Family Matters

Why Cheaper Genetic Testing Could Cost Us a Fortune

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Miller Mobley / Redux for TIME

Dana Nieder turned to friends and strangers to help pay for her daughter Maya's exome sequencing

Dana Nieder was at a loss. Doctors had been trying to figure out what was wrong with her daughter Maya since she was 7 months old. Now 4 1/2, Maya didn’t learn to walk until long after her second birthday and still can say only a few words. After exhausting other possibilities, Nieder decided to have part of Maya’s genome sequenced in a test so new that health insurers have balked at paying for it. “It seemed to be our only chance to find a genetic answer,” says Nieder, a former middle school science teacher from New York City.

Unlocking the secrets of human DNA is one of the most promising avenues of medical research. (Read TIME’s complete series on genetic testing and families.) But along with a host of scientific and ethical issues, genome sequencing raises some tough economic questions at a time when U.S. health care costs are already spiraling. How much is this going to cost, and who’s going to pay?

The final chapter in a five-part series exploring the promise and pitfalls of sequencing children’s genomes

Whole-genome sequencing (WGS) is already relatively inexpensive — labs can analyze a person’s entire genetic code for under $10,000 — and the cost is dropping fast. But for some patients, this initial DNA report is the beginning, not the end, of their medical odyssey. And whether those journeys will increase the nation’s health costs isn’t clear.

In an ideal scenario, genetic analysis could save money by catching diseases early, offering targeted treatments and underscoring the most effective preventive measures. In the worst case, it could deluge an already swamped health care system, as patients with ambiguous results begin to seek frequent screenings — and potentially unnecessary procedures — for diseases they might never develop. Princeton health care economist Uwe Reinhardt sees a future that skews toward the latter: “If someone held a gun to my head, I would have to say it will cost a lot more and it will create an enormous amount of anxiety. A certain amount of ignorance is really bliss.”

More than half of the 1,254 doctors surveyed this year by UnitedHealthcare said they think new genetic tests will increase overall health care spending; just 1 in 5 think the tests will lower costs. One of the country’s largest insurers, UnitedHealthcare estimates the U.S. spent more than $5 billion on genetic testing in 2010. By 2021, the company says, total spending on genetic testing could rise to $25 billion, a figure based in part on its prediction that WGS will become widely available soon.

For now, scanning a patient’s entire genome is cutting-edge technology, and health insurers rarely cover it. The reason, industry officials say, isn’t the cost; they note that insurers already cover hundreds of expensive tests targeting specific genes. Rather, the insurers say they’re cautious because the technology is new and unproved; they also share the CDC’s concern that geneticists don’t yet know how to interpret all the results.

Slight differences, or variants, in people’s genetic code are what make us unique. Some of these differences are known to increase the risk of disease; others don’t seem to matter. “Everyone has in the neighborhood of 3 million variants,” says Dr. Joanne Armstrong, senior medical director of Aetna. “Of those variants, there’s a significant chunk where we’re not sure what they mean. So it’s kind of noise vs. signal.”

Consider full-body MRIs, for example, which have been shown to generate false positives that lead to unnecessary tests. The same would be true if sequencing is used indiscriminately, says Dr. Jim Evans, a professor of genetics and medicine at the University of North Carolina at Chapel Hill and the editor-in-chief of Genetics in Medicine. “Ninety-eight percent of us have very boring genomes,” he says. “Most diseases have a genetic component, but your genomic information provides precious little in the way of tangible guidance for you to live a healthy life. You don’t need to sequence someone’s genome to tell them they should be exercising and eating right.”

(MORE: A photo tour inside a genetic-testing lab)

Yet studies indicate that most people want tests that can predict their risk of future disease, even if learning about those risks offers no leg up on treatment. A study published in 2010 in Health Economics found that up to 88% of people said they would like to take a test that could foretell their odds of developing arthritis, Alzheimer’s and other diseases.

