scholarly journals Participant-Partners in Genetic Research: An Exome Study with Families of Children with Unexplained Medical Conditions (Preprint)

2017 ◽  
Author(s):  
Sara Huston Katsanis ◽  
Mollie A Minear ◽  
Azita Sadeghpour ◽  
Heidi Cope ◽  
Yezmin Perilla ◽  
...  
Keyword(s):  
Genetic Information ◽  
Research Team ◽  
Research Study ◽  
Genetic Research ◽  
Genomic Research ◽  
Active Engagement ◽  
Medical Conditions ◽  
Relevant Research ◽  
Research Results ◽  
To Receive

BACKGROUND Unlike aggregate research on groups of participants with a particular disorder, genomic research on discrete families’ rare conditions could result in data of use to families, their healthcare, as well as generating knowledge on the human genome. OBJECTIVE In a study of families seeking to rule in/out genetic causes for their children’s medical conditions via exome sequencing, we solicited their views on the importance of genomic information. Our aim was to learn the interests of parents in seeking genomic research data and to gauge their responsiveness and engagement with the research team. METHODS At enrollment, we offered participants options in the consent form for receiving potentially clinically relevant research results. We also offered an option of being a “partner” versus a “traditional” participant; partners could be re-contacted for research and study activities. We invited adult partners to complete a pre-exome survey, attend annual family forums, and participate in other inter-family interaction opportunities. RESULTS Of the 385 adults enrolled, 79% opted for “partnership” with the research team. Nearly all (99.2%) participants opted to receive research results pertaining to their children’s primary conditions. A majority indicated the desire to receive additional clinically relevant outside the scope of their children’s conditions (92.7%) and an interest in non-clinically relevant genetic information (82.7%). CONCLUSIONS Most participants chose partnership, including its rights and potential burdens; however, active engagement in study activities remained the exception. Not surprisingly, the overwhelming majority of participants—both partners and traditional—expected to receive all genetic information resulting from the research study.

scholarly journals The preferences of potential stakeholders in psychiatric genomic research regarding consent procedures and information delivery

2019 ◽  
Vol 55 ◽  
pp. 29-35 ◽  
Author(s):  
Anna Sundby ◽  
Merete Watt Boolsen ◽  
Kristoffer Sølvsten Burgdorf ◽  
Henrik Ullum ◽  
Thomas Folkmann Hansen ◽  
...  
Keyword(s):  
Informed Consent ◽  
Incidental Findings ◽  
Genetic Research ◽  
Genomic Research ◽  
Research Subjects ◽  
Cross Sectional ◽  
Telephone Consultation ◽  
Active Involvement ◽  
Consent Procedure ◽  
To Receive

AbstractBackground:Genomic sequencing plays an increasing role in genetic research, also in psychiatry. This raises challenges concerning the validity and type of the informed consent and the return of incidental findings. However, no solution currently exists on the best way to obtain the informed consent and deliver findings to research subjects.Aims:This study aims to explore the attitudes among potential stakeholders in psychiatric genomic research toward the consenting procedure and the delivery of incidental findings.Methods:We developed a cross-sectional web-based survey among five groups of stakeholders. A total of 2637 stakeholders responded: 241 persons with a mental disorder, 671 relatives, 1623 blood donors, 74 psychiatrists, and 28 clinical geneticists.Results:The stakeholders wanted active involvement as 92.7% preferred a specific consent and 85.1% wanted to receive information through a dynamic consent procedure. The majority of stakeholders preferred to receive genomic information related to serious or life-threatening health conditions through direct contact (69.5%) with a health professional, i.e. face-to-face consultation or telephone consultation (82.4%). Persons with mental disorders and relatives did not differ in their attitudes from the other stakeholder groups.Conclusion:The findings illustrate that the stakeholders want to be more actively involved and consider consent as a reciprocal transaction between the involved subjects and the researchers in the project. The results highlight the importance of collaboration between researchers and clinical geneticists as the latter are trained, through their education and clinical experience, to return and explain genomic data to patients, relatives, and research subjects.

scholarly journals Returning Individual Genetic Research Results to Research Participants: Uptake and Outcomes Among Patients With Breast Cancer

