Interview with Shannon Bonner, graduate student of genetic counseling at
Baylor College of Medicine, Houston, Texas, USA

Who are you & what is your relationship to OI?

My name is Shannon Bonner and I am currently a graduate student studying geneticShannon Bonner counseling at Baylor College of Medicine which is located in Houston, Texas. In the coming weeks, I will be graduating with my master’s degree in genetic counseling, and I will be starting my career as a prenatal genetic counselor at Texas Children’s Fetal Center. I first became involved with the OI community when I began exploring the topic of my master’s thesis research. Considering my interest in prenatal genetics, I was excited when the opportunity arose for me to investigate the experiences of parents who receive a fetal diagnosis of OI during pregnancy.

Who was behind the project? How was it financed?

I was first introduced to this research project by Chaya Murali, MD, a pediatric medical geneticist who sees patient’s in both the general genetics and skeletal dysplasia clinics at Texas Children’s Hospital. Dr. Murali and I developed this project with the help of several researchers at Baylor College of Medicine in addition to Michelle Fynan, PhD, who is an active member of the OIF. We could not be more thankful for the help we received from both the OI Foundation and the OIFE who aided in recruiting participants for this study. This research was supported in part by a research grant from the Genetic Resource Association of Texas.

What was your research project about and which methods were used?

My master’s thesis research is entitled “Receiving a prenatal diagnosis of osteogenesis imperfecta: parental experiences and satisfaction with genetic counseling”. During our initial review of the literature, we identified an obvious gap in research surrounding how to best counsel and support parents when they receive a diagnosis of OI during pregnancy. Guidelines exist that aid medical providers in diagnosing and managing OI in the prenatal setting; however, there is no literature that addresses the emotional aspect of receiving this diagnosis prenatally.

To address this gap, we conducted a mixed-methods study which utilized a brief online survey and telephone interviews to gain insight into parents’ experiences with prenatal genetic counseling and how satisfied they are with their overall experience. We recruited individuals for this study who received a prenatal diagnosis of OI within the last five years and were subsequently counseled by a genetic counselor, medical geneticist, OB/GYN, or maternal fetal medicine specialist.

What were your most interesting findings?

Ultimately, we found that parents receiving a prenatal diagnosis of OI are generally less satisfied with their genetic counseling experience when compared to other populations receiving prenatal care, such as those with abnormal prenatal genetic screening or individuals at increased risk for chromosome conditions in a pregnancy. When parents receive an OI diagnosis during pregnancy, yes, the medical management and informational aspects of the diagnosis are important. However, the parents from our study expressed a desire for counselors who recognize the challenge of navigating the uncertainty of this diagnosis and focus more on fostering hope and enhancing parental coping.

Through the interview portion of our study, we identified several factors that influence parental satisfaction with counseling, and we hope to discuss these findings in more detail through a future research publication. Briefly, we observed that parents valued counselors who provided comprehensive, tailored counseling which included discussions about all possible pregnancy outcomes, despite provider predictions of lethality. Parents also desired immediate referrals to OI community resources, such as the OIF and OIFE. Parents with a personal or family history of OI often described experiences where their counselors held preconceived assumptions about their knowledge of OI. Thus, we encourage counselors and other clinicians to provide comprehensive counseling to these individuals, acknowledge their lived experiences, and avoid making assumptions about their knowledge of caring for a newborn with OI.

Any messages for the readers of OIFE Magazine?

I’m grateful for the OIFE for distributing information about our study during recruitment and providing me this opportunity to discuss my research. I am also incredibly appreciative of all our research participants for sharing their stories. This project has played a pivotal role in my journey to becoming a genetic counselor and the lessons I’ve learned from the OI community will undoubtedly have a lasting impact on my practice.