A year and a half ago, few health insurers would cover a noninvasive prenatal test which draws blood from a pregnant woman to analyze fetal DNA unless the pregnancy was considered high-risk, which usually meant the woman was over 35.
The test, which screens for chromosomal abnormalities linked to genetic disorders like Down syndrome, seemed less essential for women with average- or low-risk pregnancies.
Today, at least 30 major U.S. insurers including Anthem, Cigna and more than a dozen Blue Cross Blue Shield affiliates nationwide cover the test for average-risk single-gestation pregnancies, expanding access to millions more people.
The turnaround is part of a broader move by insurers to pay for genetic tests and screenings. The technology is advancing quickly, and the cost of many types of tests is plummeting. Not all tests are covered. But increasingly, insurers are willing to cover screenings for genetic mutations linked to breast, colon and prostate cancer.
The trend has sparked concerns about the access insurers could have to the sensitive information such tests reveal.
Photo: Paul Chinn, The Chronicle
Matthew Rabinowitz, founder and CEO of Natera, is seen in a company genetics testing lab in San Carlos on May 4, 2017. Natera projects selling half a million tests this year, he said.
Matthew Rabinowitz, founder and CEO of Natera, is seen in a company genetics testing lab in San Carlos on May 4, 2017. Natera projects selling half a million tests this year, he said.
Paolo Jose calibrates equipment at the Natera genetics testing lab in San Carlos on Thursday, May 4, 2017. Natera Inc makes a non-invasive prenatal test and sells it to OBGYN practices and fertility centers.
Paolo Jose calibrates equipment at the Natera genetics testing lab in San Carlos on Thursday, May 4, 2017. Natera Inc makes a non-invasive prenatal test and sells it to OBGYN practices and fertility centers.
Insurers help make genetic testing widely available
We are seeing more insurance companies cover genetic testing for two reasons: The prices are going down and the value is going up, said Dan Mendelson, president of the Washington consulting firm Avalere Health. The growing coverage of such tests raises some important and extremely socially relevant questions about how the information is used, he added.
The trend is poised to bring a windfall to Bay Area genetic testing firms like Natera Inc., a San Carlos company that makes the noninvasive prenatal test and sells it to obstetrics-gynecology practices and fertility centers. The Natera test, called Panorama, has about 25 percent of the noninvasive prenatal test market share in the U.S. and is the fastest-growing genetic test in the country, according to data compiled by Wells Fargo Securities.
The noninvasive prenatal test is relatively new, coming onto the market in 2011. It is termed noninvasive because the more commonly known procedure to diagnose fetal chromosomal abnormalities, amniocentesis, involves sticking a needle into a pregnant womans abdomen to draw amniotic fluid, which creates a small risk to the fetus. The noninvasive test is not diagnostic, meaning that if it shows a positive result, an expectant mother must still get the result confirmed by amniocentesis. Negative results, though, could reduce the need for invasive procedures.
In December, the Centers for Medicare and Medicaid Services established pricing for aneuploidy and microdeletion testing two chromosomal abnormalities that the prenatal test is designed to detect. Medicaid and many private insurers use the agencys pricing about $800 for one test as a benchmark to set their own prices.
Between 2013 and 2016, Natera sales largely driven by sales of Panorama and Horizon, a genetic-carrier screening more than quintupled from 88,000 to 447,000, according to the company, which went public in 2015 and earned $217 million in revenue last year. Natera expects to sell half a million tests this year, said CEO Matt Rabinowitz.
Coverage is growing beyond the prenatal sphere. More genetic testing for breast, ovarian and colon cancer is being paid for because the information gleaned from the tests is highly predictive, said Lawrence Brody, a senior investigator at the National Human Genome Research Institute, a unit of the National Institutes of Health.
Insurance companies dont want to pay for things that make no health improvements, he said.
Twenty years ago, it cost more than $100 million to sequence the human genome; today, it costs only thousands, according to the National Human Genome Research Institute. Similarly, testing for specific genes is also more accessible.
