Genetic testing is a powerful tool. Two years ago, with the help of my colleagues, it was this tool that helped us identify a new disease. The disease, called Ogden Syndrome, caused the death of a four-month old child named Max. But the rules and regulations for genetic testing in the US, laid down in the CLIA (Clinical Laboratory Improvement Amendments), meant I could not share the results of the family’s genetic tests with them.
Since that time, I have advocated performing all genetic testing involving humans such that results can be returned to research participants. This I believe should extend beyond research, and some private companies, like 23andMe, are helping to do just that.
For as little as US $99, people around the world can send a sample of their saliva to 23andMe to get their DNA sequenced. Their Personal Genome Service (PGS) analyses parts of a person’s genome. This data is then compared with related scientific data and 23andMe’s own database of hundreds of thousands of individuals to spot genetic markers, which the company claims “reports on 240 health condition and traits”.
Earlier this month, however, as I had feared, the US Food and Drug Administration (FDA) has ordered 23andMe to stop marketing their service. In a warning letter, FDA said: “23andMe must immediately discontinue marketing the PGS until such time as it receives FDA marketing authorisation for the device.” By calling PGS “a device”, the FDA fears that people may self-medicate based on results they receive from 23andMe.
Somehow the US and UK governments find it acceptable to store massive amounts of data about their own citizens and that of the rest of the world. They are happy spending billions on such mass surveillance. But if the same people want to spend their own money to advance genomic medicine and possibly improve their own health in the process, they want to stop them.
Continue reading “Stopping 23andMe Will Only Delay the Revolution Medicine Needs”
Filed Under: OP-ED, THCB
Tagged: 23andMe, genomics, Gholson Lyon, Personalized Medicine
Nov 29, 2013
Recently, the US Preventative Services Task Force reiterated its recommendation that women not undergo routine screening for ovarian cancer. This was remarkable, not simply because it was a recommendation against screening, but because the task force was making the recommendation again, and this time even stronger.
The motivation for the recommendation was simple: a review of years’ worth of data indicates that most women are more likely to suffer harm because of false alarms than they are to benefit from early detection. These screenings are a hallmark of population medicine—an archetypal form of medicine that does not attempt to distinguish one individual from another. Moving beyond the ritualistic screening procedures could help reduce the toll of at least $765 billion of wasted health care costs per year.
We already know the common changes in the DNA sequence that identify people who have higher risk of developing ovarian, breast or prostate cancer and most other types of cancer. Consumers can now readily obtain this information via personal genomic companies like 23andMe or Pathway Genomics. But we need to do much more DNA sequencing to find the less common yet even more important variations—those which carry the highest risk of a particular cancer. Such research would be easy to accomplish if it were given top priority and it would likely lead to precision screening. Only a small fraction of individuals would need to have any medical screening. What’s more, it will protect hundreds of thousands of Americans from being unnecessarily harmed each year.
Continue reading “First, Do Net Harm?”
Filed Under: THCB
Tagged: 23andMe, CA-125, DNA, Encyclopedia of DNA Elements group, Eric Topol, Ovarian Cancer, population medicine, PSA, Screening, the future of medicine, USPSTF
Oct 12, 2012
How much can you help yourself by getting your genome sequenced?
A lot, a little, not at all?
Scenario 1 (big help): You discover you have a greatly elevated risk of Disease X. You do various things to reduce that risk that actually reduce it.
Scenario 2: (a little help): You discover you have a greatly elevated risk of Rare Disease X. You do various things to reduce that risk but they don’t help. At least, when Disease X starts, you will be less upset.
Scenario 3 (no help): You discover that you have a greatly elevated risk for a common easily-noticed disease (such as obesity). You already watched your weight, this changes nothing. Scenario 4 (harm): You discover that you have a greatly elevated risk of Scary Disease X (e.g., bipolar disorder). It is depressing news. Later studies show that the gene/disease association was a mistake. (Many gene/disease associations have failed to replicate.)
