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As Prenatal Testing For Down Syndrome Increases, So Do Concerns About Counseling

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Devan Weathers found out her daughter, Layla, would have Down syndrome after taking a new noninvasive prenatal screening test.
Devan Weathers found out her daughter, Layla, would have Down syndrome after taking a new noninvasive prenatal screening test.

Devan Weathers was pulling into her office parking lot from a lunch break when she got the phone call from her doctor.

She was 20 weeks pregnant with her second child and had received two abnormal ultrasounds. Her doctor had said she would be a good candidate for a new test called "Harmony," one of the increasingly popular noninvasive prenatal screening tests to enter the market in the past two years.

With a simple blood draw, the test can detect certain chromosomal abnormalities in a fetus with startling accuracy and earlier in pregnancies than ever before. It was during that parking lot phone call that Weathers got her test results and learned her baby girl would have Down syndrome.

"It may not have even been a two-minute phone call," said Weathers, 32, who lives just outside of Lexington, Ky. "I hung up the phone and started crying in the parking lot at work, all by myself."

After getting her test results, Weathers was certain she wouldn't terminate her pregnancy, but she didn't entirely accept it, either -- and she had no guidance from the medical community to help her.

"Nobody offered anything. Nobody told me about any resources," said Weathers, who only received the services of a genetic counselor once she was in the delivery room. "I had to do all of that on my own."

She said she felt completely different during her second pregnancy than she did during her first. She never sang to her unborn daughter, the way she had with her son. She never talked to her. Some days, she wished the baby would just pass away on her own.

She admits she was in need of counseling. The added support may have helped her overcome these feelings.

"It has been nothing at all like I was portraying it to be and what I was expecting it to be," she said of her daughter's birth in January. "The love that has been poured out, it is truly overwhelming."

As "Harmony" and other noninvasive tests like "MaterniT21” and “Verifi” become the new norm in prenatal care, medical professionals and genetic counselors hope that women will get the guidance they need. But Weathers' experience highlights the challenges that come with the rapid implementation of a technology that is meant to be paired with education and information for parents, as well as sensitivity on the part of medical providers -- and often is not.

HOW IT WORKS -- AND HOW IT DOESN'T

Huge strides are being made in noninvasive prenatal screening tests to provide women with more information about the genetic makeup of their unborn babies early on in pregnancy. The growing body of information that will be made available to parents in the near future is going to be more nuanced and complicated, both medically and ethically.

As it stands, a mother who takes a noninvasive test -- in which fetal DNA from her blood is analyzed -- can find out if her baby has Trisomy 21, more commonly known as Down syndrome, or Trisomy 13 or 18, which are more severe and sometimes fatal. In recent months, however, the testing companies have started offering screenings for sex chromosomal abnormalities, including Turner syndrome and Klinefelter syndrome. In the not so distant future, the list might include Tay-Sachs disease, sickle cell anemia and DiGeorge syndrome.

Experts predict the tests will effectively become the new way expectant mothers first get the news that their baby has an abnormality. They provide women with key genetic information 10 weeks into a pregnancy -- two weeks before women are often advised it's safe to reveal their pregnancies to the world -- and have a near perfect accuracy rate, at around 99 percent for Down syndrome.

But the way the new tests have been rolled out for Down syndrome offers a snapshot of what parents might face as the tests get more sophisticated to screen for less familiar disorders and diseases, and as more women opt to take them.

Some experts caution that the tests are moving from the lab to the marketplace at a speed that is unprecedented, and too fast for the necessary counseling that should happen alongside the changes. They worry how effectively the medical community can communicate increasingly complex information with life-altering significance in an age when providers spend less time with patients than ever before.

"The physicians do a great job talking about the technical aspects of the test and signing them up. But when it comes to [the news that] your fetus has Down syndrome when the test is positive, nothing really has changed," said Brian Skotko, a medical geneticist at Massachusetts General Hospital and co-director of the MassGeneral Down Syndrome Program. "Doctors still don't feel trained or have an accurate understanding."

devan weathers
Devan Weathers, seen here with her husband and two kids, is part of a growing cohort of women opting to undergo new screening tests for genetic abnormalities.