2018 ◽  
pp. 1-24 ◽  
Author(s):  
Angela R. Bradbury ◽  
Linda Patrick-Miller ◽  
Brian L. Egleston ◽  
Kara N. Maxwell ◽  
Laura DiGiovanni ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Cancer Susceptibility ◽  
Genetic Counselor ◽  
Genetic Research ◽  
Informed Choice ◽  
Multiple Primary Cancers ◽  
Research Results ◽  
Cancer Susceptibility Genes ◽  
Cancer Multiple ◽  
To Receive

Purpose Understanding the outcomes of returning individual genetic research results to participants is critical because some genetic variants are found to be associated with health outcomes and have become available for clinical testing. Materials and Methods BRCA1/2-negative women with early-onset breast cancer, multiple primary cancers, or a family history of breast cancer who participated in a gene discovery cancer registry were offered the opportunity to learn their individual genetic research results of 24 breast cancer susceptibility genes with a genetic counselor after predisclosure genetic counseling. Outcomes included uptake of research results, knowledge, informed choice, psychosocial adjustment, uncertainty, satisfaction, and uptake of clinical confirmation testing. Results Four hundred two potential participants were contacted. One hundred ninety-four participants (48%) did not respond despite multiple attempts, and 85 participants (21%) actively or passively declined. One hundred seven participants (27%) elected for predisclosure counseling and were more likely to be younger, married, and white. Ninety percent of participants who had predisclosure counseling elected to receive their genetic research results, and 89% made an informed choice. Knowledge increased significantly after predisclosure counseling, and anxiety, intrusive cancer-specific distress, uncertainty, and depression declined significantly after receipt of results. General anxiety and intrusive cancer-specific distress declined significantly for both participants with a positive result and those with a negative result. Sixty-four percent of participants had clinical confirmation testing when recommended, including all participants with a mutation in a high-penetrance gene. Conclusion Uptake of genetic research results may be lower than anticipated by hypothetical reports and small select studies. Participants who elected to receive research results with genetic providers did not experience increases in distress or uncertainty, but not all patients return for confirmation testing.

scholarly journals Legal problems related to transfer of genetic information in the case law: medical and research spheres

2020 ◽  
pp. 47-55
Author(s):  
Yulia Andreevna Melikhova
Keyword(s):  
Informed Consent ◽  
Genetic Information ◽  
Genetic Diseases ◽  
Genetic Research ◽  
Russian Literature ◽  
Case Law ◽  
The Subject ◽  
Voluntary Informed Consent ◽  
Attending Physician ◽  
To Receive

The subject of this article is the analysis of mainly foreign case law on the transfer of genetic information in the spheres of medicine and scientific research.. The author addresses the positions of courts on private issues such as: the responsibility of attending physician and third parties to inform relatives of a patient about the risks of genetic diseases, rights of relatives to access genetic information after a patient has died, acquisition of a voluntary informed consent for participating in research. Comparison is conducted on approaches of the courts in other regions and countries in reviewing similar cases. The novelty of the research lies in the choice of the topic and obtained conclusions. The author analyzes foreign case law on the transfer of genetic information in the medical and research spheres, which has not previously been a subject of separate study in the Russian literature. The conclusion is formulated on the absence of universal position of the courts on the question of understanding the content of genetic information, limits of the rights of relatives to receive genetic information of a patient. The courts are unanimous in their decisions (or the cases are isolated) on the matter that participation in genetic research must be preceded by a voluntary informed consent, which can be presumed and applies exclusively to the research agreed to. The participants do not have rights to results of the research, and the discovered genes cannot be patented by the researchers.

scholarly journals Return of Genetic Research Results to Participants and Families: IRB Perspectives and Roles

2015 ◽  
Vol 43 (3) ◽  
pp. 502-513 ◽  
Author(s):  
Laura M. Beskow ◽  
P. Pearl O'Rourke
Keyword(s):  
Genetic Information ◽  
Genetic Research ◽  
Family Members ◽  
Research Process ◽  
Secondary Users ◽  
Consent Forms ◽  
Research Results ◽  
Considerable Debate ◽  
The Subject ◽  
Genetic Results

