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1.  Efficient Identification and Referral of Low-Income Women at High Risk for Hereditary Breast Cancer: A Practice-Based Approach 
Public Health Genomics  2012;15(3-4):172-180.
Identification of low-income women with the rare but serious risk of hereditary cancer and their referral to appropriate services presents an important public health challenge. We report the results of formative research to reach thousands of women for efficient identification of those at high risk and expedient access to free genetic services. External validity is maximized by emphasizing intervention fit with the two end-user organizations who must connect to make this possible. This study phase informed the design of a subsequent randomized controlled trial.
We conducted a randomized controlled pilot study (n = 38) to compare two intervention models for feasibility and impact. The main outcome was receipt of genetic counseling during a two-month intervention period. Model 1 was based on the usual outcall protocol of an academic hospital genetic risk program, and Model 2 drew on the screening and referral procedures of a statewide toll-free phone line through which large numbers of high-risk women can be identified. In Model 1, the risk program proactively calls patients to schedule genetic counseling; for Model 2, women are notified of their eligibility for counseling and make the call themselves. We also developed and pretested a family history screener for administration by phone to identify women appropriate for genetic counseling.
There was no statistically significant difference in receipt of genetic counseling between women randomized to Model 1 (3/18) compared with Model 2 (3/20) during the intervention period. However, when unresponsive women in Model 2 were called after 2 months, 7 more obtained counseling; 4 women from Model 1 were also counseled after the intervention. Thus, the intervention model that closely aligned with the risk program's outcall to high-risk women was found to be feasible and brought more low-income women to free genetic counseling. Our screener was easy to administer by phone and appeared to identify high-risk callers effectively. The model and screener are now in use in the main trial to test the effectiveness of this screening and referral intervention. A validation analysis of the screener is also underway.
Identification of intervention strategies and tools, and their systematic comparison for impact and efficiency in the context where they will ultimately be used are critical elements of practice-based research.
PMCID: PMC3362189  PMID: 22488460
BRCA; Disparities; Hereditary breast and ovarian cancer; Low income; Practice-based research
2.  Implications of Internet Availability of Genomic Information for Public Health Practice 
Public Health Genomics  2012;15(3-4):201-208.
Tensions in the field have emerged over how best to communicate to the public about genomic discoveries in an era of direct-to-consumer (DTC) DNA testing services available through the Internet. Concerns over what the psychological and behavioral response might be to a nuanced, multiplex risk message have spurred some to offer caution in communicating to the public about personalized risk until the necessary research has been completed on how to communicate effectively. The popularization of DTC testing services, along with a spreading Internet culture on transparency for personal data, may make ‘waiting to communicate’ a moot point. To steer communication efforts in the midst of increasing access to personal genomic information, a self-regulation framework is presented. The framework emphasizes the importance of presenting a coherent message in all communiqués about public health genomics. Coherence should be based on an evidence-based model of how the public processes information about health conditions and an emphasis on risk-to-action links. Recommendations from the President's Council of Advisors for Science and Technology are reviewed as a way of identifying targets of opportunity for structured communications both within the healthcare system and in the broader external ecosystem of publicly available health information technologies.
PMCID: PMC3362218  PMID: 22488463
Direct-to-consumer advertising; Health communication; Internet; Self-regulation
3.  Genetics Blogs as a Public Health Tool: Assessing Credibility and Influence 
Public Health Genomics  2012;15(3-4):218-225.
The Internet is becoming an important source of information about genetics and holds promise for public health applications. However, the public has concerns about the credibility of online genetics information. We conducted a content analysis of genetics blogs (n = 94). Specifically, we assessed the prevalence of various genetics-related topics and perceived credibility indicators. The relationship between content indicators, credibility indicators, and blog influence, measured as links between blogs, was evaluated. Coverage of issues related to health or self-knowledge (31%) and life science (26%) was most common among genetics blogs. In terms of credibility indicators, most blogs disclosed authors’ full names (81%) and biographical information (67%). Many blog authors reported having genetics (67%) or life science expertise (59%). However, only 7% of blogs were affiliated with educational or medical institutions. Overall, blogs that focused on ancestry, that had authors with life science expertise, and that posted more frequently tended to be more influential. Findings suggest that life scientists and those who blog frequently may figure more centrally in shaping the genetics information available to the public via blogs. There is room for institutions that are likely to be perceived as credible sources of genetics information to assume a greater presence through blogs.
