PMCC PMCC

Search tips
Search criteria

Advanced
Results 1-25 (57)
 

Clipboard (0)
None

Select a Filter Below

Journals
more »
Year of Publication
more »
1.  RETURN OF RESULTS: ETHICAL AND LEGAL DISTINCTIONS BETWEEN RESEARCH AND CLINICAL CARE 
The return of individual results to research participants has been vigorously debated. Consensus statements indicate that researchers and bioethicists consider the return of research results most appropriate when the findings are clinically relevant. Even when clinical utility is the motivator, however, the return of individual research results is not equivalent to clinical care. There are important differences in the domains of research and medical care, both from a legal standpoint and in terms of the ethical responsibilities of clinicians and researchers. As a corollary, researchers risk promoting a therapeutic misconception if they create quasi-clinical settings for return of clinically relevant research results. Rather, efforts should be focused on clarity in the provision of research results, appropriate caveats and, most important, appropriate referrals when the results may be helpful to consider in medical care.
doi:10.1002/ajmg.c.31393
PMCID: PMC4078921  PMID: 24616381
Genetic research results; medical practice; CLIA; HIPAA
2.  Primary Care Physicians’ Access to Genetic Specialists – An Impediment to the Routine Use of Genomic Medicine? 
Purpose
The field of genomic medicine is moving beyond the domain of medical specialties into general care. As a result, primary care practitioners (PCPs) will be faced with questions regarding the interpretation, use, and application of genetic and genomic testing. Several studies have demonstrated the variable knowledge of PCPs, but few have assessed PCPs access to genetic specialists and how that may influence test use. As part of a survey of PCPs on pharmacogenetic testing, we assessed PCP access to genetic specialists and its association with referrals and test ordering.
Methods
We conducted an online/mail survey of a national sample of PCPs in the U.S.
Results
Survey data indicate that PCP access to genetic specialists is limited, particularly to those practicing outside of academic medical centers, negatively impacting test ordering practices.
Conclusion
Given the small number of clinical genetic specialists, collaborative approaches are needed to develop educational and clinical resources to prepare and guide the safe and appropriate use of testing by future and current general practitioners, respectively.
doi:10.1038/gim.2012.168
PMCID: PMC3731758  PMID: 23306802
Primary Care Physicians; Genetic Specialists; Access; Genomic Medicine
3.  Risk, Reward, and the Double-Edged Sword: Perspectives on Pharmacogenetic Research and Clinical Testing Among Alaska Native People 
American journal of public health  2013;103(12):2220-2225.
Objectives
Pharmacogenetic research and clinical testing raise important concerns for individuals and communities, especially where past medical research and practice has perpetrated harm and cultivated distrust of health care systems and clinicians. We investigated perceptions of pharmacogenetics among Alaska Native (AN) people.
Methods
We held four focus groups for 32 ANs in south central Alaska to elicit views about pharmacogenetics in general and for treatment of cardiovascular disease, breast cancer, depression, and nicotine addiction. We analyzed data for perceived risks and rewards of pharmacogenetics.
Results
Potential risks of pharmacogenetics included health care rationing, misuse of information, and stigma to individuals and the AN community. Potential rewards included decreased care costs, improved outcomes, and community development. Participants also discussed 8 contingent conditions that could mitigate risks and increase pharmacogenetic acceptability.
Conclusions
Alaska Natives perceive pharmacogenetics as potentially benefitting and harming individuals, communities, and health systems, depending on methods and oversight. Researchers, clinicians, and administrators, especially in community-based clinic and health care systems serving minority populations, must address this “double-edged sword” to effectively conduct pharmacogenetics.
doi:10.2105/AJPH.2013.301596
PMCID: PMC3828986  PMID: 24134351
4.  Return of Incidental Findings in Genomic Medicine: Measuring What Patients Value 
Purpose
Little is known about factors that influence patients’ preferences for the return of incidental findings from genome sequencing. This study identified attributes of incidental findings that were important to patients and developed a discrete choice experiment (DCE) instrument to quantify patient preferences.
