DNA data sharing: research participants' perspectives

PurposeCurrent genomic research policy calls for public data release with specific consent for data sharing. Because most clinical investigators are not responsible for and do not anticipate data broadcast few include information about data sharing in their informed consent process. Model language is therefore urgently needed and should be responsive to research participants' attitudes and judgments. The purpose of this study was to describe research participants' attitudes and judgments about data release and their preferences for varying levels of control over decision-making.MethodsFocus group sessions with patients and controls from a genetic study of epilepsy.ResultsDespite wide variation in judgments, there was general interest in receiving information and making decisions about data sharing. Participants preferred multiple data sharing options, but were more likely to consent to public data release when given fewer options. For existing samples most participants felt that genomic information should not be publicly released without explicit consent from research participants.ConclusionsSpecific information about data sharing ought to be included in the consent process for all genetic research. These participants desire multiple data release options, but the effect, if any, on consent to public release deserves further investigation.     

To share or not to share: A randomized trial of consent for data sharing in genome research

PurposeDespite growing concerns toward maintaining participants' privacy, individual investigators collecting tissue and other biological specimens for genomic analysis are encouraged to obtain informed consent for broad data sharing. Our purpose was to assess the effect on research enrollment and data sharing decisions of three different consent types (traditional, binary, or tiered) with varying levels of control and choices regarding data sharing.MethodsA single-blinded, randomized controlled trial was conducted with 323 eligible adult participants being recruited into one of six genome studies at Baylor College of Medicine in Houston, Texas, between January 2008 and August 2009. Participants were randomly assigned to one of three experimental consent documents (traditional, n = 110; binary, n = 103; and tiered, n = 110). Debriefing in follow-up visits provided participants a detailed review of all consent types and the chance to change data sharing choices or decline genome study participation.ResultsBefore debriefing, 83.9% of participants chose public data release. After debriefing, 53.1% chose public data release, 33.1% chose restricted (controlled access database) release, and 13.7% opted out of data sharing. Only one participant declined genome study participation due to data sharing concerns.ConclusionOur findings indicate that most participants are willing to publicly release their genomic data; however, a significant portion prefers restricted release. These results suggest discordance between existing data sharing policies and participants' judgments and desires.     

Informed choice and attitudes regarding a genomic test to predict risk of colorectal cancer in general practice

ObjectiveA genomic test to predict personal risk of colorectal cancer (CRC) that targets screening and could be feasibly implemented in primary care. We explored informed decision-making and attitudes towards genomic testing in this setting.MethodsA CRC genomic test was offered to 150 general practice patients with brief discussion of its implications. We measured informed choice about the test, consisting knowledge, attitudes and test uptake. Sixteen purposively-sampled participants were interviewed.ResultsOf 150, 142 (95%) completed the informed choice measure and of 27 invited, 16 (59%) completed an interview. 73% made an informed choice about the test. Interviews revealed that participants with inadequate knowledge on the informed choice scale still understood the gist of the test. While positive attitudes were most prevalent, some had concerns, and many were indifferent to the test. Positive attitudes included: that risk information could facilitate risk reduction; negative attitudes included: that risk results could cause worry and be used for insurance discrimination; indifferent attitudes included: that the test seemed benign and it was easy to do.ConclusionsOur study adds to the evidence that genomic tests for CRC risk do not pose significant concern to patients in community settings.Practice implicationsAs genomic tests become more prevalent, this study’s findings can be used to facilitate informed decision-making and ensure equitable access.     

How patients deal with an ambiguous medical test: Decision-making after genetic testing

ObjectiveWe know little about how patients make decisions when they receive a variant of uncertain significance result (VUS) from genetic testing. The purpose of this study was to elucidate a model of patient-informed decision-making after receiving a VUS result.MethodsUsing an adapted Mental Models Approach, we conducted semi-structured interviews with women who received a VUS result from genetic testing for hereditary breast cancer (N = 20) to explore factors they believed were relevant to their decision-making. Two coders used a coding scheme informed by experts in hereditary breast cancer to conduct analysis. Inter-coder reliability was α = .86.ResultsThree overarching decision themes emerged from the interviews: managing ambiguity, medical risk management, and sharing results with others. While participants noted some difficulty understanding their result, genetic counselors’ interpretations, psychosocial factors (e.g., risk perceptions), and competing extrinsic demands influenced their decisions.ConclusionComplex influences affect patient decision-making after a VUS result from genetic testing and may encourage health protective behavior.Practice ImplicationsEven patients who understand their test result could use support managing the ambiguity of their test result and sharing it with others.     

