Carrier screening in preconception consultation in primary care

Area of Science:

• Genetics
• Reproductive Health
• Primary Care Medicine

Background:

• Carrier screening for inherited conditions is crucial for reproductive planning.
• Integrating preconception carrier screening into primary care offers significant benefits for patient autonomy and reproductive choices.
• Expanding screening beyond family history to common conditions enhances population health.

Purpose of the Study:

• To evaluate the advantages of discussing carrier screening during preconception consultations in primary care.
• To explore the experiences and outcomes of population carrier screening in primary care settings.
• To identify challenges and best practices for informed decision-making in carrier screening.

Main Methods:

• Review of published literature on carrier screening experiences in primary care globally.
• Focus on conditions like cystic fibrosis, haemoglobinopathies, fragile X syndrome, Tay-Sachs disease, and spinal muscular atrophy.
• Analysis of studies focusing on preconception versus during-pregnancy consultations.

Main Results:

• Population carrier screening in primary care is generally well-received by participants.
• Studies indicate minimal psychosocial harms associated with carrier screening.
• Challenges identified include providing adequate information for informed decisions and ensuring sustained health professional engagement.

Conclusions:

• Preconception carrier screening in primary care promotes autonomy and expands reproductive choices.
• Effective implementation requires addressing information delivery and health professional engagement.
• Further research and standardized approaches are needed for optimal population carrier screening programs.