View clinical trials related to Genetic Counseling.
Filter by:The identification of mutations in cancer susceptibility genes is important as it makes it possible to recommend specific cancer treatments, implement risk reduction strategies or early detection of cancer, and identify family members at risk. The guidelines for evaluating patients who are candidates for genetic testing recommend pre-test genetic counseling. However, the limited number of specialists trained to provide genetic counseling worldwide, and particularly in developing countries such as Mexico, makes it difficult to implement such recommendations. The present proposal aims to compare, through a randomized non-inferiority study, a pre-test education strategy using a pre-recorded video against in-person counseling. This strategy could potentially increase access in places with limited resources. The general hypothesis of the research is that patients who are candidates for cancer genetic susceptibility testing who receive pre-test education via video will consent to genetic testing in the same proportion as those who receive it during an in-person visit. The specific objectives of the study include: 1) to compare the proportion of patients who are tested in both groups; 2) to assess knowledge about hereditary cancer in both groups after the intervention; 3) assess anxiety symptoms in both groups after the intervention; and 4) assess satisfaction with the information received during the intervention.Patients >18 years of age who meet the criteria for genetic testing to evaluate genetic cancer susceptibility genes and who have not previously undergone genetic testing or genetic counseling will be invited. The intervention group will receive education via pre-recorded video and the control group will receive genetic counseling during an in-person consultation.
We aim to assess the usefulness of systematic reinterpretation of CNV of unknown significance. To investigate this question we will study all CNV of unknown significance detected between 2010 and 2017.
It is well established that screening for Down syndrome should be offered in the first trimester to each pregnant woman. The most common screening method is nowadays the first trimester combined test which consists of a Bayesian analysis of the a priori risk of maternal age for Down's syndrome, and the posterior risk combining serum biomarkers such as beta fraction of the human chorionic gonadotropin (β-hCG), pregnancy-associated plasma protein-A (PAPP-A), and nuchal translucency measurement. Women at high risk for trisomy 21 or 18 using this combined test are eligible for chorionic villous sampling or amniocentesis for a final diagnosis. In recent years there has been a huge advance in prenatal screening for Down's syndrome with the advent of cell free DNA testing with higher sensitivity and specificity than the combined test, in which a positive result must be also confirmed by an invasive diagnostic procedure. But as the range of options broadens, also the need for health education to allow women to have an adequately informed decision process on which prenatal test better suits their needs. In multicultural cities, this has become especially important to integrate patient's values and expectations to an evidence-based decision regarding prenatal testing. There is high-quality evidence demonstrating that aversion to risk of fetal loss related to an invasive test may come from incomplete information, shaping the attitude towards which test to choose from the mother's point of view. And the disbelief that by taking cfDNA testing the risk of miscarriage would be reduced. Many information is available about preferences and attitudes in prenatal testing from Northern European studies, but scarce information is available from Southern Europe, where the amniocentesis rate in the nineties was as high as 40% of the urban pregnant population. The investigators hypothesize that when enough information is given before the initial screening, women will overcome aversion to invasive testing and will be more likely to choose this method as their first choice when compared to women having routine care.
The goals of this study are: To assess the impact of genetic testing based on how it alters behaviors, to assess the utility of serum biomarker measurement in combination with genetic testing, to assess the utility of genetic counseling in personal analysis of risk for age-related macular degeneration (AMD), and to assess the impact of presymptomatic genetic testing for choroidal neovascularization (CNV).
Using mixed methods, investigators will conduct a multicenter partially randomized preference noninferiority trial with high-risk English-, Spanish-, and Cantonese-speaking patients assigned by (1) patients´ preference or (2) randomization to three counseling modes: (a) in-person; (b) phone; or (c) video conference. A total of 600 patients will complete counseling and 540 will complete the final survey. Baseline and post-counseling surveys will use validated measures (adapted for literacy and language) of study outcomes. All counseling sessions will be audio-taped. A sample of 90 tapes will be analyzed for counseling content and to identify 30 participants for in-depth interviews and analysis triangulating all forms of data. Genetic counselors will be interviewed in depth to elicit their perceptions of the strengths and limitations of each counseling mode.
This study will examine the experience of moral value conflicts among genetic counselors. Previous research has shown that value conflicts do exist among genetic counselors, but little is known about the nature or consequences of these conflicts. This is a sub-study of the "Manifestations and Consequences of Moral Distress Among Genetic Service Providers: An Exploratory Study," which includes genetic counselors, nurses and medical geneticists. Genetic counselors are recruited for this value-conflict sub-study from among those participating in the Moral Distress study. Participants are interviewed in-depth by telephone about their experiences of moral value conflicts with clients. The interviews cover the following: situations in which the counselor has disagreed with a client's decision or views on a moral level; the counselor's thought processes during and after a session in which conflicts arise; the counselor's feelings and emotions associated with sessions involving a moral value conflict; the counselor's current and previous work settings; the counselor's view of his or her role and responsibility in a client's decision; challenging a client's values or decision; and preparation for value conflicts.
This study will explore adult adoptees' perceptions of the potential value of genetic and family history information. Unlike most people, many adopted individuals do not have access to personal or family medical information because of laws and practices that prevent disclosure. Research suggests that adopted individuals are interested in obtaining this information about their biological families. This study will examine adoptees': - Satisfaction with the amount of genetic information they have, their motivations for wanting more information, and when it becomes important for them to have this information. - Perceptions of the degree to which they believe genetics and family history influence various traits and conditions. The study will also explore adoptees' interactions with health care providers so that recommendations can be developed for helping genetic counselors meet the needs of these individuals. English-speaking adoptees 18 years of age and older are eligible for this study. Those enrolled will participate in a one-time telephone interview that will take about 45 to 60 minutes. The interview will obtain demographic information, such as the adoptee's age, sex, racial and ethnic background, marital status, and education level, and will include questions in the following areas: - Personal adoption story; - Perceptions of the role of the biological family history and medical information and its importance and usefulness; - Perceptions of the influence of genetics and family history on health; - Reproductive history and pregnancy concerns related to being adopted; - Experiences and interactions with health care providers related to adoption; - Suggestions for improving interactions with health care providers.
This study will examine the process of prenatal genetic counseling to determine how various client and counselor factors affect the communication process in a counseling session. The specific aims of the study are to: - Provide information on prenatal genetic counselors' interactions with clients for the basis of a future larger study of the genetic counseling process. - Determine the average length and the range of length of prenatal genetic counselors' interactions with clients when family history information has already been provided. - Document on videotape the communication content and interaction dynamics of prenatal genetic counselors interacting with clients in order to: - Characterize different models of prenatal genetic counseling - Determine the nature of discussions concerning cystic fibrosis carrier testing within the context of prenatal genetic counseling. - Examine the impact of prenatal genetic counselors' characteristics (years of experience, training and background, age, clinical setting, anxiety) on the communication content and interaction dynamics of sessions with clients. - Examine the impact of the presence of a spouse on the communication content and interaction dynamics of prenatal genetic counseling sessions with clients. - Examine the impact of client verbal emotional cues on the communication content and interaction dynamics of prenatal genetic counseling sessions. Counselors will be recruited for this study from among practicing prenatal genetic counselors at regional meetings and a national meeting of the National Society of Genetic Counselors. They will perform prenatal genetic counseling sessions with actors in the roles of client and client's spouse. The sessions will be videotaped, and the counselor and actors will fill out questionnaires regarding the characteristics of the counselor and the session. Counselors may be contacted later to request permission to use segments of their videotaped sessions for creating a video teaching tool for counseling professionals that illustrates different ways to practice the genetic counseling.