WASHINGTON – It has been nearly 18 months since the Washington, D.C.-based American College of Obstetricians and Gynecologists made its call for genetic screening of parents to anticipate cases of cystic fibrosis.
Calling it a “revolution,” the physicians association announcement quoted University of Pennsylvania professor Michael Mennuti, M.D., as saying, “The advances of the Human Genome Project have moved from the laboratory to the obstetrician's office. With these changes come new options and new decisions for expectant couples.”
Led by the American College of Obstetricians and Gynecologists, doctors and expectant parents are using the discoveries from the Human Genome Project to screen for possible future medical conditions in children yet to be born.
Yet accusations of uncertain and misinterpreted results are limiting its value in predicting hereditary conditions such as cystic fibrosis. Meanwhile, as a warranty against future disease or handicap, experts are warning that genetic screening is promising more than it can deliver.
The new push for screening also seems to have influenced some parents to end the lives of unborn babies who might have birth defects.
Partially as a response to the American College of Obstetricians and Gynecologists’ support for cystic-fibrosis screening, laboratories are experiencing a boom in diagnostic testing. Gary Samuels, spokesman for Quest Diagnostics Laboratories Inc., said the demand for genetic screening has soared by 400% and is continuing to grow.
“There are a lot of prenatal screening tests that prospective parents can have for various reasons,” he said. Competitors Myriad Genetics Inc. and MDS Inc., of Canada, have introduced genetic tests for inherited risk of breast cancer and ovarian cancer.
“We're profit-making businesses,” Samuels said. “So, broadly speaking, there is a competition among [testing laboratories] to identify new tests, since prospective parents want to know.”
However, cystic-fibrosis screening suggests the shortcomings of prenatal genetic testing even when there is a clear hereditary cause for disease.
“Any form of testing for CF – whether it be carrier screening, amniocenteses, chorionic villus sampling or newborn screening – does not provide a 100% guarantee that a child will or will not have CF,” the Cystic Fibrosis Foundation said in a prepared statement.
“With more than 1,000 mutations of the CF gene, information about testing for the CF gene and how that information predicts health is complicated,” the statement continued. “The existing tests identify the most common mutations but not all and, therefore, cannot offer a guarantee that a child will not have CF, nor can it indicate the severity of the disease.”
Instead, screening could lead to unnecessary worry and riskier prenatal tests, even if the screening results are interpreted correctly, which the American College of Obstetricians and Gynecologists admits is not always the case. In addition, genetic screening distracts from the need for a cure, which the Cystic Fibrosis Foundation is seeking.
“We prefer to address people who have CF today,” said foundation spokesman Alison Tobin. “Those with CF need a better life and need a cure.” She said ongoing research has increased the life expectancy of those with cystic fibrosis from five years in the early 1960s to more than 33 years. “We still do not have a cure, but CF is not what it used to be.”
Implicit in the concept of genetic screening is the concept of eradicating the disease by eliminating a child with the disease. The American College of Obstetricians and Gynecologists, concurrent with its support for genetic screening, believes couples likely to have a child with cystic fibrosis “must make the personal decision whether to continue or terminate the pregnancy.”
‘Children of God’
The concept of using abortion to prevent the birth of a child with a defect is alien to Steve Koob, director of One More Soul, a Dayton, Ohio-based nonprofit natural family planning organization. Koob said he and his wife, Mary, had a child diagnosed with a congenital birth defect.
“He could not survive outside the womb,” Koob said. “We were able to baptize Joseph and have a funeral for him. That was important for us.”
“Every child is a child of God, a human life that will live for an eternity,” he said. “Nobody would want to have a child that's mentally retarded or ill, but society should be there to help. Every child should be seen as a gift from God.”
Koob is concerned that “there is an attempt to put pressure on families, to drive parents toward contraception or abortion.”
“This goes back to the Margaret Sanger super-race mentality,” he said, referring to the eugenics-promoting founder of Planned Parenthood. “We need parents to keep in mind the humanity of any human being [and for] society and churches to accept all life.”
Beyond the ethics of screening out inherited illness, there is the question of whether the genetic tests offer a true picture of the risks, said Edward Furton, ethicist for the National Catholic Bioethics Center.
“There are many, many tests for genetic disease, but very few cures for these illnesses,” he said. “It calls into question the practical usefulness of these tests.”
Parental screening for cystic fibrosis gives no greater than a 1-in-4 chance of the mother's giving birth to an affected child, while more exotic genetic tests screen for future medical conditions that might not emerge until adulthood or later. Inherited genetic risk for breast cancer or ovarian cancer account for less than one in 10 adult cases. Most cases are linked to adult environmental or lifestyle risk factors.
“People don't understand probability,” Furton said. “There are risks for anything we do. Five percent sounds threatening, but that means a 95% chance it won't happen.”
Even good prenatal test results lead to a false sense of security, he said.
“Science and medicine are just part of the toolbox to help us have healthy and happy lives,” he added. “They will not protect us from all harm.”
Philip S. Moore writes from Portland, Oregon.