Latest publications http://www.cangenetest.org/ 2009-01-06T00:32:43-05:00 text/html 2008-11-26T15:50:20-05:00 http://www.cangenetest.org/ http://www.cangenetest.org/url.php?i=1174&f=News A study undertaken in Canada shows that women who test negatively for gene mutations associated with breast cancer may still be at high risk if there is a strong presence of the disease in their family. The author of the study assumed that most of the risk could be explained by [gene] mutations', referring to the mutations in the genes BRCA1 and BCRA2 which are linked to particularly aggressive hereditary breast cancer. However, Dr Narod's study indicates that BCRA gene mutations are only responsible for breast cancer in one in every five families tested. text/html 2008-11-26T16:09:26-05:00 http://www.cangenetest.org/ Ron Zimmern and Carole Wright http://www.cangenetest.org/url.php?i=1184&f=News This analytical paper was submitted as background material for discussion at the expert workshop organised by the Biotechnology Division on “Policy Issues in the Development and Use of Biomarkers in Health” held in Hinxton, United Kingdom on 6-7 October, 2008. This workshop contributes to the fulfillment of Output Result 5 of the 2007-2008 PWB entitled “Analytical and policy reports on the impact of molecular markers and targeted therapies on Biomedicine”. Written by the PHG Foundation, it discusses how to improve knowledge-sharing in order to create a base of evidence for biomarker evaluation. It lays the groundwork by describing models of databases that could be used to collate knowledge about biomarkers. text/html 2008-11-26T16:09:48-05:00 http://www.cangenetest.org/ Dr. Arsia Amir ASLANI, Araxes Associates, France http://www.cangenetest.org/url.php?i=1185&f=News This analytical paper was submitted as background material for discussion at the expert workshop organised by the Biotechnology Division on “Policy Issues in the Development and Use of Biomarkers in Health” held in Hinxton, United Kingdom on 6-7 October 2008. This workshop contributes to the fulfillment of Output Result 5 of the 2007-2008 PWB entitled “Analytical and policy reports on the impact of molecular markers and targeted therapies on Biomedicine”. It describes how industry is reacting to the development of biomarkers and identifies main trends in biomarker discovery and product development as well as promising strategies and business models. text/html 2008-11-26T15:56:13-05:00 http://www.cangenetest.org/ Carol George, Ron Zimmern And Carole Wright, PHG Foundation, United Kingdom http://www.cangenetest.org/url.php?i=1178&f=News This analytical paper, written by the PHG Foundation, was submitted as background material for discussion at the expert workshop organised by the Biotechnology Division on “Policy Issues in the Development and Use of Biomarkers in Health” held in Hinxton, United Kingdom on 6-7 October 2008. It identifies the element necessary for a regulatory environment that is needed to ensure the safe and efficient commercialisation of innovative diagnostic tests based on biomarkers. Its task is to consider the regulatory requirements and mechanisms that will ensure proper test evaluation, application and interpretation on the basis of full evidence of test performance. text/html 2008-11-26T15:59:46-05:00 http://www.cangenetest.org/ Anita Caruso, Cristina Vigna, Gabriella Maggi, Fabio Massimo Sega, Francesco Cognetti and Antonella Savarese http://www.cangenetest.org/url.php?i=1179&f=News Oncogenetic counselling is seldom followed through with, even when individuals are eligible according to the test criteria. The basic variables which influence the decision to undergo the genetic counselling process are: the risk perception, expected benefit or limitations of genetic testing, general psychological distress or cancer-specific distress, lack of trust in one's emotional reactions when faced with negative events, expected level of family support and communications within the family. The aim of this study was to describe the psychosocial variables of an Italian sample that gives up genetic counselling. The study revealed the importance to pay attention to the whole persona and their family system as well as provide information highlighting usefulness of early diagnosis. text/html 2008-11-26T16:01:31-05:00 http://www.cangenetest.org/ Enza Maria Valente, Alessandro Ferraris and Bruno Dallapiccola http://www.cangenetest.org/url.php?i=1180&f=News Over the past few years, advances in nosological classifications and in strategies for molecular testing have