What those survey respondents probably didn’t know is that getting those test results could make it hard for them to buy life insurance, disability insurance or long-term-care insurance. In 2008, Congress passed the Genetic Information Nondiscrimination Act (GINA), which prohibits health insurers or employers from genetic discrimination. But neither that law nor the Affordable Health Care Act that came after it applies to other kinds of insurance. “I have a patient who is at 50% risk of a certain disease, but he does not want the test because he fears being unable to get disability insurance,” says Evans.

As sequencing moves toward the mainstream, GINA may need to be broadened to include other types of insurance. That won’t be easy. Congresswoman Louise Slaughter, an 83-year-old microbiologist from New York who sponsored the legislation, describes how opposition from insurance companies led her to focus on protecting people’s jobs and their health insurance instead of casting a wider net. “One of the most important things in the bill is that you can’t be denied coverage for pre-existing conditions,” says Slaughter, whose office has been discussing whether it’s time to start making noise about expanding GINA. “There’s nothing more pre-existing than genes.”

Meanwhile, experts are looking for ways WGS can make health care more efficient. “Most of the people who talk about cost implications talk about how much it costs to do the test,” says Dr. Katrina Armstrong, a professor at the University of Pennsylvania’s Perelman School of Medicine. “But an enormous amount of how this will impact health care is how it will influence who should get other expensive treatments.”  In an essay published in the Journal of the American Medical Association in March, Armstrong noted that tests of 21 genes could identify which breast-cancer patients were unlikely to benefit from a particular chemotherapy — knowledge that could save the health care system $400 million each year. “If genomics can help us understand who will get the most benefit and who will get little or no benefit from an intervention, it will take us a long way towards improving patient outcomes and saving money,” says Armstrong.

Another area in which WGS might end up saving money is in assessing the 50,000 babies born in the U.S. each year with hard-to-diagnose disorders. It often takes three to five years to determine what’s causing the baffling symptoms in these children — children like Maya Nieder.

(MORE: A Mother’s Story: The Trouble with My Daughter’s DNA)

Maya’s mom turned to the Rare Genomics Institute (RGI) — essentially Kickstarter for mystery illnesses — which helped her raise money online to sequence Maya’s exome, the sliver of her genome that contains the genes that do most of her cells’ work. Six hours after a fundraising profile was posted with a photo of Maya and a description of the “silly, cuddly girl” who “loves to read books, paint and play with her dog,” a combination of friends, relatives and strangers had raised the $2,500 needed — a subsidized rate Yale had agreed to charge RGI families.

In June, researchers determined that Maya appears to have a unique mutation; no other person in the world has been reported to have it. For her mother, who was six months pregnant when she got Maya’s sequencing results, finding out that neither she nor her husband had passed a defective gene to their daughter was a relief. It boded well for Maya’s brother, who arrived at the end of September and is acting as all newborns do: hungry and sleepy.

Researchers are now doing more work to confirm that they’ve zeroed in on the gene responsible for Maya’s developmental delays. Assuming they’re right, finding an answer is oddly bittersweet for the Nieders. Maya’s doctors think they know which gene is misfiring, but they have yet to find an effective treatment for it.

Still, it’s hard to place a price tag on the emotional benefits of knowing what’s wrong. For that, Dana Nieder is grateful to the Internet — to the strangers who donated $10 and the relatives who helped fund Maya’s sequencing. “When I talk to the insurance company now, I’m not just a mom saying she has global delays. When we go to see a new doctor, it means I don’t have to say she has this genetic thing but we don’t know what it is,” says Nieder. “There is some sort of security in having something to point to and say, This is it.”

This is the final chapter in a five-part series exploring the promise and pitfalls of sequencing children’s genomes. Read the full series.

25 comments
Pharmacologist
Pharmacologist

At a fundamental level predictive biomarkers (used to predict response to treatment), such as the 23 gene test mentioned in the article, have a tremendous potential to save the healthcare system money by directing people toward treatments to which they will respond.  It is prognostic biomarkers, which help people understand if they are at an increased chance of getting a disease that are problematic.  Some prognostic biomarkers, like high blood pressure, are useful enough to act on.  Most genetic prognostic biomarkers have too weak an association with disease to offer definitive information on whether the disease will occur.  The utility of these tests depends largely on the ability to link the test result to the disease.  This is the argument against whole genome testing.  Much of what it turns up will not be clear as to its utility in making medical decisions.

