Genetic services and attitudes in primary care pediatrics

Area of Science:

• Pediatrics
• Genetics
• Genomics
• Primary Care Medicine

Background:

• Primary care pediatricians (PCPs) are crucial for managing children with genetic conditions.
• Current practices, attitudes, and family history-taking methods of PCPs regarding genetic care are not well understood.

Purpose of the Study:

• To assess PCPs' current practices with genetic patients.
• To understand PCPs' attitudes toward genetic medical care.
• To evaluate PCPs' family history-taking choices for genetic patients.

Main Methods:

• An online survey was distributed to a national convenience sample of PCPs.
• Eighty-eight PCPs associated with the American Academy of Pediatrics' Quality Improvement Innovation Networks responded.
• Data on genetic test ordering, discussions, perceived competence, and family history practices were collected.

Main Results:

• 86% of PCPs ordered genetic tests three or fewer times annually.
• Only 13% frequently discussed genetic test risks/benefits/limitations.
• 49% felt competent in genetics/genomics care, unrelated to training or patient volume.
• 31% gathered three-generation family histories; EHRs often poorly supported this.
• PCPs noted care variations and a majority lacked confidence in genetic care.

Conclusions:

• Significant gaps exist in PCPs' genetic testing frequency, patient counseling, and perceived competence.
• Challenges in electronic health record (EHR) systems impede thorough family history documentation.
• Further research and enhanced integration of genetic medicine into primary care are essential for improving diagnosis and care for children with genetic disorders.