Risk and uncertainty: Shifting decision making for aneuploidy screening to the first trimester of pregnancy

PurposeThe clinical introduction of first trimester aneuploidy screening uniquely challenges the informed consent process for both patients and providers. This study investigated key aspects of the decision-making process for this new form of prenatal genetic screening.MethodsQualitative data were collected by nine focus groups that comprised women of different reproductive histories (N = 46 participants). Discussions explored themes regarding patient decision making for first trimester aneuploidy screening. Sessions were audio recorded, transcribed, coded, and analyzed to identify themes.ResultsMultiple levels of uncertainty characterize the decision-making process for first trimester aneuploidy screening. Baseline levels of uncertainty existed for participants in the context of an early pregnancy and the debate about the benefit of fetal genetic testing in general. Additional sources of uncertainty during the decision-making process were generated from weighing the advantages and disadvantages of initiating screening in the first trimester as opposed to waiting until the second. Questions of the quality and quantity of information and the perceived benefit of earlier access to fetal information were leading themes. Barriers to access prenatal care in early pregnancy presented participants with additional concerns about the ability to make informed decisions about prenatal genetic testing.ConclusionsThe option of the first trimester aneuploidy screening test in early pregnancy generates decision-making uncertainty that can interfere with the informed consent process. Mechanisms must be developed to facilitate informed decision making for this new form of prenatal genetic screening.     

Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach

PurposePatients undergoing clinical exome sequencing (ES) are routinely offered the option to receive secondary findings (SF). However, little is known about the views of individuals from underrepresented minority pediatric or prenatal populations regarding SF.MethodsWe explored the preferences for receiving hypothetical categories of SF (H-SF) and reasons for accepting or declining actual SF through surveying (n = 149) and/or interviewing (n = 47) 190 families undergoing pediatric or prenatal ES.ResultsUnderrepresented minorities made up 75% of the probands. In total, 150 families (79%) accepted SF as part of their child/fetus’s ES. Most families (63%) wanted all categories of H-SF. Those who declined SF as part of ES were less likely to want H-SF across all categories. Interview findings indicate that some families did not recall their SF decision. Preparing for the future was a major motivator for accepting SF, and concerns about privacy, discrimination, and psychological effect drove decliners.ConclusionA notable subset of families (37%) did not want at least 1 category of H-SF, suggesting more hesitancy about receiving all available results than previously reported. The lack of recollection of SF decisions suggests a need for alternative communication approaches. Results highlight the importance of the inclusion of diverse populations in genomic research.     

GUÍA: a digital platform to facilitate result disclosure in genetic counseling

PurposeUse of genomic sequencing is increasing at a pace that requires technological solutions to effectively meet the needs of a growing patient population. We developed GUÍA, a web-based application, to enhance the delivery of genomic results and related clinical information to patients and families.MethodsGUÍA development occurred in five overlapping phases: formative research, content development, stakeholder/community member input, user interface design, and web application development. Development was informed by formative qualitative research involving parents (N = 22) whose children underwent genomic testing. Participants enrolled in the NYCKidSeq pilot study (N = 18) completed structured feedback interviews post–result disclosure using GUÍA. Genetic specialists, researchers, patients, and community stakeholders provided their perspectives on GUÍA’s design to ensure technical, cultural, and literacy appropriateness.ResultsNYCKidSeq participants responded positively to the use of GUÍA to deliver their children’s results. All participants (N = 10) with previous experience with genetic testing felt GUÍA improved result disclosure, and 17 (94%) participants said the content was clear.ConclusionGUÍA communicates complex genomic information in an understandable and personalized manner. Initial piloting demonstrated GUÍA’s utility for families enrolled in the NYCKidSeq pilot study. Findings from the NYCKidSeq clinical trial will provide insight into GUÍA’s effectiveness in communicating results among diverse, multilingual populations.     

Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children’s Hospital Gene Partnership Informed Cohort Oversight Board

PurposeApproaches to return individual results to participants in genomic research variably focus on actionability, duty to share, or participants’ preferences. Our group at Boston Children’s Hospital has prioritized participants’ preferences by implementing the Gene Partnership, a genomic research repository, based on the “Informed Cohort” model that offers return of results in accordance with participant preferences. Recognizing that ethical oversight is essential, the Gene Partnership Informed Cohort Oversight Board was convened in 2009.MethodsOver 3 years, the Informed Cohort Oversight Board developed guidelines for the return of individual genomic research results.ResultsThe Informed Cohort Oversight Board defined its guiding principles as follows: to respect the developing autonomy of pediatric participants and parental decision-making authority by returning results consistent with participants’ preferences and to protect participants from harm. Potential harms and strategies to eliminate harm were identified. Guidelines were developed for participant preferences that consider the child’s development and family dynamics. The Informed Cohort Oversight Board agreed that to prevent harm, including harms related to interfering with a child’s future autonomy, there will be results that should not be returned regardless of participant preferences.ConclusionThe Informed Cohort Oversight Board developed guidelines for the return of results that respect the preferences of parents, children, and adult participants while seeking to protect against harm.Genet Med16 7, 547–552.     

Caregiver opinions about fragile X population screening

PurposeWe sought to determine caregiver perceptions about population screening for fragile X and to examine factors potentially associated with support for screening.MethodsWe asked 1,099 caregivers of a child with fragile X syndrome or a fragile X carrier to rate whether free, voluntary screening should be offered preconception, prenatally, neonatally, or when problems occur. Caregivers chose a preferred time for screening, reported whether screening would affect parent–child bonding, indicated preferences for carrier detection, and gave reasons for their choices.ResultsCaregivers endorsed all forms of screening, but prenatal screening was less strongly endorsed than preconception or postnatal screening. Most (79%) preferred preconception carrier testing, allowing more options when making reproductive decisions. Most thought that screening should also disclose carrier status and believed a positive screen would not negatively affect parent–child bonding. Maternal education, caregiver depression, family impact, and severity of disability were not associated with screening opinions, but parents who only had carrier children were less likely to endorse prenatal screening.ConclusionCaregivers of children with fragile X widely endorse screening. However, because different parents will make different choices, screening may need to be offered at multiple times with careful consideration of consent and informed decision-making.Genet Med 2012:14(1):115–121.     

Development of a consent resource for genomic data sharing in the clinical setting

PurposeData sharing between clinicians, laboratories, and patients is essential for improvements in genomic medicine, but obtaining consent for individual-level data sharing is often hindered by a lack of time and resources. To address this issue, the Clinical Genome Resource (ClinGen) developed tools to facilitate consent, including a one-page consent form and online supplemental video with information on key topics, such as risks and benefits of data sharing.MethodsTo determine whether the consent form and video accurately conveyed key data sharing concepts, we surveyed 5,162 members of the general public. We measured comprehension at baseline, after reading the form and watching the video. Additionally, we assessed participants’ attitudes toward genomic data sharing.ResultsParticipants’ performance on comprehension questions significantly improved over baseline after reading the form and continued to improve after watching the video.ConclusionResults suggest reading the form alone provided participants with important knowledge regarding broad data sharing, and watching the video allowed for broader comprehension. These materials are now available at http://www.clinicalgenome.org/share. These resources will provide patients a straightforward way to share their genetic and health information, and improve the scientific community’s access to data generated through routine healthcare.     

Informed decision-making based on a leaflet in the context of prostate cancer screening

ObjectiveWe aimed to assess to what extent men make informed choices in the context of prostate cancer screening and how written material contributes to that process.MethodsWe developed a leaflet describing prostate cancer screening, and a questionnaire consisting of knowledge, attitude, and intended screening uptake components to assess informed decision-making. The leaflet and questionnaire were pilot-tested among men of the target population, adapted accordingly, and sent to 761 members of an online research panel. We operationalized whether the leaflet was read as spending one minute on the leaflet page and by a self-reported answer of respondents.ResultsThe response rate was 66% (501/761). The group who read the leaflet (n = 342) correctly answered a knowledge item significantly more often (10.9 versus 8.8; p < 0.001) than those who did not read the leaflet (n = 159), and made more informed choices (73% versus 56%; p = 0.001). There were no significant differences in attitude and intended screening uptake between both groups.ConclusionHaving read the leaflet could be one of the factors associated with increased levels of knowledge and informed decision-making.Practical implicationsThe results of this study showed that increasing knowledge and supporting informed decision-making with written material are feasible in prostate cancer screening.     

