In this chapter, we have focused on the journey of sorting genes and the
connotation of genetic counseling started. In a literal sense, we will understand how
genetic counseling could contribute to identifying pathogenicity and penetrance of
genetic mutation/s in high-risk individual/s or populations. Great strides have been
achieved in terms of diagnosis, management, and treatment of various genetic disorders
due to rapid advancements in genetic research. The national Thalassemia Prevention
Program of Cyprus has been one of the earliest and most celebrated successes in
lowering the disease burden and improving life quality and survival rate in patients.
The knowledge regarding gene/s and variant/s is quite instrumental for making
important reproductive decisions and therapeutic interventions for both rare and
common disorders. We also touch upon the associated ethical issues and challenges.
Keywords: Carrier screening, Eugenics, Genetic counseling, Genetic disorders, Genetic testing, Population screening.