Ethical Issues Raised by the Clinical Implementation of New Diagnostic Tools for Genetic Diseases in Children: Array Comparative Genomic Hybridization (aCGH) as a Case Study Julia S 1,2,3 , Soulier A 1,2 , Leonard S 1,2 , Sanlaville D 4 , Vigouroux A 3 , Keren B 5 , Heron D 5 , Till M 4 , Chassaing N 3,6 , Bouneau L 3 , Bourrouillou G 3 , Edery P 4 , Calvas P 3,6 and Thomsen AC 1,2 1 UMRU 1027, Inserm, Toulouse, France 2 Universite de Toulouse, Universite Paul Sabatier Toulouse 3, UMR 1027, Toulouse, France 3 CHU Toulouse, Hopital Purpan, Service de Genetique Medicale, Toulouse, France 4 Service de cytogenetique constitutionnelle, Hospices Civils de Lyon Inserm U1028, Lyon Neuroscience Research Center, UCBL1, TIGER team, Lyon, F-69000, France 5 Departement de genetique, hopital de la Pitie-Salpetriere, Assistance Publique-Hopitaux de Paris, 47-83, boulevard de l’hopital, 75013 Paris, France 6 Université Paul Sabatier, Equipe EA4555_GR2DE, Toulouse, France Corresponding author: Julia S, Service de Genetique Medicale, Hopital Purpan, TSA 40031-31059, Cedex9, Toulouse, France, Tel: 33(0)561779055; Fax: 33(0)5 61779073; E-mail: julia.s@chu-toulouse.fr Received date: Sep 25, 2015; Accepted date: Nov 12, 2015; Published date: Nov 18, 2015 Copyright: ©2015 Julia S, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Abstract High throughput genetic technologies offer the opportunity to gain precision in the diagnosis of numerous diseases and to better understand their molecular basis. However they bring new practical and ethical challenges, some of which are foreseeable and therefore amenable to the timely adoption of strategies to ensure that they are introduced and used in a just and beneficial manner. One way of foreseeing these challenges is to examine technologies that have already been transferred from research to the clinical setting in order to identify the ethical issues and develop strategies to move forward in an ethical way. One such model for new genetic technologies is Array Comparative Genomic Hybridization (aCGH), which has been gradually adopted in recent years as a standard technique in clinical genetics. CGH challenging current clinical practice regarding the detection and diagnosis of human chromosome abnormalities in intellectual disability (ID) and congenital malformations in children. Experience with aCGH has shown that it delivers an unprecedented volume of information for patients, counsellors, and health care providers but it also raises specific ethical challenges which can serve as signposts for potential issues with future, even more detailed, genetic technologies. These issues are described and illustrated through case histories, and their consequences for the patient-clinician relationship in genetic consultation are discussed. The consequences of employing this technology, as compared to the more traditional genetic diagnostic methods used in cases of intellectual disability are categorised into issues linked to 1) the vulnerable nature of patients who are mostly children, mentally retarded people or “future parents”; 2) the way in which information is controlled at each stage of the process, as a function of its potential relevance to the clinical condition being diagnosed, 3) the information related to conditions other than ID or “incidental findings” that become the rule with high throughput technologies. The issues highlighted by the clinical scenarios discussed here can be expected to occur with even greater frequency in the future as whole exome and whole genome sequencing are introduced. Building on our experience with the transfer and adoption of aCGH into clinical genetics, we have developed a grid of points to be considered when translating such technologies from research to clinic. Keywords: Diagnostic tools; Genetic diseases Ethical Aspects of Array Comparative Genomic Hybridization (aCGH) for Intellectual Disability Diagnosis and Genetic Counselling Introduction Array comparative genomic hybridization (aCGH), a method for genome-wide detection of DNA copy-number variants (CNV), was frst developed in the mid 1990’s as a research tool for the investigation of genomic alterations in tumours [1]. aCGH has been transferred from research to clinic in less than a decade and has become the method of choice to detect and diagnose human chromosomal constitutional abnormalities in clinical genetics departments [2]. aCGH gives a higher resolution than classic karyotyping methods and has demonstrated its scientifc and medical value by uncovering new microdeletion syndromes and doubling the number of pathogenic chromosome imbalances found in symptomatic patients [3,4], used only rarely in the mid 2000’s, aCGH is now considered as a frst line diagnostic tool in intellectual disability, autism and multiple congenital malformation syndromes which, as molecularly highly heterogeneous genetic conditions, requiring sophisticated tools to carry out in depth explorations. Early adopters of CGH in the clinical context have experienced difculties with the interpretation and communication of results as demonstrated by the increasing numbers of clinical and technical reports in the literature [5]. Te complexity of genetics generally and the general lack of familiarity with this specialised subject among patients have rendered genetic counselling discussions lengthy and Clinical Research & Bioethics Julia et al., J Clin Res Bioeth 2015, 6:6 http://dx.doi.org/10.4172/2155-9627.1000245 Research article Open Access Journal J Clin Res Bioeth ISSN:2155-9627 JCRB, an open access journal Volume 6 • Issue 6 • 1000245