Methods
An initial set of key attributes and attribute levels was developed from a literature review and in consultation with experts. The attributes’ salience and communication were refined using focus group methodology (N=12) and cognitive interviews (N=6) with patients who had received conventional genetic testing for familial colorectal cancer or polyposis syndromes. The attributes and levels used in the hypothetical choices presented to participants were identified using validated experimental design techniques.
Results
The final DCE instrument incorporates the following attributes and levels: lifetime risk of disease (5%, 40%, 70%); disease treatability (medical, lifestyle, none); disease severity (mild, moderate, severe); carrier status (yes, no); drug response likelihood (high, moderate, none), and test cost ($250, $425, $1000, $1900).
Conclusion
Patient preferences for incidental genomic findings are likely influenced by a complex set of diverse attributes. Quantification of patient preferences can inform patient-provider communication by highlighting the attributes of incidental findings that matter most to patients and warrant further discussion.
doi:10.1038/gim.2013.63
PMCID: PMC3823641  PMID: 23722871
5.  Recommendations for returning genomic incidental findings? We need to talk! 
The American College of Medical Genetics and Genomics recently issued recommendations for reporting incidental findings from clinical whole-genome sequencing and whole-exome sequencing. The recommendations call for evaluating a specific set of genes as part of all whole-genome sequencing/whole-exome sequencing and reporting all pathogenic variants irrespective of patient age. The genes are associated with highly penetrant disorders for which treatment or prevention is available. The effort to generate a list of genes with actionable findings is commendable, but the recommendations raise several concerns. They constitute a call for opportunistic screening, through intentional effort to identify pathogenic variants in specified genes unrelated to the clinical concern that prompted testing. Yet for most of the genes, we lack evidence about the predictive value of testing, genotype penetrance, spectrum of phenotypes, and efficacy of interventions in unselected populations. Furthermore, the recommendations do not allow patients to decline the additional findings, a position inconsistent with established norms. Finally, the recommendation to return adult-onset disease findings when children are tested is inconsistent with current professional consensus, including other policy statements of the American College of Medical Genetics and Genomics. Instead of premature practice recommendations, we call for robust dialogue among stakeholders to define a pathway to normatively sound, evidence-based guidelines.
doi:10.1038/gim.2013.113
PMCID: PMC3832423  PMID: 23907645
6.  Seeking Genomic Knowledge: The Case for Clinical Restraint† 
The Hastings law journal  2013;64(6):1650-1664.
Genome sequencing technology provides new and promising tests for clinical practice, including whole genome sequencing, which measures an individual’s complete DNA sequence, and whole exome sequencing, which measures the DNA for all genes coding for proteins. These technologies make it possible to test for multiple genes in a single test, which increases the efficiency of genetic testing. However, they can also produce large amounts of information that cannot be interpreted or is of limited clinical utility. This additional information could be distracting for patients and clinicians, and contribute to unnecessary healthcare costs. The potential for genomic sequencing to improve care will be context-dependent, varying for different patients and clinical settings. This Article argues that a disciplined approach is needed, incorporating research to assess when and how genomic information can improve clinical outcomes, practice guidelines that direct optimal uses of genomic sequencing, and efforts to limit the production of genomic information unrelated to the clinical needs of the patient. Without this approach, genomic testing could add to current unsustainable healthcare costs and prove unaffordable in the long run.
PMCID: PMC3969739  PMID: 24688162
7.  From Leaky Pipeline to Irrigation System: Minority Education through the Lens of Community-Based Participatory Research 
Background
Higher education has long made efforts to increase underrepresented minority participation in biomedical research and health fields. However, relatively few minority trainees complete advanced degrees or proceed to independent research careers, a loss referred to as the “leaky pipeline.” Minority trainees may take alternate pathways to climbing the academic ladder, exiting to pursue multiple disciplinary or community-serving roles.
Objective
The authors propose a model for understanding minority departures from the education pipeline as a basis for nurturing careers that support community goals for health.
