“Unfortunately, I have some bad news for you” about Down syndrome prenatal testing

As a companion piece to the HuffPostLive segment on Down syndrome prenatal testing (which I blogged about here), the Huffington Posts’ Katherine Bindley reported on the concerns about adequate counseling. Let’s look at some key quotes from that piece.

Bindley’s report is a very good piece of journalism, with interviews from key stakeholders: a geneticist, an OB/gyn, genetic counselors, and, to her credit, ACTUAL MOMS who received prenatal test results–three to be exact.  Here are some key quotes re-ordered to summarize the concerns about adequate counseling in the wake of NIPS testing:

• “[T]he prenatal testing market will grow to $1.6 billion by 2017, up from $1.28 billion in 2010.”
• The ACMG recommends “both pre- and post-test counseling from a prenatal care provider or genetic counselor”.
• “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.” Dirk van den Boom, chief technology officer of Sequenom:

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.

• Dr. Skotko, medical geneticist and director of MassGeneral Down Syndrome Program: “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. … Doctors still don’t feel trained or have an accurate understanding.”
• Barbara Biesecker, director of Genetic Counseling Training Program at Johns Hopkins: “I’m very concerned because there will be less counseling involved. … 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.”
• Anne Drapkin Lyerely, OB-GYN and bioethicist at UNC-Chapel Hill, “I think some of the challenges that are faced are these questions of counseling. … How much do you need to talk to somebody before they have a blood test?”
• Heather Hicks, a mom who participated in the HuffPostLive segment, said her genetic counselor “did a very professional job of presenting everything equally. We never felt like we were pushed into one option over another.” “But Hicks is not convinced her experience is the norm.”
• One mom “had no guidance from the medical community to help her,”

Nobody offered anything. Nobody told me about any resources. … I had to do all of that on my own.

She “only received services of a genetic counselor once she was in the delivery room,” despite having received a test result from Ariosa’s Harmony test.

• A woman who chose to abort received her test result from Sequenom’s MaterniT21 this way:

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. … She said, ‘Unfortunately, I have some bad news for you.’

“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.”

• Another mom who decided to continue her pregnancy after a test result, described her visit with a genetic counselor as 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? … I got zero answers. Every single question was, ‘I don’t know, ask your OB-GYN.’

The OB-GYN [said] to ask her pediatrician, and the pediatrician told her to ask the genetic counselor. … Six months into her pregnancy, [the mom] went to 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?’

• Barbara Bernhardt, genetic counselor with University of Pennsylvania, on the technology moving faster than ever, being driven more by industry rather than academia, and the responsibility of educating parents falling to the genetic counselors:

I’m not sure we’re going to be up to the task. … If the volume is tremendous, there aren’t enough counselors.”

• “Experts  anticipate that doctors will soon recommend the tests as part of routine care.”
• “Genetic counseling and screening for Down syndrome are … rapidly changing due to advances in genetics as well as the completion of studies evaluating the efficacy of population-based screening for Down syndrome … Areas of deficiency have been identified that require improvement before universal first-trimester screening for aneuploidy can be employed.”  
• “It is important to note that many practitioners do not feel comfortable with their level of training on these issues, and this lack of comfort was reflected in the fact that they answered fewer than 2 of the 4 knowledge questions pertaining to screening for aneuploidy correctly. … Until these deficiencies are addressed, universal implementation of first-trimester screening for fetal aneuploidy may not be feasible.”

Oh, wait, those last two bullet statements are quotes from a study of ACOG fellows on their knowledge level and practice usage of prenatal testing for Down syndrome that was published in 2006. The next year, ACOG changed its guidelines to recommend universal implementation of first-trimester screening for fetal aneuploidy, i.e. prenatal testing for Down syndrome and other aneuploidies.

Glad those deficiencies were taken care of six years ago, as Bindley’s report clearly demonstrates it is no longer a problem before NIPS becomes part of “routine care.”