Whether or not to offer individual genetic results to research participants has been the subject of considerable debate, yet consensus regarding what, when, and how to return remains elusive. Despite this lack of clarity, the discussion has moved to the offer of research results to family members of participants, including when the participant is deceased. Given the familial implications of genetic information, this extension is perhaps logical. But it raises concerns throughout the research process, including, for example, questions about disclosures and choices on consent forms, procedures for identifying and contacting family members, and how any such obligations might apply to secondary users of biospecimens and data.

scholarly journals Participants’ Preferences and Reasons for Wanting Feedback of Individual Genetic Research Results From an HIV-TB Genomic Study: A Case Study From Botswana

2021 ◽  
Vol 16 (5) ◽  
pp. 525-536
Author(s):  
Dimpho Ralefala ◽  
Mary Kasule ◽  
Olivia P. Matshabane ◽  
Ambroise Wonkam ◽  
Mogomotsi Matshaba ◽  
...  
Keyword(s):  
Qualitative Study ◽  
Ethical Issue ◽  
Genetic Research ◽  
Research Results ◽  
Genomic Study ◽  
Genomics Research ◽  
Almost All ◽  
To Receive ◽  
Genetic Results

The feedback of individual results of genomics research is an ethical issue. However, which genetic results African participants would like to receive and why, remains unclear. A qualitative study was conducted to collect data from 44 adolescents and 49 parents/caregivers of adolescents enrolled in a genomic study in Botswana. Almost all the participants wanted to receive genetic results. Parents and caregivers wanted to receive results across all categories of genetic conditions discussed in the study, while adolescents were reluctant to receive results for severe, non-preventable, and unactionable conditions. Participants expressed different reasons for wanting feedback of results, including for awareness, improving lifestyle, accepting one’ situation, and preparing for the future. Our findings also reveal that participants’ context, relations, and empowerment are important to consider in interpreting their preferences for feedback of results.

scholarly journals Enhancing Autonomy in Biobank Decisions: Too Much of a Good Thing?

2018 ◽  
Vol 13 (2) ◽  
pp. 125-138 ◽  
Author(s):  
Phoebe B. Mitchell ◽  
Sonja I. Ziniel ◽  
Sarah K. Savage ◽  
Kurt D. Christensen ◽  
Elissa R. Weitzman ◽  
...  
Keyword(s):  
Genetic Information ◽  
Pediatric Patients ◽  
Good Thing ◽  
Return Of Results ◽  
Research Results ◽  
Biobank Research ◽  
Perceived Benefit ◽  
Individual Research Results ◽  
To Receive ◽  
The Relationship

The opportunity to receive individual research results (IRRs) in accordance with personal preferences may incentivize biobank participation and maximize perceived benefit. This trial investigated the relationship between parents’ preferences and intent to participate (ITP) in biobank research utilizing their child’s genetic information. We randomized parents of pediatric patients to four hypothetical biobanks, one of which employed a preference-setting model for return of results regarding their child. ITP was highest among those desiring all types of IRRs (93.3%) and decreased as participants became increasingly selective with their preferences ( p < .0001). We demonstrated that most parents would participate in a biobank that allows for preference setting; however, those who set preferences to receive a narrower set of IRRs are less likely to participate.

scholarly journals 3409 The Power of Phenotypic Extremes in Detecting Novel Genetic Modifiers of Hemophilia

2019 ◽  
Vol 3 (s1) ◽  
pp. 23-24
Author(s):  
Ohad Shimshon Bentur ◽  
Barry S. Coller
Keyword(s):  
Informed Consent ◽  
Genetic Information ◽  
Genetic Modifier ◽  
Genetic Research ◽  
Informed Consent Process ◽  
Consent Process ◽  
Genetic Modifiers ◽  
Research Results ◽  
Study Participants ◽  
Actionable Variants

