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How to Prepare for Whole Genome Sequencing

Genomics is a field of technology that changes at an alarmingly rapid rate. It is difficult to find examples of other fields that have undergone change at similar rates, but comparisons could include the evolution of computer technology over the past several decades or the rapid growth of Internet startups in the 90s. Unlike these examples, the growth of genome sequencing technology is limited to a specific technological sector, or at least, it has been until now.

What has changed? 
Sequencing technology is now passing a critical point, at which the cost of whole genome sequencing is actually lower than the cost of running a conventional panel of genetic tests. Although it is difficult to calculate an exact figure for this, it probably lies in the range of $1K-$10K. Illumina's HiSeq platform or IonTorrent's Proton both promise genomic sequencing in this range, as well as Complete Genomics. As we pass this point, genome sequencing moves from the realm of research technology to viable clinical diagnostic test.

The effects of this change can be observed in the growing widespread interest in sequencing technology. While technologies in this area have revolutionized many areas of research over the past decade, their use in clinical settings has profound implications for this industry. Research applications can only provide a limited source of profits. Moving into clinical applications provides access to a much larger amount of capital, both because of the larger market and higher profit margins.

Where will the new opportunities be? 
The clinical introduction of genome sequencing technology will change many aspects of healthcare in the next few years. Genome sequencing could eventually take the place of a standard part of a patient's healthcare record, in much the same way as blood type and allergies to medication are used today. However, we have a lot of ground to cover before we get to this point. For entrepreneurs in this field, this equates to a range of exciting opportunities.

1. Bioinformatics

While interpretation of genomic has been an important area of research, the growing use of this data in clinical fields will generate a great demand for the unambiguous interpretation of results. Physicians want an unambiguous questions such as disease predisposition, and they would like a reputable party to assume the responsibility for making this judgement. Recently, an increasing number of companies have entered the area of genomic data interpretation, many of them small startups such as Genformatic, a Bioinformatics company based in Austin. Larger companies have also begun to focus on providing these services. As this industry evolves, it is likely that more companies may enter this realm, and it will be interesting to observe how things develop in this area.

2. Sample Processing 
While anyone with experience in Molecular Biology possesses the necessary skills to prepare and run libraries, a lot of things can go wrong in this process. Even in pure research applications, sample preparation is an increasingly common service provided by a variety of centers, as well as boutique services, such as Genome Organizer's ChIP-Seq service. It's not that researchers can't perform these tasks, but when they are available for a fee, they see little benefit to running these services for themselves. As genomic sequencing moves into the clinical realm, demand for such services can be expected to increase. There are not many hospitals with the current capability to perform basic sample preparation, and this represents a new area of opportunity in this field.

3. Clinical Services 
One of the greatest areas of uncertainty in this area today is how samples will get from physicians' offices to sequencing centers, and who will inform patients of their results. Though medical school curricula may one day include the interpretation of genomic data, we are far from that point today. Currently, even the administration and interpretation of Genetic tests is generally left to individuals in the field of Genetic Counseling, in collaboration with statisticians and specialists. Though it is likely that a range of other professionals will take over the responsibility of this field in the future, it is likely that in the near future, the growth will take place within this field.

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