A Randomized Trial of Chatbot for Prenatal Genetic Counseling

Current recommendations from the American College of Obstetricians and Gynecologists (ACOG) call for all pregnant people to be offered screening and diagnostic testing options for aneuploidy, including maternal serum screening, cell-free fetal DNA (cfDNA), chorionic villus sampling, amniocentesis, and carrier screening for cystic fibrosis and spinal muscular atrophy. As a result, the nearly 4 million pregnant people receiving prenatal care in the United States annually require access to associated, and complex, prenatal genetic counseling. Additionally, access to pregnancy terminations has radically changed in the post-Dobbs era. With these considerations and a commitment to person centered-care, informed decision-making is critical, and predicated on people having adequate knowledge of the benefits and risks of different testing options. In the context of prenatal genetics, no option is the correct choice for all persons. Instead, the ideal choice is based on an individual's beliefs and values. Obstetric care providers have the challenge of addressing an ever-increasing number of topics during the first prenatal care visit, and prenatal genetic counselors face a high number of referrals. Yet there is a national shortage of genetic counselors with an uneven geographic distribution. The resulting lack of access to standardized prenatal genetic counseling can lead to patient misinterpretation of the goals or results of prenatal genetic testing and may be contributing to socioeconomic and racial disparities in prenatal genetic screening and diagnosis. Minority patients have a lower uptake of prenatal genetic screening and higher live-birth rates of children with Down syndrome likely due to lower rates of informed choice rather than negative attitudes about testing. Language barriers further exacerbate misunderstanding of prenatal genetic testing options.

Mobile digital tools, including chatbots, provide an attractive alternative to in-person genetic counseling due to the near ubiquitous availability of mobile devices among patients and ability to ensure tailoring and standardization. Previous digital tools developed for prenatal genetic education showed promise, but most are more instructional than interactive, computer-based rather than mobile-based, and do not include information on carrier screening currently recommended by ACOG. Notably, most tools were developed before the clinical availability of cfDNA testing, now the most common prenatal screening modality in the U.S. To address this critical need, a multidisciplinary team of perinatologists, genetic counselors, and digital health experts developed an innovative, patient-informed, mobile chatbot (iPrenatal) to simulate a text and audio-based counseling discussion about aneuploidy screening and diagnosis . Preliminary data from the researchers' randomized trial of 258 English-speaking pregnant people showed significantly higher post-intervention knowledge scores among patients who used iPrenatal compared with those who received routine provider education (66% vs 55%, p < 0.001). The researchers propose to leverage this success by engaging users in formative work to create Prenatal GENEie, with information on aneuploidy and carrier testing, and provide all content in English and Spanish. The researchers will evaluate Prenatal GENEie in a randomized controlled trial of 1470 pregnant people in clinics serving racially and socioeconomically diverse pregnant women. The researchers will test their central hypothesis that an enhanced digital education chatbot providing standardized yet tailored prenatal genetic counseling will be comparable to in-person prenatal counseling by a genetic counselor in increasing patient knowledge and uptake of prenatal genetic tests.

The specific aims of this study are:

Aim 1: Determine the effect of Prenatal GENEie on patient knowledge and uptake of prenatal genetic testing, compared to in-person genetic counseling. The researchers hypothesize that Prenatal GENEie will result in non-inferior knowledge gain and testing uptake, compared to genetic counseling.

Aim 2: Assess ability of Prenatal GENEie to narrow the gap in knowledge and uptake of prenatal genetic screening between English- and Spanish-speaking patients, compared to in-person genetic counseling. The researchers hypothesize that Prenatal GENEie will narrow the gap in knowledge scores and uptake of prenatal genetic testing between English- and Spanish-speaking patients.