Omics Technologies for Clinical Diagnosis and Gene Therapy: Medical Applications in Human Genetics

Genetic Counseling in Inherited Disorders

Author(s): Shumaila Zulfiqar, Muhammad Tariq*, Naveed Altaf Malik, Ayaz Khan, Shafaq Ramzan, Maria Iqbal, Iram Anjum and Shahid Mahmood Baig

Pp: 45-59 (15)

DOI: 10.2174/9789815079517122010007

* (Excluding Mailing and Handling)


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.

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