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Clinical Geneticists (clinical + geneticist)
Selected AbstractsClinical geneticists in birth defects surveillance and epidemiology research programs: Past, present and future roles,BIRTH DEFECTS RESEARCH, Issue 1 2009Angela E. Lin Abstract Clinical geneticists have contributed to the creation and operation of birth defects surveillance systems and epidemiology research programs. Over the years, many continue to assist the multidisciplinary staff at state-based and regional programs, national networks, and international databases. Currently, all centers participating in the National Birth Defects Prevention Study include a clinical geneticist, which has increased awareness of this role. It is generally assumed that the medical skills and expertise acquired from clinical practice of a clinical geneticist can assist in the tasks of record review, case classification, coding, staff education, peer networking, and research, but these activities have not been formally reviewed. To increase the general knowledge base, this article used the framework of an historical descriptive review focusing on a sample of birth defects surveillance systems presented as illustrative case studies. We examined the contribution of clinical geneticists to a sample of epidemiologic research studies from each program. Looking to the future, we discuss the education of other clinical geneticists, the need to evaluate performance, and the geneticist's participation with other public health colleagues in the shared goal of birth defects prevention. Birth Defects Research (Part A), 2009. © 2008 Wiley-Liss, Inc. [source] Forensic Considerations in Cases of Neurofibromatosis,An OverviewJOURNAL OF FORENSIC SCIENCES, Issue 5 2007Roger W. Byard M.B.B.S. Abstract:, Neurofibromatosis types 1 and 2 are inherited neurocutaneous disorders characterized by a variety of manifestations that involve the circulatory system, the central and peripheral nervous systems, the skin, and the skeleton. Significant reduction in lifespan occurs in both conditions often related to complications of malignancy and hypertension. Individuals with these conditions may also be the subject of medicolegal autopsy investigation if sudden death occurs. Unexpected lethal events may be associated with intracranial neoplasia and hemorrhage or brainstem compression. Vasculopathy with fibrointimal proliferation may result in critical reduction in blood flow within the coronary or cerebral circulations, and aneurysmal dilatation may be associated with rupture and life-threatening hemorrhage. An autopsy approach to potential cases should include review of the history/hospital record, liaison with a clinical geneticist (to include family follow-up), a full external examination with careful documentation of skin lesions and nodules, measurement of the head circumference in children, photography, possible radiologic examination, a standard internal autopsy examination, documentation of the effects of previous surgery and/or chemo/radiotherapy, examination for specific tumors, specific examination and sampling of vasculature (renal, cerebral, and cardiac), formal neuropathologic examination of brain and spinal cord, possible examination of the eyeballs, examination of the gastrointestinal tract, histology to include tumors, vessels, gut, and bone marrow, toxicological testing for anticonvulsants, and sampling of blood and tissue for possible cytogenetic/molecular evaluation if required. [source] Clinical geneticists in birth defects surveillance and epidemiology research programs: Past, present and future roles,BIRTH DEFECTS RESEARCH, Issue 1 2009Angela E. Lin Abstract Clinical geneticists have contributed to the creation and operation of birth defects surveillance systems and epidemiology research programs. Over the years, many continue to assist the multidisciplinary staff at state-based and regional programs, national networks, and international databases. Currently, all centers participating in the National Birth Defects Prevention Study include a clinical geneticist, which has increased awareness of this role. It is generally assumed that the medical skills and expertise acquired from clinical practice of a clinical geneticist can assist in the tasks of record review, case classification, coding, staff education, peer networking, and research, but these activities have not been formally reviewed. To increase the general knowledge base, this article used the framework of an historical descriptive review focusing on a sample of birth defects surveillance systems presented as illustrative case studies. We examined the contribution of clinical geneticists to a sample of epidemiologic research studies from each program. Looking to the future, we discuss the education of other clinical geneticists, the need to evaluate performance, and the geneticist's participation with other public health colleagues in the shared goal of birth defects prevention. Birth Defects Research (Part A), 2009. © 2008 Wiley-Liss, Inc. [source] Physician attitudes towards ventilatory support for spinal muscular atrophy type 1 in AustralasiaJOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 12 2007Nimeshan Geevasinga Background: Without ventilatory support, premature death from respiratory insufficiency is virtually universal in infants with spinal muscular atrophy type 1 (SMA1). With mechanical ventilation, however, long-term survival has been reported from numerous international centres. We aimed to characterize physician attitudes to the various forms of ventilatory support for children with SMA1. Methods: We surveyed neurologists, respiratory physicians, clinical geneticists and intensivists from all major paediatric hospitals in Australia and New Zealand regarding their views on ventilatory management of SMA1. Results: Ninety-two of the 157 (59%) physicians surveyed replied. Respondents included 16 clinical geneticists, 19 intensive