A recent Wired article tries to answer this question for one person: Raymond McCauley, a bioinformatics scientist who had his genome sequenced four years ago and learned he was “four or five times more likely than most people to develop age-related macular degeneration (AMD)”. The article says “of all the ailments described in the 23andme profile, AMD has one of the strongest genetic associations”. If I found this in my genetic profile, I would want to know the confidence interval of the increased risk. Is it a factor of 4.5 plus or minus 1? Or 4.5 plus or minus 8? This isn’t easy to figure out. In addition to the question of variability, there can easily be bias (= estimate is too high). Let’s say I do 100 gene/disease association studies.
Continue reading “How Useful Is Personal Genomics? A Case Study”
Filed Under: Health 2.0
Tagged: 23andMe, age-related macular degeneration, genetic disease, genome sequencing, genomics, personal genomics, Raymond McCauley
Jul 16, 2012
Reductions in the cost of genetic testing and improvements in what we know about what it tells us produce obvious benefits; if you know you are likely to have some particular medical problem, you may be able to take precautions against it. But they also have at least one potential downside.
The more is known about the chance of bad things happening to us, the less able we will be to insure against them.
A solution to this problem that is sometimes proposed is to permit individuals to have their genes tested but forbid insurance companies to require testing as a condition of insurance or to use the information it produces. The problem with that is adverse selection. If the customer knows his risk and the insurance company doesn’t, high risk and low risk customers are charged the same price, making insurance a good deal for the former and a bad deal for the latter. Insurance companies, realizing that most of those who choose to buy their insurance are bad risks, will charge accordingly, driving more of the low or average risk customers out of the market. In the limiting case, insurance is bought only by high risk customers, at a high risk price. A famous description of the problem is Akerlof’s article “The Market for Lemons.”
If we allow both insurance companies and their customers to make use of genetic information, then both high risk and low risk customers can buy insurance, but at different prices. The risk of having genetic variants that make you more likely to suffer some expensive medical problem is uninsurable, although you can still insure against the risk that, given those genes, the problem will actually appear.
Continue reading “Genetic Testing and Insurance: One Datum”
Filed Under: Pharma, THCB
Tagged: 23andMe, Genetic testing, Health insurance
Feb 3, 2012
NEW YORK – Customer data is a concept that most companies, especially those involved with health and health care, see as a threat rather than an opportunity. Most companies associate consumer data with “privacy,” seeing only expensive disclosure requirements, constraints on their ability to collect information about their customers, and a potential source of legal trouble.
So they consult lawyers and IT risk specialists to consider their options. To protect against being sued, they write lengthy disclosure statements that cover every possible use of consumers’ data. They then hand these statements to their marketing departments, who hide them behind little windows in small type.
In general, these companies see consumer data as something that they can use to target ads or offers, or perhaps that they can sell to third parties, but not as something that consumers themselves might want. In fact, many so-called privacy advocates have the same constricted vision. Most pundits on either side don’t consider that that rather than hiding from consumers or protecting them, companies should be bringing them into the game.
Over time, I’m convinced, successful companies will turn personal data into an asset by giving it back to their customers in an enhanced form – analyzed and visualized into something of value to the individuals themselves. I am not sure exactly how this will happen, but current players will either join this revolution or lose out.
Let’s start with the disclosure statement. Most disclosure statements are not designed to be read; they are designed to be consented to. But some companies actually want their customers to read and understand the statements. They don’t want customers who might sue, and, just in case, they want to be able to prove that the customers did understand the risks. A regretful customer is a vengeful one. (The very best companies want this because they like their customers to understand what they’re getting.)
So the leaders in disclosure statements right now tend to be financial and health-care companies – as well as my favorites, space-travel and extreme-sports vendors. Right now, some clinical trial operators and the “extreme” companies are doing the best job – perhaps in part because some of their customers actually appreciate the element of risk Continue reading “Data to the User!”
Filed Under: Pharma, THCB
Tagged: 23andMe, Data, HIT, Personal Genome Project
Sep 6, 2011