P-493 Navigating the landscape of reproductive genetic literacy: insights from healthcare professionals
Authors: Naghdi M , Heijlligers M , Van Golde R , Destouni A , Janssen A , Reyneke M , Essers R , Paulussen A , Van der Lugt A , Ruiter R , Salumets A , Zamani Esteki M 
Published: July 2024

Study question

What is the opinion of professionals on (promoting) reproductive genetic literacy among patients and its impact on delivering effective counselling?

Summary answer

Professionals acknowledge the benefits of promoting literacy but report that achieving a balance between providing essential information and avoiding unnecessary anxiety-inducing details remains a challenge.

What is known already

Advances in genetic testing empower prospective parents for informed family planning, allowing timely intervention for special needs. However, this transformation has shifted patients from being passive information recipients to the stressful role of decision-makers. The complexity of genetic information such as treatment plans and result interpretation, intensifies their stress. Given that pregnancy-related stress carries risks, including miscarriage, and premature delivery, promoting patient knowledge becomes crucial. While traditional healthcare prioritizes educating professionals, this study explores the perspective of professionals on educating patients. This shift aims to promote equal access to reproductive genetic options, ultimately improving overall family planning and reproductive health.

Study design, size, duration

In this qualitative study, 14 individual semi-structured interviews were conducted with reproductive healthcare professionals from Maastricht University Medical Center in the Netherlands. Interviews were guided by a set of open-ended questions refined through pilot interviews. All interviews were recorded and transcribed using Otter.ai software. Thematic analysis, facilitated by the Atlas.ti OpenAI-powered tool (Version 23.4), provided a structured and insightful method for identifying patterns within the interview data.

Participants/materials, setting, methods

We interviewed fourteen healthcare professionals with diverse expertise, including genetic counselors (n = 4), gynecologists or obstetricians (n = 4), midwives (n = 2), and psychologists or social workers (n = 4). Our aim was to gain insights from their perspective into the complete process of reproductive genetic care in the Netherlands, covering preconception to preimplantation and prenatal stages. Employing an ‘abductive approach’ during coding, we systematically organized codes into potential themes, creating a structured framework to capture key findings from the data.

Main results and the role of chance

Professionals recognized that having prior knowledge allows patients to actively participate in counseling, ask pertinent questions, and make informed decisions about genetic testing with reduced stress. Within the vast landscape of reproductive care information, professionals unanimously emphasize the importance of understanding the testing procedure, its duration, safety, and potential results to facilitate decision-making regarding genetic testing. However, they cautioned against overloading patients with excessive and over-precise information, which may hinder their choices. We identified five major challenges to effective counselling: (1) the complexity of genetic testing information, including technical terms such as chromosome, carrier disorder, phenotype, or mosaicism, which can overwhelm patients; (2) language barriers that disrupt communication, particularly among disadvantaged groups; (3) untailored genetic counseling characterized by a “one-size-fits-all” approach, overlooking individual demographic factors such as education, medical history, and cultural background, thereby reducing patient engagement; (4) while time constraints are generally not considered a barrier by Dutch professionals, exceptions arise in scenarios requiring translation and among midwives, who express limited time as a concern; (5) uncertain test results, including false positives/negatives, or incidental findings, pose challenges in interpretation without causing unnecessary stress, especially when discussing the severity of diagnosed conditions, leading to patient confusion persisting even after counseling.

Limitations, reasons for caution

The sample size of fourteen healthcare professionals might not fully represent the broader healthcare community. Furthermore, while valuable insights are derived from the perspective of professionals, to generalize the findings, it is essential to incorporate the experiences of patients during counseling sessions.

Wider implications of the findings

The findings emphasize the need for patient-centered approaches and targeted interventions in reproductive genetic care for improved accessibility and decision-making. Collaboration among healthcare professionals, policymakers, and advocacy groups is crucial for addressing challenges and promoting equitable practices. Despite the study was conducted in the Netherlands, the conclusions apply more broadly.

Trial registration number

N/A