Cascade carrier-testing in cystic fibrosis

Area of Science:

• Medical Genetics
• Genetic Counseling
• Public Health

Background:

• Recessive genetic disorders necessitate carrier testing and counseling for relatives to assess reproductive risks.
• Cystic fibrosis (CF) carrier testing has been available since 1989, with recommendations for testing relatives, not general population screening.
• Challenges exist in consistently offering and facilitating carrier testing for relatives of individuals with CF.

Purpose of the Study:

• To describe the implementation and outcomes of an active cascade program for cystic fibrosis carrier testing and counseling.
• To evaluate the effectiveness and user satisfaction of a dedicated service for relatives of CF patients.

Main Methods:

• An active cascade program offering genetic counseling and carrier testing to relatives and partners of CF patients was established.
• The service utilized dedicated staff, a specialist molecular genetics laboratory, and genetic counseling support.
• Target groups included child-bearing age couples/individuals, with discouragement for testing young children and post-reproductive age grandparents.

Main Results:

• The program demonstrated user satisfaction, with minimal reports of feeling pressured into testing.
• The experience of other centers with cascade testing in CF was summarized.
• Consideration is advised when initiating cascades for newborns identified through neonatal screening.

Conclusions:

• Active cascade testing programs are effective in providing genetic counseling and carrier testing to relatives of individuals with cystic fibrosis.
• Such programs can improve access to testing and support informed reproductive decision-making.
• Careful implementation is necessary, particularly concerning extended family members identified through neonatal screening.