Methods
Concepts of the traditional pipeline training model are compared with a model that aligns with CBPR principles and practices. The article describes an irrigation model that incorporates informal learning from academic and community knowledge bases to prepare trainees for CBPR and interdisciplinary research. Students serve as agents that foster individual, institutional and social change needed to address health problems while attending to root causes of disparities.
Conclusions
Viewing minority students as agents for community engagement allows institutions to reassess the role training can play in diversifying participation in higher education and research. An irrigation model supports development of an infrastructure that optimizes success at all post-secondary levels, and enhances CBPR capacity wherever trainees live, work, and learn. Linking formal education to informal learning in context of community-based participatory research experiences can also reduce community mistrust of research while nurturing productive research partnerships with communities to address health disparities.
doi:10.1353/cpr.2012.0055
PMCID: PMC3951382  PMID: 23221293
8.  Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium 
As genomic and exomic testing expands in both the research and clinical arenas, determining whether, how, and which incidental findings to return to the ordering clinician and patient becomes increasingly important. Although opinion is varied on what should be returned to consenting patients or research participants, most experts agree that return of medically actionable results should be considered. There is insufficient evidence to fully inform evidence-based clinical practice guidelines regarding return of results from genome-scale sequencing, and thus generation of such evidence is imperative, given the rapidity with which genome-scale diagnostic tests are being incorporated into clinical care. We present an overview of the approaches to incidental findings by members of the Clinical Sequencing Exploratory Research network, funded by the National Human Genome Research Institute, to generate discussion of these approaches by the clinical genomics community. We also report specific lists of “medically actionable” genes that have been generated by a subset of investigators in order to explore what types of findings have been included or excluded in various contexts. A discussion of the general principles regarding reporting of novel variants, challenging cases (genes for which consensus was difficult to achieve across Clinical Sequencing Exploratory Research network sites), solicitation of preferences from participants regarding return of incidental findings, and the timing and context of return of incidental findings are provided.
doi:10.1038/gim.2013.133
PMCID: PMC3935342  PMID: 24195999
actionability; actionable genes; clinical sequencing; genomic medicine; incidental findings
9.  Managing Incidental Genomic Findings: Legal Obligations of Clinicians 
Purpose
Clinical whole exome and whole genome sequencing will result in a broad range of incidental findings (IFs), but clinicians’ obligations to identify and disclose such findings are a matter of debate. We sought legal cases that could offer insights into clinicians’ legal liability.
Methods
We searched for cases in which IFs were related to the cause of action, using the search engines WestLaw, WestLaw Next, Lexis, and Lexis Advance.
Results
We found no case law related to IFs from genetic testing, but identified eight cases involving IFs in medical imaging. These cases suggest that clinicians may face liability for failing to disclose IFs that would have offered an opportunity for interventions to improve health outcome, if (1) under the applicable standard of care, they fail to identify or appreciate the significance of the IF; or 2) they negligently fail to notify other clinicians and/or the patient of the identified IF. Other cases support liability for failure to refer appropriately to a clinician with greater expertise.
Conclusions
Clinicians may face liability if they fail to disclose incidental information that could inform interventions to improve health outcome; information lacking clinical actionability is likely to have less import.
doi:10.1038/gim.2013.7
PMCID: PMC3805501  PMID: 23448723
10.  Next Generation Sequencing in the Clinic: Are we Ready? 
Nature reviews. Genetics  2012;13(11):818-824.
doi:10.1038/nrg3357
PMCID: PMC3891793  PMID: 23076269
11.  Maternal Perspectives on the Return of Genetic Results: Context Matters 
The objectives of this study were to study maternal preferences for the return of their child’s genetic results and to describe the experiences, perceptions, attitudes and values that are brought to bear when individuals from different racial and cultural backgrounds consider participating in genetic research. We recruited women with diverse sociodemographic profiles to participate in seven focus groups. Twenty-eight percent of participants self-identified as Hispanic; 49% as White, Non-Hispanic; and 21% as Asian or Asian American. Focus groups were conducted in English or Spanish and were audio-recorded and transcribed verbatim. Transcripts were analyzed using qualitative thematic methods. Results indicated that preferences and decisions regarding the return of results may depend on both research and individual contextual factors. Participants understood the return of results as a complex issue, where individual and cultural differences in preferences are certain to arise. Another key finding was that participants desired an interpersonal, dynamic, flexible process that accommodated individual preferences and contextual differences for returning results. Our findings indicate a need to have well-developed systems for allowing participants to make and change over time their choices regarding the return of their child’s genetic results.