PMCID: PMC3362290  PMID: 22488465
4.  Finding a Place for Genomics in Health Disparities Research 
Public Health Genomics  2012;15(3-4):156-163.
The existence of pronounced differences in health outcomes between US populations is a problem of moral significance and public health urgency. Pursuing research on genetic contributors to such disparities, despite striking data on the fundamental role of social factors, has been controversial. Still, advances in genomic science are providing an understanding of disease biology at a level of precision not previously possible. The potential for genomic strategies to help in addressing population-level disparities therefore needs to be carefully evaluated. Using 3 examples from current research, we argue that the best way to maximize the benefits of population-based genomic investigations, and mitigate potential harms, is to direct research away from the identification of genetic causes of disparities and instead focus on applying genomic methodologies to the development of clinical and public health tools with the potential to ameliorate healthcare inequities, direct population-level health interventions or inform public policy. Such a transformation will require close collaboration between transdisciplinary teams and community members as well as a reorientation of current research objectives to better align genomic discovery efforts with public health priorities and well-recognized barriers to fair health care delivery.
PMCID: PMC3685214  PMID: 22488458
Benefit; Bioethics; Genomics; Health care; Health disparities; Research policy
5.  Balancing the Risks and Benefits of Genomic Data Sharing: Genome Research Participants’ Perspectives 
Public Health Genomics  2011;15(2):106-114.
Technological advancements are rapidly propelling the field of genome research forward, while lawmakers attempt to keep apace with the risks these advances bear. Balancing normative concerns of maximizing data utility and protecting human subjects, whose privacy is at risk due to the identifiability of DNA data, are central to policy decisions. Research on genome research participants making real-time data sharing decisions is limited; yet, these perspectives could provide critical information to ongoing deliberations.
We conducted a randomized trial of 3 consent types affording varying levels of control over data release decisions. After debriefing participants about the randomization process, we invited them to a follow-up interview to assess their attitudes toward genetic research, privacy and data sharing.
Participants were more restrictive in their reported data sharing preferences than in their actual data sharing decisions. They saw both benefits and risks associated with sharing their genomic data, but risks were seen as less concrete or happening in the future, and were largely outweighed by purported benefits.
Policymakers must respect that participants’ assessment of the risks and benefits of data sharing and their privacy-utility determinations, which are associated with their final data release decisions, vary. In order to advance the ethical conduct of genome research, proposed policy changes should carefully consider these stakeholder perspectives.
PMCID: PMC3318928  PMID: 22213783
Data sharing; Ethical issues; Genome research; Participant perspectives
6.  Skin Cancer Concerns and Genetic Risk Information-Seeking in Primary Care 
Public Health Genomics  2011;15(2):57-72.
Genomic testing for common genetic variants associated with skin cancer risk could enable personalized risk feedback to motivate skin cancer screening and sun protection.
In a cross-sectional study, we investigated whether skin cancer cognitions and behavioral factors, sociodemographics, family factors, and health information-seeking were related to perceived importance of learning about how (a) genes and (b) health habits affect personal health risks using classification and regression trees (CART).
The sample (n = 1,772) was collected in a large health maintenance organization as part of the Multiplex Initiative, ranged in age from 25–40, was 53% female, 41% Caucasian, and 59% African-American. Most reported that they placed somewhat to very high importance on learning about how genes (79%) and health habits (88%) affect their health risks. Social influence actors were associated with information-seeking about genes and health habits. Awareness of family history was associated with importance of health habit, but not genetic, information-seeking.
The investment of family and friends in health promotion may be a primary motivator for prioritizing information-seeking about how genes and health habits affect personal health risks and may contribute to the personal value, or personal utility, of risk information. Individuals who seek such risk information may be receptive to interventions aimed to maximize the social implications of healthy lifestyle change to reduce their health risks.
PMCID: PMC3318939  PMID: 21921576
Genetic information; Skin cancer concerns
7.  HER2 Evaluation and Its Impact on Breast Cancer Treatment Decisions 
Public Health Genomics  2011;15(1):1-10.
