Genomic Services Research Program
概览
- 阶段
- 不适用
- 干预措施
- Cascade Testing
- 疾病 / 适应症
- Colon Cancer
- 发起方
- National Human Genome Research Institute (NHGRI)
- 入组人数
- 5000
- 试验地点
- 1
- 主要终点
- Health impacts of SF receipt
- 状态
- 招募中
- 最后更新
- 昨天
概览
简要总结
Background:
Genes are the instructions a person s body uses to function. Genome sequencing reads through all of a person s genes. Everyone has many gene variants, and most do not cause disease. Some gene variants called secondary findings may be important for a person s health even if they are not related to the reason why a person had genome sequencing done. Researchers want to learn more about what it means to have a secondary finding.
Objectives:
To learn about how gene variants may affect a person s health.
To learn about how people understand their genetic test results.
Eligibility:
People with secondary findings from genetic testing done as part of a research study, clinical care, or other methods.
Design:
Participants may be asked to do an online survey and phone interview to ask what they think about their results, their healthcare, and if they talk with their family about the result.
Eligible participants may be offered a visit to the NIH Clinical Center where they will be evaluated for health problems related to the secondary finding.
DNA samples that were already collected may be studied.
Participants may be asked to send in a second DNA sample (blood or saliva). These will be used to verify any findings.
Participants who have a secondary finding can get genetic counseling....
详细描述
The implementation of genome and exome sequencing creates challenges and opportunities, particularly with respect to the return of medically-actionable secondary findings (SF). This study seeks to investigate the utility and effectiveness of returning SF generated via research or clinical sequencing by studying individuals who have received such findings. Our objectives with this protocol have evolved over time and have been substantially informed by our experiences in returning SF through sequencing initiatives such as the ClinSeq(R) study, the Clinical Center Genomics Opportunity (CCGO), and the Secondary Genomic Findings Service (SGFS). Our work with these studies/initiatives suggests that much remains unknown about how recipients of SF understand these findings, communicate them to their health professionals and families, and whether they adhere to recommended health-preserving actions in both the short and long-term. As well, recipients of SF are an unselected population in which to investigate penetrance of disorders associated with SF genes. Thus, this protocol aims to explore important questions of clinical utility associated with SF return and penetrance of SF-related disorders. Healthcare actions and family communication (clinical utility) are assessed by interviews and surveys with SF recipients. This protocol also includes a pilot program in which selected participants will be invited to the NIH for bespoke phenotyping to uncover the presence of disease and explore avenues to develop interventions to enhance outcomes.
研究者
入排标准
入选标准
- •ELIGIBILITY CRITERIA:
- •We employ a referral form through SurveyMonkey to receive referrals from recruitment partners or self-referrals. This serves as an intake form and self-reported eligibility review. This form asks for contact information, key information about the prospective participant s SF,
- •and subjective understanding of their result.
- •If we conclude, based on a review of the SF and available personal and/or family history, that the pathogenicity of the SF is not at least likely pathogenic, that participant may be eligible for the survey, interview, and/or re-contact for future follow-up, but will not complete any other protocol procedures (such as cascade testing). If a participant is consented and information arises during the social and behavioral study procedures that lead study staff to believe the genetic result does not qualify as an SF, the participant will be
- •considered a screen failure and will not continue with study procedures.
- •We plan to offer enrollment in this protocol to English- or Spanish-speaking recipients of SF. We do not have trained staff who can conduct the interviews in languages other than English and Spanish.
- •If a caregiver of a minor or adult who is unable to consent is enrolled as an index participant to complete the survey and interview on behalf of the SF recipient, they may also be eligible for cascade testing to relate presence of an SF-related phenotype in a family member with presence or absence of SF genotype.
- •We may enroll a child in this protocol if he/she is the only person in his/her family who has the SF, is symptomatic of the disease, or is in the age range to receive screening for the disease (e.g., Wilson disease and familial hypercholesterolemia have childhood onset).
- •We will not enroll neonates (less than one month old).
- •We may enroll adults who are unable to consent (i.e., an individual who is impaired at the time of consent) in this protocol if he/she is the only person in his/her family who has the SF, is symptomatic of the disease, or is in the age range to receive screening for the disease.
排除标准
- 未提供
研究组 & 干预措施
Cascade Testing
Family members of individuals who have received secondary genomic findings after exome/genome sequencing
Secondary findings recipients
Individuals who have received secondary genomic findings after exome/genome sequencing
结局指标
主要结局
Health impacts of SF receipt
时间窗: enrollment and return of results
We will assess the health impacts of SF receipt and healthcare processes affecting outcomes in SF recipients.
Adherence to medical recommendations
时间窗: enrollment and return of results
We will assess what individual, community, and systemic factors influence recipients' follow through on recommendations and how they communicate SF results with family members.
Family based positive predictive value
时间窗: return of results and cascade testing
We will assess penetrance using the family-based positive predictive value metric
Responses and perceptions
时间窗: enrollment and return of results
We will assess affective responses and healthcare and behavioral changes to receiving positive SF results