ABSTRACT
OBJECTIVE: Patients' psychological reactions to multigene cancer panel testing might differ compared with the single-gene testing reactions because of the complexity and uncertainty associated with the different possible results. Understanding patients' preferences and psychological impact of multigene panel testing is important to adapt the genetic counselling model. METHODS: One hundred eighty-seven unrelated patients with clinical suspicion of hereditary cancer undergoing a 25-gene panel test completed questionnaires after pretest genetic counselling and at 1 week, 3 months, and 12 months after results to elicit their preferences regarding results disclosure and to measure their cancer worry and testing-specific distress and uncertainty. RESULTS: A pathogenic variant was identified in 38 patients (34 high penetrance and 4 moderate penetrance variants), and 54 patients had at least one variant of uncertain significance. Overall, cancer panel testing was not associated with an increase in cancer worry after results disclosure (P value = .87). Twelve months after results, carriers of a moderate penetrance variant had higher distress and uncertainty scores compared with carriers of high penetrance variants. Cancer worry prior to genetic testing predicted genetic testing specific distress after results, especially at long term (P value <.001). Most of the patients reported the wish to know all genetic results. CONCLUSIONS: Our results suggest that patients can psychologically cope with cancer panel testing, but distress and uncertainty observed in carriers of moderate penetrance cancer variants in this cohort warrant further research.
Subject(s)
Genetic Counseling/psychology , Genetic Predisposition to Disease/psychology , Genetic Testing/methods , Neoplasms/psychology , Adult , Anxiety/psychology , Cohort Studies , Female , Genetic Predisposition to Disease/prevention & control , Humans , Male , Middle Aged , Neoplasms/genetics , Neoplasms/prevention & control , SpainABSTRACT
INTRODUCTION: Epilepsy is one of the major neurological disorders characterized by spontaneous and recurrent seizures. Traditionally temporal lobe epilepsy (TLE) was considered as a multifactorial syndrome due to environmental factors. Advances in molecular biology have facilitated the detection of many genetic alterations that may have a pathogenic effect in ELT. Recently, many authors show evidence about the existence of genetic components as the source of some types of ELT. DEVELOPMENT: This review aims to provide an overview of mutations and polymorphisms associated with temporal lobe epilepsy, which have been described in scientific literature and its contribution to the pathophysiology of epileptogenesis. We have reviewed the following genes; LGI1, PDYN (prodynorphin), interleucine 1beta, PRPN (prion protein), ApoE (apolipoprotein E), GABBR1, SCN1A, SCN1B, KCNA1, KCND2. CONCLUSION: The ELT is a complex disease and its development could depend on either genetics factors or other factors. Functional studies are necessary in order to correlate its molecular basis and their development.
Subject(s)
Epilepsy, Temporal Lobe/genetics , HumansABSTRACT
OBJECTIVE: To know the opinion of primary care physicians about the criteria that they use in the request of the laboratories tests of hyperlipidemia and to confirm the above-mentioned opinion with the parameters edited in some guides of clinical practice published on hyperlipidemia. DESIGN: Transverse and descriptive study. Accomplishment of 2 questionnaires, one by internal post and another one through personal or telephonic interview. Comparison of most important guides of clinical practice. EMPLACEMENT: Primary care of an area of Madrid. PARTICIPANTS: In the survey directed to all the 199 primary care physicians, 116 valid answers were obtained. In the survey directed to all 20 coordinators of the centers of primary care, 16 valid answers were obtained. MEASUREMENTS: The frequency, the percentage and the confidence interval. RESULT: 109 (94%) of the primary care physicians request laboratories tests in the goal to exclude secondary reasons of hyperlipidemia. The LDL-cholesterol is considered to be a suitable test for the follow-up of the hyperlipidemia by 108 (93.0%) primary care physicians. According to the opinion of the coordinators, the year of edition and/or review of the existing guide in the center changes between 1992-2000. CONCLUSIONS: As strategy of improvement of the clinical practice it is necessary to realize and support an updated guide of clinical practice, where the suitable tests are defined to look for the etiología of hyperlipidemia, the determinations that must be requested for the initial control of the treatment and with which periodicity they are requested.