That's a problem, Skotko said, because the number of women who find out about Down syndrome and other genetic abnormalities prenatally is going to increase dramatically.

The genetic research firm Sequenom in California was the first to launch a noninvasive prenatal test with MaterniT21 in October 2011. It has since processed more than 100,000 results. Dirk van den Boom, the CTO of Sequenom, estimates it will process between 150,000 and 200,000 tests in 2013 alone.

Three other companies also headquartered in California -- Ariosa, Verinata and Natera -- subsequently entered the fray with similar tests, and they're all now jockeying to make their product the test of choice for medical providers and insurance companies. The tests cost around $200 with insurance, and close to $2,800 without. Frost & Sullivan, a research firm, estimates that the prenatal testing market will grow to $1.6 billion by 2017, up from $1.28 billion in 2010.

In December of 2012, the American College of Obstetricians and Gynecologists recommended that the tests can be offered to all women 35 and older, and women of any age who are considered "higher risk." But clinical trials are underway to look at how the tests perform in pregnant women of all ages, and the results could be completed as early as a year from now. Experts anticipate that doctors will soon recommend the tests as part of routine care.

Noninvasive prenatal testing comes with a host of benefits, but it's also a tool so powerful that it prompts a critical question for the medical profession: What is the right amount of information to give parents? If the answer is to provide them with everything that's scientifically available, then another question remains: Can doctors and specialists provide the necessary communication and support to explain to parents what the tests mean in terms of options, odds and next steps?

COUNSELORS WANTED

Before tests like MaterniT21, an expectant mother might not know her baby was at risk for Down syndrome until well into her second trimester. She might get blood work and a sonogram between 11 and 13 weeks to identify anatomic indicators such as neck measurements. Together, those tests provide odds: A woman's risk of carrying a Down syndrome baby might be presented as 1 in 1,000 or 1 in 33. But 5 percent of the time, she'd get a false positive and often wouldn't get conclusive results from an amniocentesis until 15 weeks, or later.

Because the new tests can be done at 10 weeks -- and Natera's "Panorama" test can be done at nine -- they grant women more time to make an educated decision on whether to continue the pregnancy, or to prepare medically and emotionally to raise a child different from the one they might have expected.

Despite the high accuracy rates of the new tests, doctors stress that they are screening tests rather than diagnostic ones -- an important distinction, they argue. They say they strongly encourage women with positive results to get them confirmed through an invasive procedure such as an amnio or chorionic villus sampling, commonly referred to as CVS.

The noninvasive tests do sometimes produce false positives and negatives, though it's rare when that happens. In clinical trials, the tests had a false positive rate of 0.5 percent or less. But much has been made recently about how the tests performed in trials versus how they are doing in actual doctors' offices.

In describing the accuracy rate, reproductive geneticist Lorraine Dugoff said that "in actuality, in clinical practice, we don't really know what it is."

Dugoff is hoping to start a registry of false positives so experts can learn more about what causes them. She co-authored a paper, published in March in the American Journal of Obstetrics & Gynecology, outlining eight such cases that occurred in less than a year at two medical centers that were using the tests frequently.

The following month, the American College of Medical Genetics and Genomics started recommending both pre- and post-test counseling from a prenatal care provider or genetic counselor so that people are aware of the tests' limitations.

Barbara Biesecker, director of the Genetic Counseling Training Program at Johns Hopkins Bloomberg School of Public Health, argued that some of the nuances of the noninvasive tests could be lost if the tests become routine.

"I'm very concerned because there will be less counseling involved," she said. "I think OB-GYNs will ultimately order it at the same time as they order other tests and people won't know what they've consented to."

More tests will also mean that pregnant women who don't necessarily need to worry about problems could receive abnormal test results earlier in their pregnancy.

"From an OB-GYN's standpoint, you wouldn't spend the time talking to a 23-year-old about Down syndrome because their chances are so low. But if you're going to screen everybody, you're going to find them," Biesecker said. "That's a hard thing to figure out how to do well."