OBJECTIVES/SPECIFIC AIMS: 1. To identify novel genetic modifiers that result in a mild bleeding phenotype in patients with FVIII <1%. 2. To examine the feasibility of a practice model that incorporates the principles and methods for both obtaining consent for NGS and returning individual research results from the sources described above. METHODS/STUDY POPULATION: 1. We plan a 3-step approach for identifying novel genetic modifiers of hemophilia: a. Obtain samples from individuals with an extremely mild bleeding phenotype: The study will be narrowed to patients with confirmed FVIII <1%, a null mutation in the gene for FVIII, and a mild bleeding phenotype according to a detailed bleeding history. b. Identify variants that modify phenotype: Whole exome sequencing will be performed, followed by a focused analysis of genes known or suspected to be involved in thrombosis and hemostasis and prediction of variant impact using algorithms that account for conservation and deleteriousness of all variants. c. Verify the impact of novel variants in independent samples: In silico (analyze genetic databases for suspected variants), in vivo (assess bleeding in animal models of hemophilia after introducing presumed modifier variants). 2. We will employ a model for obtaining informed consent and communicating individual genetic research results and results with potential clinical impact to research participants: a. The informed consent process will be performed after potential participants read a pamphlet entitled “Genetic Research at The Rockefeller University Hospital and Center for Clinical and Translational Science.” The pamphlet includes 16 questions that the potential participants are urged to ask the investigator, including, “What will you look for in my genetic information?”, “Will I receive results from this study?”. Potential participants will also be informed of the meaning of clinically actionable variants, either pathogenic variants related to phenotype or secondary (“incidental”) findings (i.e. variants unrelated to phenotype, the knowledge of which could lead to actions that may improve health). Participants who do not want to receive information about potentially actionable variants will be excluded from the study to avoid a situation where the investigator has clinically important information that cannot be shared with the participant. b. Genetic testing will be performed in a CLIA-certified lab to allow investigators to share the results with the study participants. c. Results will be reported to study participants according to a standard operating procedure (SOP) that classifies the report of variants according to the relation to phenotype and the pathogenic potential. d. Participant satisfaction with the informed consent process and the return of results will be assessed by a questionnaire for obtaining participants’ perceptions of their research experience, based on a standard set of validated research participation experiences measures (Kost RG et al, J Clin Transl Sci. 2018;2:31). RESULTS/ANTICIPATED RESULTS: Samples from individuals with severe null mutation hemophilia and a mild bleeding phenotype will be enriched in genetic modifier variants. After completing participation, participants will express satisfaction with the informed consent process and the results of the return of genetic information. DISCUSSION/SIGNIFICANCE OF IMPACT: Genetic risk assessment to predict bleeding risk has the potential to provide hemophilia patients with tailored therapy, allowing for very early initiation of treatment (prophylactic thrice weekly IV administration of FVIII) in patients with a high bleeding risk and deferring this costly and burdensome treatment in patients who are expected to be mild bleeders. Genetic modifier variants of hemophilia may be found to predict thrombosis in non-hemophiliac patients and profoundly impact the treatment of venous thrombosis. A structured process for obtaining consent for NGS and return of genetic results to study participants can protect them from uncertain genetic information. Moreover, this process will prevent a situation in which investigators have knowledge about clinically actionable variants but they are not allowed to report them to the participants or do not have a process for doing so. Sharing individual research results and results with clinical significance with participants of studies that involve whole exome sequencing can promote transparency and engagement of participants throughout the research enterprise.

scholarly journals Preferences and Expectations of Feedback of Individual Genetic Research Results in African Genomics: Views of South African Parents of Children With Neurodevelopmental Conditions

2020 ◽  
Author(s):  
Olivia Precious Matshabane ◽  
Cleo A Albertus ◽  
Marlyn C Faure ◽  
Dimpho Ralefala ◽  
Kirsten A Donald ◽  
...  
Keyword(s):  
South African ◽  
Genetic Research ◽  
Focus Group Discussions ◽  
Group Discussions ◽  
Research Results ◽  
Lifestyle Choices ◽  
Genomics Research ◽  
Psychological Harm ◽  
To Receive ◽  
Genetic Results

