Treatment

Keeping the Faith

The utility of genetic tests is often measured by whether the testing leads to better health outcomes, but what if the ways to improve health go against a person’s religious beliefs?

Sheilagh Cullen had only recently started her midwifery practice in Amish Country when she delivered an infant with Amish lethal microcephaly, a rare disorder in which infants are born with a profoundly small skull and an underdeveloped brain. The lethal birth defect, caused by a genetic mutation, usually results in the child dying within the first four to six months of life.

Although Amish lethal microcephaly has stricken infants among the Old Order Amish in Pennsylvania’s Lancaster County for nine generations, Cullen says it was an “utter shock” to the first-time mother, who had received prenatal care but had forgone any genetic testing. The new mother, still in her late teens, asked Cullen to call her parents.

“The grandmother knew her daughter was in labor and answered the phone with such joyful expectation in her voice. I think she thought it would be her son-in-law, calling with the birth announcement,” Cullen recalls. “Instead she got me, saying, ‘Your daughter had her baby. I need you to come here right now.’”

The grandmother asked no questions, and Cullen did not provide further details. When the grandmother arrived moments later, she headed straight for her daughter, grasped her by the shoulders, and told her to hold her baby.

“That grandma didn’t even know what was wrong, but it hardly mattered. She needed her daughter to accept the baby God gave her,” Cullen recalls.

The baby died just two months later.

This is a sad but common story among Old Order Amish communities, where an estimated 1 in every 500 births results in lethal microcephaly. In fact, the disorder is so well-known among Old Order Amish that affected children are called, simply, “small-headed children.”

Old Order Amish, as well as members of other plain communities in Eastern Pennsylvania, descended from a small founder population that emigrated from Germany in the early 1700s. Their genes have proliferated over 17 generations, as have their flaws — flaws that most of us carry within our genetic makeup but which don’t show up unless we have children with someone else who has the same rare genetic markers.

More than 80 percent of Americans embrace a formal religious or spiritual identity that may influence their medical decision-making, including the acceptability of genetic testing. 

Because Amish marry within their own community, genetically inherited diseases like Ellis-van Creveld, a rare form of dwarfism, and maple syrup urine disease, a metabolic disorder in which the body cannot break down certain proteins, are more concentrated. Amish children are therefore more likely to inherit two copies of the particular recessive genes that lead to genetic disease. Some illnesses, including Amish lethal microcephaly, are so uncommon that they are almost never seen outside Amish communities.

As devastating as these diseases are, Cullen says the Amish accept the genetic disorders as “God’s will.” They reject the use of genetic tests prior to marriage to prevent these disorders or to discover genetic disorders in unborn children.

“Why spend time and energy and precious funds screening for something God wills? They will not do anything differently — they will not terminate the pregnancy, adopt out, or organize special schooling or therapy — so there is no need to know,” Cullen says.

In fact, so strong is this belief that in her 12 years of practice, Cullen says she has never had an Amish patient consent to genetic testing. “The conversation always ends with the patient saying, ‘Oh, well, if God made my baby that way, that’s the way it’s meant to be,’” she says.

The tradition-bound convictions of the Amish underscore just how much religious tenets can impact a person’s, family’s, or community’s views on genetic testing technology. But such is not only the case within traditionalist fellowships.

More than 80 percent of Americans embrace a formal religious or spiritual identity that may influence their medical decision-making, including the acceptability of genetic testing.

For people of faith, religious values almost certainly come into play when considering prenatal genetic testing, a technology that provides an increasingly detailed look at the still-developing fetus. Standard prenatal genetic screening usually includes a blood test and an ultrasound during the first trimester to assess risk of Down syndrome, other less common genetic diseases, or a neural tube defect. Until recently, it was not possible to either confirm or rule out these abnormalities without amniocentesis or chorionic villus sampling — both invasive procedures that require the insertion of a needle or tube into the womb or placenta. But new prenatal tests, known as cell-free fetal DNA tests, can detect abnormalities and even the sex of the fetus through a sample of blood drawn from the mother.

Knowledge gained from the tests, should a genetic abnormality be discovered, may provide the expectant parents with several options that affect the health or even the life of the fetus, including the time to prepare for the birth of a child with special needs, the use of fetal treatments against the detected disease, and the decision to terminate the pregnancy. Though the latter is a clear conflict with many religious paradigms, not all people of faith reject the idea of termination. In fact, it is the choice that 70 to 80 percent of women in the U.S. confronted with a prenatal diagnosis of Down syndrome have made. Certainly this figure includes women of faith, too, who may have grappled with how to reconcile their religious beliefs with their reproductive choices.

It is important that healthcare providers remember that, even among people of faith, the decision to have or forgo genetic testing is not written in stone. It is likely quite individualized, calling upon a range of personal, cultural, social, and religious beliefs. While educating patients about genetic testing options and the science behind them, healthcare professionals must thus be sensitive to patients’ belief systems and mindful of how they impact — but do not necessarily dictate — decision-making.