Affordable Human Genome Sequencing to Spawn New Facet of Clinical Lab Industry
Posted Oct 05 2009 10:02pm
I am sure that most of the readers of this blog have already heard this news before but the cost of human genome sequencing continues to decrease. This was the focus of a recent article in the New York Times (see: Cost of Decoding a Genome Is Lowered ). The consequences of this trend for clinical lab professionals will be significant. One of them will be that a whole new information management segment of the clinical lab industry will be spawned. Here is an excerpt from the article about this topic:
[Stanford University professor Stephen] Quake calculates that the most recently sequenced human genome cost $250,000 to decode, and that his machine brings the cost to less than a fifth of that....He said the much-discussed goal of the $1,000 genome could be attained in two or three years. That is the cost, experts have long predicted, at which genome sequencing could start to become a routine part of medical practice. The impediment to the medical use of genomes, however, is fast becoming not the technology but the ability to understand and interpret what the technology reveals. The quest to uncover the genetic roots of complex diseases like cancer, diabetes or Alzheimer’s, a primary goal of the Human Genome Project, recently stalled. Most of those diseases turn out to be caused not by a few common variants, as many biologists expected, but by an unmanageable number of rare variants, offering for the most part no clear target for drugs or diagnosis. That genetic complexity has thrown into disarray many plans for personalized medicine, because for complex diseases and traits there is no obvious way to predict the status of a whole person from his DNA sequence. There is much better knowledge about the genetic basis of many simple diseases — those caused by a single genetic variant — but most of those diseases are rare and account for a small fraction of the overall burden of disease.
I would like to use this note to launch a new discussion about how affordable human genome sequencing will affect lab professionals in the future. However and as noted in the article, we simply do not yet have an adequate understanding of the genetic basis for complex diseases and traits. Simply put, we will have access to genomic data from a wide swath of patients/consumers before we have the capacity to interpret most of this information in a broad and meaningful way. Inexpensive genomic testing will be a boon for bench investigators but perhaps frustrating for clinicians, patients, and consumers. In the interim, we will need some sort of secure "clinical" repository for the growing body of genomic data that can be continuously queried as new medical knowledge about the predisposition to disease, pre-disease, and overt disease is acquired (see: Predisposition to Disease and Pre-Disease on the Health Continuum; Wellness, Preventive Medicine, and the Classic Disease Model; Genomic Testing, Pre-Symptomatic Disease, and Health Insurance ).
I believe that some patients/consumers may opt to have their local hospital-based clinical labs serve as a repository for their personal and family genomic information. These genomic storage requirements will inevitably create a series of of technical, clinical, and political challenges. One of them certainly will be the need for LISs capable of storing such information in an organized way. A second major challenge will be the need to periodically scan the data and inform the patients, and their physicians, about any new research with clinical relevance for them. The only thing that I am sure about at this time is that these activities will be a new line of business for the clinical laboratories and one that will create a closer relationship between the labs and patients/consumers. It's not too early to begin a discussion about the implications of this new facet of the clinical lab industry.
I am sure that most of the readers of this blog have already heard this news before but the cost of human genome sequencing continues to decrease. This was the focus of a recent article in the New York Times (see: Cost of Decoding a Genome Is Lowered ). The consequences of this trend for clinical lab professionals will be significant. One of them will be that a whole new information management segment of the clinical lab industry will be spawned. Here is an excerpt from the article about this topic:
I would like to use this note to launch a new discussion about how affordable human genome sequencing will affect lab professionals in the future. However and as noted in the article, we simply do not yet have an adequate understanding of the genetic basis for complex diseases and traits. Simply put, we will have access to genomic data from a wide swath of patients/consumers before we have the capacity to interpret most of this information in a broad and meaningful way. Inexpensive genomic testing will be a boon for bench investigators but perhaps frustrating for clinicians, patients, and consumers. In the interim, we will need some sort of secure "clinical" repository for the growing body of genomic data that can be continuously queried as new medical knowledge about the predisposition to disease, pre-disease, and overt disease is acquired (see: Predisposition to Disease and Pre-Disease on the Health Continuum; Wellness, Preventive Medicine, and the Classic Disease Model; Genomic Testing, Pre-Symptomatic Disease, and Health Insurance ).
I believe that some patients/consumers may opt to have their local hospital-based clinical labs serve as a repository for their personal and family genomic information. These genomic storage requirements will inevitably create a series of of technical, clinical, and political challenges. One of them certainly will be the need for LISs capable of storing such information in an organized way. A second major challenge will be the need to periodically scan the data and inform the patients, and their physicians, about any new research with clinical relevance for them. The only thing that I am sure about at this time is that these activities will be a new line of business for the clinical laboratories and one that will create a closer relationship between the labs and patients/consumers. It's not too early to begin a discussion about the implications of this new facet of the clinical lab industry.