substantially improved the diagnosis, genetic counselling, and clinical management of many patients, and have facilitated the possibility of prenatal diagnoses for future pregnancies. However, the increasing availability of genetic tests for paediatric neurological disorders is raising important questions with regard to the appropriateness, choice of protocols, interpretation of results, and ethical and social concerns of these services. This review discusses these topics and how these concerns affect genetic counselling. text/html 2008-11-26T16:04:07-05:00 http://www.cangenetest.org/ Luciana Caenazzo, Pamela Tozzo, Paolo Benciolini, Daniele Rodriguez http://www.cangenetest.org/url.php?i=1181&f=News Paternity testing in Italy is usually performed by private laboratories and universities having direct contacts with the applicants. Recently, the number of paternity tests offered through laboratories websites has increased in Italy and Europe. In this work, the authors will discuss the problems related to information and consent by way of outlining the relevant Italian laws and codes of medical ethics. Further, they will analyze issues regarding the importance of minors' protection when a paternity test is performed via Internet. text/html 2008-11-26T16:06:02-05:00 http://www.cangenetest.org/ José Antonio López-Guerrero, Zaida García-Casado, Antonio Fernández-Serra, and José Rubio-Briones http://www.cangenetest.org/url.php?i=1182&f=News All urologists have faced patients suffering a renal cancer asking for the occurrence of the disease in their offspring and very often the answer to this question has not been well founded from the scientific point of view, and only in few cases a familial segregation tree is performed. Use of molecular genetic testing for early identification of at-risk family members improves diagnostic certainty and would reduce costly screening procedures in at-risk members who have not inherited disease-causing mutations. This review will focus on the molecular bases of familial syndromes associated with small renal masses and the indications of familial studies in at-risk family members. text/html 2008-11-26T16:09:04-05:00 http://www.cangenetest.org/ Nancy L. Keating, Kathryn A. Stoeckert, Meredith M. Regan, Lisa DiGianni and Judy E. Garber http://www.cangenetest.org/url.php?i=1183&f=News The authors have surveyed a US sample of nonacademic physicians who ordered BRCA1/2 testing to understand their implementation of genetic testing and to assess recommendations for surveillance and cancer risk management of women with positive test results. Community-based physicians seem to be successfully incorporating BRCA1/2 testing into their practices. Physicians' recommendations for surveillance of mutation carriers are generally consistent with practice guidelines, yet recommendations for preference-based procedures such as prophylactic mastectomy vary by physician characteristics such as specialty and geographic region. The providers whom patients see for testing may contribute to variations in prophylactic treatments. text/html 2008-11-26T16:14:33-05:00 http://www.cangenetest.org/ http://www.cangenetest.org/url.php?i=1187&f=News This event will be held 3-6 May 2009 in Fremantle, Western Australia. Genes for Health 2009 represents a synergistic collaboration between the Human Genetics Society of Australasia (HGSA), an organisation dedicated to genetic and clinical sciences, and the Genome based Research and Population Health International network (GRaPH-Int), a global enterprise that aims to help transform knowledge and technologies into public policies, programs and services for public health benefits. Genes for Health is GRaPH-Int's inaugural conference. The conference will accommodate a broad range of interests including basic genetic science, clinical genetics and genetic counseling, genetics education, genetic epidemiology and bioinformatics, social science, bioethics and health policy. text/html 2008-11-26T16:16:29-05:00 http://www.cangenetest.org/ http://www.cangenetest.org/url.php?i=1188&f=News This website is a collaborative global initiative that seeks to improve health by bringing together data on human genetic variation and its impact on human health. Specifically, the project seeks to collate and curate existing and emerging data on all specific genetic variations known to affect human health (including rare genetic disorders and forms of common disease), and make it available for clinicians and researchers, facilitating the development and practice of evidence-based genetic medicine.