Laboratory Genetics

The scope of the course is to provide students with the theoretical background in the field of laboratory genetics and to present applications of this discipline that are relevant throughout human life (in preimplantation testing, prenatally, postnatally, during childhood/adolescence/adult life), also in view of the newly established specialty of “Laboratory Genetics”.
The course will approach basic concepts for the theoretical training of a future laboratory geneticist, including the following subjects: a) popular methodologies and techniques applied in genetic diagnosis and testing, b) the spectrum and the purpose of the various genetic tests currently available, c) the interpretation of results and the means to mine relative information from databases and data repositories, d) good practices of communicating test results to individuals, e) genetic counseling approaches preceding and following genetic testing, f) the current status and common practices in the field of genetic diagnostics in our country and abroad.
Upon successful completion of the course, students are expected to:
Be able to connect a genetic syndrome or inherited disorder (based on the type of chromosomal aberration or molecular genetic variation/mutation) with one or more appropriate laboratory techniques applied in genetic diagnostics, as well as the analytical potential and limitations of each technique,
Know the different categories of genetic tests that are available or suitable in each case, which can be performed by a trained laboratory geneticist, as well as the benefits and limitations of each testing category,
Have become familiar with the genetics nomenclature of human genome variation, as well as the genetic/genomic databases, repositories and computational tools available for mining relevant information,
Have a comprehension of the basic principles of genetic counseling, including taking a family history, constructing a pedigree, developing specific skills when communicating with the individuals/patients/family members involved,
Know the current status and the requirements/conditions of acquiring the specialty of “Laboratory Genetics” in Greece.