Wednesday, April 16, 2008

Navigenics Enters Personal Genomics Game ... Meanwhile: "What's a SNP?"

On April 8th, Navigenics announced it will provide genomic testing services to the general public, yet, creating additional competition among other genetic health startup companies such as deCODEme and 23andMe. These businesses are drawing attention by allowing ordinary people to see their genetic makeup and by providing services to help understand their risk for common conditions.

For an initial fee of $2500, Navigenics’ personalized medicine package includes genotyping for 18 listed medical conditions such as Alzheimer’s disease, glaucoma, colon cancer, lupus, breast cancer, prostate cancer, and Crohn’s disease. Saliva, instead of blood, is collected for the genome scan as a less invasive and less hazardous approach. Within three weeks, Navigenics promises to deliver your risk assessment report electronically and provides genetic counseling over the telephone to educate customers on their genetic predispositions and to encourage them to take preventive measures.

The personal genomics industry is growing and potential consumers have choices. For example, 23andMe lets customers see their entire genetic profile of more than 500,000 single nucleotide polymorphisms (SNPs) while Navigenics limits customers to 18 selected conditions, even though it uses a 1 million SNP chip. On the other hand, Navigenics promises the customer access to future technology for an annual fee of $250. Customers’ spit samples are frozen, stored, and re-tested as new associations with SNPs are found.

Hoping to set industry standards, Navigenics proposed 10 criteria for performance, quality, and service for personal genomic services:

1. Validity
2. Accuracy and quality
3. Clinical relevance
4. Actionability
5. Access to genetic counseling
6. Security and Privacy
7. Ownership of genetic information
8. Physician education and engagement
9. Transparency
10. Measurement

With the evolution of personalized medicine and genetic profiling, consumers have more information in their hands. New research initiatives are on the move to understand how consumers act upon this information (i.e. ignore health risks or needlessly worry about slight risks). Navigenics has plans to support future health outcome studies and has recently joined forces with the Mayo Clinic to measure the impact genetic information has on behaviors.

It will be interesting to see whether The Personalized Medicine Coalition adopts or modifies Navigenics standards. Also interesting will be the response from the medical community to risk assessment reports generated by personal genomic businesses such as Navigenics, 23andMe, and deCODEme.

What could be better than knowing your own DNA? This genomic revolution sounds almost too good to be true. Dr. Eric Topol, cardiologist at the Scripps Clinic (ironically a collaborator with Navigenics), listed his comments (December 2007) in an editorial for The Wall Street Journal. Topol presumes it is too soon to tell whether having your genome scanned can be good for your health because there are so many unidentified genes associated with disease risk. He also wonders, as do I, how personal genomics will impact the medical community. His example . . . "When a consumer arrives in his or her doctor’s office to get help in interpreting the genomic data, the doctor is likely to respond: What’s a SNP?" – Katie Carr

[Katie Carr is a graduate student in public health at Indiana University-Purdue University, Indianapolis (IUPUI). In addition to taking classes in bioethics at the IU Center for Bioethics, Katie is working with us to develop an ethical plan for pandemic influenza response.]


Steve Murphy MD said...

What agreat post. I think this all will come to a screaching halt shortly. I think they are practicing medicine.....nothing short of that. So...medicine performed by non-physicians....a little tough to swallow. But they have some good tests that should be used by CLINICIANS.....I do think that patients can have this info...but if you saw the misconception issues on Blaine's blog you too will see the problem with this. I think we will soon see the solutions. I certainly have been working on them

Katie Carr said...

Thanks Steve. I agree….corporate genomics practicing medicine and then referring patients to the practice of medicine. By solutions, do you mean Helix Health? I’m excited to see personalized medicine’s role in the future of medicine. Genetic technology will develop and individuals should have greater access to genetic testing and to understanding their own health through a team of trained clinicians. Again, enter your Helix Health and others… Which leads to another thought - how can medical schools better prepare students for personalized medicine and genomics? - Kate

Steve Murphy MD said...

Start teaching genetics.....
Seriously. A study in 2006 found that as medical students approached graduation, the precentage correct on a genetics knowledge test dropped. In other words, the 4th year soon to be doctor students did much worse than the 1st year (4 years to forget genetics) medical students did.
We need clinicians teaching genetics, not PhD's. No offense to my PhD bretheren, but the main complaint students have is being taught a clinical field by non-clinicians.