Sandra Soo-Jin Lee

Race and ancestry in biomedical research: exploring the challenges.

The use of race in biomedical research has, for decades, been a source of social controversy. However, recent events, such as the adoption of racially targeted pharmaceuticals, have raised the profile of the race issue. In addition, we are entering an era in which genomic research is increasingly focused on the nature and extent of human genetic variation, often examined by population, which leads to heightened potential for misunderstandings or misuse of terms concerning genetic variation and race. Here, we draw together the perspectives of participants in a recent interdisciplinary workshop on ancestry and health in medicine in order to explore the use of race in research issue from the vantage point of a variety of disciplines. We review the nature of the race controversy in the context of biomedical research and highlight several challenges to policy action, including restrictions resulting from commercial or regulatory considerations, the difficulty in presenting precise terminology in the media, and drifting or ambiguous definitions of key terms.

Research 2.0: Social Networking and Direct-To-Consumer (DTC) Genomics

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.

The ethics of characterizing difference: guiding principles on using racial categories in human genetics

We are a multidisciplinary group of Stanford faculty who propose ten principles to guide the use of racial and ethnic categories when characterizing group differences in research into human genetic variation.

Ethical Issues Surrounding Human Participants Research Using the Internet

The Internet appears to offer psychologists doing research unrestricted access to infinite amounts and types of data. However, the ethical issues surrounding the use of data and data collection methods are challenging research review boards at many institutions. This article illuminates some of the obstacles facing researchers who wish to take advantage of the Internets flexibility. The applications of the APA ethical codes for conducting research on human participants on the Internet are reviewed. The principle of beneficence, as well as privacy and confidentiality, informed consent, deception, and avoiding harm are all illustrated through the use of a hypothetical online study.

The Illusive Gold Standard in Genetic Ancestry Testing

New regulations on disclosure, authority, and responsibility would shape how genetic ancestry tests are used. Genetic ancestry testing is being applied in areas as diverse as forensics, genealogical research, immigration control, and biomedical research (1–3). Use of ancestry as a potential risk factor for disease is entrenched in clinical decision-making (4), so it is not surprising that techniques to determine genetic ancestry are increasingly deployed to identify genetic variants associated with disease and drug response (5). Recently, direct-to-consumer (DTC) personal genomics companies have used ancestry information to calculate individual risk profiles for a range of diseases and traits.

Patient Perspectives on the Learning Health System: The Importance of Trust and Shared Decision Making.

We conducted focus groups to assess patient attitudes toward research on medical practices in the context of usual care. We found that patients focus on the implications of this research for their relationship with and trust in their physicians. Patients view research on medical practices as separate from usual care, demanding dissemination of information and in most cases, individual consent. Patients expect information about this research to come through their physician, whom they rely on to identify and filter associated risks. In general, patients support this research, but worry that participation in research involving randomization may undermine individualized care that acknowledges their unique medical histories. These findings suggest the need for public education on variation in practice among physicians and the need for a collaborative approach to the governance of research on medical practices that addresses core values of trust, transparency, and partnership.

The Ethical Implications of Stratifying by Race in Pharmacogenomics

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.

Views of Genetics Health Professionals on the Return of Genomic Results

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.

Racing Forward: The Genomics and Personalized Medicine Act

A key section was eliminated from a bill supporting research and development in pharmacogenomics.

Race, distributive justice and the promise of pharmacogenomics: ethical considerations

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.