Question

7.3 High-throughput (next-generation) sequencing techniques are making ‘community genet- ics’ programmes more widely applicable, because cheap tests can be used to screen popu- lation members for asymptomatic heterozygote carriers of many different disease alleles. What are the potential benefits and costs of this community genetics approach? Give at least 3 benefits ( pros) and 3 costs (cons)

Answer 1

High throughput sequencing uses an advanced method in which it is able to sequence multiple copies of DNA in one time. It is an efficient technologywhich is necessary for studing genomics, epigenomics, and transcriptomics. This technique has several advantages which are as following:-

1. Mainly large data sets are produced with more comprehensive technique in which cellular genomics and transcriptomic genome is studied for several diseases in their initial stage.

2.With this technology the variants and mutations that are the leading factor in causing hereditary cardiac diseases can be identified by exome sequencing

3. High throughput sequencing can be used for transcriptome sequencing, as it gives abundant information about the expression of transcript, its loci, splicing and SNP.

However there are several limitaions of this technolgy which are as following:-

1. As sequencing of all genesmay leads to unneccesary research and information about certain diseases which is not considered safe for the fututre.

2. The chances of errors in creating high sequencing data is high and sometimes the yield obtained is also low.

3. The ethical issues and security of database is also a concern as maintaing data on lage basis is diificult to handle and store.