doi:10.1002/ajmg.a.35673
PMCID: PMC3535554  PMID: 23239553
genomic; genetic; research participation; return of results; context
12.  Primary Care Physicians’ Knowledge of and Experience with Pharmacogenetic Testing 
Clinical genetics  2012;82(4):388-394.
It is anticipated that as the range of drugs for which pharmacogenetic testing becomes available expands, primary care physicians (PCPs) will become major users of these tests. To assess their training, familiarity, and attitudes toward pharmacogenetic testing in order to identify barriers to uptake that may be addressed at this early stage of test use, we conducted a national survey of a sample of PCPs. Respondents were mostly white (79%), based primarily in community-based primary care (81%) and almost evenly divided between family medicine and internal medicine. The majority of respondents had heard of PGx testing and anticipated that these tests are or would soon become a valuable tool to inform drug response. However, only a minority of respondents (13%) indicated they felt comfortable ordering PGx tests and almost a quarter reported not having any education about pharmacogenetics.
CONCLUSIONS
Our results indicate that primary care practitioners envision a major role for themselves in the delivery of PGx testing but recognize their lack of adequate knowledge and experience about these tests. Development of effective tools for guiding PCPs in the use of PGx tests should be a high priority.
doi:10.1111/j.1399-0004.2012.01908.x
PMCID: PMC3440554  PMID: 22698141
13.  Return of Individual Research Results from Genome-wide Association Studies: Experience of the Electronic Medical Records & Genomics (eMERGE) Network 
Purpose
Return of individual genetic results to research participants, including participants in archives and biorepositories, is receiving increased attention. However, few groups have deliberated on specific results or weighed deliberations against relevant local contextual factors.
Methods
The Electronic Medical Records and GEnomics (eMERGE) network, which includes five biorepositories conducting genome-wide association studies, convened a Return of Results Oversight Committee (RROC) to identify potentially returnable results. Network-wide deliberations were then brought to local constituencies for final decision-making.
Results
Defining results that should be considered for return required input from clinicians with relevant expertise and much deliberation. The RROC identified two sex chromosomal anomalies, Klinefelter Syndrome and Turner Syndrome, as well as homozygosity for Factor V Leiden, as findings that could warrant reporting. Views about returning HFE gene mutations associated with hemochromatosis were mixed due to low penetrance. Review of EMRs suggested that most participants with detected abnormalities were unaware of these findings. Local considerations relevant to return varied and, to date, four sites have elected not to return findings (return was not possible at one site).
Conclusion
The eMERGE experience reveals the complexity of return of results decision-making and provides a potential deliberative model for adoption in other collaborative contexts.
doi:10.1038/gim.2012.15
PMCID: PMC3723451  PMID: 22361898
Result return; biorepository; electronic medical records; deliberation; context
15.  Informed Consent in Genome-Scale Research: What Do Prospective Participants Think? 
AJOB primary research  2012;3(3):3-11.
Background
To promote effective genome-scale research, genomic and clinical data for large population samples must be collected, stored, and shared.
Methods
We conducted focus groups with 45 members of a Seattle-based integrated healthcare delivery system to learn about their views and expectations for informed consent in genome-scale studies.
Results
Participants viewed information about study purpose, aims, and how and by whom study data could be used to be at least as important as information about risks and possible harms. They generally supported a tiered consent approach for specific issues, including research purpose, data sharing, and access to individual research results. Participants expressed a continuum of opinions with respect to the acceptability of broad consent, ranging from completely acceptable to completely unacceptable. Older participants were more likely to view the consent process in relational – rather than contractual – terms, compared with younger participants. The majority of participants endorsed seeking study subjects’ permission regarding material changes in study purpose and data sharing.