CGrantL
CGrantL

@Pharmacologist These associations between biomarkers and disease should get better as we continue to sequence genomes of those that are affected by these diseases, correct?

jleonard
jleonard like.author.displayName like.author.displayName 2 Like

There are success stories.  Genetic testing will save money!  If it turned out the parents carried the bad genes then they could have decided not to have more kids (saving money). From this story, one might think that doctors shouldn't prescribe any diagnostic test unless they know the outcome before administering the test.  Absurd!

zerianis10
zerianis10

@jleonard 

Apparently, you miss that it is NOT a 100% chance that someone will have damaged children if they have X genetic mutation or Y genetic mutation. The highest it goes is 50/50% as far as I know.

f4xtrafn
f4xtrafn

You should NEVER see a doctor unless you need to. He is required to release all information to the insurance company if you sign a release. If you don't sign a release, you will automatically be denied coverage. For the same reason, never allow a health practitioner to do any test not directly related to what you are being treater for. This abuse will only end if a law is passed that makes it illegal for a health practicioner to release a patient's record under any circumstance AND it becomes a crime for anyone, including an insurance company from even requesting the information except if they have evidence of insurance fraud.

CGrantL
CGrantL

@f4xtrafn Because it's ridiculous for an insurance company -a profit driven company- to not want to cover those that have predisposed medical disorders...honestly, the fact that you have a genetic disorder is -unfortunately- your problem. Only when you have universal, not for profit healthcare will you see this problem go away. We should realize that when you buy insurance it is to cover unexpected costs, and if you have a predisposed health problem...that's not exactly unexpected is it?

jimcmillan
jimcmillan

@f4xtrafn Insurance companies are not in business to provide charity.  As an insurer, I would base the price of the insurance I provide on an accurate assessment of risk.  Those that withhold relevant information relating to risk, known by them to be important, are committing insurance fraud.  Insurance companies routinely require blood tests before issuing insurance, and refuse to pay on preexisting conditions for good reason.  Casinos don't want people playing in their casinos when they have an edge over the odds.  Insurance companies and the honest insured suffer when someone cheats their insurance company by keeping secrets.  The public sympathy is with the cheaters though as we see from many of the comments and the words out of the mouths of politicians.  My insurance company would offer affordable rates to the healthy.  Eventually getting ill happens to even the healthy, but not like those with pre existing conditions.  Sorry, but my insurance company owes a duty to the stockholders who prudently invest their retirement money for profits and dividends, otherwise it should not even exist.  Those with pre existing conditions either need their own money for medical expenses, or charity, or Obama who would take the money by force from those that earn it for the benefit of those deemed to need it more.

zerianis10
zerianis10

@jimcmillan

There is a huge difference between cheaters and people who are unable to afford health insurance because they are not being paid anywhere damned near enough. Most people fall into the latter category. Actually, ALMOST ALL fall into the latter category.

impax10
impax10

@f4xtrafn Your rant is ridiculous.  Doctors bill your insurer for their care of whatever condition they are caring for.  You can't have diabetes and get care for it without your insurer knowing...YOUR INSURER IS THE ONE PAYING THE BILL FOR THE CONDITION.  If you don't want a health insurance company knowing your health conditions yet you still want those conditions cared for, drop insurance and pay for them yourself. If you don't want any medical conditions you have to be discovered before they KILL OR DISABLE YOU, then by all means avoid the doctor and keep your genes out of the gene pool.

_JenniferLyn
_JenniferLyn like.author.displayName like.author.displayName like.author.displayName 3 Like

Health recommendations are general and numerous and sometimes seemingly conflicting.  Tools like this will provide the opportunity give instruction more specific to the individual.  If I have a genetic predisposition to have high cholesterol, I'll eat very carefully and be tested for that regularly.  If I have a genetic predisposition to Alzheimers, but not high cholesterol, I can eat a normal healthy diet without being extra careful of the cholesterol, which is great since I am going to devote extra attention and time to ensuring I have what I need for my later years all set up.  This is something everyone *should* do, but not everyone gets around to.  The predisposition to Alzheimers would just ensure that I prioritized it. This information will allow for a greater understanding of one's personal health and needs. 

zerianis10
zerianis10 like.author.displayName like.author.displayName like.author.displayName 3 Like

These genetic tests are necessary. In some cases, genetic markers don't just say you have a probably of having a disease, they say that you DO have that disease.

