Genome sequencing technology has significantly advanced, reducing costs to around $1,000 and enabling its wider adoption in personalized medicine. Key developments include lower costs, enhanced genomic analysis tools, and reliable reference databases to inform healthcare decisions. Despite these advancements, challenges remain in managing genomic 'big data' and ensuring efficient data use in medical contexts.

1. The Technologies That are Key
to Unlocking Genome Analysis
Hannes Smarason
Genome Sequencing |Personalized Medicine | Transforming Health Care

2. • Genome sequencing technology available
today can accurately sequence a whole
genome from an individual’s test sample for a
surprisingly low cost.
• As a result, the adoption of this technology is
rapidly expanding as medical centers around
the world embrace its utility in informing
healthcare decisions—an emerging reality of
personalized medicine.
Technologies Enabling Genome
Progress

3. Three Areas of Progress
• Three important areas of technology progress
have enabled the medical community to reach
this point:
– Lower costs
– New tools
– Reliable reference databases

4. 1. Lower Costs
Lower-Cost Genome Sequencing:
Major technological advances have reduced the cost of
sequencing to nearly $1,000 or less, a critical milestone
to enable the use of sequencing as a mass-market
product for medical care.

5. 2. New Tools
Genomic Analysis Tools:
Since the human genome was first sequenced, an increasingly
robust body of research has showcased the links between
mutations identified in the genome and disease risk. Informatics
tools have been developed by medical centers and genomics
companies to apply to whole-genome samples.
Increasingly, these genome analysis tools will need to adapt to
the steady pace of new genomic linkages to disease and to
operate at a level approaching “big data.”

6. 3. Reliable Referencing
Reference Databases for Human Genomes:
There are a growing number of robust databases of human
genomes, including data for healthy people or those with certain
diseases. When properly analyzed, these databases offer the
potential to provide the medical community with a reference
library against which to compare genetic data.
Large-scale, high-quality databases are an essential element to
cross-reference a patient genome to guide more informed
medical decisions.

7. The “3-Legged Stool”
These three technology domains represent the
“3-legged stool” that will help the world reach
personalized medicine.
The technology is in place, and the
corresponding insights and uses are expanding
every day.
Yet there are challenges to be resolved before
implementing these tools on a universal basis.

8. Managing Genomic “Big Data”
• How will new DNA and supercomputing equipment be
accessed by medical centers, and how will the data be stored?
• What is the most efficient way to compare an individual’s
genome to the massive body of genomic information available
to help inform medical decisions for that patient?
One important part of the solution: we must turn to “big data”
solutions to manage and make use of the enormous amounts of
data produced through sequencing.

9. The progress to date has been amazing. Yet the
opportunities ahead are even more extraordinary to
improve the speed, accuracy, and accessibility of
genomic information to improve human health.