Relevance of genetic counselling in genetic testing

Faustina Lalatta, Stefano Goldwurm

Research output: Contribution to journalArticlepeer-review

Abstract

In this review we describe the theoretical framework, goals, and unique approach to patient care that are the basis of medical genetics and genetic counselling. Starting from the fifties, genetic counselling has progressively evolved to cover several areas of medical genetics including newborn screening, carrier detection, prenatal diagnosis, testing for late onset diseases, along with the most traditional role connected with diagnosis and reproductive risk identification. Request on a voluntary basis, equal access, complete disclosure of information, respect of autonomy, non-directivness, confidentiality as well as attention to psychosocial and affective dimensions are general principles universally recognized in the practice of genetic counselling. Therefore it is important to train geneticists and enable them to deal with affective responses ensuring client's understanding and proper management of information. Our Country still lacks a proper network of medical geneticists and has to invest more in creating the necessary resources for the education and enrolment of new specialists ready to handle the increasing present and future demand for counselling.

Original languageEnglish
Pages (from-to)15-24
Number of pages10
JournalMinerva Biotecnologica
Volume12
Issue number1
Publication statusPublished - Mar 2000

Keywords

  • Genetic counselling
  • Genetic screening
  • Hereditary diseases
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Biotechnology
  • Bioengineering
  • Applied Microbiology and Biotechnology

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