Background: Eighteen to twenty percent of breast cancer tumors show abnormal amplification of the Human Epidermal growth factor Receptor 2 (HER2) gene and increased expression of the associated protein. HER2 amplification is associated with rapid tumor proliferation and shorter disease-free and overall survival. Because women with HER2 amplification are more likely to benefit from treatment with the drug trastuzumab, testing for HER2 is recommended to guide therapy. However, little is known about use of HER2 testing in real-world settings. This study examined uptake, use, appropriateness of HER2 testing, and the relationship between HER2 test results and treatment decisions. Methods: We assessed electronic data from 3,634 patients with invasive breast cancer diagnosed from 1998 to 2007 in a large integrated health system. We collected data on patient and tumor characteristics, HER2 testing status, test results, and trastuzumab treatment. Results: From 1998 to 2000, the percent of patients who underwent HER2 evaluation increased from 12 to 94%; <3% of women with ductal carcinoma in situ, for whom HER2 testing is not recommended, were tested. Trastuzumab use increased 5-fold after 2004, when guidelines expanded to include recommending adjuvant treatment for early-stage breast cancer in addition to metastatic treatment. Ninety-five percent of women receiving trastuzumab had a positive HER2 result. After 2004, 55% of women with invasive breast cancer and overexpression of HER2 received trastuzumab treatment; this ranged from 44% of women with localized breast cancer to 80% of women with distant metastatic disease. Conclusions: These findings illustrate appropriate and effective implementation of a HER2 testing strategy in a managed care setting.
PMCID: PMC3225235  PMID: 21540562
Genetic; Herceptin; Translation; Trastuzumab
8.  Motivations and Perceptions of Early Adopters of Personalized Genomics: Perspectives from Research Participants 
Public Health Genomics  2011;15(1):22-30.
Background/Aims: To predict the potential public health impact of personal genomics, empirical research on public perceptions of these services is needed. In this study, ‘early adopters’ of personal genomics were surveyed to assess their motivations, perceptions and intentions. Methods: Participants were recruited from everyone who registered to attend an enrollment event for the Coriell Personalized Medicine Collaborative, a United States-based (Camden, N.J.) research study of the utility of personalized medicine, between March 31, 2009 and April 1, 2010 (n = 369). Participants completed an Internet-based survey about their motivations, awareness of personalized medicine, perceptions of study risks and benefits, and intentions to share results with health care providers. Results: Respondents were motivated to participate for their own curiosity and to find out their disease risk to improve their health. Fewer than 10% expressed deterministic perspectives about genetic risk, but 32% had misperceptions about the research study or personal genomic testing. Most respondents perceived the study to have health-related benefits. Nearly all (92%) intended to share their results with physicians, primarily to request specific medical recommendations. Conclusion: Early adopters of personal genomics are prospectively enthusiastic about using genomic profiling information to improve their health, in close consultation with their physicians. This suggests that early users (i.e. through direct-to-consumer companies or research) may follow up with the health care system. Further research should address whether intentions to seek care match actual behaviors.
PMCID: PMC3225236  PMID: 21654153
Commercialization; Consumer views; Genetic tests; Direct-to-consumer; Personalized medicine; Public expectations; Survey research
9.  Integrating Genetic Studies of Nicotine Addiction into Public Health Practice: Stakeholder Views on Challenges, Barriers and Opportunities 
Public Health Genomics  2011;15(1):46-55.
Objective: Will emerging genetic research strengthen tobacco control programs? In this empirical study, we interview stakeholders in tobacco control to illuminate debates about the role of genomics in public health. Methods: The authors performed open-ended interviews with 86 stakeholders from 5 areas of tobacco control: basic scientists, clinicians, tobacco prevention specialists, health payers, and pharmaceutical industry employees. Interviews were qualitatively analyzed using standard techniques. Results: The central tension is between the hope that an expanding genomic knowledge base will improve prevention and smoking cessation therapies and the fear that genetic research might siphon resources away from traditional and proven public health programs. While showing strong support for traditional public health approaches to tobacco control, stakeholders recognize weaknesses, specifically the difficulty of countering the powerful voice of the tobacco industry when mounting public campaigns and the problem of individuals who are resistant to treatment and continue smoking. Conclusions: In order for genetic research to be effectively translated into efforts to minimize the harm of smoking-related disease, the views of key stakeholders must be voiced and disagreements reconciled. Effective translation requires honest evaluation of both the strengths and limitations of genetic approaches.