Abstract BackgroundGenomic medicine is expanding at an exponential pace across the globe and increased access to genome analysis has led to greater generations of genetic results with specific relevance to individuals. AimThis study aims to explore preferences and expectations of feedback of individual genetic research results among parents of children with neurodevelopmental conditions. MethodsFollowing a qualitative approach, we conducted four deliberative focus group discussions with (n=27) South African parents of children involved in genomics research on neurodevelopmental conditions. ResultsMost participants expressed a strong interest in receiving individual genetic results regardless of severity, actionability and preventability. These results were viewed as valuable because they could empower or emancipate individuals, families and communities. Receiving risk information was also believed to motivate healthier lifestyle choices. However, some participants were uncertain or articulated a desire not to receive results due to fears of anxiety or psychological harm. In addition, participants expected to receive results as a demonstration of respect from researchers and articulated it as an act to build trust between researchers and participants. ConclusionsInternationally, a debate continues around whether individual genetic results should or should not be fed back to participants of research studies. In Africa, there is scant literature which has investigated this question and no policies to guide researchers. This study provides a basis of empirical data on perspectives of African participants which could inform work on the development of a consolidated approach to the feedback of incidental findings in the continent.

scholarly journals Canadian Research Ethics Board Leadership Attitudes to the Return of Genetic Research Results to Individuals and Their Families

2015 ◽  
Vol 43 (3) ◽  
pp. 514-522 ◽  
Author(s):  
Conrad V. Fernandez ◽  
P. Pearl O'Rourke ◽  
Laura M. Beskow
Keyword(s):  
Ethical Issues ◽  
Genetic Research ◽  
Research Participant ◽  
Genomic Research ◽  
Next Of Kin ◽  
Potential Health ◽  
Clinical Model ◽  
Research Results ◽  
Consensus Statements ◽  
Genetic Results

The return of individual genetic results to research participants has been widely discussed in the context of an explosion of genetic research utilizing an ever more rapid and inexpensive array of sequencing and bioinformatics platforms. To date, a number of consensus statements guide researchers as to the breadth and limits of their obligations for offering genomic research results to participants. Typically these recommendations are rooted in the result’s clinical validity, actionability, and potential health consequences, and are predicated on the informed consent of the participant. An emerging discussion is the challenging question of the degree to which researchers may additionally have responsibility for offering results to family members of the research participant. Some have argued that ethical obligations to relatives intensify as the significance and actionability of the result increase, while others claim that obligations to next of kin should follow the clinical model where the decision to share genetic results falls to the patient. A detailed reflection on the many ethical issues that arise in considering whether such a responsibility exists, and if so how to honor it, is presented in this issue of JLME by Wolf et al.

scholarly journals Practical Importance of Genetic Research Results when Developing an Insurance Product for Personal Insurance: International Experience

2019 ◽  
Vol 8 (2) ◽  
pp. 4123-4127
Keyword(s):  
Genetic Information ◽  
Insurance Coverage ◽  
Practical Importance ◽  
Genetic Research ◽  
Modern Science ◽  
Insurance Companies ◽  
Research Results ◽  
Insurance Product ◽  
The Right ◽  
Personal Insurance

This article considers the practical importance of genetic research results when developing an insurance product. The modern science, which allows obtaining information not only about the current state of health, but also about the risks of various diseases, challenges the possibility of using genetic information in insurance. The main goal of the study is to consider the possibility to use genetic information when concluding a personal insurance agreement for assessing the risks of an insured event, taking into account long-term obligations of insurance companies. The methods of collecting and studying singularities, generalization methods, scientific abstraction methods, and method of inquiry into regularities were used in the article. It has been concluded that it is necessary to use a differentiated approach when using genetic information in insurance. Full protection against genetic discrimination requires to completely prohibit insurance companies to use any information about genes, gene products, or inherited characteristics as a basis for refusing or limiting insurance coverage. The only area where it is allowed to use genetic information is medical insurance because it is impossible to postulate the right to life insurance without genetic testing if the agreement provides a broader insurance coverage. In order to maintain a balance of interests between insurants (insured persons) and insurers, it seems acceptable to use genetic information when concluding voluntary life and health insurance agreements that, above all, provide annuity payments. It is necessary to use genetic information in insurance when assessing the risks of real occurrence of a genetic disease. This approach will allow to practically minimize risks of insurance companies and to take into account the interests of an insured person.

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