Prenatal counseling in extreme prematurity - Insight into preferences from experienced parents

ObjectiveIn-depth analysis of parental preferences in prenatal counseling in extreme prematurity.MethodsA nationwide qualitative interview study among experienced parents of extremely premature babies born at 24^+0/7 – 24^+6/7 weeks of gestation. Semi-structured interviews were held until saturation, transcribed and qualitatively analyzed to search for parental counseling preferences.ResultsThirteen parents were included, most parents decided on active care. Organisation: Parents wanted counseling as soon as possible, and for various reasons they wanted more than one conversation. Supportive material to help visualize complex information was suggested to be helpful, preferably with adjustable levels of detail. An empathetic, honest style with commitment of the counselor was regarded important. Content: Understandable statistics should be used for those who want it. Parents needed different information with respect to the decision-making as opposed to being prepared for future situations. Decision-making: The preferred share of parents’ and doctors’ input in decision-making varied among parents and among situations. Parents expressed that their roles were to take responsibility for and protect their infant.ConclusionsVarious parental preferences for prenatal counseling were found.Practice implicationsCommon parental preferences for the organisation, content and decision-making elements can provide a starting point for personalized prenatal counseling.     

Patient activation and the use of information to support informed health decisions

ObjectivesPatients and consumers make many choices that affect their health and their health care. Some of these decisions are informed by evidence, but many are not. A growing body of research indicates that those who are more activated or engaged in their health are more likely to seek out and use information to inform their health decisions. In this paper we review the evidence about patient activation and information seeking, health behaviors, and health outcomes. We also review what is known about how to increase patient activation, and how best to support patients who are at different levels of activation to use information to support their choices.DiscussionStrategies can be tailored to support and information for patients at different levels of activation. These strategies might be implemented in different clinical settings and situations, tailored and targeted approaches for care transitions, health coaching, and in the use of shared-decision-making.ConclusionsEfforts to support informed consumer choices have largely been a ‘one size fits all’ approach. Understanding consumers, and trying to meet them where they are, is likely to be the focus of the ‘next generation’ of interventions to support informed consumer choices.     

Can a decision aid enable informed decisions in neonatal nursery recruitment for a fragile X newborn screening study?

PurposeTo determine whether a brochure based on principles of informed decision making improved attention to study materials or altered decisions made by parents invited to participate in a fragile X syndrome newborn screening study.MethodsA total of 1,323 families were invited to participate in a newborn screening study to identify infants with fragile X syndrome as well as premutation carrier infants. Of these families, 716 received the original project brochure and 607 were given a new decision aid brochure.ResultsFamilies were more likely to look at the new decision aid and mothers were more likely to read it completely, but the proportion of mothers who read the entire decision aid was only 14%. Families were more likely to rate the decision aid as very helpful. Consistent with informed decision making theory and research, participants receiving the decision aid brochure were less likely to agree to participate.ConclusionThe decision aid increased attention to and perceived helpfulness of educational information about the study, but most families did not read it completely. The study suggests that even well-designed study materials are not fully reviewed in the context of in-hospital postpartum study recruitment and may need to be accompanied by a research recruiter to obtain informed consent.Genet Med 2013:15(4):299–306     

Will the introduction of non-invasive prenatal diagnostic testing erode informed choices? An experimental study of health care professionals

Objective

Informed choice is a fundamental concept within prenatal care. The present study assessed the extent to which the introduction of non-invasive prenatal diagnosis (NIPD) of Down's syndrome may undermine the process of making informed choices to undergo prenatal testing or screening for Down's syndrome by altering the quality and quantity of pre-test counselling.

Methods

231 obstetricians and midwives were randomly allocated one of three vignettes, each describing a different type of test: (a) invasive prenatal diagnosis (IPD), (b) non-invasive prenatal diagnosis (NIPD) or (c) Down's syndrome screening (DSS). Participants were then asked to complete a questionnaire assessing (1) the information considered important to communicate to women, (2) whether test offer and uptake should take place on different days, and (3) whether signed consent forms should be obtained prior to testing.

Results

Across the three test types, five out of the seven presented topics were considered equally important to communicate, including the information that testing is the woman's choice. Compared with participants receiving the IPD vignette, those receiving the NIPD and DSS vignettes were less likely to report that counselling and testing should occur on different days (IPD 94.7% versus 74.1% and 73.9% for NIPD and DSS respectively, p = .001) and that written consent was a necessity (IPD 96.1% versus 68.3% and 75.4% for NIPD and DSS respectively, p < .001).

Conclusion

This study provides the first empirical evidence to demonstrate that practitioners may view the consent process for NIPD differently to IPD. There is potential for the introduction of NIPD to undermine women making informed choices in the context of prenatal diagnostic testing for conditions like DS.

Practice implications

Given the importance of informed choice in reproductive decision-making, implementation of any programme based on NIPD should be designed to facilitate this.