PMCID: PMC3225237  PMID: 21757875
Genetics; Individualized medicine; Nicotine addiction; Public health; Tobacco control
10.  Public Perspectives Regarding Data-Sharing Practices in Genomics Research 
Public Health Genomics  2011;14(6):319-324.
Genomics research data are often widely shared through a variety of mechanisms including publication, meetings and online databases. Re-identification of research participants from sequence data has been shown possible, raising concerns of participants’ privacy.
In 2008–09, we convened 10 focus groups in Durham, N.C. to explore attitudes about how genomic research data were shared amongst the research community, communication of these practices to participants and how different policies might influence participants’ likelihood to consent to a genetic/genomic study. Focus groups were audio-recorded and transcripts were complemented by a short anonymous survey. Of 100 participants, 73% were female and 76% African-American, with a median age of 40–49 years.
Overall, we found that discussants expressed concerns about privacy and confidentially of data shared through online databases. Although discussants recognized the benefits of data-sharing, they believed it was important to inform research participants of a study's data-sharing plans during the informed consent process. Discussants were significantly more likely to participate in a study that planned to deposit data in a restricted access online database compared to an open access database (p < 0.00001).
The combination of the potential loss of privacy with concerns about data access and identity of the research sponsor warrants disclosure about a study's data-sharing plans during the informed consent process.
PMCID: PMC3221256  PMID: 21430368
Data-sharing; Genomics research; Public attitudes
11.  Attitudes toward Genetic Research Review: Results from a Survey of Human Genetics Researchers 
Public Health Genomics  2011;14(6):337-345.
Researchers often relate personal experiences of difficulties and challenges with Institutional Review Board (IRB) review of their human genetic research protocols. However, there have been no studies that document the range and frequency of these concerns among researchers conducting human genetic/genomic studies.
An online anonymous survey was used to collect information from human genetic researchers regarding views about IRB review of genetic protocols. Logistic regression was used to test specific hypotheses. Results from the national online survey of 351 human genomic researchers are summarized in this report.
Issues involving considerable discussion with IRBs included reconsent of subjects (51%), protection of participants’ personal information (39%) and return of results to participants (34%). Over half of the participants had experienced one or more negative consequences of the IRB review process and approximately 25% had experienced one or more positive consequences. Respondents who had served on an IRB were about 80% more likely to report positive consequences of IRB review than their colleagues who had never served on an IRB (p = 0.03). Survey responses were mixed on the need for reconsent before data sharing and risks related to participant reidentification from genomic data.
The results from this study provide important perspectives of researchers regarding genetic research review and show lack of consensus on key research ethics issues in genomic research.
PMCID: PMC3221257  PMID: 21487211
Genomics; Human genetics; Institutional Review Board; Survey
12.  Public Perspectives on Returning Genetics and Genomics Research Results 
Public Health Genomics  2011;14(6):346-355.
The debate about returning research results has revealed different perspectives among researchers, participants and advisory groups with participants generally interested in obtaining their results. Given this preference, policies regarding return of individual research results may affect whether a potential subject chooses to participate in a study. Public attitudes, particularly those of African-Americans, toward this issue have been understudied.
In 2008–2009, we convened 10 focus groups in Durham, N.C. to explore attitudes about returning research results and how different policies might influence their likelihood to participate in genetic/genomic studies. Transcripts were complimented by a short anonymous survey. Of 100 participants, 73% were female and 76% African-American with a median age of 40–49 years.
Although there was general interest in obtaining genetics research results, particularly individual results, discussants recognized many potential complexities. The option to obtain research results (individual or summary) was clearly valued and lack thereof was potentially a deterrent for genetic/genomic research enrollment.
Providing the option to learn research results may help strengthen relationships between investigators and participants and thereby serve as a positive influencing factor for minority communities. Consideration of the broader implications of returning research results is warranted. Engaging diverse publics is essential to gain a balance between the interests and burdens of participants and investigators.
