Process Of Whole-Genome Sequencing Still Challenging, But Heading In Right Direction: Study

In a newly published study it is said several hurdles must be overcome by doctors before they use the technology in evaluating every letter in the DNA of a person to diagnose or detect medical conditions.

It is reported sequencing the whole genome of an individual needs significant amount of manpower for a small payoff.

The finding says the potentially significant variations identification are not always reliable and also the doctors did not agree how to proceed.

One of the authors said though in recent years the cost of sequencing entire genome has come down, but it is usually being used for research purpose.

Dr Euan Ashley said they thought that it is now high time a small pilot study of patients is to be done in clinical settings. He is specialist in medicine and genomics at the Stanford School of Medicine in California.

Ashley recruited twelve unrelated people with the help of his colleagues between November 2011 and March 2012 for the sequencing of the full genomes.

The research is published in the JAMA journal and the goal of it was to see how full genome sequencing may work in the real-world setting like at doctors’ office and in a hospital.

Dr W. Gregory Feero from the Maine Dartmouth Family Medicine Residency in Fairfield, Maine, said there may be very few places now for such clinic facilities, but he feels things are moving right.

Feero is a contributing editor to JAMA and also wrote an editorial accompanying the study.

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