care physicians, 28 neurologists and 29 respiratory physicians. Almost half (47%) opposed invasive ventilation of children with SMA1 and respiratory failure precipitated by intercurrent illness. The majority (76%) opposed invasive ventilatory support for chronic respiratory failure in SMA1. In contrast, non-invasive ventilation was felt by 85% to be appropriate for acute respiratory deteriorations, with 49% supporting long-term non-invasive ventilatory support. Most physicians felt that decisions regarding ventilation should be made jointly by parents and doctors, and that hospital Clinical Ethics Committees should be involved in the event of discordant opinion regarding further management. A majority felt that a defined hospital policy would be valuable in guiding management of SMA1. Conclusions: Respiratory support in SMA1 is an important issue with significant ethical, financial and resource management implications. Most physicians in Australian and New Zealand oppose invasive ventilatory support for chronic respiratory failure in SMA1. Non-invasive ventilation is an accepted intervention for acute respiratory decompensation and may have a role in the long-term management of SMA1. Clinical Ethics Committees and institutional policies have a place in guiding physicians and parents in the management of children with SMA1. [source] The role and impact of personal faith and religion among genetic service providers,AMERICAN JOURNAL OF MEDICAL GENETICS, Issue 1 2009Gail Geller Abstract This paper describes the impact of genetic service providers' personal faith and religious values on their experiences interacting with colleagues and patients. We surveyed 480 clinical geneticists (MDs), genetic counselors (GCs), and genetic nurses randomly selected from their professional associations, and then interviewed a sample of survey respondents. Outcomes included religiosity, coping with distress through spiritual beliefs, and personal value conflicts (PVCs). Two hundred fourteen providers completed the survey out of an estimated 348 eligible (61% response rate). Importance attributed to regular attendance at religious services ranged from 39% (not at all important) to 27% (very important). Reliance on religion and spiritual beliefs as a source of comfort ranged from 48% (never) to 33% (sometimes or often). Religiosity varied by discipline with 58% of nurses thinking regular attendance at religious services was moderately or very important as compared to 47% of GCs and 30% of MDs (P,=,0.006). Ten percent of respondents had difficulty reconciling their own faith with being a genetics professional, 14% felt the need to hide their own faith from their colleagues or patients, 7% thought their professional stance was not consistent with their personal values, and 4% felt ostracized by the genetics community because of their personal beliefs. The experience of such PVCs was positively correlated with religiosity (r,=,0.35; P,<,0.0001). GCs were more likely to experience PVCs than MDs or nurses (P,=,0.013). Data from the interviews (N,=,54) support these findings. A significant minority of genetic service providers are religiously observant and rely on their religious values to cope with distress. These individuals often experience difficulty reconciling their religious beliefs with the expectations of their profession, and sharing their beliefs with their colleagues and patients. Efforts should be made to prevent or reduce the secrecy surrounding personal faith and religion among genetics professionals. © 2009 Wiley-Liss, Inc. [source] Reduction in diagnostic and therapeutic interventions by non-invasive determination of fetal sex in early pregnancyPRENATAL DIAGNOSIS, Issue 12 2005Jon A. Hyett Abstract Objective This study reviews our clinical experience of non-invasive techniques for early sex determination. It assesses the effectiveness of these techniques at reducing invasive prenatal testing for X-linked genetic disease or for ambiguous development of the external genitalia. Methods A prospective cohort study of 30 pregnancies was referred to a tertiary unit for prenatal diagnosis. Fetal gender was determined using two non-invasive techniques: analysis of free fetal DNA (ffDNA) in maternal plasma and ultrasound visualisation. The results were compared to fetal gender determined by invasive testing or at birth. Results Fetal gender was accurately determined by analysis of ffDNA at a mean of 10 + 1 (7 + 6 to 14 + 1) weeks' gestation in all cases. Ultrasound assessment was accurate in 20 of the 23 cases where this was attempted at 12 + 0 (10 + 4 to 14 + 1) weeks' gestation, but could not be determined in the remaining 3 cases. Thirteen of 28 (46%) women chose not to have invasive testing on the basis of these findings. Conclusions Both the techniques appear to offer an accurate means of assessing fetal gender, giving parents the option of avoiding invasive testing in the 50% of cases where the fetus would not be affected. The molecular technique is performed at an earlier gestation, but female fetal status is predicted by a negative test result. Ultrasound cannot be applied until 11 weeks' gestation but diagnostic signs are sought in both sexes. Combining these approaches offers a highly sensitive method of non-invasive determination of gender in high-risk pregnancies. Health professionals, clinical geneticists and genetics associates, in particular, who refer women at high risk should be aware of these non-invasive options for prenatal sex determination. Copyright © 2005 John Wiley & Sons, Ltd. [source] Prenatal diagnosis of cavum velum interpositum cysts: significance and outcomePRENATAL DIAGNOSIS, Issue 10 2003Vered H. Eisenberg Abstract Objectives To describe a fetal cavum velum interpositum cyst (CVIC) and to review its clinical significance. Methods Description and follow-up of two cases with prenatal diagnosis of a midline cyst in the fetal brain, at the Chaim Sheba Medical Center. The cases