PMCID: PMC3221258  PMID: 21555865
Public attitudes; Focus group; Research results
13.  Ethnic, Racial and Cultural Identity and Perceived Benefits and Barriers Related to Genetic Testing for Breast Cancer among At-Risk Women of African Descent in New York City 
Public Health Genomics  2011;14(6):356-370.
Due to disparities in the use of genetic services, there has been growing interest in examining beliefs and attitudes related to genetic testing for breast and/or ovarian cancer risk among women of African descent. However, to date, few studies have addressed critical cultural variations among this minority group and their influence on such beliefs and attitudes.
We assessed ethnic, racial and cultural identity and examined their relationships with perceived benefits and barriers related to genetic testing for cancer risk in a sample of 160 women of African descent (49% self-identified African American, 39% Black-West Indian/Caribbean, 12% Black-Other) who met genetic risk criteria and were participating in a larger longitudinal study including the opportunity for free genetic counseling and testing in New York City. All participants completed the following previously validated measures: (a) the multi-group ethnic identity measure (including ethnic search and affirmation subscales) and other-group orientation for ethnic identity, (b) centrality to assess racial identity, and (c) Africentrism to measure cultural identity. Perceived benefits and barriers related to genetic testing included: (1) pros/advantages (including family-related pros), (2) cons/disadvantages (including family-related cons, stigma and confidentiality concerns), and (3) concerns about abuses of genetic testing.
In multivariate analyses, several ethnic identity elements showed significant, largely positive relationships to perceived benefits about genetic testing for breast and/or ovarian cancer risk, the exception being ethnic search, which was positively associated with cons/disadvantages, in general, and family-related cons/disadvantages. Racial identity (centrality) showed a significant association with confidentiality concerns. Cultural identity (Africentrism) was not related to perceived benefits and/or barriers.
Ethnic and racial identity may influence perceived benefits and barriers related to genetic testing for breast and/or ovarian cancer risk among at-risk women of African descent. Genetic counseling services may want to take into account these factors in the creation of culturally-appropriate services which best meet the needs of this heterogenous population.
PMCID: PMC3221259  PMID: 21540561
Breast cancer; Cultural identity; Ethnic identity; Genetic testing; Racial identity
14.  Educating Underserved Latino Communities about Family Health History Using Lay Health Advisors 
Public Health Genomics  2009;14(4-5):211-221.
Family health history (FHH) is a tool used to inform individuals about inherited disease risk. Due to their disproportionate morbidity and mortality from some common chronic diseases, U.S. Latinos are an important audience for FHH information. This study examined the effects of a culturally-tailored intervention led by lay health advisors (LHAs) in delivering information about FHH on participants’ intentions, self-efficacy, and conceptual knowledge.
474 Spanish-speaking Latino participants were enrolled in the study. Individuals in the intervention group participated in a single group educational session using discussion and interactive activities to build skills for discussing FHH with one's family members and doctor, while individuals in the comparison group had a brochure read aloud to them. Pre- and post-test questionnaires were verbally administered.
Primary dependent variables were intentions and self-efficacy to discuss FHH with family members and doctors; these increased in both groups. Multivariate analyses demonstrated that the intervention led to a significantly greater increase in self-efficacy to discuss FHH with family members (p = 0.03). LHA participants were also more than twice as likely (OR = 2.6, 95% CI = 1.3–5.0) to correctly understand the purpose of a FHH and found FHH information more useful (p < 0.0001).
A communication intervention delivered by LHAs shows promise as an effective means of educating underserved Spanish-speaking Latinos about the importance of FHH for disease prevention. Such community-based approaches can help to close knowledge and skills gaps about FHH and increase confidence in using this information to improve the health of those most at risk.
PMCID: PMC3136386  PMID: 20051669
Family health history; Health disparities; Latinos; Lay health advisors
15.  Preferences for Hereditary Breast and Ovarian Cancer Information among Mexican, Cuban and Puerto Rican Women at Risk 
Public Health Genomics  2010;14(4-5):248-258.
Little is known about the preferences of at-risk Hispanic women to gain information on hereditary breast and ovarian cancer (HBOC). Aims: This study sought to qualitatively explore preferences for HBOC information among at-risk Mexican, Puerto Rican and Cuban women and to pilot a mock brochure aimed at Hispanic women.
