Community-oriented, hospital level genetics: a new approach to improve access for underserved communities

Area of Science:

• Medical Genetics
• Public Health
• Community Medicine

Background:

• Certain populations face barriers to accessing genetic testing for genetic syndromes.
• Underserved communities often have limited healthcare resources, exacerbating disparities in genetic disorder diagnosis.

Purpose of the Study:

• To evaluate the effectiveness of a community-based pediatric genetics clinic model.
• To improve genetic testing access and outcomes for a high-risk population in Tayibe, Israel.

Main Methods:

• Established a community-based pediatric genetics clinic in Tayibe, staffed by a clinical geneticist.
• Referred children with suspected genetic conditions from consanguineous parents or families with multiple affected siblings.
• Collected blood samples during initial visits; tests were publicly funded, with no parental administrative burden.

Main Results:

• Assessed 30 children in the first year with zero patient loss to follow-up.
• Achieved a higher diagnostic rate (27.6%, or 42.9% excluding autism) compared to the hospital-based control group.
• Observed faster average time to test results and greater family adherence.

Conclusions:

• The community-oriented model proved successful, offering advantages over traditional hospital-based clinics.
• Key benefits include faster results, increased family adherence, higher diagnostic yield, and improved patient retention.
• This model shows promise for expanding genetic services to other underserved populations globally.