Family Matters

Why Cheaper Genetic Testing Could Cost Us a Fortune

  • Share
  • Read Later
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.

jleonard
jleonard

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!

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.

_JenniferLyn
_JenniferLyn

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

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.

MarkEb
MarkEb

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. 

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

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.

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.

abelinone
abelinone

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