I personally had one of these done, paying out of my pocket for it. It showed that I had a very rare genetic mutation which was linked to a higher (500% higher) chance of having Asperger's. Now, I already knew I had Asperger's but this helped piece together the puzzle of WHY I had it.

I also got my daughter's tested and thankfully, they didn't inherit the same genetic mutation that I did nor are they carriers of the precursors to that mutation.

ITB
ITB like.author.displayName like.author.displayName 2 Like

@zerianis10 - like the scientists who are forging ahead with this relatively new field of study, you are also helping to bring answers to light.  I commend your bravery in demanding scientific answers.  Genetics is new frontier of science and medicine.  It's an exciting time thanks to the new pioneers, including you, your daughters, and the professionals willing to unlock the mysteries hidden within ourselves.

MarkEb
MarkEb like.author.displayName like.author.displayName 2 Like

Some genetic markers (SNPs) strongly predict diseases, but those are very few.  Others predict strong correlations and still others are very weak correlations.  BRCA is a marker that is the best know genetic life saving test because it you have that marker for breast cancer you can have your breast removed before physical diagnosis and live as opposed to waiting for a physical diagnosis and it is too late (super aggressive fast form of cancer).  But BRCA is just one marker.  In terms of whole genome sequencing, the greatest, no brainer successes right now are those who have serious late stage cancers.  Whole genome sequencing can make a huge difference in terms of the type of cancer coctail prescribed and the following outcome.  The cost should be (despite the nonsense of this article) about $1k - $2k dollars.  I know because I'm one of the people that developed this technology for the past six years.   Cancer has many forms, and therefore many treatments.  Sequencing can and does match cancer type to treatment and that makes a huge difference.  Many (maybe most) childrens hospitals have sequencing labs set up for identifying genetic disease.  Many really bad genetic diseases are only found in kids because you can't live more than a few years with them.

HenryMajor
HenryMajor

Thanks for not telling us the gene, or what it does. Or at the very least how they knew it was the one.

seps
seps

These tests were designed as research tools to help identify very weak signals that only become apparent after sequencing hundreds, if not thousands of people. Even then, we have limited knowledge of what to do with the vast amount information. The main of these tests is for research, and they are of limited value to the public, and bang for the buck is terrible for the health care system and consumer aside from a few types of presentations, such as what this article is focused on. 

jimcmillan
jimcmillan like.author.displayName like.author.displayName 2 Like

@seps Maybe not so difficult.  Depending on the SNP involved.  If, out of a thousand people, the person with the problem has the only variation.  Most base pairs are identical between humans, like more than 99%   The symptom has a good chance of narrowing down the search as well.  For example: purple eyes might lead one to check the base pairs controlling eye color before the billions of other base pairs whereupon you find a single base-pair discrepancy from those usually identical between humans - a single nucleotide polymorphism (SNP).  With this very computer - a garden variety AMD duel core - that I am using to access the net for this comment, it takes about ten seconds to compare a set of 1 million base-pairs with a thousand other such sets.  A thousand 23andme members have passed me their SNP sets for comparisons using my home brew software.  I have not yet gotten around to setting up my AMD 6 core cpu machine. A friend just jumped ahead of me with a 32 core machine with a couple hundred  Nvidia GPUs. He is more interested in simulation of nuclear fusion in a tokamak.  I might add that 23andme possesses a collection of about 180,000 sets of one million of the more likely SNPs.  I am just a regular customer of 23andme and not otherwise affiliated for those that might make an accusation.  A few thousand 23andme members will pass you their complete snp sets if you ask.  My 23andme snps are totally public and may be downloaded for any purpose at http://www.box.net/shared/edlj33z0rz  This is the earlier Illumia chip version of about 500,000 SNPs circa Sept 2008.  I am patiently waiting to upgrade when the price for the billions of base-pair version is below $500 which might not be too far away.  I might be cloned then if anyone would like to try that.