Hispanic women aged 18–65 years with a personal or family history of breast or ovarian cancer participated in a semistructured interview. Data were analyzed using a combination of open-coding and content analysis.
Fifty-three women participated in the study. For the majority of content areas, there were no major differences between the subethnicities. All women reported discussing cancer with a doctor after a family member had been diagnosed and discussing cancer within their families; however, the content of the discussion varied. Cuban and Puerto Rican women reported using the Internet routinely for health care information while Mexican women said they did not have access to computers and did not use them. All women liked the content and photos in the brochure but Mexican women thought the reading level was too high. Preferences for the spokesperson focused on the need for Spanish-speaking health care providers.
While the data show some similarities, such as patterns of cancer discussion and appreciation of the mock brochure, there were differences between the groups on information preferences. In designing HBOC education information for Hispanic audiences, it is important to consider varied channels for dissemination and preferences for specific types of information across subethnicities.
PMCID: PMC3136388  PMID: 20150724
Hereditary breast and ovarian cancer, genetics; Hispanic women; Qualitative research
16.  Age Differences in Genetic Knowledge, Health Literacy and Causal Beliefs for Health Conditions 
Public Health Genomics  2010;14(4-5):307-316.
This study examined the levels of genetic knowledge, health literacy and beliefs about causation of health conditions among individuals in different age groups.
Individuals (n = 971) recruited through 8 community health centers in Suffolk County, New York, completed a one-time survey.
Levels of genetic knowledge were lower among individuals in older age groups (26–35, p = 0.011; 36–49, p = 0.002; 50 years and older, p<0.001) compared to those in the youngest age group (18–25). Participants in the oldest age group also had lower health literacy than those in the youngest group (p <0.001). Those in the oldest group were more likely to endorse genetic (OR = 1.87, p = 0.008) and less likely to endorse behavioral factors like diet, exercise and smoking (OR = 0.55, p = 0.010) as causes of a person's body weight than those in the youngest group. Higher levels of genetic knowledge were associated with higher likelihood of behavioral attribution for body weight (OR = 1.25, p <0.001).
Providing additional information that compensates for their lower genetic knowledge may help individuals in older age groups benefit from rapidly emerging genetic health information more fully. Increasing the levels of genetic knowledge about common complex diseases may help motivate individuals to engage in health promoting behaviors to maintain healthy weight through increases in behavioral causal attributions.
PMCID: PMC3136390  PMID: 20829577
Causal beliefs; Community-based sample; Genetic communication; Genetic knowledge; Health literacy
17.  Parental Attitudes toward Ethical and Social Issues Surrounding the Expansion of Newborn Screening Using New Technologies 
Public Health Genomics  2010;14(4-5):298-306.
This study assessed parent knowledge of newborn screening (NBS) and parent attitudes toward NBS for untreatable conditions, NBS for late-onset disorders and informed consent in NBS.
Seventeen qualitative focus groups were held in Alaska, California, Hawaii, and Washington with mothers of children 10 years old or younger.
Most participants did not recall receiving information about NBS, and all wanted this information prenatally. In addition, most felt that the current system of ‘informed dissent’ was adequate, provided they were told about NBS prior to delivery. All women supported NBS for conditions that occur in infancy without a proven treatment. However, they disagreed about NBS for disorders that manifest in late childhood or adulthood.
The results show a general consensus among the focus group participants about issues that cause dissent among public health and health care professionals. Parent attitudes differ from those of many professional communities with regard to timing of NBS education, informed consent, NBS for disorders that lack an effective treatment, and predictive testing of children for late-onset disorders. The results highlight the need to further research parent opinions about expanded NBS using new technologies and to include parents in the development of NBS policies.
PMCID: PMC3214890  PMID: 20689248
Cultural differences; Ethical issues; Focus group; Informed consent; Metabolic disorders; Newborn screening; Qualitative analysis; Social issues
18.  Patient Perspectives on Group Benefits and Harms in Genetic Research 
Public Health Genomics  2010;14(3):135-142.
It is unclear how the possible effects of genetic research on socially identifiable groups may impact patient willingness to donate biological samples for future genetic studies.
