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Communication of an Abnormal Metabolic Newborn Screening Result in the Netherlands: A Qualitative Exploratory Study
Sietske Haitjema1, Charlotte M A Lubout1, Justine H M Zijlstra1
1Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.
Insights
General practitioners (GPs) face challenges communicating abnormal newborn screening (NBS) results for inherited metabolic diseases (IMD). GPs need better tools and support for effectively informing parents about critical NBS findings.
Area of Science:
- Medical Genetics
- Pediatrics
- Public Health
Background:
- Newborn screening (NBS) identifies infants with inherited metabolic diseases (IMD) for early intervention.
- Parental dissatisfaction with communication of abnormal phenylketonuria NBS results by general practitioners (GPs) was previously noted.
- Effective communication of NBS results is crucial for timely management and improved outcomes.
Purpose of the Study:
- To explore general practitioners' (GPs) perspectives and experiences in communicating abnormal newborn screening (NBS) results for inherited metabolic diseases (IMD).
- To identify challenges and areas for improvement in the current NBS communication process.
- To inform the development of better communication strategies for abnormal NBS results.
Main Methods:
- Qualitative exploratory study utilizing semi-structured interviews with ten GPs.
- An additional two GPs provided feedback via email.
- Thematic analysis of interview and email data to identify key themes.
Main Results:
- Four key themes emerged: urgency of results, GP role in NBS, current NBS organization, and role clarity in communication.
- GPs expressed willingness to communicate results but lacked experience and adequate tools for discussing IMDs.
- Concerns exist regarding GPs' preparedness to handle complex NBS results effectively.
Conclusions:
- GPs require enhanced support and training to effectively communicate abnormal NBS results for IMDs.
- The current system may not adequately equip GPs for this critical task, especially with expanding NBS panels.
- Exploring alternative communication tools and strategies is recommended to improve parental understanding and satisfaction.
Abstract:
Newborn screening (NBS) for inherited metabolic diseases (IMD) aims to find children in which immediate action can prevent severe symptoms. We previously studied parental satisfaction with the communication of the NBS result for phenylketonuria, which in the Netherlands is done by the general practitioners (GPs). More than half of all parents were unsatisfied with the communication of the abnormal NBS result. The aim of this qualitative exploratory study was to portray a number of GPs' opinions and experiences in communicating an abnormal metabolic NBS result. We performed semi-structured interviews with ten GPs to evaluate the process of communicating the abnormal NBS result. An additional two GPs provided their answers via email. The data revealed four key themes: (1) dealing with the urgency of the metabolic NBS result, (2) the role of the GP in the NBS process, (3) the current organization of NBS in the Netherlands and (4) evaluating roles and responsibilities in communicating abnormal metabolic NBS results. Despite the willingness of GPs to inform parents about NBS results, it is questionable whether they have the necessary tools to effectively conduct these conversations given their limited experience with IMDs. In light of the increasing number of diseases in the NBS program, it would be interesting to explore alternative tools for communicating the NBS result to parents.
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