Cleveland Clinic Researchers Receive NIH Grant to Study Shared Decision-Making for Prenatal Genetic Screening

The National Institutes of Health (NIH) has awarded Cleveland Clinic a research grant to study how to help patients and healthcare providers have informative and meaningful discussions about the use of new prenatal genetic tests.

Ruth Farrell, M.D., MA, OB/GYN and Vice Chair of Clinical Research for Cleveland Clinic’s Ob/Gyn & Women’s Health Institute, was awarded a four-year grant to study how best to guide obstetric care providers implement new prenatal genetic tests into patient care in an evidence-based and patient-centered manner.

The multicenter study, an R01 funded by the National Human Genome Research Institute (NHGRI), will focus on studying the shared decision-making process that takes place between patients and their obstetric providers when discussing the use of new tests like cell free fetal DNA (known as noninvasive prenatal testing or NIPT) and other new genetic technologies offered during prenatal care. The emphasis will be on developing tools and resources to help pregnant women and obstetric care providers have effective and personalized discussions about the use of a growing array of prenatal genetic testing options.

Over the next four years, Dr. Farrell will collaborate with leading researchers at Cleveland Clinic and across the nation to find new ways to deliver evidence-based and patient-centered care in a time when genetic technology is advancing so quickly.

“Our understandings of genetics is unfolding at an amazing speed. We need to develop effective ways to ensure that patients can make informed decisions about their use.” Dr. Farrell said. “The goal of our study is to demonstrate that an easy to use point-of-care tool can help patients have better conversations with their doctors and midwives about whether they want to undergo testing, and if so, which test to use and how best to use that information to make critical decisions about their pregnancy.”

“Each year, over 4 million women in this country come to their doctor or midwife for prenatal care. That means that the introduction of a new genetic test can have a major impact on the delivery of prenatal care and, more importantly, the health of mothers and babies. The goal of this work is to ensure that all women have the information and support they need to make decisions about their testing options. Better understanding can translate to better care and better health of women and families.”

As a part of this study, members of the research team will recruit pregnant women at their first prenatal visit to better understand what they know about the different prenatal genetic tests and how they want to learn and make decisions about those options as a part of their prenatal care. They will then follow study participants through the pregnancy to determine how their decision making needs and preferences may change over time with the pregnancy.

Advances in genetic medicine, such as cfDNA screening, provide screenings for dozens of conditions that were never before included in routine prenatal screening, such as sex chromosome aneuploidies, rare autosomal aneuploidies, and microdeletions. Though not all providers offer cfDNA screening for these indications, the technology exists. As a result, more patients are hearing about these tests and asking their healthcare providers about them. As Dr. Farrell explains, “The data from the study will identify how to best structure shared decision-making discussions about these tests between a pregnant woman and her doctor or midwife. In order to work, these interventions must meet the needs of both patients and the different healthcare providers who play a role in the delivery of prenatal care, while also identifying the challenges and barriers to implementing best practices into the clinical translation of new genetic tests. That’s why we plan on listening directly to patients and healthcare providers to hear what it is that they need.”

Charis Eng, MD, PhD, Chair of the Cleveland Clinic’s Genomic Medicine Institute and Director of its Center for Personalized Genetic Healthcare notes, “Joint decision making and non-directed counseling are standard in medical genetics practice. Typically, genetic counselors are highly knowledgeable and are the ones providing information and counseling to such patients. However, the pregnant woman’s first line of contact is not with a genetic counselor but her obstetrician or midwife. Thus, Dr. Farrell’s proposed work will provide vital knowledge in regard to what the patient needs are for prenatal cfDNA screening.”

This study is the next step of a line of decision analysis research conducted by Dr. Farrell and her Cleveland Clinic team, which includes a genetic counselor, over the past decade to identify best approaches to support patient and provider education and communication about new prenatal genetic tests. Thanks to those studies, which were funded by the NIH and March of Dimes, we now have a much better idea of the kind of information and support pregnant women want and need as they face decisions about genetic testing during pregnancy. “Dr. Farrell’s proposed work exemplifies modern scientific inquiry: obtaining rigorous research information and then applying it to it for clinical practice,” explains Serpil C. Erzurum, MD, Chair of the Cleveland Clinic Lerner Research Institute.

“The first step of research is to understand the needs of the communities and populations that we serve,” Dr. Farrell said. “Once we have that, we can then build on the best science and scientific teams to determine how to best get the highest-quality healthcare to them. It is this part of the research process that helps fulfill my mission to help women have healthy and empowered lives.”