Genetic counseling

Little Kate Summersgill certainly didn’t look like a child with Down syndrome — no upward slanting eyes or telltale flat facial features.

Devon and Mike Summersgill had believed baby Kate was all but certain to be born with the intellect-stunting disorder because of a blood test Devon’s doctor recommended during her 2014 pregnancy. Even after the birth, when their baby looked fine, their genetic counselor, Laura Limone, insisted that the result of the test was not a mistake, Devon says.

Only after the New Jersey couple agonized over Kate’s future and spent almost $2,000 more on another test were they satisfied that Limone was wrong — their baby was fine. And when they learned that Limone had a financial relationship with the company that makes the test, called MaterniT21 PLUS, they wondered whether money had influenced the counselor’s advice.

“My first reaction was just utter confusion followed by anger,” said Devon Summersgill, 33, a special education teacher.

Parents are starting to question the independence of the fast-growing field of genetic counseling as more and more counselors are paid by the companies that make the tests. About 14 percent of the nation’s 4,000 genetic counselors worked directly for testing labs in 2014, up from 9 percent just two years earlier, according to the latest count by their professional society. The balance tend to work for hospitals or doctors’ practices.

“It’s a mass exodus to labs,” where pay tends to be higher and the perks are better, said Cori Feist, a genetic counselor with Oregon Health & Science University...

But the insurance industry and some state regulators are beginning to crack down on the ties between genetic counselors and the testing companies. As of this year, some health plans offered by insurer UnitedHealthcare no longer cover certain genetic tests ordered by counselors that work for labs. Cigna Corp. already has a similar policy.

Concerns are also growing that counselors working in close proximity to patients in doctors’ offices may be over-promoting tests. Pennsylvania and Florida have prohibited lab personnel, including genetic counselors, from working at health-care providers’ sites.

George J. Annas, a bioethicist at Boston University’s School of Public Health, said counselors have an incentive to favor companies that pay them, and that may color what they tell patients, including what to say about a test’s limitations. Whenever a “highly competitive commercial business” gets involved in medical choices, “you’ve got problems,” he said...

All prenatal screening tests have limitations, but counselors don’t always explain them clearly, something Jessica Daviso of Andover, Massachusetts, learned in an alarming way. Daviso said her lab-employed counselor never told her “that my test result was probably wrong.”

Daviso, 33, received a prenatal test result from California-based Counsyl Inc., a lab company, in October that indicated a high likelihood her fetus had Turner syndrome, a condition marked by short stature and infertility in girls, according to emails between her and a Counsyl genetic counselor, Kristen Rauch.

Rauch told Daviso that a recent study showed the “false positive” rate for Turner and similar syndromes was about 1 percent, the emails show, and recommended a second test that would confirm the condition.

Daviso and her husband Eugenio then sought out experts at Tufts Medical Center, where a genetic counselor looked at the test and other factors, including her age and other personal data, and estimated there was only about a 14 percent chance that her fetus had Turner’s – not the near certainty that Daviso said she was led to believe.

That’s because the false positive rate is only one factor in measuring a test’s accuracy. In pregnancy, it represents the percentage of times that women carrying healthy fetuses are given false alarms.

But a pregnant woman who receives a positive result needs to know something more: among the much smaller group of women who test positive, how often is the test right? Many prenatal genetic-test companies do not prominently advertise this rate, known as the positive predictive value, the New England Center for Investigative Reporting has found.

After the Tufts input and ultrasounds that have not indicated a problem, Daviso declined to have the more-definitive test, which carries a risk of miscarriage. She is due in April and says she and her husband believe there’s little chance the baby will have Turner.

“The accuracy of these tests comes directly from the labs that analyze the results and seek to profit most from [their] administration,” said Daviso. “The companies are promoting an inaccurate test.”...

Several studies have found that non-invasive test results indicating a fetus is at high risk for some genetic problems can be wrong more than 50 percent of the time.

Some women appear to have terminated pregnancies based on the screening test alone, according to scientists and an industry-funded study. Officials at Stanford University in California said in 2014 that there have been at least three cases of women aborting healthy fetuses relying on results of a genetic screening test.

“Women are not getting complete information,” said Dr. John Williams III, director of Reproductive Genetics at Cedars-Sinai hospital in Los Angeles. “We have seen several cases in which the NIPT test results were false positives.”...

Devon Summersgill said it was her obstetrician, Dr. Neil Russo, who suggested she give a blood sample for Sequenom’s MaterniT21.

After the positive test result, Summersgill said Russo told her the screening test was 99 percent accurate and referred the couple to New Jersey Perinatal Associates, a high-risk pregnancy practice where Limone works. Limone said she is not paid by Sequenom for New Jersey Perinatal test orders.

Summersgill said Limone told her the test was almost certainly accurate. Limone said that the false positive rate for the test was tiny — 0.2 percent, according to medical records the Summersgills shared with NECIR. The Summersgills say Limone told them an amniocentesis would have to be done to confirm the finding.

Dr. Leon G. Smith, Jr., of New Jersey Perinatal, wrote to Summersgill’s obstetrician, saying she was “counseled” about “the definitive nature of NIPT studies” and said that there was a “very high likelihood that this baby has fetal Down syndrome.”

As a teacher, Summersgill had dealt with children with Down syndrome, and she and her husband had already decided abortion wasn’t an option because “we felt she could live a happy and fulfilling life.” They chose not to risk a confirmatory amniocentesis. The test result, and Limone’s comments felt “pretty definitive,” Summersgill said.

They began telling family and friends, that their daughter was almost certainly going to have the condition.

After Kate’s 2014 birth, another genetic test the couple sought from a hospital seemed to rule out Down, and they began to breathe easier. Then came a follow-up call from the obstetrician, Russo, who ordered the original test. The doctor insisted that he had never heard of a MaterniT21 test being wrong, according to Summersgill, and suggested another call to Limone...

Dr. Wayne LaMorte, who teaches medical-test interpretation in a course at Boston University, calculated that a positive Down screen from Sequenom was correct for someone of Summersgill’s age only about half the time.

The Summersgills said Limone never told them the test could be wrong so often for someone of her age group and did not disclose her association with Sequenom when she counseled them on the test results. They say the experience has left them concerned that women may terminate pregnancies based on test results that are shakier than portrayed.

“We squeezed a life time of worry into six months of pregnancy,” Mike Summersgill said. 

http://www.pri.org/stories/2016-03-09/questionable-calls-genetic-counselors-seen-downplaying-false-alarms
Courtesy of a colleague