Report: High False Positive Rate In Prenatal Genetic Testing

This is KPBS midday edition. I am Maureen Cavanaugh. It only takes a blood sample -- that is one of the reasons genetic test by those developed at San Diego Sequenom Laboratories are becoming widely used for prenatal screening. As easy as the test are to perform it is not as easy to find out how accurate they are. A story by the new England studied or investigative reporting has looked into the links between genetic counselors, the list that conducted tests, and the companies that develop them. It finds that somewhere in in that mix, some perspective parents are not being told how often those tests can be wrong. Joining me is reporter Beth Daley with the New England Ctr. for investigative reporting. We invited Sequenom Laboratories to join us but they declined. Your report -- you start report with a couple pools prenatal test told them their child was almost certain to be born with down syndrome. Tell us about them. So this is like many other couples. Today if you are pregnant you go into a office, no matter your age actually, you might be offered a blood test. At a very early stage of pregnancy -- nine or 10 weeks. That can tell the gender of your child can also tell you a growing list of potential problems -- usually chromosomal abnormalities. Didn't like down some drones -- things like down syndrome or complicated disorders. Many women are getting these tests and to test -- the test are advertised as 99% accurate. By virtually all marketing material -- So this couple -- their doctor recommended a test called maternity to 1+ developed by the Sequenom Laboratories. Why did he recommend that test? Was at the kind of thing he recommend it to all of his patients? Devon had a blood test early on that show she was potentially at risk for having a child with down syndrome. Her doctor suggested she take maternity 21 -- is stands for the chromosome T 21 that is related to down syndrome. So she had it done and the tests are very accurate -- they are. Early on -- before she got tested her doctor said these tests were 99% accurate. They are rarely wrong. One of you get one? These tests are not diagnostic -- they are just screening test. They don't tell you the child has a disorder -- just the chance that the fetus might have the problem. So she gets the test and it comes back positive for T 21 which is down syndrome. It is not you might be at high risk -- it actually said positive or down syndrome. She went to go see a genetic counselor who did something which seems small but is incredibly important. The genetic counselor said in essence, according to Devon's medical records we look at -- this test is really accurate. There is enormous chance your child will help down syndrome. You should get an amniocentesis -- but it looks like this child would have down syndrome. The fact is, what the counselor did not tell her and many do not -- they are not using this theory -- the statistics. They are not telling women that actually the test is often really right if you look at it from a broad spectrum. Most people do not have these disorders. 99% of the time the test is going to be right. Is going to tell people -- pregnant women their child does not have a problem. With the people that the test comes back positive, a different statistic is needed. It is called predictive values. It basically says if you get a positive test result, the chances are it is right. The chance is the number is very much lower than 99%. In some cases it is only 10%. And Devon's case it was 50% This talk about the role of the genetic counselor. What is a genetic counselor and when do they get involved in genetic testing? Is a young industry -- you need a Masters degree. There about 18 states that license genetic counselors. They act as a liaison between these large number of genetic test coming on the market and the patient's. In the prenatal realm, you may or may not know what genetic test are huge in prenatal. Mini genetic counselors -- the majority work in prenatal. Constantly they are acting as interface between lab companies that are profit motive and selling the test of patients who really want answers about their unborn child. They unfortunately found in these few cases the genetic counselor either did not disclose they had a financial relationship with the lab company which many patients seem to want to know. So they can make an informed decision. Or they were passing on statistics about questioning that the lab company gave them. Where there links between the -- genetic counselor and Sequenom Laboratories -- the maker of this test? Devon has a baby, -- I should back up and say they did not want and amniocentesis. And Amiel calls with a small risk of miscarriage. Devon and her husband decided this baby could have a fulfilling life for their family and decided not to have and Amiel. They do not want to risk miscarriage. They were okay with having a down syndrome baby. The baby was fine. There is no sign of down syndrome. They were taken aback -- they really had prepared for this child. A sort of went on and had a couple more genetic test on the scene to rule out the disorder. Until about a month after their baby was born he got on the phone with a genetic counselor. The counselor said that test -- it is still a true positive. It was still a positive test result. They became outraged and confused. Ultimately they became angry. They said this baby looks fine, how could it be that the test result was right? They pay $2000 more for another test. To show the child did not have down syndrome. Then one night Devon and her husband began googling the genetic counselors name and found out she was mentioned in the Law Street -- Wall Street Journal article and was a spokesperson for the company. She was quite upset by that. She definitely felt the counselor should have told her the affiliation. Because Devon felt like the color the advice the genetic counselor gave her. You have Artie said when you get a false positive on something like this -- for a woman of her age, there is more than a 50% chance the test could be wrong. That it is indeed a false positive. If parents do not realize the screening tests are wrong when they come back positive, or how often the percentage of them could be wrong when they come back positive. You found out they sometimes decide to in the present -- pregnancy -- in the presidency -- in the pregnancy. They do. We found cases where women terminated the pregnancy largely based on the results of the screening test. Is not diagnostic. There have been a couple of other studies -- 6% of women terminated pregnancies based on the screen results. We don't of course know what is in their mind is like maybe there are other things going on. It is worrisome. The industry has recognized it. Is a perfect storm. It is an unregulated field -- these are not regulated by the FDA. Nobody is making sure the tests are accurate or watching the marketing claims. The second thing is they are saying things in the marketing material like Sequenom Laboratories does, never maybe. The test is never maybe. Is funny because the test is always maybe -- is a screening test. The words are using -- the way they are presenting the test reports to women and doctors with words like positive, and they have the 99% to the six on their. Those things together really inferred that the test is far more diagnostic than it is. Some anecdotally -- some of those women who decided to end the pregnancy, the babies were found not to have have down syndrome is that right? Exactly -- in the Sanford case that was true. And the other industry funded study -- we just know they terminated without getting a confirmatory test. We don't know the result. So finally -- are regulations cracking down on these problems that your report has found? The FDA is trying. What happened was that when we started -- FDA started regulating tests, they excluded a really small segment at the time of tests that were developed in hospitals by a group of experts to maybe figure out a different strain of pneumonia they contest for. But what happened when the genetic industry came to the forefront after the sequencing of the genome -- they discovered they could actually sell the test the market them without FDA approval. Simply by basically developing and selling them and making them in a single building. Today there is 15,000 test offered by US labs on the marketplace. The vast majority of them have never been looked at the FDA to see if they are accurate or safe. These prenatal tests are part of the group -- the FDA is attempting to crack down. There is a lot of pushback by industry who argue it will wreck innovation and not allow them to help people more. The debate is being played out in Washington. They intend to regulate it though it may take some time. I've been speaking with reporter Beth Daley -- can see her full report at the website of the new England Center for investigative reporting. Thank you so much. Thanks for having me