The impact of molecular genetic testing on counseling of the intellectual disability

• Grant number: 12/23097-7
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: March 01, 2013
• End date: February 28, 2014
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Débora Gusmão Melo
• Grantee: Vanessa de Arruda Santos
• Host Institution: Centro de Ciências Biológicas e da Saúde (CCBS). Universidade Federal de São Carlos (UFSCAR). São Carlos , SP, Brazil

Abstract

Intellectual disability (ID) is the result of intellectual functioning significantly below average, which appears before age 18 and is accompanied by limitations in adaptive functioning. In Brazil, according to the 2010 Census, 1.4% of the population has some degree of ID. From a clinical standpoint, ID is a symptom of over 2,000 different conditions, including many rare genetic diseases. To clarify the ID etiology and to appropriate management of family status, including genetic counseling, patients need to be evaluated by trained health professionals and should have access to necessary diagnostic complementary tests. In recent years, genetic testing performed with molecular biology techniques have been developed with the goal of increasing the rate of etiologic diagnosis in patients with ID. In Brazil, the advances in medical genetics and genetic testing are not yet accessible to the vast majority of the population, since those tests are not routinely available through the Unified Health System (UHS). This project aims to investigate the impact of molecular genetic testing in genetic counseling of families with of people with an ID and analyze the importance of incorporating these tests in UHS. It is a qualitative study, in which 15 parents of patients with ID will be in-depth interviewed according to a pre-set agenda, which will translate into open questions articulated within a complex network, with the object of study. The methodology of thematic content analysis will be used to analyze the interviews. Ultimately, it is intended that this study will be as a subsidy for construction of a line of comprehensive care for patients with genetic diseases and intellectual disabilities in the UHS. (AU)