Anne Drapkin Lyerly, a bioethicist and trained OB-GYN with the University of North Carolina at Chapel Hill, explained that amnios are typically done with a lot of face-to-face communication. Blood tests tend not to get deployed as carefully.

"I think some of the challenges that are faced are these questions of counseling," Lyerly said. "How much do you need to talk to somebody before they have a blood test?"

'I WAS NEVER EXPECTING ANYTHING'

A mother of two from the Philadelphia area, who declined to give her name for privacy reasons, took MaterniT21 in February in part to appease her husband's concern about her age -- she is 38 -- and to find out the sex of her baby. (Some of the tests offer an additional perk: the ability to reveal the sex of the baby earlier.)

"I was kind of excited that maybe we might find out the sex," she said. "I thought we could get them in an envelope and take them home. This is all I was thinking about."

The woman admits to only half-listening during the genetic counseling appointment that preceded the test. A week later, the test came back positive for Down syndrome.

"I'd just gotten out of the shower and was half dressed in my towel. I picked up the phone and the genetic counselor was on the phone," the woman recalled. "She said, 'Unfortunately, I have some bad news for you.' That completely surprised me. Again, I was never expecting anything."

The woman went in for an amnio that same day. The genetic counselor never brought up either terminating or what it might be like to raise a child with Down syndrome, she said. The counselor seemed to want to delay talking about options until the diagnosis was official, but the amnio results came back two weeks later and confirmed it.

The expectant mom wanted to dive in to do all of her own research, since she has a Ph.D. and access to medical journals.

"What I did look for online was the numerical breakdowns," she said, citing statistics on children with Down syndrome who have congenital heart defects and intestinal problems. "That was key information that I homed in on. It would have been nice if it had come from the medical community."

She and her husband decided they didn't want their two older children to be responsible for taking care of a disabled sibling after they were gone. They are lacking financial resources and don't have family nearby to help.

The woman terminated in February at 17 weeks. She said it was the most difficult time of her life and she is still grieving.

After reading the stories of other women on BabyCenter.com, a pregnancy website with forums for expectant mothers, she created a memory box for her son, whom she named August. Among the items are his footprints, inked on a sheet of paper.

Jen SaeOng, a 35-year-old mother of two from Redondo Beach, Calif., also ended up doing all of her own research on Down syndrome after she got a positive result with MaterniT21 in January 2012. The visit with a genetic counselor, she said, was a disappointment.

"I had questions about how do I find my resources now? What are the local organizations around here? Where will I be going for early intervention services?" SaeOng said. "I got zero answers. Every single question was, 'I don't know, I don't know, ask your OB-GYN.'"

jen saeong
Jen SaeOng with her son, Caden, at his first birthday party.

The OB-GYN told SaeOng to ask her pediatrician, and the pediatrician told her to ask the genetic counselor. SaeOng turned to online support on BabyCenter.com forums and read blogs authored by parents of children with Down syndrome.

SaeOng is a strong supporter of noninvasive testing. She stressed that it's important for women to be able to prepare and get to a place where they're excited about their pregnancies, regardless of whether they're "normal." But her hope is that any increase in popularity of the testing is matched with sensitivity from those delivering the results, something she said she didn't experience.

"There was this kind of sadness about it all," SaeOng said. "I know it's not something people wish for, but I do wish the news was delivered with more hope, because I was terrified and there's a lot of unnecessary fear from what my experience actually turned out to be."

Six months into her pregnancy, SaeOng went in for an EKG with a new doctor and told him she'd known for weeks that her son had Down syndrome.

"He still, after knowing that, looked me right in the eye and said, 'And you're going to keep it?'" SaeOng said.

Heather Hicks, a 36-year-old mother of three from Springfield, Ore., had an entirely different experience. An hour after a positive result with MaterniT21, Hicks and her husband were sitting in the office of the genetic counselor who had administered the test.

"She had the facts in front of her," Hicks said. "She had a binder that she went through, page by page."

The counselor provided the name of a local support group and promised that she'd have a package of materials for the couple upon their next visit.

