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In June 2009, Illumina (NASDAQ:ILMN) announced the launch of its individual genome sequencing service. The service is built around physician-patient consultation, with a physician’s order required to initiate the process. Sequencing is performed in Illumina’s CLIA-certified, CAP-accredited laboratory, following a rigorous process that focuses on physician involvement, patient privacy and data quality. The news was big, but what makes such milestones in the medical fields achievable is individuals’ serious consideration, which is possible only through offering them explanation of the purpose of the newly suggested process. In the case of individual genome sequencing (IGS), individuals should know more about sequencing, its purpose, the results and the impact on their protection and treatment, in case they are diagnosed with a sickness. In the June 2009 announcement of the sequencing service, Illumina was not crystal clear on both the clinical utility of the sequencing and its cost.

Friday, Illumina announced the price of IGS. The details of the clinical utility of the sequencing is mostly left for physicians to elaborate on, as they are the decision makers with regard to IGS. The price decided upon is $19,500 for individual genome sequencing service and $14,500 per genome for groups of five or more participants using the same physician. In other words, to help lower the cost for clients, a physician can order five genome sequencings at a time, thus saving $5000 for each individual. This is not all. For patients who suffer from serious medical conditions for whom IGS could provide potential direct clinical value the cost will be $9,500 per genome. In all cases, the service requires individuals to follow Illumina’s physician-mediated process, which involves pre-service consultation, consent, and a seven-day cooling off period, with final genome data returned to the physician.

There is no doubt that the announced price of IGS service, especially for disease-threatened patients, helps open the door to a new era where the diagnostic procedures will not only diagnose the pathology, but also its origin, i.e., the root-cause of the disease. Also, the new cost, $9,500, will definitely be a factor in making things happen. This price is much lower than the $25,000 suggested in the past. This step will open the door to therapeutics and therapeutic procedures through emerging technologies such as gene editing through antisense and RNA interference (RNAi, microRNAi and gene switching). Serious biotech companies specializing in these disciplines include ISIS, which uses its antisense products for gene-editing, in addition to its microRNA technology developed through Regulus Therapeutics, a company it established through a joint venture with Alnylam (NASDAQ:ALNY), which also specializes in RNA interference technology. Other firms include RXI Pharmaceuticals (OTC:RXII), which also specializes in the same.

We expect the price of individual genome sequencing to further drop through more technological advancements, which have been a major factor in driving the cost down in the first place. The lowering of the price will definitely lead to an increase in the number of individual genome sequences, which will be compared to those of the public databases being populated by academia. The content of the databases will be enriched and the entire field accelerated. That’s what Illumina believes would be the case. Moreover, Illumina intends to create the World Genome Registry, a web-based resource for those who have been sequenced to record the date they were sequenced, at what coverage and with which technology platform. This web site will keep the consumer genetics community updated on the current global numbers and status of whole-genome human sequences being generated. The company intends to create this resource and then turn it over to the community once it is established.

Illumina’s service provides valuable information regarding individual genetic makeup. Although curiosity could be a driven motive for some people to ask for sequencing their genomes, a good motive should be health-driven such as existing illnesses or family history of diseases. Once the sequencing has been completed, geneticist physicians and the patients’ physicians will review the results and help the individual formulate an action plan, which may include ordering more clinical tests to further investigate the health concerns. Once found vulnerable to developing a disease, or sick, patients will have the chance to receive much better protective and preventive measures, or, in case of sicknesses, the treatments that work for, not against, their genetic constructs. That’s why we reiterate that the biotech firms specialized in genomics are the heart of the biotechnology industry. We expect more from the genomics group and we definitely expect much more from Illumina.

Disclosure: No position.

Source: Illumina Takes the Lead in Human Genome Project