You Can't Handle the Truth - Do genetic tests need more federal regulation?

I have alleles that suggest that I have a lower than average risk of suffering from rheumatoid arthritis. Other alleles, however, indicate that I am slightly more likely to experience age-related macular degeneration than other people of European ancestry. In addition, if I need to use the blood thinner warfarin in the future, I should let my physician know that I have a version of the CYP2C9 gene, suggesting that I have a greater sensitivity to the drug and probably should start with a low dose. How do I know this genetic information? Because I paid for a direct-to-consumer genotype test from the California start up 23andMe.

I was especially eager to learn whether or not I carried the APOE4 allele that dramatically increases one's risk for Alzheimer's disease. 23andMe does not provide that information in its research reports, but the raw data it supplies can be exported to a wiki-like tool called Promethease for further exploration. Good news for me, Promethease finds that I don't have that deleterious allele. My failing mind must have other causes.

Genotype scanning is in a very preliminary stage of development. "With only a few exceptions, what the genomics companies are doing right now is recreational genomics," Duke University geneticist David Goldstein told the New York Times in April. "The information has little or, in many cases, no clinical relevance." As one goes through the mass of information—allelic variations linked to various studies of their effects in the peer-reviewed literature—it becomes clear that most of the current genotype information provides little guidance about future health.

But does such direct-to-consumer (DTC) genotyping need to be regulated—or banned? Last month, Germany banned direct-to-consumer genetic testing. In 2007, the Genetics and Public Policy Institute found that 24 states limited or restricted direct-to-consumer genetic testing in some ways. Last year, both New York and California heightened their regulatory scrutiny of genotype scans such as those done by 23andMe, deCode, and Navigenics. The good news is the genotype scanning companies obtained licenses from California authorities, and so can now still offer their services to California residents. Several companies are still navigating through New York State's regulatory maze. Last year, the American Medical Association adopted recommendations opposing direct-to-consumer genetic testing, stating that a health care professional should be involved with any genetic testing.

More recently, Genetics and Public Policy Institute director Kathy Hudson organized and sent a letter urging further federal oversight of all advanced diagnostic tests. The letter was signed by representatives of 108 companies, patient advocacy groups, and health non-profits. The goal is to "get personalized medicine right." The letter urges that oversight of diagnostic tests be risk-based and that regulation of those tests be implemented by means of a Food and Drug Administration rulemaking procedure. The letter further advocates the creation of a mandatory registry for all tests which would collect information supporting the analytical and clinical validity of each test.

When asked via email if the regulatory scheme envisioned by the letter would apply to direct-to-consumer genotype scanning and genomics companies, Hudson replied, "The letter is silent on the mode of sale. It is the risk of the test, not the way it is sold, that the group of signatories were focused on. That means that if a test is of high risk, it would be subjected to heightened regulatory scrutiny whether it was offered DTC or not. Current DTC genetic testing services include those that are of no medical significance (low risk) and some that are of substantial medical significance (e.g. cancer)." She then referred me to the GPPC's list of DTC testing services. On the list, tests for genes for hair loss (presumably low risk) are offered along with tests that suggest risks for cancer, heart disease, and Alzheimer's disease (presumably high risk).

The high risk in this case seems to mean two things: how likely is the test to be accurate in what it tells customers, and how likely are customers to find out that they are at higher risk for some dread genetic malady. For example, on the GPPC list one finds that the genotyping companies Navigenics and deCode offer results from a scan for alleles that contribute to the risk of Alzheimer's disease.

Are they accurate in finding such alleles? I asked Princeton University molecular biologist Lee Silver via email how accurate the DTC genotype scanning tests are. "I ran an analysis on personal genome results obtained from 23andMe and DeCODE for me," Silver replied. "There were about 300,000 data points that overlapped between the two tests. There was not a single data point (among 300,000) that was scored positive in one test and negative in the other." Silver is satisfied with accuracy of such screening tests.

But what about the second risk—that customers of DTC genetic testing services will find out that they have a high risk of being susceptible to some horrible disease? "Granted, there's the possibility that you'll be upset with what you find out about yourself, but that's never been a sufficient reason to keep personal information out of a person's hands, when the person is asking to see it," argues Silver. Currently there are few tests of that sort, the APOE4 Alzheimer's allele test being one of them.

So should people be protected against learning such information without the guidance of a knowledgeable physician or genetic counselor? "Actually, I suspect that most consumers of the 23andMe service know more about modern genetics than do most American physicians and most genetic counselors," asserts Silver. I really hope Silver is wrong about that, but agree wholeheartedly when he says, "And I don't see how anyone can be harmed any more by personal genetic information than by some other kind of personal medical information."

There may well be some inaccurate tests and there will certainly be people who mislead customers about the meaning of certain tests. But do we really need additional federal regulation to weed out bad actors? Most evidence suggests that the current tests are fairly accurate, and that customers are not being misled by the results that are reported. All new technologies involve a societal learning process in which some early adopters try it out, explain to others how it works, and find out its flaws—which newer innovators then fix.

In fact, the way the genetic testing industry will evolve is that the companies that tease out and explain useful information about disease risks and pharmaceutical interactions will be the ones to succeed. The bigger risk is that increased federal regulation will slow down beneficial genetic testing innovations.

Regulating this is bogus. Doctors want to force people to come to them for the test and the doctor of course gets a fee for providing counseling and interpreting the results.

It’s sort of like realtors saying you can only list a house with them.

