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Back in the 1970s, when a class in genetics caught her interest, Deborah Driscoll ’77 couldn’t have predicted that the field was on the cusp of a revolutionary advance. By the time she began a residency as an obstetrician/gynecologist, the world of genetics had caught fire. “This coincided with the start of the human genome project, and very quickly I realized that the future was genetics,” she says now. “It was a very exciting time—the beginning of an era of molecular genetics.

Driscoll went on to combine her interests in genetics and women’s reproductive health. Today, as the chair of the obstetrics and gynecology department at the University of Pennsylvania’s Perelman School of Medicine, she’s a leading reproductive geneticist, specializing in prenatal genetic diagnosis, genetic screening and counseling, adolescent and pediatric gynecology and polycystic ovary syndrome. Last fall, she became the principal investigator for a new, $10 million March of Dimes Prematurity Research Center at the University of Pennsylvania. Further, last fall she became the first female president of the American Board of Obstetrics and Gynecology. “One of the most pressing issues we face is concern over maternal morbidity and mortality in the United States and globally,” she says of her professional group. Here she talks about her field, her role in counseling expectant parents and her leadership of a new, multidisciplinary approach to researching premature birth.

Advances in genetic technology have improved our ability to detect genetic disorders earlier in pregnancy. In the early ’80s, we relied on invasive testing such as amniocentesis. Today we can use a noninvasive maternal blood test called cell-free fetal DNA that can be done as early as 10 weeks gestation to screen for chromosomal abnormalities with a sensitivity of over 99 percent. Twenty years ago we would see a child with a birth defect and go looking for the cause. Today we find genetic changes through sequencing or micro-array analysis and look for what they cause. It’s a reversal of how we learn about genetic conditions.

As a geneticist and an obstetrician I have to be very open-minded and remember that it’s not my values that matter when I’m working with a couple, it’s theirs. The most important role I can play is to give them the best information to make an educated decision. The earlier we can offer prenatal screening, the safer it is and the more time it gives a woman to consider her reproductive options. Some women use testing to be prepared to care for a child with a genetic disorder; my goal is to provide support, referrals to specialists and access to information. Others may decide not to continue a pregnancy. These are very personal decisions and some of the most difficult decisions a woman will face.

As principal investigator of the Prematurity Research Center I have assembled a team of outstanding scientists focused on identifying the mechanisms that lead to preterm birth with the goal of identifying new preventive strategies to reduce preterm birth rates. Our goal is to partner with investigators who had never studied preterm birth to bring a fresh perspective to our research. I oversee a team of experts in obstetrics, pediatrics, genetics, metabolism, engineering and reproductive biology.

Gender balance is important, and I think we’ve achieved that [in medicine]. There’s been a lot of effort to promote gender equity in the sciences, and I think medicine is probably ahead of the other fields. The OB/GYN field is made up of 70 percent to 80 percent women.

I still have patients who send me pictures of their children. The hardest thing I had to recognize was that I was going to have to deliver bad news, too. No parent wants to hear that her fetus or child has a problem. I realized early on in my career that my role was to make it better for them.

 

SAQ, Summer 2015