It used to cost $3,000 to $4,000 to look at just two breast-cancer genes, Brody said. Now it can cost a couple hundred to look at a panel that has 20 genes on it.
Insurance plans are now more likely to cover tests for the gene BRCA1, mutations of which increase the risk of breast cancer, said Mendelson, the health consultant.
That is spilling over to other companies in the genetic-testing space. Over the last nine months, three of the nations largest private insurers Aetna, Humana and UnitedHealthcare have contracted with the San Francisco genetic testing firm Invitae Corp., making the company an in-network provider of diagnostic tests, including BRCA1 and BRCA2, for hereditary breast and ovarian cancer. That is catapulting the number of people potentially covered for these tests from 5 million to 180 million, according to Invitae.
Many genetic tests still are not covered. For example, patients must pay out of pocket for results from the Mountain View firm 23andMe, which sells tests that indicate peoples risk of developing 10 diseases, including Parkinsons, Alzheimers and some blood-clotting disorders.
Where they do cover tests, insurers do not necessarily get access to the results, but a doctor treating a patient may use billing codes that would result in insurers knowing about some diagnoses, according to a spokeswoman for the California Department of Insurance, which regulates insurance companies.
Federal and state laws limit what insurers can do with the information. The federal Genetic Information Nondiscrimination Act of 2008 prohibits insurance companies from discriminating against patients by denying coverage or charging higher premiums based on genetic information. California law goes a step further: It prevents insurers from discriminating against people who carry a gene that may cause a disability in their children.
Cigna does not have access to the test results, said Cigna spokesman Mark Slitt: Thats between patients and their doctors.
A spokesman for Kaiser Permanente said test results are reviewed only by providers and patients and not by the health plan.
A spokeswoman for Blue Shield of California did not directly address whether it saw the test results: As our coverage of genetic tests continues to grow, we go through a deliberate process of making sure the tests are scientifically sound and reliable for our providers and members, she said in an email.
Several of the regions largest insurers, including Kaiser and Blue Shield, said genetic testing can be applied to identify potential medical conditions and improve patients overall health, but they did not provide figures for how many such tests were conducted for their members.
Agreements between insurers and providers are confidential making it difficult to determine how many genetic tests are being done or covered by insurers, said Michael S. Watson, executive director of the American College of Medical Genetics and Genomics, an influential medical association.
Anthem, the first major insurer to expand its coverage of noninvasive prenatal testing to average-risk pregnancies, declined to comment.
Not all genetic testing is useful, medically relevant or accurate, and some experts have cautioned against acting on the results without proper guidance from genetic counselors. Genetics determine just 30 percent of a persons health; the other 70 percent is a combination of behavior, environment and other factors, according to a 2015 report by the Kaiser Family Foundation, which is unrelated to Kaiser Permanente.
You have to be sophisticated to interpret the results, Brody said. We do have a tendency in the U.S. to pile more on sometimes because we can. ... Some genes included three years ago on a breast-cancer test panel have been shown not to influence breast-cancer risk, so we got those taken off. Were learning as we go.
Menlo Park residents Shantanu Rane and Pratibha Gupta took a noninvasive prenatal test last year when Gupta was pregnant with their now-7-month-old daughter. They received a false positive for Turner syndrome, a chromosomal condition in females that can lead to shorter life spans and kidney and heart problems. The couple chose not to do an invasive diagnostic procedure and prepared for the worst. They found out seven months later, when Gupta delivered, that their daughter did not have Turner syndrome, after doctors did a cord blood test analyzing the genetic composition of blood from the umbilical cord.
Rane, who wrote a Medium post about the experience, said he wishes he had known more about how to interpret the results of the test, which showed that a chromosomal abnormality was detected, and that the lab would have been more transparent explaining the result.
There needs to be better education of the patients so they know what theyre going into, said Rane, a researcher in electrical engineering. You have a lot of headache and worry, and at the end you find out things are fine.
Catherine Ho is a San Francisco Chronicle staff writer.
Email: cho@sfchronicle.com Twitter: Cat__Ho
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A new era for genetic testing, especially in pregnancy - San Francisco Chronicle