Showing papers by "Mildred K. Cho published in 2012"

Genetic Counseling for Prenatal Testing: Where is the Discussion About Disability?

Abstract: There are little data revealing how genetic counselors talk about disability in the prenatal setting. We performed a qualitative analysis of 93 existing transcripts from simulated patient (SP) genetic counseling sessions conducted in 2003–4 through the Genetic Counseling Video Project. We found that most genetic counselors (95%) focused on the physical aspects of disability while fewer (27%) discussed the social aspects. In addition, few genetic counselors (38%) asked patients about personal experiences with disability. When discussing options available if a pregnancy were diagnosed with a disability, most genetic counselors mentioned termination (86%) while fewer mentioned the continuation of the pregnancy (37%) or adoption (13%). Only half of the genetic counselors asked the SP if she had thought about how she might use the results of prenatal screening. To better facilitate informed decision-making that is consistent with patient values, we recommend genetic counselors engage prenatal patients in a deeper discussion about their ability and willingness to parent a child with a disability.

Cell-free fetal DNA testing for fetal aneuploidy and beyond: clinical integration challenges in the US context

Abstract: The recent release of new, non-invasive prenatal tests for fetal aneuploidy using cell-free fetal DNA (cffDNA) has been hailed as a revolution in prenatal testing and has triggered significant commercial interest in the field. Ongoing research portends the arrival of a wide range of cffDNA tests. However, it is not yet clear how these tests will be integrated into well-established prenatal testing strategies in the USA, as the timing of such testing and the degree to which new non-invasive tests will supplement or replace existing screening and diagnostic tools remain uncertain. We argue that there is an urgent need for policy-makers, regulators and professional societies to provide guidance on the most efficient and ethical manner for such tests to be introduced into clinical practice in the USA.

Barriers to Considering Ethical and Societal Implications of Research: Perceptions of Life Scientists

Abstract: Background: As part of an empirical study investigating how life scientists think about ethical and societal implications of their work, and about life science research in general, we sought to elucidate barriers that scientists might face in considering such implications. Methods: Between 2005 and 2007, we conducted a study consisting of phone interviews, focus groups, and a national survey of life scientists at biomedical research institutions. The study population included graduate students, postdoctoral fellows, faculty, clinical instructors, and research staff. We analyzed data through qualitative and quantitative methods. Results: In analyzing the data, we found that life scientists do, in fact, face barriers to considering ethical and societal implications of research. We categorized these barriers as falling into four broad domains: (1) lack of awareness of ethical and societal implications; (2) lack of relevance of such concerns to their specific research; (3) self-confidence in their ability to ...

Integrating stakeholder perspectives into the translation of cell-free fetal DNA testing for aneuploidy

Abstract: The translation of novel genomic technologies from bench to bedside enjoins the comprehensive consideration of the perspectives of all stakeholders who stand to influence, or be influenced by, the translational course. Non-invasive prenatal aneuploidy testing that utilizes cell-free fetal DNA (cffDNA) circulating in maternal blood is one example of an innovative technology that promises significant benefits for its intended end users; however, it is currently uncertain whether it will achieve widespread clinical implementation. We conducted qualitative interviews with 18 diverse stakeholders in this domain, including prospective users of the technology and healthcare personnel, researchers and developers, and experts in social, legal, and regulatory aspects of genetic technology, and a pilot survey of 62 obstetric healthcare providers. Analysis of interview and survey data was combined with a review of the proceedings of a full-day, multidisciplinary conference on the topic and published scientific and ethics literature surrounding this and other relevant technologies. We constructed potential pathways for technological implementation, identified broad stakeholder classes party to these translational processes, and performed a preliminary assessment of the viewpoints and interrelations among these diverse stakeholders. Some of the stakeholders whose priorities are critical to understand and integrate into translation include pregnant women and their families; healthcare providers; scientists, their institutions or companies, and the funding agencies that support them; regulatory and judicial bodies; third-party payers; professional societies; educational systems; disability rights communities; and other representatives from civil society. Stakeholder interviews, survey findings, and conference proceedings add complexity to these envisioned pathways and also demonstrate a paramount need to incorporate an iterative stakeholder analysis early and throughout the translational endeavor. We believe that the translational framework that we have developed will help guide crucial future stakeholder mapping and engagement activities for cffDNA aneuploidy testing and inform novel methods of technology assessment for other developments in the growing field of genomic medicine. Mapping potential pathways for implementation and exploring the attitudes and interrelations of diverse stakeholders may lead to more effective translation of a novel method of prenatal aneuploidy testing.

