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World J Med Genet. Aug 27, 2013; 3(3): 9-13
Published online Aug 27, 2013. doi: 10.5496/wjmg.v3.i3.9
Genetic counselling in post-genomic era-to be or not to be
Bukvic Nenad, Margaglione Maurizio
Bukvic Nenad, Genetica Medica, Policlinico di Bari, Azienda Ospedaliero-Universitaria, 70124 Bari, Italy
Margaglione Maurizio, Servizio di Genetica Medica Dipartimento di Scienze Biomediche Azienda Ospedaliero-Universitaria di Foggia, 71122 Foggia, Italy
Author contributions: Nenad B prepared the first draft of the manuscript, developed the themes and overall structure; Maurizio M edited, wrote some sections and advised on the content.
Correspondence to: Bukvic Nenad, MD, PhD, Policlinico di Bari, UOC Laboratorio di Genetica Medica, Azienda Ospedaliero Universitaria, Piazza G. Cesare, 11, 70124 Bari, Italy. nenadbukvic@virgilio.it
Telephone: +39-80-5593621 Fax: +39-80-5593618
Received: June 3, 2013
Revised: July 27, 2013
Accepted: August 17, 2013
Published online: August 27, 2013
Abstract

With the surge of genetic tests and technologies, genetic counsellors are faced with the challenge of translating emerging scientific knowledge into practical information for patients, clinicians and public health policy makers. The new tests and technologies also are associated with new psychosocial and ethical considerations. New guidelines are needed for each new discovery of the genomic impact on phenotype, pathology and disease while “old” syndromes and “old” pathology, continue to require attention. In the new post-Human Genome Project era, genetic counsellors will be an integral part of translating genomic discoveries into beneficial impact on human disease, health care, and medical benefits. The needs for genetic counselling should be designed into genomic research at the onset. Genetic counsellors need to handle old while rapidly assimilating new information and the principal challenge is to be up to date and updated.

Keywords: Genetic counseling, Clinical application, Translating emerging scientific knowledge, Direct-to-consumer genetic testing, Clinicians and public health policy makers

Core tip: This paper aims at discussing the aspects and challenges which have to be faced during genetic counselling in the new post-Human Genome Project era with beneficial impact on human disease, health care, and medical benefits. With the surge of genetic tests and technologies, genetic counsellors are faced with the challenge of translating emerging scientific knowledge into practical information for patients, clinicians same as for public health policy makers and the needs for genetic counselling should be designed into genomic research at the onset. Genetic counsellors need to handle old while rapidly assimilating new information.