[Referral criteria to clinical genetics from primary care: Consensus document]

Area of Science:

• Medical Genetics
• Primary Care Medicine
• Pediatrics

Context:

• Primary care serves as the initial point of patient-physician contact.
• Accurate identification and referral of potential genetic disorders are crucial in primary care settings.
• Existing guidelines for referral to clinical genetics services require synthesis for primary care application.

Purpose:

• To establish clear, consensus-based criteria for primary care physicians and pediatricians to suspect and refer patients with genetic diseases.
• To provide actionable recommendations for the referral process to clinical genetics services.
• To bridge the gap between primary care and specialized genetic services.

Summary:

• Four major Spanish scientific societies collaborated to review and synthesize existing referral guidelines.
• The societies developed consensus recommendations specifically for primary care (PC) settings.
• The document outlines when, how, and where primary care providers should refer patients with suspected hereditary or genetic conditions.

Impact:

• Empowers primary care physicians and pediatricians with the knowledge to manage potential genetic cases effectively.
• Facilitates timely and appropriate referrals, improving patient outcomes for hereditary and genetic pathologies.
• Streamlines the referral pathway to clinical genetics services, enhancing healthcare efficiency.