Telephone interviews with patients at 5 academic medical centers in the U.S. examined how patients’ beliefs about benefits and harms to ones racial or ethnic group shape decisions to participate in genetic research.
Of the 1,113 patients who responded to questions about group harms and benefits, 61% of respondents indicated that potential benefits to their own racial or ethnic group would be a big or moderate part of their decision to donate a sample for genetic research. 63% of black respondents and 57% of white respondents indicated that they were ‘very’ or ‘moderately concerned’ about genetic research findings being used to discriminate against people by race or ethnicity. 64% of black and 34% of white respondents reported that their willingness to donate a blood sample would be substantially reduced due to these concerns.
Our findings suggest that a key factor in many patients’ decisions to donate samples for genetic research is how those studies may impact identifiable racial and ethnic groups. Given the importance of these considerations to many patients, our study highlights a need to address patients’ concerns about potential group benefits and harms in the design of future research studies and DNA biobanks.
PMCID: PMC3104869  PMID: 20938159
Biorepositories; Community consultation; Ethics; Genetic research; Group harm; Human subjects; Informed consent; Stored tissue
19.  Interest in Genetic Testing for Modest Changes in Breast Cancer Risk: Implications for SNP Testing 
Public Health Genomics  2011;14(3):178-189.
Advances in genomics may eventually lead to ‘personalized genetic medicine,’ yet the clinical utility of predictive testing for modest changes in risk is unclear. We explored interest in genetic testing for genes related to modest changes in breast cancer risk in women at moderate to high risk for breast cancer.
Women (n = 105) with a negative breast biopsy and ≥1 relative with breast or ovarian cancer completed telephone surveys. We measured demographic and psychosocial variables and, following presentation of hypothetical scenarios of genetic tests for lower-penetrance breast cancer gene mutations, assessed interest in willingness to pay for and comprehension of test results. We used logistic regression models with generalized estimating equations to evaluate combinations of risk level, cost and behavioral modifiers.
Many women (77%) reported ‘definite’ interest in genetic testing, with greater interest in tests that conveyed more risk and cost less. Behavioral modifiers of risk (taking a vitamin; diet/exercise), having a regular physician, greater perceived benefits of genetic testing, and greater cancer worry also influenced interest. Most participants (63%) did not understand relative vs. absolute risk. Women with less understanding reported more cancer worry and greater willingness to pay for testing.
Interest in genetic testing for mutations related to modest changes in risk was high, modified by both test and psychosocial factors. Findings highlight the need for education about benefits and risks of testing for mutations that convey modest changes in risk, particularly given the current lack of clinical validity/utility and availability of direct-to-consumer genetic testing.
PMCID: PMC3104870  PMID: 21464556
Breast cancer risk; Genetic testing; Interest; Modest risk changes; Public health genomics; Scenario-based research; SNP testing
20.  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.
PMCID: PMC3214932  PMID: 20407215
Genetic testing; Pharmacogenomics; Quality-adjusted life years; Risk-benefit; Stakeholder; Warfarin
21.  Participation in Genetic Testing Research Varies by Social Group 
Public Health Genomics  2010;14(2):85-93.
Advances in technology have made individual access to personal genetic information foreseeable in the near future. Policy makers and the media forecast that the ready availability of personal genetic profiles would benefit both the individual and the health care system by improving outcomes and decreasing cost. However, there is a significant gap between having access to genetic data and either wanting or understanding the information it provides. Objective: Our primary aim was to evaluate, using a population-based sample of healthy adults, whether gender, race and education status influences interest and participation in a multiplex genetic susceptibility test.
Healthy, insured individuals, 25–40 years of age, were approached via a large, integrated health system in which primary and specialty care is available. Study participants were offered personalized genetic risk information on 8 common chronic health conditions. Social groups historically known not to participate in genetic research (men, African Americans and those from lower education neighborhoods) were oversampled. We describe the recruitment outcomes and testing decisions of these social groups.
We found that even among those with access to health care, African Americans were less likely to participate in the multiplex genetic susceptibility test, while those from higher education neighborhoods were more likely to participate.
Our results suggest that large social groups will likely be underrepresented in research in personalized genomics even when robust population-based recruitment strategies are employed.
