The Experts below are selected from a list of 7200 Experts worldwide ranked by ideXlab platform
Clare A Gibbons - One of the best experts on this subject based on the ideXlab platform.
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prenatal and preconception genetic Counseling for consanguinity consanguineous couples expectations experiences and perspectives
Journal of Genetic Counseling, 2019Co-Authors: Emily Thain, Cheryl Shuman, Kristen Miller, Karen Sappleton, Diane Mylesreid, David Chitayat, Clare A GibbonsAbstract:Consanguinity, the union between two individuals who are related as second cousins or closer, is a long-standing and respected tradition in many communities. Although there are social and economic benefits of consanguineous unions, offspring are at increased risk of having an inherited genetic condition or congenital anomaly. Genetic Counseling services for consanguinity are available to couples at many centers. However, little is known about patient expectations of and experiences with genetic Counseling for this indication, or their perspectives on genetic screening relevant to family planning, such as expanded carrier screening (ECS). This exploratory qualitative study involved interviews with 13 individuals who had recently received preconception or prenatal genetic Counseling for consanguinity at a single center. We sought to gain insight into their expectations for the genetic Counseling Session, experiences discussing family history and reproductive risks with the genetic counselor, and views on ECS. Interview transcripts were analyzed using an interpretive descriptive approach. Data analysis revealed three main themes: (a) anticipation balances apprehension before the appointment; (b) genetic Counseling reduces anxiety and empowers; and (c) the need for wider information dissemination about consanguinity-related risks and genetic services. Our findings support the personal utility of genetic Counseling for consanguinity and demonstrate the need for increased visibility and access to genetics information, Counseling, and testing relevant to this patient population.
David Chitayat - One of the best experts on this subject based on the ideXlab platform.
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prenatal and preconception genetic Counseling for consanguinity consanguineous couples expectations experiences and perspectives
Journal of Genetic Counseling, 2019Co-Authors: Emily Thain, Cheryl Shuman, Kristen Miller, Karen Sappleton, Diane Mylesreid, David Chitayat, Clare A GibbonsAbstract:Consanguinity, the union between two individuals who are related as second cousins or closer, is a long-standing and respected tradition in many communities. Although there are social and economic benefits of consanguineous unions, offspring are at increased risk of having an inherited genetic condition or congenital anomaly. Genetic Counseling services for consanguinity are available to couples at many centers. However, little is known about patient expectations of and experiences with genetic Counseling for this indication, or their perspectives on genetic screening relevant to family planning, such as expanded carrier screening (ECS). This exploratory qualitative study involved interviews with 13 individuals who had recently received preconception or prenatal genetic Counseling for consanguinity at a single center. We sought to gain insight into their expectations for the genetic Counseling Session, experiences discussing family history and reproductive risks with the genetic counselor, and views on ECS. Interview transcripts were analyzed using an interpretive descriptive approach. Data analysis revealed three main themes: (a) anticipation balances apprehension before the appointment; (b) genetic Counseling reduces anxiety and empowers; and (c) the need for wider information dissemination about consanguinity-related risks and genetic services. Our findings support the personal utility of genetic Counseling for consanguinity and demonstrate the need for increased visibility and access to genetics information, Counseling, and testing relevant to this patient population.
Diane Mylesreid - One of the best experts on this subject based on the ideXlab platform.
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prenatal and preconception genetic Counseling for consanguinity consanguineous couples expectations experiences and perspectives
Journal of Genetic Counseling, 2019Co-Authors: Emily Thain, Cheryl Shuman, Kristen Miller, Karen Sappleton, Diane Mylesreid, David Chitayat, Clare A GibbonsAbstract:Consanguinity, the union between two individuals who are related as second cousins or closer, is a long-standing and respected tradition in many communities. Although there are social and economic benefits of consanguineous unions, offspring are at increased risk of having an inherited genetic condition or congenital anomaly. Genetic Counseling services for consanguinity are available to couples at many centers. However, little is known about patient expectations of and experiences with genetic Counseling for this indication, or their perspectives on genetic screening relevant to family planning, such as expanded carrier screening (ECS). This exploratory qualitative study involved interviews with 13 individuals who had recently received preconception or prenatal genetic Counseling for consanguinity at a single center. We sought to gain insight into their expectations for the genetic Counseling Session, experiences discussing family history and reproductive risks with the genetic counselor, and views on ECS. Interview transcripts were analyzed using an interpretive descriptive approach. Data analysis revealed three main themes: (a) anticipation balances apprehension before the appointment; (b) genetic Counseling reduces anxiety and empowers; and (c) the need for wider information dissemination about consanguinity-related risks and genetic services. Our findings support the personal utility of genetic Counseling for consanguinity and demonstrate the need for increased visibility and access to genetics information, Counseling, and testing relevant to this patient population.