Conclusions
Although this study sample was limited in terms of racial and socioeconomic diversity, our results suggest a strong positive interest in genomic research on the part of at least some prospective participants and indicate a need for increased public engagement, as well as strategies for ongoing communication with study participants.
doi:10.1080/21507716.2012.662575
PMCID: PMC3593675  PMID: 23493836
Informed consent; participant views; genomic research; biobank; research ethics
16.  Offering Aggregate Results to Participants in Genomic Research: Opportunities and Challenges 
Although issues involved in offering individual results to participants in genomic research have received considerable attention, communication of aggregate results has been the subject of relatively little ethical analysis. Offering participants aggregate results is typically assumed to be a good thing, and studies have found that a significant majority of biobank research participants, when asked about their interest in aggregate results, say that access to such information would be important. Even so, return of aggregate results remains a relatively uncommon practice.
In this paper, we explore the opportunities involved in communicating aggregate results to participants in genomic research, including affirming the value of research participation, informing participants about research being conducted based on broad consent for future unspecified research, educating participants and the public about the research process, and building trust in the research enterprise. We also explore some of the challenges, including the complex intersection between individual and aggregate results, as well as practical hurdles. We conclude by offering our preliminary recommendations concerning the provision of aggregate results and an agenda for much-needed future research.
doi:10.1038/gim.2011.62
PMCID: PMC3612423  PMID: 22261761
Research results; aggregate results; research participants; trust; education; informed consent
17.  Diverse Perceptions of the Informed Consent Process: Implications for the Recruitment and Participation of Diverse Communities in the National Children’s Study 
We examined the experiences, perceptions, and values that are brought to bear when individuals from different ethnic and cultural backgrounds consider participating in health research. Fifty-three women from Latino, Asian American, Middle Eastern, or Non-Latino, White backgrounds participated in seven English or Spanish focus groups facilitated by trained investigators using a standard protocol. Investigators described the National Children’s Study (NCS) and then asked questions to elicit potential concerns, expectations, and informational needs. Group sessions were audio-recorded, transcribed verbatim, and analyzed using qualitative thematic methods. A major theme that emerged during focus groups was participant self-identification as a member of a cultural group or community when raising issues that would influence their decision to participate in research. A related theme was the belief by some that communities may differ in the ease of participation in the NCS. Identified themes related to the informed consent process included perceived risks, anticipated burden, perceived benefits, informational needs, and decision-making strategies. Although themes were shared across groups, there were cultural differences within themes. Findings indicated that individuals from diverse backgrounds may have different perspectives on and expectations for the research process. To effectively recruit representative samples, it will be important to address a range of issues relevant for informed consent and to consider the impact of participation on both individuals and communities.
doi:10.1007/s10464-011-9450-1
PMCID: PMC3575189  PMID: 21671109
Informed consent; Research participation; Diversity; Culture; Recruitment; National Children’s Study
18.  Genetics researchers’ and iRB professionals’ attitudes toward genetic research review: a comparative analysis 
Purpose
Genetic research involving human participants can pose challenging questions related to ethical and regulatory standards for research oversight. However, few empirical studies describe how genetic researchers and institutional review board (IRB) professionals conceptualize ethical issues in genetic research or where common ground might exist.
Methods
Parallel online surveys collected information from human genetic researchers (n = 351) and IRB professionals (n = 208) regarding their views about human participant oversight for genetic protocols.
Results
A range of opinions were observed within groups on most issues. In both groups, a minority thought it likely that people would be harmed by participation in genetic research or identified from coded genetic data. A majority of both groups agreed that reconsent should be required for four of the six scenarios presented. Statistically significant differences were observed between groups on some issues, with more genetic researcher respondents trusting the confidentiality of coded data, fewer expecting harms from reidentification, and fewer considering reconsent necessary in certain scenarios.
