RB1 genetic testing as a clinical service: a follow-up study

Area of Science:

• Oncology
• Genetics
• Ophthalmology

Background:

• Clinical genetic testing for inherited cancer predisposition is a growing service.
• Retinoblastoma (RB1) genetic testing is available for families with hereditary retinoblastoma.
• This study evaluates the long-term impact of RB1 genetic testing on families.

Purpose of the Study:

• To assess the feasibility of long-term follow-up studies for families undergoing genetic testing.
• To evaluate the long-term effects and satisfaction levels associated with RB1 genetic testing.
• To identify factors influencing decisions regarding genetic testing.

Main Methods:

• A follow-up study surveyed 52 of 71 eligible families 3-10 years after RB1 genetic testing.
• Families had a proband with unilateral, non-familial retinoblastoma (12% pre-test probability of hereditary retinoblastoma).
• RB1 testing identified mutations in 5 patients, lowered carrier probability in 21, and did not significantly alter it in 26.

Main Results:

• Medical specialists' recommendations were the primary driver for testing decisions.
• Most participants reported satisfaction and perceived benefits from genetic testing, irrespective of results.
• Families with a reduced likelihood of hereditary retinoblastoma reported more positive outcomes.
• Parents of RB1 carriers were more likely to seek medical services, experience worry, and opt against further children.

Conclusions:

• Follow-up studies of families who have undergone genetic testing are feasible.
• Genetic information and counseling are crucial components of RB1 clinical genetic testing.
• Long-term adverse effects associated with RB1 genetic testing appear uncommon.