Android mobile app for 23andMe data

DIYgenomics released a personal genome Android app update on January 9, 2011 adding three new elements of functionality: the ability to upload and store 23andMe data in the app, multiple views for health risk, drug response, and athletic performance (Figure 1), and a quality ranking system for each SNP.

Figure 1: DIYgenomics Android mobile app view categories.

What is this information?
Selecting any item displays a list of variants or SNPs (places of potential genetic typos), such as for Alzheimer's disease (Figure 2). The locus, gene and variant (SNP) details are shown, along with the normal type (e.g.; no mutation) for 23andMe data (if it exists) in black, an individual's 23andMe data (if loaded) with normal alleles in green and mutations (polymorphisms) in red. Stars (from 1-5) indicate the research quality of the SNP (per the journal ranking of the study, the number of cases and controls, etc.). The colored blocks show which service providers cite the SNP (per color legend), and how many studies they cite.

Figure 2: DIYgenomics health condition Alzheimer's disease.

What does this information mean?
In Health Conditions, a mutation (polymorphism) presented in red generally indicated being at higher potential risk for developing a condition. In Drug Response, a mutation could mean that the normal dose of the drug may not work as well, that there could be side effects, or that there could be a higher change of addiction (for substances). In Athletic Performance, the favorable mutation (green), suggests greater than average athletic capability.

Consumer genomic testing update

In the wake of expected industry-wide regulation of consumer genomic testing, two of the big four testing companies, Navigenics and Pathway Genomics, have pulled their direct-to-consumer offerings in the last few months. Now a doctor must order their tests.

23andMe and deCODEme still have consumer genomic tests available, covering 174 conditions for $429 and 49 conditions for $2,000, respectively (Figure 1). Sooner rather than later could be a good time to sign up for a genomic service, possibly using year-end HSA dollars.

Figure 1. Landscape of direct-to-consumer genomic testing services.

Source: DNA Testing: Living Longer Via Personal Genomics

The potential industry-wide regulation is in regard to two issues, one is whether a physician must order the tests, and two, whether companies should be able to publish their interpretations of the results.

The DIYgenomics website lists two online petitions in support of rights to one's own genetic data:

• Petition for Access to Genetic Information

• Petition for Health Data Rights

Next big VC market: life extension?

Life extension is a growing market and could be the next significant industry targeted by Venture Capitalists and private investment as alternative energy and clean tech eventually wane. The opportunity is made obvious by continuous soaring costs in the world’s largest industry, healthcare, unfunded Medicare type liabilities in every industrialized country, and the demographic aging of populations and below replacement fertility rates together with massive demand and willingness to spend on longevity remedies.

What is the Life Extension Market?
The life extension market is the commercialization of scientific findings from stem cell, immunology, cancer, regenerative medicine and other areas of research. The research linkage between products and research will hopefully become stronger and more standardized. For example, many longevity remedies available today claim scientific support. This research could and should be linked to the products online (23andme is a nice example of research linkage) so consumers and other interested parties can research the products themselves. Bloggers and other independent intermediary watchdogs could synthesize the scientific research and confirm or deny the product claims.

Longevity Docs Needed
It is not clear that traditional physicians will be those prescribing longevity remedies. Specialist longevity docs are needed and will likely arise and market themselves as such, there are a few examples of this today. Most traditional physicians do not currently have expertise in new areas such as longevity and personalized genomics, or the enhancement and prevention vs. cure mindset.

Supplements, Hormones and Enzymes
The first step in life extension treatments is supplements, ranging from a daily multivitamin to the 200 or more supplements per day taken by futurist Ray Kurzweil. The next step is hormone and enzyme replacement therapies, which must generally be overseen by a physician. A variety of treatments have been undertaken per the shifting legal climate, not everyone wanting to be restored to the hormonal levels of their twenties and other reasons.

Longevity Social Network
It would be great to have a health social network (HSN), like PatientsLikeMe and CureTogether for the longevity community. First, people could share the different interventions they are trying. Second, they could upload their ongoing bio-marker test data into an aggregated electronic health record, similar to what Google Health is contemplating, to track and possibly share the impact of the interventions. Third, companies with research and therapies targeting this market could contact an aggregated group to propose field studies, clinical trials and offerings. For example, the 23andme Parkinson’s community has been contacted for such research.

DNA - the real Identity 2.0

Right now is an exciting time with at least eleven advancing technologies that could have an even bigger impact than the Internet in the next fifty years. More than any other area, biotechnology is showing potential for revolutionary change with interesting recent developments in personal genome services, synthetic biology and online health portals.

Personal genome services
Genetically, humans are 99.9% the same. The variations can be referred to as SNPs, single nucleotide polymorphisms. Medical tests have existed to look for specific SNPs and there are now recently launched general tests, $1,000 personal DNA services from 23andme and deCODEme, to scan for up to 1 million known possible SNPs on an individual’s genome checking for 18 diseases such as cancer, diabetes and Parkinson's. Dr. Hsien-Hsien Lei writes an excellent blog tracking advances in DNA.

As with any new technology, reactions are myriad and stratified by age. Middle-aged and older people are far more reticent than younger people to try it. There are many open questions such as are we ready for the information? Will the information be substantive? What use is the information if it is not readily actionable? Given the high similarity of DNA amongst family members, is it most ethically appropriate to discuss the situation with relatives ahead of time? In any case, this is the first time the consumer can be in the driver's seat with their medical information in a powerful new way and

the appetite for personal genetic data may prove insatiable.

Of course it is always prudent and fun to consider the darker uses for new technology and one can imagine Identity Theft 2.0, when someone's DNA is stolen and a newly synthesized mix injected as a replacement, waking up and really not feeling like yourself...or worse, being injected with genes that cause all of your cells to de-differentiate back into stem cells!

Synthetic biology
Until last week, synthetic biologists had only been able to create small DNA segments from scratch using computer synthesizers but then genomic pioneer Craig Venter announced that his lab had synthesized the full genome of the smallest known bacterium. It contains 485 genes and has 582,970 base pairs making it roughly 2% the size of the human genome. So far, it has been difficult to synthesize full genomes because long strands of manufactured DNA have tended to break but this new method utilizes the DNA repair mechanism of yeast to stitch the full genome together. It also includes a watermark to tag the bacteria and a gene so that it won’t infect humans or animals.

There is considerable controversy about the future implications of the technology, somewhat similar to those at the advent of genetically-modified food. The desired endgame of Venter's synthetic biology and this advance is to create synthetic biofuels and organisms that could combat global warming by absorbing carbon emissions and other related high impact solutions to open challenges.

The potential applications could be wide-ranging as biological machines automatically persevere once set to task; clean water, nuclear and hazardous waste cleanup and food generation may also be within their purview, not to mention building repair and cleansing, human and animal grooming and nutrient and drug delivery, potentially rivaling the as yet not arrived nanotech mites in a multiplicity of tasks...

Online health portal
Microsoft launched its online health portal, HealthVault in October 2007, allowing people to centralize and store personal medical records and prescription history, manage records, upload data from medical devices such as blood pressure monitors, and analyze and manage the data. A similar offering from Google is expected sometime in 2008 and Adam Bosworth, formerly leading the Google health effort now how his own startup in the personal health services space, Keas.

These Web 2.0 information portals help people to aggregate and proactively manage their health information and will probably continue to add valuable services, especially mobile-device based; at a glance: news, stock tickers, blood pressure and caloric expenditure...