Research assessing attitudes toward consent processes for high-throughput genomic-wide technologies and widespread sharing of data is limited. In order to develop a better understanding of stakeholder views toward these issues, this cross-sectional study assessed public and biorepository participant attitudes toward research participation and sharing of genetic research data. Forty-nine individuals participated in 6 focus groups; 28 in 3 public focus groups and 21 in 3 NUgene biorepository participant focus groups. In the public focus groups, 75% of participants were women, 75% had some college education or more, 46% were African-American and 29% were Hispanic. In the NUgene focus groups, 67% of participants were women, 95% had some college education or more, and the majority (76%) of participants was Caucasian. Five major themes were identified in the focus group data: (a) a wide spectrum of understanding of genetic research; (b) pros and cons of participation in genetic research; (c) influence of credibility and trust of the research institution; (d) concerns about sharing genetic research data and need for transparency in the Policy for Sharing of Data in National Institutes of Health-Supported or Conducted Genome-Wide Association Studies; (e) a need for more information and education about genetic research. In order to increase public understanding and address potential concerns about genetic research, future efforts should be aimed at involving the public in genetic research policy development and in identifying or developing appropriate educational strategies to meet the public’s needs.

The Multidimensional Impact of Cancer Risk Assessment (MICRA) is a new tool to measure the specific impact of result disclosure after genetic testing. The authors compared its performance with that of questionnaires measuring general and cancer-specific distress. Participants (158 women) responded 1 month after they received genetic test results. The women were divided into 4 standard clinical test result groups: BRCA1/2 positive, BRCA1/2 negative, panel negative, and true negative. Factor analysis supported the formation of 3 subscales: Distress (6 items, alpha = .86), Uncertainty (9 items, alpha = .77), and Positive Experiences (4 items, alpha = .75). All 3 MICRA subscales differentiated participants who were BRCA1/2 positive from the other 3 groups. MICRA thus helps identify subgroups of vulnerable genetic testing participants.

To be respectful of the public, biobank guiding principles and operations should be responsive to and inclusive of the values and beliefs of their participants. In an effort to increase knowledge and inform institutional policies, we conducted a deliberative engagement of individuals from two healthcare facilities in South Side Chicago that serve different socioeconomic communities to consider biobank policies regarding return of research results. We recruited primary caregivers of children receiving care at either a Federally Qualified Health Center or a university-based practice to attend two full-day deliberative engagement sessions, which included four educational presentations followed by focus group discussions. Surveys were administered to assess attitudes before and after the engagement, and an evaluation was conducted to assess the deliberative engagement process. All 45 participants self-identified as African American. Focus group themes included: 1) overall interest in biobank participation, broad consent, and recontact; 2) root causes of distrust and potential biobank strategies to facilitate trust; 3) perceived positive and negative aspects of receiving research results; and 4) strong interest in receiving and managing their children’s research results. Survey data indicated the same degree of interest in receiving results about themselves as about their children. Pre- and post-session findings showed mainly non-significant attitudinal changes in level of interest in biobank participation and return of research results, although there was a decrease in level of concern regarding identification from research data. Our findings reveal shared community insights important in facilitating relationships and policy discussions between biobank researchers and research participants.

Along with rapid advances in human genomics, policies governing genomic data and clinical technologies have proliferated. Stakeholder engagement is widely lauded as an important methodology for improving clinical, scientific, and public health policy decision making. The purpose of this paper is to examine how stakeholder engagement is used to develop policies in genomics research and public health areas, as well as to identify future priorities for conducting evidence-based stakeholder engagements. We focus on exemplars in biobanking and newborn screening to illustrate a variety of current stakeholder engagement in policy-making efforts. Each setting provides an important context for examining the methods of obtaining and integrating informed stakeholder voices into the policy-making process. While many organizations have an interest in engaging stakeholders with regard to genomic policy issues, there is broad divergence with respect to the stakeholders involved, the purpose of engagements, when stakeholders are engaged during policy development, methods of engagement, and the outcomes reported. Stakeholder engagement in genomics policy development is still at a nascent stage. Several challenges of using stakeholder engagement as a tool for genomics policy development remain, and little evidence regarding how to best incorporate stakeholder feedback into policy-making processes is currently available.

Within the population studied, the referral screening tool seems to be a reliable and valid tool to identify individuals who should be referred for consideration of BRCA1/2 testing. Further examination of the referral screening tool in primary care settings is warranted to assess its impact on the efficiency with which health care providers triage patients to cancer genetics services.

Aim: To explore primary care physicians' views of the utility and delivery of direct access to pharmacogenomics (PGx) testing in a community health system. Methods: This descriptive study assessed the perspectives of 15 healthcare providers utilizing qualitative individual interviews. Results: Three main themes emerged: perceived value and utility of PGx testing; challenges to implementation in practice; and provider as well as patient needs. Conclusion: While providers in this study viewed benefits of PGx testing as avoiding side effects, titrating doses more quickly, improving shared decision-making and providing psychological reassurance, challenges will need to be addressed such as privacy concerns, cost, insurance coverage and understanding the complexity of PGx test results.

Participants reported value in both methods of PGx testing. Patient experiences, understanding and result utilization will play an important role in informing future development and implementation of PGx programs.

Advances in genomic technologies and the promise of "personalised medicine" have spurred the interest of researchers, healthcare systems, and the general public. However, the success of population-based genetic studies depends on the willingness of large numbers of individuals and diverse communities to grant researchers access to detailed medical and genetic information. Certain features of this kind of researchsuch as the establishment of biobanks and prospective data collection from participants' electronic medical records -make the potential risks and benefits to participants difficult to specify in advance. Therefore, community input into biobank processes is essential. In this report, we describe community engagement efforts undertaken by six United States biobanks, various outcomes from these engagements, and lessons learned. Our aim is to provide useful insights and potential strategies for the various disciplines that work with communities involved in biobank-based genomic research.