 Innovator Under 35

  • Rachel

    Managing Director, 1776

    Incubating Technical Solutions with Global Impact

  • Alex

    Member of Research Staff, PARC

    2016 Innovator Under 35

  • Katherine

    Cofounder, President and Chief Scientific Officer, Spark Therapeutics

    Gene Therapy: A New Era of Medicine

  • Christine

    CEO, Imprint Energy, Inc.

    2016 Innovator Under 35

  • Ehsan

    Assistant Professor, University of Rochester

    2016 Innovator Under 35

  • Solomon

    Chancellor’s Associate Professor of Public Policy, University of California, Berkeley

    Addressing the Effects of Climate Change

  • Karl

    CEO and Cofounder, nuTonomy

    Intelligent Machines: Autonomous Cars

  • Sangbae

    Associate Professor of Mechanical Engineering, MIT

    Robots at Work

  • Samay

    Chief Executive Officer, GreyOrange

    2016 Innovator Under 35

  • Kendra

    CTO, Opus 12

    2016 Innovator Under 35

  • Maithilee

    Assistant Professor, Vanderbilt University

    2016 Innovator Under 35

  • Stephanie

    Founder & CEO, Blendoor

    2016 Innovator Under 35

  • Desmond

    Assistant Professor, Singapore University of Technology and Design

    2016 Innovator Under 35

  • Evan

    Instructor, Harvard Medical School

    2016 Innovator Under 35

  • Yael

    Engineering Director, Facebook Connectivity Lab

    Expanding the Global Impact of Internet Connectivity

  • Vikram

    SVP, Artificial Intelligence Solutions, RAGE Frameworks

    Presented by RAGE Frameworks

  • Marcela

    Director of Cellular Immunotherapy, Massachusetts General Hospital Cancer Center

    The Promise of Cancer Immunotherapy

  • Pranav

    Global Vice President of Research, Samsung

    Envisioning What’s Next for Virtual Reality

  • Jason

    Editor in Chief and Publisher, MIT Technology Review

  • Ramesh

    Director, MIT Media Lab Camera Culture Group

    Presented by Lemelson-MIT

  • Alberto Maria

    Board Member & Past President, Federmacchine

    Presented by the Italian Trade Agency

  • Don

    Professor, Materials Science & Engineering, MIT

    Providing Power for a Growing Global Population

  • Ruslan

    Associate Professor, Carnegie Mellon University

    The Promise and Limitations of Machine Learning

  • Kelly

    Assistant Professor, University of Southern California

    2016 Innovator Under 35

  • Michele

    President, Italian Trade Agency

    Presented by the Italian Trade Agency

  • Stefanie

    Assistant Professor, Computer Science, Brown University

    10 Breakthrough Technologies of 2016: Robots That Teach Each Other

  • Ronaldo

    CEO, Hand Talk

    2016 Innovator Under 35

  • Sonia

    PhD Student, Prion Scientist, Broad Institute

    2016 Innovator Under 35

  • Cyrus
    Vance Jr.

    Manhattan District Attorney, Manhattan District Attorney’s Office

    Security & Privacy in the Connected Era

  • Oriol

    Research Scientist, Google DeepMind

    2016 Innovator Under 35

  • Aleksandra

    Assistant Professor, University of Pennsylvania

    2016 Innovator Under 35

  • Padmasree

    CEO, NextEV

    Imagining Clean, Connected Transportation

  • Jean

    Assistant Professor, Carnegie Mellon University

    2016 Innovator Under 35

  • Yihui

    Associate Professor, Tsinghua University

    2016 Innovator Under 35

  • Jia

    Professor, Nanjing University

    2016 Innovator Under 35


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Presidential Commission for the Study of Bioethical Issues, March 3, 2016 Teleconference

Reporter: Aviva Lev-Ari, PhD, RN

Agenda for Meeting 24: March 3, 2016 Teleconference



March 3, 2016

2:00 – 4:00 p.m. EST
Dial in number: 1-888-769-8756
Participant passcode: 8934813


Thursday, March 3

2:00 – 2:10 p.m. Welcome and Opening Remarks

Amy Gutmann, Ph.D.
Commission Chair

James Wagner, Ph.D.
Commission Vice Chair

2:10 – 2:55 p.m. Session 1: Bioethics Commission Educational Materials

Elizabeth Pike, J.D., LL.M.
Senior Policy and Research Analyst
Presidential Commission for the Study of Bioethical Issues

Maneesha Sakhuja, M.H.S.
Research Analyst
Presidential Commission for the Study of Bioethical Issues

Steven Kessler, M.S.
Instructor, Biological Sciences
City College of San Francisco

2:55 – 3:55 p.m. Session 2: Member Discussion

3:55 – 4:00 p.m. Concluding Remarks

Amy Gutmann, Ph.D.

James Wagner, Ph.D.

– See more at: http://bioethics.gov/node/5542#sthash.VQRt4jGB.dpuf

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