Race and Ancestry in the Age of Inclusion: Technique and Meaning in Post-Genomic Science
JOURNAL OF HEALTH AND SOCIAL BEHAVIOR
2014; 55 (4): 504-518
Protecting Posted Genes: Social Networking and the Limits of GINA
AMERICAN JOURNAL OF BIOETHICS
2014; 14 (11): 32-44
Views of genetics health professionals on the return of genomic results.
Journal of genetic counseling
2014; 23 (4): 531-538
This article examines how race and ancestry are taken up in gene-environment interaction (GEI) research on complex diseases such as heart disease, diabetes, and cancer. Using 54 in-depth interviews of 33 scientists and over 200 hours of observation at scientific conferences, we explore how GEI researchers use and interpret race, ethnicity, and ancestry in their work. We find that the use of self-identified race and ethnicity (SIRE) exists alongside ancestry informative markers (AIMs) to ascertain genetic ancestry. Our participants assess the utility of these two techniques in relative terms, downplaying the accuracy and value of SIRE compared to the precision and necessity of AIMs. In doing so, we argue that post-genomic scientists seeking to understand the interactions of genetic and environmental disease determinants actually undermine their ability to do so by valorizing precise characterizations of individuals' genetic ancestry over measurement of the social processes and relations that differentiate social groups.
View details for DOI 10.1177/0022146514555224
View details for Web of Science ID 000346697900008
View details for PubMedID 25378251
Homogeneity and heterogeneity as situational properties: Producing - and moving beyond? - race in post-genomic science
SOCIAL STUDIES OF SCIENCE
2014; 44 (4): 579-599
The time is ripe for an ethics of entrepreneurship.
2014; 32 (4): 316-318
Race, Risk, and Recreation in Personal Genomics: The Limits of Play
MEDICAL ANTHROPOLOGY QUARTERLY
2013; 27 (4): 550-569
As exome and whole genome sequencing become clinically available, the potential to receive a large number of clinically relevant but incidental results is a significant challenge in the provision of genomic counseling. We conducted three focus groups of a total of 35 individuals who were members of ASHG and/or NSGC, assessing views towards the return of genomic results. Participants stressed that patient autonomy was primary. There was consensus that a mechanism to return results to the healthcare provider, rather than patient, and to streamline integration into the electronic health record would ensure these results had the maximal impact on patient management. All three focus groups agreed that pharmacogenomic results were reasonable to return and that they were not felt to be stigmatizing. With regard to the return of medically relevant results, there was much debate. Participants had difficulty in consistently assigning specific diseases to 'bins' that were considered obligatory versus optional for disclosure. Consensus was reached regarding the importance of informed consent and pretest counseling visits to clarify what the return of results process would entail. Evidence based professional guidelines should continue to be developed and regularly revised to assist in consistently and appropriately providing genomic results to patients.
View details for DOI 10.1007/s10897-013-9611-5
View details for PubMedID 23728783
Reflections on the cost of "low-cost" whole genome sequencing: framing the health policy debate.
2013; 11 (11)
Despite the mantra that genetics has moved beyond race, the burgeoning industry of genetic ancestry reveals how genetics has offered new technology through which individuals can link to intersections in time and space in complex ways that recapitulate understandings of racial order, origins, and group membership. This article focuses on the trope of "recreation" asserted in the marketing of ancestry genetic tests and examines the suggestion of self-discovery through the recovery of lost kin. Themes of recreation and re-creation paradoxically suggest both passivity of self-revelation and the power to re-act and re-create one's self in light of a different, more enlightened future. Direct-to-consumer personal genetics testing companies play guardian to this consumer play, providing tailored genetic scripts and highlighting how consumers might use their information. This article critically examines the play with concepts of ancestry, ethnicity, and genetic variation and their implications for public understanding of the relationship between race and genetics.
View details for DOI 10.1111/maq.12059
View details for Web of Science ID 000332039800005
View details for PubMedID 24214161
Reflections on the Cost of "Low-Cost" Whole Genome Sequencing: Framing the Health Policy Debate
2013; 11 (11)
American DNA The Politics of Potentiality in a Genomic Age
2013; 54: S77-S86
Personal genome testing in medical education: student experiences with genotyping in the classroom
Attitudes towards Social Networking and Sharing Behaviors among Consumers of Direct-to-Consumer Personal Genomics.
Journal of personalized medicine
2013; 3 (4): 275-287
The cost of whole genome sequencing is dropping rapidly. There has been a great deal of enthusiasm about the potential for this technological advance to transform clinical care. Given the interest and significant investment in genomics, this seems an ideal time to consider what the evidence tells us about potential benefits and harms, particularly in the context of health care policy. The scale and pace of adoption of this powerful new technology should be driven by clinical need, clinical evidence, and a commitment to put patients at the centre of health care policy.
View details for DOI 10.1371/journal.pbio.1001699
View details for PubMedID 24223516
Customers or research participants?: Guidance for research practices in commercialization of personal genomics
GENETICS IN MEDICINE
2012; 14 (10): 833-835
Informational risk, institutional review, and autonomy in the proposed changes to the common rule.
