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- Omics Technologies for Clinical Diagnosis and Gene Therapy: Medical Applications in Human Genetics
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Genetic Counseling in Inherited Disorders
- Authors: Shumaila Zulfiqar1, Muhammad Tariq2, Naveed Altaf Malik3, Ayaz Khan4, Shafaq Ramzan5, Maria Iqbal6, Iram Anjum7, Shahid Mahmood Baig8
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View Affiliations Hide AffiliationsAffiliations: 1 National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE C, PIEAS), Faisalabad, Pakistan | Department of Biotechnology, Kinnaird College for Women, Lahore Pakistan 2 National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan 3 National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan 4 National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan 5 National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan 6 National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan | Centogene GmbH, Rostock, Germany 7 Department of Biotechnology, Kinnaird College for Women, Lahore Pakistan 8 National Institute for Biotechnology and Genetic Engineering College, Pakistan Institute of Engineering and Applied Sciences (NIBGE-C, PIEAS), Faisalabad, Pakistan
- Source: Omics Technologies for Clinical Diagnosis and Gene Therapy: Medical Applications in Human Genetics , pp 45-59
- Publication Date: October 2022
- Language: English
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. nbsp;
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