This is scarier to insurance companies than to doctors, for obvious reasons.

I just went through the full battery of blood/urine tests for a life insurance application. Imagine how a genetic screen would impact your insurance rates. Would an insurance company risk a long term care policy on someone with known alleles for Alzheimer's? They already jack up the rates if your A1C, fasting glucose or cholesterol numbers are high.

There is as much room for beneficial results. Being aware of alleles that impact sensitivity to specific drug types can be a life saver. There was a vitamin E study that showed great results in some people and little effect in others. Those with great results were getting a supplement for a genetic defect. The ones with little effect didn't have the genetic defect and functioned normally with or without the supplementation.

This is really true of many tests... Maybe a part of the upcoming “preventive” aspects of health care. Just another ruse to get more money...

Really, just who thinks that several million people coming in for preventive care is going to decrease Health costs? Really, get real! Preventive care is the biggest scam in medical history! Yes, you may save or prolong a few lives but at the cost of several million per saved life by forcing everyone to get preventive care... Yes, it’s a scam!

If government gets their way, they will not only get a continuous supply of money from preventive care, they will gain advantage with the aged since they will not have the opportunity to get alternative care... They win either way...geez..

Well, an ounce of prevention is worth a pound of cure, so I believe it.

Of course, knowing how things work its probably going to be more like a dollar of prevention being worth ninety cents of cure...

“Regulating this is bogus. Doctors want to force people to come to them for the test ...”

Politicians/news media want to exploit this.

How many news shots were made of people wearing masks during the swine/H1N1 flu ‘epidemic’?

They do more damage than benefit with their pandering and effrontery.

Actually, it will become 5 pounds of prevention will entailk 1 pound of cure... In the long run, prevention will be more expensive than not...

Preventive care is a hoax to generate revenue to the Doctors...come on folks... 90% of those that get preventative care will need no care...so who benefits?

Oh well, what am I to say...the government will prevail in the long run anyway... geez...

Well, I guess that those that don’t visit Doctors have a very hard time getting help... Actually, I think that most people don’t go to the Doctor unless they have problems. Theat means one in ten go to the Doctor.

Now if you take those ten and describe their symptoms, you will wind that maybe half that actually need help (subscriptions). So, now take that perception and extrapolate it out to the gestimate of the government and their ability to actually pay for medicine... You will eventually find that they can’t pay or will NOT pay for subscription or what they may consider unnecessary medicine.

This is government provided health care at it’s best. Unfortunately, it will become a problem only when it reflects a cost higher than their suggested minimum.

Of course all of this care is only available as long at the “non health care” recipients are available and paying taxes.

Good luck with that...

Okay,... I admit that I have not seen a Doctor in over 40 years (so sue me)... I am from the old generation in that you only go to the Doctor if you really need to (ie. broken bones, excessive fever, can’t walk), ...so, I would bet that most of you have not seen a Doctor in a lengthy time...If you have, it was a minor problem...

Really, just when is visiting a Doctor become a common practice? Maybe I’m just from the elder generation...

Simple. The cost of a check up is minimal, the cost of major treatment is vast. Certainly more than ten times the cost.

If such a system were instituted, no doubt costs would go up immensely at first (because lots of people would find out they were in the first stages of some horrid condition that needed treatment, who would otherwise be unaware of it). But if it saves them having to have major (and costly) treatment in the long run it would be cost-effective.

I had a co-worker who very suddenly and unexpectedly had a stroke. He survived, but he was hospitalised for a while and his days as a useful productive worker are over. Now, if a check-up had picked up some indication that he was at risk, that might not have happened. We wouldnt have lost a very good engineer and the company wouldnt have had to pay him sick pay for a year.

I’m not naive enough to think that check-ups are a panacea. There are always going to be some things you cannot detect or that slip through the net. But if the net spreads wider, its got to be a good thing.

It becomes a common practice when it is (sic) “free”.

I don’t see the doc much either. I am blessed with generally very good health. My philosophy is:

1) Avoid hospitals at all costs.
2) Never put anything inside your body that isn’t designed to go there.
3) Never take any kind of medicine unless some doctor says it is absolutely essential.
4) Pain is natures warning. Forget this rubbish about “the burn”. If doing something is hurting you, it probably means it isn’t doing you any good. Stop doing it.
5) Moderation in all things (diet, exercise, sleep etc etc) won’t do you much harm.

We are all going to die. The only question is when, and what will be the cause.

Physicians have a hard decision to make when they have a terminal patient. Do they let them continue with their current lifestyle in blissful ignorance, or do they let them know so they can put their affairs in order. In most cases I believe they base their decision on the personality of the patient.

My late wife had Pulmonary Fibrosis which is a terminal disease with progressive scarring of the lung tissue. In our case, I asked her well before the diagnosis if she wanted to know if it was bad news. I let her doctor know our wishes (she wanted to know), but I had to go to another doctor to get a definitive answer when he diagnosed the disease. She made her peace with her maker, and assisted me in my return to the faith.

My personal belief is that if the patient wants to know he should be able to get all the information available. I don't believe that the government or the insurance community should have access to the results of this test.

The bigger risk is that increased federal regulation will slow down beneficial genetic testing innovations.

Since history gives us no examples of shoddy workmanship, misleading marketing, or massive coverups, but instead is filled with examples of the increasing virtues of the marketplace; and since the information conveyed in a genetic test is of no more consequence than, say, that in a fortune cookie, I couldn't agree with you more.

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