Affordable Precision Medicine: The 23andMe Interlude

In the first year of the Obama administration much attention was focused on affordable health care. Late that year 23andMe came to my attention when it sought out beta testers for its genealogy application the company was adding to its existing DNA tests for consumer health information. My wife and I quickly signed up and got what, in retrospect, became one of the greatest consumer bargains of all time. My primary motivation for testing was for family history information, but I soon became an advocate for enabling better health care by allowing citizens to "buy" reliable genetic information that might help them understand their current and future health prospects.

For the next 4 years consumers were able to acquire for a very reasonable price, information about:

• their "differences in sensitivity or in the likelihood or severity of side effects" when taking 25 categories of drugs

• their health risks -- either elevated, reduced or typical for 122 common disorders; 

• the presence or absence of 53 "specific genetic variants that can cause certain health conditions" in the person tested; and 

• the presence or absence of 53 "specific genetic variants that can cause certain health conditions" being "carried" down to offspring.

We generally didn't articulate these reports from 23andMe as having these 4 components. We thought of them as constituting the health report as opposed to the ancestry report that gave us information about our ethnic origins and offered us a chance to connect with unknown relatives who might help us fill in gaps in our family histories. It was only after the FDA took these reports from the marketplace in November 2013 and eventually allowed one of them to come back in 2015 that we began to realize how much we had lost. Note: 23andMe has recently marketed the original full health reports in other English speaking countries who are not protected by the US FDA.

The FDA never presented concrete evidence of actual harm done to consumers by the 23andMe health reports. The agency never alleged that the lab work was substandard or that the company did not really test what it claimed to test. All that the FDA took exception to was the interpretation of the results without the direct involvement of a health professional. The agency alleged that the average citizen might not be able to understand 23andMe's interpretation of the results. 23andMe was mandated to validate that its explanations could be understood on a case by case basis. 

I wish the FDA would apply the same standards to the drug adds  that inundate us every evening during the national news. We are one of 2 countries that allow this kind of promoting prescription drugs directly to public. The other country is New Zealand. These advertising costs contribute to the inflated cost of these drugs when they are prescribed. But I digress.

Within the last few weeks I have been asked to recommend DNA tests that could give information about the current and future health prospects for mature adults who were beyond child bearing age. Healthspek, a local startup about which I blogged a few weeks ago, offers testing for possible drug sensitivity or in the likelihood of or severity of side effects. However, this test costs as much or more than 23andMe. 

Randy Farr, CEO of Healthspek emailed me last week his comparison of the two:

	23andMe	Healthspek
Price	23andMe raised their price in October to $199  (from $99).  It is likely they are still operating at a loss even with this increase.	Our website, un-channeled, states $499.  We have sold only one test so far at that price.  The website is not generally reached directly.  Our marketing efforts (through partners and direct) provide a link with this url: http://pgt.healthspek.com/discount. Try it.  Then use the discount code CYBERMONDAY.  You’ll see a price of $299.  We have the ability to generate codes with varying discounts and private labeling.  This gives us the ability to build in (or not) a commission for channel partners.  $499 is a high enough ceiling that there is always a meaningful discount. A similar company (www.getcolor.com) offers a genetic test specific to only breast cancer risk for $249.  Other examples exist.
Reporting	23andMe does not do PGT (pharmacogenetic testing). The biggest reason is probably this:  The value in PGT is NOT the underlying raw data,  it is in the translation of that data to decipherable and meaningful results in prescribing drugs).	Part of the cost of our test goes to the production of a patient-specific report that has several components (drug-by-drug metabolizing, gene-by-gene variants, general overview, etc.). In 1st quarter next year this report will be expanded to include traditional (molecular) drug-drug interactions (this is not genetically driven).  While this is not genetic it is equally important in the task at hand-prescribing drugs more precisely. So, our focus of our test – prescribing- goes beyond just raw data and even beyond genetics. This is powerful stuff.
What’s included	Ancestry, carrier markers, some food and wellness.  It also has a social (blood relations) aspect that is cool.	1)      Complete report – drug-by-drug, gene-by-gene. 2)      Telephonic session with certified genetic counselor. 3)      Results deposited in free Lifetime wallet –Healthspek, best PHR on the market (per Apple and Appy Awards). 4)      Simultaneous delivery of results to consumer’s doctor.
General vs. Specialty	23andMe is a good generalist.  But it doesn’t, and can’t, give much help in specific areas that rely on robust research (‘what does this part of the genome mean?’).	Genetic Testing is currently available by many companies in the area of oncology, markers, carrier markers, pharmaco, specific diseases, diet, exercise, etc. Companies that do specific genetic testing and results will always have a place in this market.  This is because knowledge and its display is what matters, not just the raw data.  23andMe can’t possibly be all things to all people.

This is still just one of the 4 areas previously covered by 23andMe reports. The FDA has cleared 23andMe to resume providing most of its "carrier status" reports. These tell one whether you are likely to transmit to your offspring conditions that are not manifested in you or your spouse. So between 23andMe and Healthspek, two of 23andMe original areas of health information are covered. That still doesn't provide feedback on genetic impact that may affect the health of an adult except for drug interactions--information provided by 23andMe prior to November, 2013.

The only way I know of for you to learn that kind of information is to take a 23andMe, Ancestry or Family Finder (FTDNA) test and subsequently process your raw data at a third part site. Remember, the FDA did not challenge the accuracy of the raw data generated and reported by 23andMe. 23andMe continues to provide this to customers. Online sites like Promethease offer data analysis reports of your raw DNA:

Promethease is a literature retrieval system that builds a personal DNA report based on connecting a file of DNA genotypes to the scientific findings cited in SNPedia. 

Biomedical researchers, healthcare practitioners and customers of DNA testing services (such as 23andMe, Ancestry.com, FamilyTreeDNA, etc.) use Promethease to retrieve information published about their DNA variations. Most reports cost $5 and are produced in under 10 minutes.

Breaking News

23andMe announced yesterday a temporary price reduction to $149. One quipster commented that he didn't know if this was a $50 price increase from 23andMe's recent price of $99 or a $50 reduction from the current $199 price. In any case if you are interested in buying a 23andMe kit in the US now is the time to act.

It is hard to predict how the current series of changes will affect the utility of the 23andMe product for serious genetic genealogists. Hopefully that will become clearer in coming weeks.

The more things change the more they stay the same. In late 2009 my wife and I bought 23andMe kits as beta testers for their new genealogy matching service for $149. That was half the regular price at the time. As most of you readers know the price has fluctuated over the last 6 years.

As much as many consumers want even cheaper prices, that may not be realistic if we want companies to be able to stay in business. Antonio Regalado reported in October in the Biomedicine News section of the MIT Technology Review:

we’ve seen several announcements by companies trying to lure consumers to learn about their genomes. Something they all have in common: they’re losing money doing it, at least for now.

As we approach the last year of the Obama administration, are we closer to affordable health care and precision medicine? I hope so.