"I felt like she did a very professional job of presenting everything equally. We never felt like we were pushed into one option over another," Hicks said.

In April, Hicks gave birth to a baby boy who has Down syndrome. She's grateful she learned about her son's condition prenatally because it gave her time to grieve the loss of the child she thought she'd have, accept that he would be different, and arrive at a point emotionally where she couldn't wait to meet him.

heather hicks
Heather Hicks with her son, Cade.

But Hicks is not convinced that her experience is the norm.

"I have heard from a lot of people, especially on the BabyCenter group where people are from all over the nation. It seems like a lot of women haven't gotten real positive care," she said. "They've had doctors who felt they should have terminated or who felt like a higher standard of care isn't necessary because their baby isn't perfect."

THE INFORMATION VOID

Dr. Anthony Gregg, chief of Maternal Fetal Medicine at the University of Florida, said that the adoption of new technologies always comes with a learning curve. Noninvasive prenatal testing is no different.

Gregg is on the board of the American College of Medical Genetics and Genomics, which released its policy statement on noninvasive prenatal tests in April.
It outlines the tests' limitations and offers recommendations for how counseling should be approached before and after the tests. He argued the document would help to close gaps in the consistency of care.

"Providers were really receiving their education indirectly through media resources or indirectly through corporations with interest," Gregg said. "Now that that void is filled, I think you're going to see a very fast change in the slope of the curve in how this is deployed further. And I think it will be deployed with prenatal care providers having much more knowledge and information about this."

Representatives from all four testing companies said they are committed to ensuring medical professionals provide women with the right information about how the tests work.

"We have a very good medical affairs team which goes out and gives seminars and is properly educating the OB-GYNs about the test and the test capabilities," said Dirk van den Boom, chief technology officer of Sequenom.

Making sure that women know what the tests can and can't do is an important step on the path to effective care, but it's also only part of the equation, according to Brian Skotko, the geneticist with MassGeneral. Women who end up facing a Down syndrome diagnosis, Skotko said, have long confronted challenges in terms of the quality of guidance they receive.

"The problem has always existed. We're expecting the numbers to skyrocket in terms of the number of prenatal diagnoses made, so without any improvement, we are going to stress an already stressed system even more," Skotko said. "Unless doctors right now decide to figure out what the resources are, figure out how to develop a counseling infrastructure within their clinics, it's going to become even more chaotic."

IS MORE INFORMATION BETTER, OR IS IT JUST MORE?

Going forward, a woman getting her blood drawn for prenatal testing can expect to see a longer list of potential problems with her baby than just the Trisomies and the sex chromosome-based abnormalities.

One of the testing companies confirmed that it will be offering screening for certain subchromosomal abnormalities -- which occur when tiny pieces of DNA are missing or duplicated -- by the end of this year. The severity of these disorders varies and the symptoms of just one disorder can sometimes range from mild to debilitating. The same tests that look for Down syndrome will also eventually show the presence of certain single-gene defects in a few years' time, and probably sooner.

For some parents, knowing ahead of time that a child will have a medical issue will make them more prepared to line up specialists and early intervention services. For others, it might mean a difficult decision about whether to terminate for a medical reason they hadn't yet considered.

As the available technology becomes more sophisticated, what remains to be determined is how much parents will want to know about their unborn children and how much doctors should share with them.

Barbara Bernhardt is a genetic counselor with the University of Pennsylvania who has experience with what can happen when expectant mothers are given all the facts about their babies' DNA prenatally.

Bernhardt did a study in 2012 on women who had microarray analysis and learned about every genetic microdeletion and microduplication, not just the ones known to cause diseases. It was done through an amnio or CVS, and available to the women for free. She said the results of the study have her worried about the future of noninvasive testing.

"They were all jumping at the opportunity, like why would I refuse more information? More is always better," Bernhardt said. "When they got this uncertain information, they realized that might not always be true."

Understanding that a fragment of a gene is linked to schizophrenia in some adults, but means nothing in others, was too much. Most of the women and even some genetic counselors in the study were overwhelmed and ill-equipped to handle the information, Bernhardt said.