Triggers for Research Ethics Consultation

Abstract: Research ethics consultation services are designed to help scientists address ethical and societal issues that may not be considered in the context of existing regulatory frameworks, such as institutional review boards. Here, we identify some types of biomedical research for which the research process can benefit from consultation with ethicists.

Informational risk, institutional review, and autonomy in the proposed changes to the common rule.

Abstract: n 2011, the U.S. Department of Health and Human Services (HHS) proposed changes to its regulations governing research with humans (the Common Rule), which apply to all federally funded research. The proposed changes represent a valuable step in updat-ing regulatory protections for research participants to reflect challenges that have arisen over the last 30 years.

In the Public Interest

Abstract: Restrictive patenting and licensing for cell-free fetal DNA testing has serious consequences for technology advances and benefits to public health.

Managing Incidental Findings and Research Results in Genomic Research Involving Biobanks and Archived Data Sets

Abstract: Biobanks and archived data sets collecting samples and data have become crucial engines of genetic and genomic research. Unresolved, however, is what responsibilities biobanks should shoulder to manage incidental findings and individual research results of potential health, reproductive, or personal importance to individual contributors (using “biobank” here to refer both to collections of samples and collections of data). This article reports recommendations from a 2-year project funded by the National Institutes of Health. We analyze the responsibilities involved in managing the return of incidental findings and individual research results in a biobank research system (primary research or collection sites, the biobank itself, and secondary research sites). We suggest that biobanks shoulder significant responsibility for seeing that the biobank research system addresses the return question explicitly. When reidentification of individual contributors is possible, the biobank should work to enable the biobank research system to discharge four core responsibilities to (1) clarify the criteria for evaluating findings and the roster of returnable findings, (2) analyze a particular finding in relation to this, (3) reidentify the individual contributor, and (4) recontact the contributor to offer the finding. We suggest that findings that are analytically valid, reveal an established and substantial risk of a serious health condition, and are clinically actionable should generally be offered to consenting contributors. This article specifies 10 concrete recommendations, addressing new biobanks as well as those already in existence.

ELSI Research and Genetics: A Co-Evolution

Abstract: In April 2011, the Center for Genomics and Society at the University of North Carolina-Chapel Hill hosted a conference entitled “Exploring the ELSI Universe.”1 Although “ELSI,” the acronym for “ethical, legal, and social implications” used primarily in the US, does not spell out the source of these implications, such specification is now unnecessary. ELSI has taken on a life of its own that can be understood in terms of its origins in the Human Genome Project twenty-one years ago, as well as its generalization to any biologically-related science or technology. ELSI has inspired similar research programs, including GE3LS (Genomics-Related Ethical, Environmental, Economic, Legal and Social Research) in Canada and ELSA (Ethical, Legal and Social Aspects of the Life Sciences and Technology) in the EU. The organizers of this conference redefined the acronym in ways that reflect the evolution of the concept: Expanding, Linking, Specializing, and Internationalizing. Expanding—how has ELSI research expanded? Linking—how does ELSI relate to other areas of science and technology? Specializing—which areas of ELSI research would benefit from a deeper focus? Internationalizing—how should ELSI address global and local issues? This issue of AJOB Primary Research reports some of the work presented at this conference and reflects the maturation of ELSI as a field as well as the maturation of genetic research. Trinidad and colleagues (2012) and Brothers and Clayton (2012) both study the time-honored issue of informed consent for genomic research. However, these studies represent a shift from ELSI research operating independently from the scientific or clinical context and toward a concurrent and coordinated approach in which ELSI research is more proactively targeted at answering specific policy questions raised by research projects or their clinical applications. This approach requires close collaboration with scientific researchers for logistical coordination and to assure that the ELSI studies are relevant and conceptually on target. These studies, the results of which were both obtained from