Using only a single sample of a pregnant women’s blood, the latest prenatal genetic tests can produce an enormous amount of information about the pregnancy, including whether the fetus has a high or low risk for a genetic abnormality. These technological advances are raising profound and difficult questions for pregnant women, their families, and their physicians. Ruth Farrell, a practicing obstetrician-gynecologist and bioethicist at the Cleveland Clinic, is examining the ways that women’s spiritual and religious beliefs can frame or influence their decision-making processes.
What was the spark for the research you’re pursuing for the Enhancing Life Project? Are these new questions, or an extension of past research, or both?
This line of research began when I was an intern, when I was in the labor and delivery ward on a quiet night. I admitted a patient who was about 19 weeks pregnant. She came in with pain and, on examination, it was discovered that her membranes had ruptured and she was about to deliver. Even worse, she was by herself, without any family or a partner, to give guidance and support throughout the process.
So I sat and talked with her throughout the evening, and I learned that a few days earlier she had had an amniocentesis, which is a diagnostic test to learn if the fetus has a genetic condition. Previously, she had undergone a screening test to see if there was increased risk of fetal conditions like Trisomy 21, more commonly known as Down syndrome. Her test came back positive, but the only way to know for sure before birth was to do an amniocentesis, a test that has the real risk of miscarriage attached, often beginning with the rupture of membranes.
Talking with her, it turned out that she didn’t understand what the Quadruple screen was about or the risks associated with amniocentesis. It wasn’t that she couldn’t understand such information, but the way it was presented made it very difficult for her to make sense of the different concepts. She went ahead because she felt it was the “right” thing to do. We learned later, after she had lost the pregnancy and once all of the lab testing was complete, that the fetus did not have Trisomy 21. She had experienced what we as physicians call a false positive result.
I was and continue to be profoundly affected by that woman’s experience. While I recognize this experience is rare, it still represents not just important benchmarks and barriers in the process of women learning about their options and making a decision that reflects their goals and needs, but also what is at stake at every step of the way when the decision to undergo screening or diagnostic testing is initiated. So I became interested in the question of how we can best ensure that all women have the information, the decision-making resources, and the support to make an informed choice about their testing options.
What aspect of prenatal genetic testing are you exploring in your Enhancing Life Project research?
I’m focusing my study on a new option for patients called noninvasive prenatal testing. I’ve noticed that when it comes to helping patients explore their medical options within the context of their goals and values—because informed decisions are made with knowledge and values—physicians often skirt around the topics of spirituality and religion. But I’ve come to understand that while they’re not always about spirituality and religion, many women do have their core values framed in those terms, and they rely on their values to navigate the many layers of uncertainty that can come with engaging with prenatal genetic screens and diagnostic tests. And if we don’t think about the role of spirituality broadly, and religion specifically, in the decisions women make, then we may miss an important part of the support we need to provide in the counseling process.
What does “enhancing life” mean for you? In what way will your project contribute to the enhancement of life?
It helps me look at the big picture. My research can get quite granular, looking at individual patient-healthcare provider interactions. But I want to stay focused on the trajectory of these technologies and the forces and factors that drive technology, for the scientists who develop it, the physicians who translate it and make it available to the patients, and the patients who decide whether to utilize such tests and how to incorporate the information gained into their healthcare decisions.
These technologies are intended to enhance life in a thoughtful, meaningful way. The problem is, however, that often the technology advances at a faster pace than our ability to decide if such technologies improve the human condition. While these are considerations for all areas of medicine, they have particular relevance when used during pregnancy. So, there are many questions we need to be asking. Technically, you could sequence the whole fetal genome but, often, it is still not clear what to do with that information. Do you continue the pregnancy? Do you end the pregnancy?
While patients represent an important voice in understanding the development of new prenatal genetic technologies, there are other important perspectives to be included. What are physicians’ roles in escorting these new technologies from the bench to the bedside? I also want to talk to the scientists who are developing the technologies, to say—what would the world look like if these technologies emerge as planned? These are questions that are profoundly linked to the concept of enhancing life, which is really an anchor for thinking about how and why these technologies are created and understood and utilized.
What’s the most surprising or interesting challenge you’ve encountered so far in your Enhancing Life Project research?
In many ways, the challenge is me. Researchers in my field rarely take the topics of religion and spirituality head on. My team and I designed an interview guide for our study that delves into religion and spirituality and my thought was, I cannot do this because my medical and scientific colleagues won’t take me seriously and pregnant patients probably won’t answer such questions. So I’ve had to realize that for physicians, asking patients about religion and spirituality is an uncomfortable place. So it’s raised questions for me in terms of research, but also in terms of physician education—we recognize these questions are important, but how we approach them in a way that meets the needs of patients is just a real challenge.
You don’t spend all of your time doing research and teaching! What’s your favorite place to travel, or the next place you’d like to go?
I love to travel. I have two small kids now, a little boy and a little girl. Having kids doesn’t keep us from traveling abroad; however, we have found that transporting all of the kid gear and the jet lag can get in the way of what’s most important to us: relaxing together as a family. So, right now I have found my favorite place to travel is the playground near my house, watching the joy of my kids and seeing them interact with the world. I can experience mystery and wonder akin to that of seeing the Great Pyramids of Giza or the Cliffs of Moher through their eyes and giggles.