An Interview with Navigenics

Recently we had the opportunity to be beta testers for Navigenics, a personal DNA company. Upon receiving the results, we were saddened to learn we weren’t part of a genetically superior class of super humans. But then we dried our eyes and sat down with Navigenics CEO Dietrich Stephan to talk about this new technology.
Medgadget: Thanks for taking some time to speak with us today. Can you give our readers a little summary about the history and mission of Navigenics?
Dietrich: Its a pleasure, thank you for agreeing to be involved in our beta testings. Navigenics was started by myself (a human geneticist) and David Agus (a clinical oncologist) in 2006. We both recognize that all human disease has a genetic component and that the most effective cure is prevention. Take the case of melanoma – by seeing a dermatologist and removing skin lesions before they metastasize we are actually curing melanoma. It is much more difficult to cure melanoma when it has metastasized throughout the body. The same concept is almost universally true for every disease. The major goal of Navigenics is to use risk information embedded within the genome to drive prevention strategies early in life.
The goal of Navigenics is ultimately to provide an individual (and their physician) with a holistic assessment of their genetic predispositions to disease. The vast majority of disease burden in the world is caused by chronic diseases – also called complex genetic diseases – which have a genetic and an environmental component. By learning of predispositions to complex genetic diseases early in life, an individual should be able to focus their prevention efforts on specific environmental toxins that they are more susceptible to, engage in early screening in a focused way, and also achieve a diagnosis earlier and go on therapy earlier which generally results in better clinical outcomes. If we can deliver this information in a broad-based fashion, and motivate individuals to act on the risk information, it is reasonable to assume that we can reduce the burden of chronic disease for some individuals and have a public health impact. We hope that in the next decade we can nucleate a shift from reactive medicine to preventive medicine.
Medgadget: Currently you screen for about 21 diseases, but your promotional video mentions that eventually Navigenics will offer access to “hundreds of different conditions.” How soon do you think Navigenics clients will have access to this broad of a genetic screening exam?
Dietrich: Yes, we are proud to announce the recent addition of 3 new conditions (Atrial Fibrillation, Abdominal Aneurysm, and Lung Cancer) to bring current total to 21 medical conditions. Our number of conditions and the number of SNPs for each condition will keep pace with the quality associations that are published in the public domain. We commit to minimal lag time in updating our members with new medical risk information. We anticipate a continued linear increase in association findings over the next 5 years, with researchers addressing less common disorders, prognosis, and drug response/adverse effects as alternative questions in the coming years.

Medgadget: After reviewing the detailed patient and physician educational packets, we were curious as to why has Navigenics decided not to include clinically significant genes like BRCA for breast cancer?
Dietrich: First of all, I’m pleased that you found the educational packets helpful. We are dedicated to ensuring that our clients are well educated about the clinical significance of their results. However, today we are screening an individual’s genome for common variants that raise risk. DNA sequencing for monogenic disease (such as sequencing for BRCA1/2 mutations) is currently not supported by our company.
Medgadget: Will clients be able to update their genetic sample as your technology improves? Will this be necessary?
Dietrich: Members will obtain updated information regarding the common variants that predispose to common complex genetic disease over time based on the archived genotype file that they provided. At any point in time an individual can terminate membership and their data will be purged from the Navigenics systems. If a member would like to take advantage of various other types of risk factor screening services in the future, a new DNA sample may be necessary.
Medgadget: We think many clients, especially from our reader population, would be interested in having more (unlimited) access to their genetic information. Will clients be able to freely ‘browse’ their genetic code?
Dietrich: That’s an excellent question, thank you for asking. We firmly believe that an individual owns their genome, and is the only person who should ever have access to that information freely. To this end, we will always allow an individual to obtain the complete sequence file from us. There will be an educational component associated with this information transfer that explains that most sources of information regarding correlations between sequences within the genetic code and disease predispositions are incorrect, and that by freely “browsing” their genome, an individual is assured of being misinformed. There is a critical role for expert interpretation of sequence variants and Navigenics prides itself on the quality of its interpretations.
Medgadget: Absolutely. I think many of our readers would be interested to learn a little more about the Affymetric tecnology…Can you give us a brief overview?
Dietrich: Sure thing, its a bit technical but I’m sure your many of your readers will appreciate the details. Our scan, performed by a CLIA-certified laboratory, uses the Affymetrix Genome-Wide Human SNP Array 6.0 (R). It tests for nearly 2 million genetic markers, including more than 900,000 SNPs, or single nucleotide polymorphisms. The arrays sequence specific regions of the genome by taking advantage of the natural tendency for DNA to form a double helix and specifically align with sequences that match itself and are perfectly complementary. The Affymetrix array has short single-strands of DNA that are grown on the surface of the array and match very specific regions of the human genome. The person who is being tested then submits a DNA sample which is fragmented, labeled, and poured onto the array in single-stranded form. The individual’s DNA fragments will hydrogen bond to the exact sequences on the array when there is a perfect match, and allow the sequence of that person to be read out. If there is no match, then there will be no binding and that sequence is not present in the individual’s genome.
Medgadget: What do you feel is the most significant genetic marker you currently screen for?
Dietrich: Of course, depending on an individual clients results, the “most significant” marker will be the one that affects their health the most. However, in objective terms, the single strongest marker we test for (if an individual opts in to receive this information) is the APOE gene related to Alzheimer’s disease. That being said, there are combinations of markers that together have even stronger predictive power – for example the SNPs for age-related macular degeneration.
Medgadget: How does your service compare with that of your competitors? What differentiates Navigenics from the similar services?
Dietrich: We focus only on actionable medical conditions. We present the highest possible caliber of curation of our variants. We are completely transparent with our risk scoring. We guarantee 100% complete data – no missing SNPs. We capture SNPs that are correlated with disease and meet our quality criteria even if they do not reside on the Affymetrix platform using secondary technologies. We present risk in an intuitive fashion. We provide guidance for an individual and their physician so that they may easily understand the information and decide on a prevention plan. We have partnered with the best medical institutions in the world as collaborators, such as the Mayo Clinic and Harvard University.
Medgadget: Its hard to argue with a commitment to quality like that. Its clear that you’ve handpicked the most accurate variations, but if I had a specific interest in emerging research for “disease x” will I ever be able to search my info for those alterations?
Dietrich: We will only provide interpretations for those variants and diseases that we feel are of the highest quality.
Medgadget: Mr. Stephan, thank you very much for allowing to participate in the beta testing of the Navigenics. As clinicians, it will be extremely exciting to see what the future holds for individual genetic analysis and its role in clinical medicine.
Dietrich: Absolutely, it was a pleasure to work with you…and sorry to break the bad news about you not being a member of some super-human race…
More from Navigenics…