were reviewed and followed-up by a multidisciplinary team that included sonographers, pediatric neurologists, pediatric neurosurgeons, radiologists, and clinical geneticists. Medline search of cases of cysts of the cavum velum interpositum as reported in the English literature. Results Two patients referred for consultation owing to midline cysts were diagnosed with isolated cysts of the cavum velum interpositum without other anomalies. Magnetic resonance imaging (MRI) of the fetal brain did not reveal any additional malformations in either case. Prenatal follow-up showed the cysts to be stable in one case and decreased in size in the other. Postnatal neurodevelopmental outcome to date is normal. (Range of follow-up: 6,24 months.) Eight cases reported in the literature as CVIC resulted in favorable prognosis in all without further intervention. However, one infant required ventriculoperitoneal shunting due to progressive hydrocephalus, but developed normally nonetheless. Conclusion Prenatal diagnosis of cysts of the cavum velum interpositum, which are isolated, single, stable in size, and not associated with other anomalies, is consistent with a favorable postnatal outcome. Copyright © 2003 John Wiley & Sons, Ltd. [source] Clinical geneticists in birth defects surveillance and epidemiology research programs: Past, present and future roles,BIRTH DEFECTS RESEARCH, Issue 1 2009Angela E. Lin Abstract Clinical geneticists have contributed to the creation and operation of birth defects surveillance systems and epidemiology research programs. Over the years, many continue to assist the multidisciplinary staff at state-based and regional programs, national networks, and international databases. Currently, all centers participating in the National Birth Defects Prevention Study include a clinical geneticist, which has increased awareness of this role. It is generally assumed that the medical skills and expertise acquired from clinical practice of a clinical geneticist can assist in the tasks of record review, case classification, coding, staff education, peer networking, and research, but these activities have not been formally reviewed. To increase the general knowledge base, this article used the framework of an historical descriptive review focusing on a sample of birth defects surveillance systems presented as illustrative case studies. We examined the contribution of clinical geneticists to a sample of epidemiologic research studies from each program. Looking to the future, we discuss the education of other clinical geneticists, the need to evaluate performance, and the geneticist's participation with other public health colleagues in the shared goal of birth defects prevention. Birth Defects Research (Part A), 2009. © 2008 Wiley-Liss, Inc. [source] Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosisCHILD: CARE, HEALTH AND DEVELOPMENT, Issue 3 2005L. Pastorino Abstract Background, Diagnosis of Nevoid Basal Cell Carcinoma Syndrome (NBCCS) in infants may pose significant challenges to clinicians owing to its variable expressivity and age-related manifestations. Methods, We report two paediatric cases of NBCCS who presented initially with a non-specific phenotype. Results, In case 1, a diagnosis of NBCCS was possible only after the father was interviewed and found to present with two major criteria for the disease. Subsequent molecular testing confirmed the diagnosis. In case 2, molecular testing of the infant and his father had diagnostic value as neither satisfied fully the current diagnostic criteria for NBCCS. Conclusions, Presence of the few clinical manifestations of NBCCS that appear in infants, typically congenital malformations and skeletal abnormalities, should prompt clinicians to conduct in-person interviews with both parents. In general, paediatricians should refer both parents of infants who are suspected of having an inherited condition to clinical geneticists for expert examination, given the potential unreliability of reported medical history. [source] Genetics professionals' experiences with grief and loss: implications for support and trainingCLINICAL GENETICS, Issue 5 2010G Geller Geller G, Rushton CH, Francomano C, Kolodner K, Bernhardt BA. Genetics professionals' experiences with grief and loss: implications for support and training. This study was designed to determine the degree to which clinical genetics professionals are comfortable with grief and loss, whether discomfort with grief and loss is associated with clinician distress, and what factors predict comfort with grief and loss for the purpose of developing recommendations for support and training. We surveyed 300 clinical geneticists (MDs), genetic counselors (GCs) and genetic nurses randomly selected from their professional associations. Out of 225 eligible clinicians, 172 completed surveys (76% response rate). The vast majority of respondents have clinical interactions with patients and families who are experiencing grief, loss and/or death. However, nearly 20% of respondents reported that they did not feel ,comfortable in the presence of grief and loss'. Twenty-nine percent of respondents disagree or strongly disagree that they ,have been adequately trained to address issues of death, dying, grief/bereavement, and end of life care'. Reported discomfort with grief and loss was strongly correlated with clinician distress. Predictors of comfort with grief and loss included perceived adequacy of training, tolerance for uncertainty, significant personal experiences of loss and deriving meaning from patient care. In conclusion, as follows. A significant minority of clinical genetics professionals experience discomfort in the presence of grief and loss, and feel inadequately prepared for such experiences. Greater attention should be paid to training clinicians in how to deal with grief and loss, and supporting them through such difficult experiences in an effort to reduce their distress. [source] | ||||||||||