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Julia Karow at In Sequence reports that Navigenics has plans to offer targeted and whole genome sequencing in addition to the SNP genotyping services they have previously announced.
Navigenics is one of a handful of startup companies that plan to offer a “personalized genomics” (PG) service, in which they will sequence or genotype regions of a customer’s genome. The goal is ultimately to use this information to positively influence the health of the customer, through either lifestyle changes or customized medications.
The plan to offer targeted sequencing is not surprising, as this technological step is certainly part of the five year plan of any serious PG company.
The relatively low cost of high throughput SNP chips (such as those from from Illumina or Affymetrix) means that it is relatively inexpensive to determine >500k SNP genotypes. This SNP data can be compared against public databases which contain disease association data to estimate a patient’s risk for certain diseases, however will be sorely lacking in some of the more interesting structural genomic information (CNVs, rearrangements, indels, etc).
We’ve already written here on SEQanswers about methods for specifically enriching for regions of the genome to enable targeted next generation sequencing. While there is controversy in the community regarding the value of exon sequencing, an approach which sequences all human exons seems to offers the most bang for one's buck when it comes to potential impactful variants. Sure you're missing a lot of inter/intra-genic information, but the having the entire coding sequence is extremely powerful. I wouldn't be surprised to hear that this is the first offering Navigenics plans to make.
It will be interesting to see the potential market develop for these services, and the price/technology point that drives serious increases in customers.
Navigenics is one of a handful of startup companies that plan to offer a “personalized genomics” (PG) service, in which they will sequence or genotype regions of a customer’s genome. The goal is ultimately to use this information to positively influence the health of the customer, through either lifestyle changes or customized medications.
The plan to offer targeted sequencing is not surprising, as this technological step is certainly part of the five year plan of any serious PG company.
The relatively low cost of high throughput SNP chips (such as those from from Illumina or Affymetrix) means that it is relatively inexpensive to determine >500k SNP genotypes. This SNP data can be compared against public databases which contain disease association data to estimate a patient’s risk for certain diseases, however will be sorely lacking in some of the more interesting structural genomic information (CNVs, rearrangements, indels, etc).
We’ve already written here on SEQanswers about methods for specifically enriching for regions of the genome to enable targeted next generation sequencing. While there is controversy in the community regarding the value of exon sequencing, an approach which sequences all human exons seems to offers the most bang for one's buck when it comes to potential impactful variants. Sure you're missing a lot of inter/intra-genic information, but the having the entire coding sequence is extremely powerful. I wouldn't be surprised to hear that this is the first offering Navigenics plans to make.
It will be interesting to see the potential market develop for these services, and the price/technology point that drives serious increases in customers.