Kristen Miller - One of the best experts on this subject based on the ideXlab platform.
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prenatal and preconception genetic Counseling for consanguinity consanguineous couples expectations experiences and perspectives
Journal of Genetic Counseling, 2019Co-Authors: Emily Thain, Cheryl Shuman, Kristen Miller, Karen Sappleton, Diane Mylesreid, David Chitayat, Clare A GibbonsAbstract:Consanguinity, the union between two individuals who are related as second cousins or closer, is a long-standing and respected tradition in many communities. Although there are social and economic benefits of consanguineous unions, offspring are at increased risk of having an inherited genetic condition or congenital anomaly. Genetic Counseling services for consanguinity are available to couples at many centers. However, little is known about patient expectations of and experiences with genetic Counseling for this indication, or their perspectives on genetic screening relevant to family planning, such as expanded carrier screening (ECS). This exploratory qualitative study involved interviews with 13 individuals who had recently received preconception or prenatal genetic Counseling for consanguinity at a single center. We sought to gain insight into their expectations for the genetic Counseling Session, experiences discussing family history and reproductive risks with the genetic counselor, and views on ECS. Interview transcripts were analyzed using an interpretive descriptive approach. Data analysis revealed three main themes: (a) anticipation balances apprehension before the appointment; (b) genetic Counseling reduces anxiety and empowers; and (c) the need for wider information dissemination about consanguinity-related risks and genetic services. Our findings support the personal utility of genetic Counseling for consanguinity and demonstrate the need for increased visibility and access to genetics information, Counseling, and testing relevant to this patient population.
Eveline M A Bleiker - One of the best experts on this subject based on the ideXlab platform.
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the efficacy of a standardized questionnaire in facilitating personalized communication about problems encountered in cancer genetic Counseling design of a randomized controlled trial
BMC Cancer, 2014Co-Authors: Willem Eijzenga, Neil K Aaronson, Irma Kluijt, Grace N Sidharta, Daniela Ee Hahn, Margreet G E M Ausems, Eveline M A BleikerAbstract:Background: Individuals with a personal or family history of cancer, can opt for genetic Counseling and DNAtesting. Approximately 25% of these individuals experience clinically relevant levels of psychosocial distress, depression and/or anxiety after Counseling. These problems are frequently left undetected by genetic counselors. The aim of this study is to evaluate the efficacy of a cancer genetics-specific screening questionnaire for psychosocial problems, the ‘Psychosocial Aspects of Hereditary Cancer (PAHC) questionnaire’ together with the Distress Thermometer, in: (1) facilitating personalized counselor-counselee communication; (2) increasing counselors’ awareness of their counselees’ psychosocial problems; and (3) facilitating the management of psychosocial problems during and after genetic Counseling. Methods: This multicenter, randomized controlled trial will include 264 individuals undergoing cancer genetic Counseling in two family cancer clinics in the Netherlands. Participant sw ill be randomized to either: (1) an intervention group that completes the PAHC questionnaire, the results of which are made available to the genetic counselor prior to the Counseling Session; or (2) a control group that completes the PAHC questionnaire, but without feedback being given to the genetic counselor. The genetic Counseling Sessions will be audiotaped for content analysis. Additionally, study participants will be asked to complete questionnaires at baseline, three weeks after the initial Counseling Session, and four months after a telephone follow-up Counseling Session. The genetic counselors will be asked to complete questionnaires at the start of and at completion of the study, as well as a checklist directly after each Counseling Session. The questionnaires/checklists of the study include items on communication during genetic Counseling, counselor awareness of their clients’ psychosocial problems, the (perceived) need for professional psychosocial support, cancer worries, general distress, specific psychosocial problems, satisfaction with care received, and experience using the PAHC questionnaire. Discussion: This study will provide empirical evidence regarding the efficacy of a relatively brief psychosocial screening questionnaire in terms of facilitating personalized communication, increasing counselors’ awareness, and optimizing management of psychosocial problems in the cancer genetic Counseling setting. Trial registration: This study is registered at the Netherlands Trial Register (NTR3205) and ClinicalTrials.gov (NCT01562431).