In 38 years of practicing, Bernhardt said she has never seen genetic technology move as fast as it has in the past five years, or be so driven by industry rather than academia. As the technology moves forward, she expects much of the responsibility for educating parents about noninvasive prenatal testing to fall on the genetic counseling community.

"I'm not sure we're going to be up to the task," she said. "If the volume is tremendous, there aren't enough counselors."

Dr. Gregg, with the ACGG, noted that for years doctors have been scanning for many of these abnormalities invasively. In that sense, the new test result offerings won't be new to doctors, they'll just be new for a growing number of parents who are expecting.

Representatives from all four of the testing companies confirmed that they plan to screen for a much greater variety of defects in the near future. They all effectively argue the same thing: Women have already been able to access this information by other means, but now the industry is just making it easier for them to get that information earlier, and in a safer way. Various factors, they also claim, will mitigate the speed at which the menu of offerings will grow.

Matt Rabinowitz, the CEO of Natera, said that when his company rolls out more sophisticated screenings, they will only test for the most common and severe abnormalities that are confirmed to cause a specific disorder. What doctors ask for will help to dictate the future of what's available.

"We want to target things that can be tested by an invasive procedure that have good clinical significance, things that people would want to be able to act on, not information that's just going to confuse people," he said.

Rabinowitz said his company believes genetic counseling is crucial if the new technology is to be rolled out into everyday medicine, adding that he has a large team of counselors on staff who even take calls from patients.

Vance Vanier, vice president of global commercial operations for Verinata, predicted that if the tests become routine, OB-GYNs will start referring women with positive test results to fetal medicine specialists, who deal with high-risk pregnancies and are comfortable doubling as genetic counselors.

As the industry collectively increases the number of conditions they screen for, though, one potential negative side effect is seeing the accuracy rates decline.

"We develop this innovative revolutionary technology to decrease the number of women who would have an anmio or CVS, and now as we add on to the tests, we increase the false positive rate and we're going in the wrong direction," said Tom Musci, vice president of clinical and medical affairs for Ariosa and a maternal fetal medicine specialist.

Musci estimated that since the industry started testing less common chromosomal abnormalities, the combined false positive rate may already be greater than 3 percent.

"I think this is very powerful stuff, but as we add more things onto the menu we need to ask ourselves, 'What are we looking for and why are we looking for it?'" Musci said. "The counseling burden, the education burden. All these things have to be taken into consideration as we add more things."

Ronald Wapner, a genetic researcher at Columbia University who conducts trials on noninvasive tests, said the medical community is debating how much education patients will need as the technology makes its way into the commercial space.

"Nobody should ever argue we shouldn't get new information," Wapner said. "It's how we use the information."

Wapner noted that the eventual goal of prenatal genetic detections is to be able to correct the abnormalities in the womb. Until that time comes, the tests give parents more time to make decisions and to work on early intervention services for their children, whether they're medical, educational or behavioral.

Barbara Biesecker, the genetic counselor with Hopkins, agrees that having a few extra weeks to make a decision is no doubt a positive development. But there are other implications of having that knowledge, she said.

"As people are earlier in pregnancy they may also feel less bonded and attached to the fetus, and may be more willing to decide that they want to terminate the pregnancy and sort of start over, or try again," Biesecker said.

She argued that noninvasive prenatal testing has the potential to encourage the idea that children are disposable and that you can pick and choose the ones you like.

The question is, will it?

"We don't know," Biesecker said. "Maybe people will learn more and make informed decisions and realize that there's a lot of quality of life associated with living with Down syndrome, and make the decision to continue pregnancies they otherwise wouldn't. I don't know. I think that's an open question."

What is not an open question, however, is whether pregnant women will increasingly face an onslaught of information about their unborn children before they've begun to tell people the news. And with that information will come an enormous demand for specialists who know how to convey that information with the care it deserves.

CORRECTION: A previous version of this article stated that ACOG recommends noninvasive prenatal testing to women over the age of 35 and those considered "higher risk"; the college only recommends that the tests can be offered as part of screening.

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