MiddletonRobert
MiddletonRobert

I get paid over $87 per hour working from home with 2 kids at home. I never thought I'd be able to do it but my best friend earns over 10k a month doing this and she convinced me to try. The potential with this is endless. Heres what I've been doing, Zoo33,Com

jimcmillan
jimcmillan like.author.displayName like.author.displayName like.author.displayName 3 Like

I paid $499 for several members of my family to have 500,000 SNPs analyzed in Sept 2008 by 23andme.  The result has been hours spent chatting with new friends on 23andme; Vastly increased understanding of genetics; knowing that one of my grandsons has double the chance of developing diabetes in his lifetime, knowing that one of my granddaughters and my brother in law are carriers of familiar Mediterranean fever passed to a son from my wife then to his daughter,  finding through the occurrence of half identical chromosome segments 8 previously unknown cousins and our shared gg..grandparents;  a collection of nearly 1000 genomes of others passed to me by their owners for analysis by some software I wrote;  learning that some drugs will work better or worse with me because of my SNPs; a suspicion that the abnormal protein of unknown significance with a 1% chance each year of becoming multiple myeloma found in my wife's blood is related to the malformed proteins of familiar Mediterranean fever - her dad died of MM;  that I am lactose intolerant which explains the occurrence of my occasional bouts of gastronomical distress, and there is more.  It was worth the money.  Just the warning to my granddaughter that she is a carrier of the obscure genetic disease of familiar Mediterranean fever or the warning to my grandson that he has a high propensity to develop diabetes would have been enough.  No telling what advantages will be conferred as the significance of the SNPs my family possesses are unraveled as research advances are reported daily.  No one I am aware of among the 180,000 or so members of 23andme are anxious as a consequence of knowledge of their SNPs.   To be forewarned is to be forearmed.  So many members of 23andme express relief finally knowing the cause of their health problems after years of misdiagnoses, and finally receiving proper treatment.

ITB
ITB like.author.displayName 1 Like

@jimcmillan  Your experience is testament to the advantages of "knowing" instead of guessing.

Talendria
Talendria

I understand the allure of genetic testing.  My father's sister died of cystic fibrosis, and I spent many fretful moments of my pregnancy wondering what if.  But these tests, in their current form, are just going to freak people out and cause health care costs to explode.

ITB
ITB like.author.displayName 1 Like

@Talendria - in the long run the costs will go down.  If you want to understand freaking out, try watching a relative go for years from doctor to doctor searching for answers to confusing symptons, only to get an answer after it was too late for treatment.  

abelinone
abelinone

So wtf is the point of engineering a test if no one uses it.

pbernasc
pbernasc

@abelinone 

the test gives science information it can use to improve our lives. In 25 years from now, with the help of the information collected, babies will be genetically enhanced while in the womb and come to birth with all the optional features a mother and father could possible want: a big penis, well developed muscles to impress the ladies in kinder garden, Schwarzenegger look  so they all will get a part in a movie and not have to work for all their lives after that ... etc etc ...

think of the possibilities ... your son will be born a lot less stupid than you are .. ins't that a miracle of science and technology,. 

Feels like a world to be looking forward to

adnan7631
adnan7631 like.author.displayName like.author.displayName like.author.displayName 3 Like

@pbernasc @abelinone 

So, basically, everyone can be born with blond hair and blue eyes. 

That is not at all what the point of these tests are for. Genome tests are useful if you have a peculiar disease, or an unexpected one. It also gives you some information on how likely you are to develop, say, cancer or Alzhiemer's. But I don't think that everyone should use these tests. I, for one, I'm not going to test to see if I have a defective gene that causes heart disease. I'm going to assume I do (runs in the family) and then do my best to prevent it. I don't care if Alzhiemer's or cancer runs in my family. I will focus on something a bit more immediate and more likely (in my eyes), which is death by heart attack.