Personal Genomics: A Safety Study Assessing the Effects of Receiving Genome Sequencing Results
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 8
- 试验地点
- 1
- 主要终点
- Psychological distress
研究概览
简要总结
This study uses new methods called "genome sequencing" that allow the investigators to study part or all of a person's genome. The genome is the collection of all of a person's genes. Genes carry the instructions that our bodies need to develop and function. Genes are passed on from one generation to the next. Genome sequencing can study all of a person's genome (whole genome sequencing) or just parts of their genome (whole exome sequencing). In the study, the investigators refer to all these research methods as 'genome sequencing'. Genome sequencing typically shows a large number of gene changes, known as "variants." Some (but not all) of these genetic variants may be linked to increased risks of diseases other than cancer.
The purpose of this study is to learn what kinds of genetic variants the patient wants to learn about from their genome.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Cancer survivors (sample #1):
- •Consented individuals with a personal history of cancer enrolled on protocols 09-068 or 96-051 who have indicated their interest in participating in future research or learning their results, defined as either:
- •For samples #1-2: checking "yes" to the re-contact question in their consent form; or,
- •checking "I wish to know these results" in their consent form.
- •Unaffected Relatives (sample #2):
- •Consented individuals with no personal history of cancer enrolled on protocols 09-068 and 96-051 (parents or siblings of probands) who have indicated their interest in participating in future research or learning their results, defined as either:
- •checking "yes" to the re-contact question in their consent form or,
- •checking "I wish to know these results" in their consent form
- •Focus group participants (sample #3- hypothetical group):
- •Individuals with or without a personal history of cancer
排除标准
- •Non-English speakers; or,
- •Individuals < 18 years of age; or
- •Individuals unable to complete the follow-up assessments (e.g., unavailable to complete questionnaires over the 12-month study period).
- •For samples #1-2: Individuals who indicate in their consent form that they do not want to
- •checking "no" to the re-contact question in their consent form; or,
- •checking "I prefer not to know these results" in their consent form
- •Cases where it is unclear whether individuals' are interested in participating in future research or learning their results, defined as:
- •Not answering the re-contact question in their consent form (i.e., left blank); or,
- •Not answering the re-contact question because it did not exist in the version of the consent form that was originally signed (i.e., re-contact question missing).
结局指标
主要结局
Psychological distress
时间窗: 2 years
of receiving incidentally identified disease risk results from whole genome/exome sequencing. Safety is defined as no more than 20% of participants experiencing clinically meaningful levels of distress at 1 week follow-up, as measured by the Hospital Anxiety \& Depression Scale (HADS; score \> or = to 8 on the anxiety sub-scale). Patients will be considered evaluable for the primary outcome if they are not distressed at baseline and have completed the 1 week follow-up assessment.
次要结局
未报告次要终点