Conclusions
The range of views observed within and between IRB and genetic researcher groups highlights the complexity and unsettled nature of many ethical issues in genome research. Our findings also identify areas where researcher and IRB views diverge and areas of common ground.
doi:10.1038/gim.2011.57
PMCID: PMC3448270  PMID: 22241102
comparison; genetics; human genomics; identifiability; institutional review board; reconsent; survey
19.  Researcher Perspectives on Disclosure of Incidental Findings in Genetic Research 
Genetic research can produce information that is beyond the aims of the research study yet may be of clinical or personal interest to study participants. We conducted semi-structured interviews with 44 researchers who were asked to describe how they would respond to a hypothetical vignette regarding the disclosure of findings with unanticipated clinical significance to research study participants. Interviews were transcribed and analyzed using content and thematic analyses. Researchers’ decision-making processes about whether to disclose incidental findings were governed by potentially conflicting duties in three primary domains: information quality, adherence to rules, and participant welfare. There are several actions researchers can take to prepare for incidental findings, including: adding specific language in informed consent documents to state clearly how investigators will handle disclosure; exploring how prepared participants might be during the consent process to make decisions about how they would like to be approached in the event of incidental findings; developing procedures for appropriately communicating individual results and providing follow-up support based on participant preferences; and, in genetic research, having an awareness of the range of traits expressed by the genes under study.
doi:10.1525/jer.2010.5.3.31
PMCID: PMC3413406  PMID: 20831419
incidental findings; genetic studies; decision-making processes; communication of results; disclosure; qualitative research; vignette study
20.  Genetic Screening 
Epidemiologic Reviews  2011;33(1):148-164.
Current approaches to genetic screening include newborn screening to identify infants who would benefit from early treatment, reproductive genetic screening to assist reproductive decision making, and family history assessment to identify individuals who would benefit from additional prevention measures. Although the traditional goal of screening is to identify early disease or risk in order to implement preventive therapy, genetic screening has always included an atypical element—information relevant to reproductive decisions. New technologies offer increasingly comprehensive identification of genetic conditions and susceptibilities. Tests based on these technologies are generating a different approach to screening that seeks to inform individuals about all of their genetic traits and susceptibilities for purposes that incorporate rapid diagnosis, family planning, and expediting of research, as well as the traditional screening goal of improving prevention. Use of these tests in population screening will increase the challenges already encountered in genetic screening programs, including false-positive and ambiguous test results, overdiagnosis, and incidental findings. Whether this approach is desirable requires further empiric research, but it also requires careful deliberation on the part of all concerned, including genomic researchers, clinicians, public health officials, health care payers, and especially those who will be the recipients of this novel screening approach.
doi:10.1093/epirev/mxr008
PMCID: PMC3166195  PMID: 21709145
genetic testing; genetics, medical; genomics; heterozygote detection; neonatal screening; prenatal diagnosis
21.  Genetic counseling and testing for Alzheimer disease: Joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors 
Genetics in Medicine  2011;13(6):597-605.
Alzheimer disease is the most common cause of dementia. It occurs worldwide and affects all ethnic groups. The incidence of Alzheimer disease is increasing due, in part, to increased life expectancy and the aging baby boomer generation. The average lifetime risk of developing Alzheimer disease is 10–12%. This risk at least doubles with the presence of a first-degree relative with the disorder. Despite its limited utility, patients express concern over their risk and, in some instances, request testing. Furthermore, research has demonstrated that testing individuals for apoli-poprotein E can be valuable and safe in certain contexts. However, because of the complicated genetic nature of the disorder, few clinicians are prepared to address the genetic risks of Alzheimer disease with their patients. Given the increased awareness in family history thanks to family history campaigns, the increasing incidence of Alzheimer disease, and the availability of direct to consumer testing, patient requests for information is increasing. This practice guideline provides clinicians with a framework for assessing their patients’ genetic risk for Alzheimer disease, identifying which individuals may benefit from genetic testing, and providing the key elements of genetic counseling for AD.
doi:10.1097/GIM.0b013e31821d69b8
PMCID: PMC3326653  PMID: 21577118
Alzheimer disease; dementia; guideline; genetic testing; genetic counseling
22.  A Formal Risk-Benefit Framework for Genomic Tests: Facilitating the Appropriate Translation of Genomics Into Clinical Practice 
Genetics in Medicine  2010;12(11):686-693.
