Abstract:
Advances in genomic technologies have transformed the diagnosis and management of genetic disorders, moving healthcare from a “one-size-fits-all” model to precision medicine tailored to the individual’s genetic makeup. In Pakistan, with its high rates of consanguinity, large family structures, and unique genetic architecture, the potential impact of genomic diagnosis is profound. This talk will explore how next-generation sequencing and bioinformatic tools are reshaping clinical practice, enabling earlier and more accurate detection of genetic conditions, including rare epilepsies and metabolic disorders. We will discuss the opportunities and challenges in integrating genomic medicine into Pakistan’s healthcare system- ranging from infrastructure and training gaps to ethical, cultural, and cost considerations, through some examples from our research work. Looking beyond diagnosis, we will consider how genetic insights can inform targeted therapies, preventative strategies, and public health policies, paving the way for a sustainable, equitable precision medicine framework in lowand middle-income countries.
Page(s):
44-44
DOI:
DOI not available
Published:
Journal: 4th International Conference of Sciences “Revamped Scientific Outlook of 21st Century, 2025” , November 12,2025, Volume: 1, Issue: 1, Year: 2025
Keywords:
Pakistan
,
Population
,
Risk
,
affordable
,
genetic testing