2012; 34 (3): 17-19
Assessing the Pedagogical Goals of Self-Testing in Evaluating the Consultation Needs of Different Student Populations
AMERICAN JOURNAL OF BIOETHICS
2012; 12 (4): 41-43
Lessons Learned From the US Public Health Service Syphilis Study at Tuskegee: Incorporating a Discourse on Relationships Into the Ethics of Research Participation Among Asian Americans
ETHICS & BEHAVIOR
2012; 22 (6): 489-492
Secondary uses and the governance of de-identified data: Lessons from the human genome diversity panel
BMC MEDICAL ETHICS
Little is known about how consumers of direct-to-consumer personal genetic services share personal genetic risk information. In an age of ubiquitous online networking and rapid development of social networking tools, understanding how consumers share personal genetic risk assessments is critical in the development of appropriate and effective policies. This exploratory study investigates how consumers share personal genetic information and attitudes towards social networking behaviors.Adult participants aged 23 to 72 years old who purchased direct-to-consumer genetic testing from a personal genomics company were administered a web-based survey regarding their sharing activities and social networking behaviors related to their personal genetic test results.80 participants completed the survey; of those, 45% shared results on Facebook and 50.9% reported meeting or reconnecting with more than 10 other individuals through the sharing of their personal genetic information. For help interpreting test results, 70.4% turned to Internet websites and online sources, compared to 22.7% who consulted their healthcare providers. Amongst participants, 51.8% reported that they believe the privacy of their personal genetic information would be breached in the future.Consumers actively utilize online social networking tools to help them share and interpret their personal genetic information. These findings suggest a need for careful consideration of policy recommendations in light of the current ambiguity of regulation and oversight of consumer initiated sharing activities.
View details for DOI 10.3390/jpm3040275
View details for PubMedID 25562728
The Illusive Gold Standard in Genetic Ancestry Testing
2009; 325 (5936): 38-39
MEDICINE Racing Forward: The Genomics and Personalized Medicine Act
2009; 323 (5912): 342-342
Response to Open Peer Commentaries on "Research 2.0: Social Networking and Direct-to-Consumer Personal Genomics"
AMERICAN JOURNAL OF BIOETHICS
2009; 9 (6-7): W1-W3
Race and ancestry in biomedical research: exploring the challenges
Pharmacogenomics and the Challenge of Health Disparities
PUBLIC HEALTH GENOMICS
2009; 12 (3): 170-179
Recent changes to regulatory guidance in the US and Europe have complicated oversight of secondary research by rendering most uses of de-identified data exempt from human subjects oversight. To identify the implications of such guidelines for harms to participants and communities, this paper explores the secondary uses of one de-identified DNA sample collection with limited oversight: the Human Genome Diversity Project (HGDP)-Centre d'Etude du Polymorphisme Humain, Fondation Jean Dausset (CEPH) Human Genome Diversity Panel.Using a combination of keyword and cited reference search, we identified English-language scientific articles published between 2002 and 2009 that reported analysis of HGDP Diversity Panel samples and/or data. We then reviewed each article to identify the specific research use to which the samples and/or data was applied. Secondary uses were categorized according to the type and kind of research supported by the collection.A wide variety of secondary uses were identified from 148 peer-reviewed articles. While the vast majority of these uses were consistent with the original intent of the collection, a minority of published reports described research whose primary findings could be regarded as controversial, objectionable, or potentially stigmatizing in their interpretation.We conclude that potential risks to participants and communities cannot be wholly eliminated by anonymization of individual data and suggest that explicit review of proposed secondary uses, by a Data Access Committee or similar internal oversight body with suitable stakeholder representation, should be a required component of the trustworthy governance of any repository of data or specimens.
View details for DOI 10.1186/1472-6939-12-16
View details for Web of Science ID 000295886100001
View details for PubMedID 21943371
Research 2.0: Social Networking and Direct-To-Consumer (DTC) Genomics
AMERICAN JOURNAL OF BIOETHICS
2009; 9 (6-7): 35-44
This paper examines emerging technologies and recent research on population differences in pharmacogenomics and the perspectives of scientists, community advocates, policymakers, and social critics on the use of race as a proxy for genetic variation. The discussion focuses on how recent developments in genomic science impact social understandings of racial difference and the public health goal to eliminate ongoing health disparities among racially identified groups. This paper examines how factors such as governmental policies--requiring the use of racial and ethnic categories in genetic research and increasing interest in identifying untapped racial market niches by the pharmaceutical and biotechnology industries--and weak governmental oversight of race-based therapeutics converge to create an 'infrastructure of racialization' that may alter the vision of personalized medicine that has been so highly anticipated. This paper argues that significant public investment in pharmacogenomics requires careful consideration of the emerging discourse that tethers racial justice to notions of racial biology and discusses the social and ethical implications for the pendulum shift towards a geneticization of race in drug development.