Purpose
Evaluation of genomic tests is often challenging because of the lack of direct evidence of clinical benefit compared to usual care and unclear evidence requirements. To address these issues, this study presents a risk-benefit framework for assessing the health-related utility of genomic tests.
Methods
We incorporated approaches from a variety of established fields, including decision science, outcomes research, and health technology assessment to develop the framework. Additionally, we considered genomic test stakeholder perspectives and case studies.
Results
We developed a 3-tiered framework: first, we use decision-analytic modeling techniques to synthesize data, project incidence of clinical events, and assess uncertainty. Second, we define the health-related utility of genomic tests as improvement in health outcomes as measured by clinical event rates, life expectancy, and quality-adjusted life-years (QALYs). Finally, we display results using a risk-benefit policy matrix to facilitate the interpretation and implementation of findings from these analyses.
Conclusion
A formal risk-benefit framework may accelerate the utilization and practice-based evidence development of genomic tests that pose low risk and offer plausible clinical benefit, while discouraging premature use of tests that provide little benefit or pose significant health risks compared to usual care
doi:10.1097/GIM.0b013e3181eff533
PMCID: PMC3312796  PMID: 20808229
23.  Stakeholder Perspectives on a Risk-Benefit Framework for Genetic Testing 
Public Health Genomics  2010;14(2):59-67.
A key to accelerating the appropriate integration of genomic applications into healthcare in the coming decades will be the ability to assess the tradeoffs between clinical benefits and clinical risks of genetic tests in a timely manner. Several factors limit the ability of stakeholders to achieve this objective, including the lack of direct evidence, the lack of a framework to quantitatively assess risk and benefit, and the lack of a formal analytic approach to assess uncertainty. We propose that a formal, quantitative risk-benefit framework may be particularly useful for assessing genetic tests intended to influence health outcomes, and communicating the potential clinical benefits, harms, and uncertainty to stakeholders. As part of the development process for such a framework, a stakeholder meeting was held in Seattle (Wash., USA) in December of 2008, with the objective of discussing a risk-benefit framework, using warfarin pharmacogenomics as a case study. Participants engaged in focused discussion to elucidate the potential role of genetic test risk-benefit analysis in informing decision-making, categorizing genetic tests and directing research prioritization. This research investigation focuses on qualitative analysis of responses elicited from workshop participants during the proceedings of the workshop session. The major findings of the workshop were: (1) stakeholder support for risk-benefit modeling as a tool to structure discussion of the clinical utility of genetic tests; (2) desire for the modeling process to be iterative, transparent, and parsimonious in its presentation to stakeholders, and (3) some concern with the use of quality-adjusted life-years in the evaluation process. The meeting's findings emphasize the potential utility of risk-benefit analysis in genetic test evaluation, and highlight key areas for future research and stakeholder consensus-building.
doi:10.1159/000290452
PMCID: PMC3214932  PMID: 20407215
Genetic testing; Pharmacogenomics; Quality-adjusted life years; Risk-benefit; Stakeholder; Warfarin
24.  Practical Ethics: Establishing a pathway to benefit for complex pharmacogenomic tests 
doi:10.1038/clpt.2011.71
PMCID: PMC3234687  PMID: 21691271
pharmacogenomic testing; clinical trials; review
25.  Health System Implications of Direct-to-Consumer Personal Genome Testing 
Public Health Genomics  2010;14(1):53-58.
Direct-to-consumer personal genome testing is now widely available to consumers. Proponents argue that knowledge is power but critics worry about consumer safety and potential harms resulting from misinterpretation of test information. In this article, we consider the health system implications of direct-to-consumer personal genome testing, focusing on issues of accountability, both corporate and professional.
doi:10.1159/000321962
PMCID: PMC3025885  PMID: 21071927
Consumer safety; DNA test kit; Personal genome testing, direct-to-consumer

Results 1-25 (57)