PMCID: PMC3214933  PMID: 20299772
Multiplex genetic susceptibility test; Race; Gender; Education
22.  Public Understanding of Risks from Gene-Environment Interaction in Common Diseases: Implications for Public Communications 
Public Health Genomics  2010;14(2):115-124.
Public understanding of the relationship between health behaviors and genes is likely to affect the motivational impact of learning information about one's own genes. Extant research has featured difficulty measuring public understandings of this relationship. This essay explores public understanding of the relationship between genes and behavior, especially with regard to the mathematical relationships to risk concept. It contributes a psychometrically valid scale for measuring beliefs about gene-behavior relationships.
Three population representative surveys (n = 633, 658, 1,218) were conducted using the Knowledge Networks panel platform.
Interpretations of risk vary depending on whether genes and behavior are conceived of as health-damaging (loss frame) or health-protecting (gain frame). In the loss frame, the majority of the population adopts an additive model of the relationship with approximately one-third adopting an amplificative model. In the gain frame, beliefs are divided roughly equally among additive, amplificative and sub-additive models. Scores on the nonmathematically based scale indicate higher belief in the existence of interaction than scores on the more concrete question format.
The existence of different interpretations of gene-behavior relationships based on gain/loss frame and abstract/concrete modes indicates the need to select frame and mode carefully in both teaching and research. Research is needed to identify optimal configurations for teaching and presenting this relatively complex material.
PMCID: PMC3214934  PMID: 20714109
Gene-environment interaction; Genetic literacy; Genetics education; Public understanding of genetics; Public understanding of science; Risk perception; Synergistic risk
23.  Translational Research in Cancer Genetics: The Road Less Traveled 
Public Health Genomics  2009;14(1):1-8.
Gene discoveries in cancer have the potential for clinical and public health applications. To take advantage of such discoveries, a translational research agenda is needed to take discoveries from the bench to population health impact. To assess the current status of translational research in cancer genetics, we analyzed the extramural grant portfolio of the National Cancer Institute (NCI) from Fiscal Year 2007, as well as the cancer genetic research articles published in 2007. We classified both funded grants and publications as follows: T0 as discovery research; T1 as research to develop a candidate health application (e.g., test or therapy); T2 as research that evaluates a candidate application and develops evidence-based recommendations; T3 as research that assesses how to integrate an evidence-based recommendation into cancer care and prevention; and T4 as research that assesses health outcomes and population impact. We found that 1.8% of the grant portfolio and 0.6% of the published literature was T2 research or beyond. In addition to discovery research in cancer genetics, a translational research infrastructure is urgently needed to methodically evaluate and translate gene discoveries for cancer care and prevention.
PMCID: PMC3025883  PMID: 20051673
24.  Risk Perceptions and Family History of Lung Cancer: Differences by Smoking Status 
Public Health Genomics  2010;14(1):26-34.
Individuals with a family history of lung cancer have a two- to threefold increased risk for developing this disease. Family history information may be useful in lung cancer prevention and control approaches, but research is needed regarding how individuals interpret this information. This study examined associations between lung cancer family history and individuals’ risk perceptions, based on smoking status.
Data were analyzed from 5,105 U.S. adult respondents to the 2005 Health Information National Trends Survey, which was conducted with a nationally representative sample.
In multivariate models, family history of lung cancer was positively associated with absolute and relative risk perceptions among all respondents (β = 0.60, 95% CI = 0.33–0.87 and β = 0.17, 95% CI = 0.04–0.31, respectively) and among never smokers (β = 0.40, 95% CI = 0.14–0.67 and β = 0.14, 95% CI = 0.01–0.27, respectively). However, these associations were not significant for current and former smokers.
While perceived risk was associated with family history of lung cancer among never smokers, this was not true for other smoking status subgroups. Therefore, former and current smokers might not respond as intended to cancer prevention or cessation messages tailored based on family history. The results suggest directions for future research into how to best integrate family history information into prevention and control efforts.
PMCID: PMC3025884  PMID: 20375490
Family history; Lung cancer; Risk perceptions; Smoking
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.
PMCID: PMC3025885  PMID: 21071927
Consumer safety; DNA test kit; Personal genome testing, direct-to-consumer

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