View details for DOI 10.1159/000189630
View details for Web of Science ID 000263585600007
View details for PubMedID 19204420
The ethics of characterizing difference: guiding principles on using racial categories in human genetics
2008; 9 (7)
The ethical implications of stratifying by race in pharmacogenomics
CLINICAL PHARMACOLOGY & THERAPEUTICS
2007; 81 (1): 122-125
The convergence of increasingly efficient high throughput sequencing technology and ubiquitous Internet use by the public has fueled the proliferation of companies that provide personal genetic information (PGI) direct-to-consumers. Companies such as 23andme (Mountain View, CA) and Navigenics (Foster City, CA) are emblematic of a growing market for PGI that some argue represents a paradigm shift in how the public values this information and incorporates it into how they behave and plan for their futures. This new class of social networking business ventures that market the science of the personal genome illustrates the new trend in collaborative science. In addition to fostering a consumer empowerment movement, it promotes the trend of democratizing information--openly sharing of data with all interested parties, not just the biomedical researcher--for the purposes of pooling data (increasing statistical power) and escalating the innovation process. This target article discusses the need for new approaches to studying DTC genomics using social network analysis to identify the impact of obtaining, sharing, and using PGI. As a locus of biosociality, DTC personal genomics forges social relationships based on beliefs of common genetic susceptibility that links risk, disease, and group identity. Ethical issues related to the reframing of DTC personal genomic consumers as advocates and research subjects and the creation of new social formations around health research may be identified through social network analysis.
View details for DOI 10.1080/15265160902874452
View details for Web of Science ID 000267493100013
View details for PubMedID 19998112
Biobanks of a 'racial kind': mining for difference in the new genetics
PATTERNS OF PREJUDICE
2006; 40 (4-5): 443-460
Ethical implications of race and genomics - Racializing drug design: Implications of pharmacogenomics
AMERICAN JOURNAL OF PUBLIC HEALTH
2005; 95 (12): 2133-2138
Many predict that pharmacogenomics is poised to deliver on the promises of the genomic revolution in ushering an era of personalized medicine. However, questions have emerged over whether the field will deliver a truly individualized medicine or if population-based therapies that build on conventional notions of racial biology will prevail. At the heart of this issue is the challenge of knowing which axes of stratification are appropriate in identifying population differences and to what extent is race and/or ethnicity an appropriate method of comparison in studies of genetic variation. These questions make plain that in addition to the development of technical tools to identify salient gene variants associated with drug response, serious consideration over how best to characterize populations in human genetic variation research must be given in order to realize the putative benefits of tailored therapeutics.
View details for DOI 10.1038/sj.clpt.6100020
View details for Web of Science ID 000242874200028
View details for PubMedID 17186010
Genetic research and health disparities
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
2004; 291 (24): 2985-2989
Current practices of using "race" in pharmacogenomics research demands consideration of the ethical and social implications for understandings of group difference and for efforts to eliminate health disparities. This discussion focuses on an "infrastructure of racialization" created by current trajectories of research on genetic differences among racially identified groups, the use of race as a proxy for risk in clinical practice, and increasing interest in new market niches by the pharmaceutical industry. The confluence of these factors has resulted in the conflation of genes, disease, and race. I argue that public investment in pharmacogenomics requires careful consideration of current inequities in health status and social and ethical concerns over reifying race and issues of distributive justice.
View details for Web of Science ID 000233656000012
Race, distributive justice and the promise of pharmacogenomics: ethical considerations.
American journal of pharmacogenomics
2003; 3 (6): 385-392
Alleviating health disparities in the United States is a goal with broad support. Medical research undertaken to achieve this goal typically adopts the well-established perspective that racial discrimination and poverty are the major contributors to unequal health status. However, the suggestion is increasingly made that genetic research also has a significant role to play in alleviating this problem, which likely overstates the importance of genetics as a factor in health disparities. Overemphasis on genetics as a major explanatory factor in health disparities could lead researchers to miss factors that contribute to disparities more substantially and may also reinforce racial stereotyping, which may contribute to disparities in the first place. Arguments that promote genetics research as a way to help alleviate health disparities are augmented by several factors, including research funding initiatives and the distinct demographic patterns of health disparities in the United States.
View details for Web of Science ID 000222184600028
View details for PubMedID 15213210
The meanings of "race" in the new genomics: implications for health disparities research.
Yale journal of health policy, law, and ethics
2001; 1: 33-75
Pharmacogenomics has emerged in the popular press as a key vehicle ushering in a new era of personalized medicine. Often described in utopian terms, gene-sequencing technology is predicted to result in the creation of a new line of therapeutics tailored to individual genetic signatures. In the absence of cost-effective, ubiquitous genome scanning tests, it may be more accurate to describe the next wave of genomic medicine as population-based rather than one focused on individual differences. Although the completion of the Human Genome Project seemed to confirm the fallacy of a genetic basis of 'race', the use of race in understanding human genetic variation has become a central focal point in the development of tools in genomic research in medicine. Despite the often repeated statement that humans share 99.9% of their genetic makeup, the growing number of privately and publicly funded cell repositories collecting DNA samples from racially identified populations reflects the increasing salience of the relationship between race and genes. Research on the ethical implications of identifying race in pharmacogenomics research has thus far, been fairly limited. As the field surges ahead, it is critical to examine the use of race in pharmacogenomics research and its attendant benefits and potential harm to individuals and groups.
View details for PubMedID 14672519