The Experts below are selected from a list of 984 Experts worldwide ranked by ideXlab platform
Patrick M Lynch - One of the best experts on this subject based on the ideXlab platform.
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who should be sent for genetic testing in hereditary colorectal cancer syndromes
Journal of Clinical Oncology, 2007Co-Authors: Henry T Lynch, Jane F Lynch, Richard C Boland, Miguel A Rodriguezbigas, Christopher I Amos, Patrick M LynchAbstract:Genetic testing is being adopted increasingly to identify individuals with germline mutations that predispose to hereditary colorectal cancer syndromes. Deciding who to test and for which syndrome is of concern to members of the GI oncology community, molecular Geneticists, and genetic counselors. The purpose of this review is to help provide guidelines for testing, given that the results influence syndrome diagnosis and clinical management. Although family history may determine whether testing is appropriate and may direct testing to the most informative family member, evolving clinicopathologic features can identify individual patients who warrant testing. Thus, although the usual absence of clinical premonitory signs in hereditary nonpolyposis colorectal cancer (or Lynch syndrome) adds difficulty to its diagnosis, use of the Amsterdam Criteria and Bethesda Guidelines can prove helpful. In contrast, premonitory stigmata such as pigmentations in Peutz-Jeghers syndrome and the phenotypic features of familial adenomatous polyposis aid significantly in syndrome diagnosis. We conclude that the physician's role in advising DNA testing is no small matter, given that a hereditary cancer syndrome's sequelae may be far reaching. Genetic counselors may be extremely helpful to the practicing gastroenterologist, oncologist, or surgeon; when more specialized knowledge is called for, referral can be made to a Medical Geneticist and/or a Medical genetics clinic.
Charis Eng - One of the best experts on this subject based on the ideXlab platform.
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a time study of cancer genetic counselors using a genetic counselor only patient care model versus a traditional combined genetic counselor plus Medical Geneticist care model
Journal of The National Comprehensive Cancer Network, 2013Co-Authors: Brandie Heald, Shanna L Gustafson, Jessica Mester, Patricia Arscott, Katherine Lynch, Jessica Moline, Charis EngAbstract:Analyses of time-based effort have determined that clinical genetic services are labor-intensive, although these data derive primarily from studying Geneticists' efforts in the pediatric model. No studies have investigated the time and patient care activities of cancer genetic counselors (GCs) in traditional clinics with a Medical Geneticist (GC/MD) compared with genetic counselor-only (GCO) appointments. In this study, 6 GCs prospectively tracked time spent in patient care activities in both clinical settings. The authors found that overall, GCs' time spent per patient was lower for GCO versus GC/MD visits. No differences were seen in time spent on results disclosure, but differences were noted in case preparation, face-to-face, and follow-up times. Furthermore, no differences were seen in number of case preparation activities or topics covered during a session. These data suggest that GCO visits result in better use of GCs' time, without a trade-off in number of patient-related activities.
Gerald Bradley Schaefer - One of the best experts on this subject based on the ideXlab platform.
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A novel approach in pediatric telegenetic services: Geneticist, pediatrician and genetic counselor team
Genetics in Medicine, 2017Co-Authors: Shobana Kubendran, Siddharthan Sivamurthy, Gerald Bradley SchaeferAbstract:PurposeOur aim was to improve access to genetic services in an underserved region by developing a collaborative telegenetic service delivery model with a pediatrician, Medical Geneticist, and genetics counselor (GC).MethodsProtocols for the evaluation of common genetic indications were developed. Patients referred with indications suggestive of a syndromic etiology were scheduled to see the Geneticist directly via telegenetics. Other patients were scheduled to see the pediatrician and GC in person before follow-up with the Geneticist if indicated. Patients seen by the Geneticist and/or pediatrician/GC were enumerated and the next available appointment was tracked. Patient satisfaction surveys were conducted.ResultsOf the 265 patients evaluated during the study period, 116 (44%) were evaluated by a pediatrician and GC in person first, after which 82 (71% of those evaluated) required further follow-up with the Geneticist. The next available appointment with a pediatrician and GC never exceeded 6 weeks, while new appointments with a Geneticist ranged from 3 to 9 months. All patients reported high satisfaction with this genetic service model.ConclusionThe pediatrician/GC clinic provides a model of collaborative care that is a Medical home neighbor and exemplifies the integration of genetics into primary care. The telegenetics clinic offers a viable solution to providing competent and convenient access to a Geneticist for patients in chronically underserved regions.
Charlotta Ingvoldstad - One of the best experts on this subject based on the ideXlab platform.
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Complementarity between Medical Geneticists and genetic counsellors: its added value in genetic services in Europe
European Journal of Human Genetics, 2017Co-Authors: Milena Paneque, Clara Serra-juhé, Rebecka Pestoff, Christophe Cordier, João Silva, Ramona Moldovan, Charlotta IngvoldstadAbstract:Clinical genetic services have progressed significantly the last few decades. This has led to the need for non-Medical health-care professionals working as genetic counsellors in Europe and worldwide. However, there is no unified approach to genetic counsellors’ role in health-care services in Europe, as in most countries the profession is still emerging and the educational backgrounds diverge noticeably, within and between countries. This qualitative study aims to describe the potential added value of genetic counsellors in clinical genetics teams and to explore their tasks and responsibilities in different European countries. A total of 143 participants providing genetic counselling in Europe at the time of the survey responded. The results show differences in activities of genetic counsellors, although there is a wide range of roles, which are similar. The ability to establish a quality relationship with consultands was frequently mentioned as one of the strengths of genetic counsellors, as well as a patient-centred approach. It is believed that genetic counsellors add a more holistic approach of psychosocial and familial dimensions of genetic concerns to the multidisciplinary teams. This study provides examples of successful integration of genetic counsellors in teams, as complementariness with Medical Geneticist became clear in several cases. Although the added value of genetic counsellors was manifested, professional recognition of genetic counsellors across Europe is still needed in order to support the quality of patients care and safety of practice.
Henry T Lynch - One of the best experts on this subject based on the ideXlab platform.
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who should be sent for genetic testing in hereditary colorectal cancer syndromes
Journal of Clinical Oncology, 2007Co-Authors: Henry T Lynch, Jane F Lynch, Richard C Boland, Miguel A Rodriguezbigas, Christopher I Amos, Patrick M LynchAbstract:Genetic testing is being adopted increasingly to identify individuals with germline mutations that predispose to hereditary colorectal cancer syndromes. Deciding who to test and for which syndrome is of concern to members of the GI oncology community, molecular Geneticists, and genetic counselors. The purpose of this review is to help provide guidelines for testing, given that the results influence syndrome diagnosis and clinical management. Although family history may determine whether testing is appropriate and may direct testing to the most informative family member, evolving clinicopathologic features can identify individual patients who warrant testing. Thus, although the usual absence of clinical premonitory signs in hereditary nonpolyposis colorectal cancer (or Lynch syndrome) adds difficulty to its diagnosis, use of the Amsterdam Criteria and Bethesda Guidelines can prove helpful. In contrast, premonitory stigmata such as pigmentations in Peutz-Jeghers syndrome and the phenotypic features of familial adenomatous polyposis aid significantly in syndrome diagnosis. We conclude that the physician's role in advising DNA testing is no small matter, given that a hereditary cancer syndrome's sequelae may be far reaching. Genetic counselors may be extremely helpful to the practicing gastroenterologist, oncologist, or surgeon; when more specialized knowledge is called for, referral can be made to a Medical Geneticist and/or a Medical genetics clinic.