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

✍ Scribed by Cohen, Jennifer G. ;Dryja, Thaddeus P. ;Davis, Katherine B. ;Diller, Lisa R. ;Li, Frederick P.

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 90 KB
Volume: 37
Category: Article
ISSN: 0098-1532
DOI: 10.1002/mpo.1213

No coin nor oath required. For personal study only.

✦ Synopsis

Background:

Genetic testing for inherited predisposition to diverse cancers has recently become available as a clinical service. we conducted a follow-up study of the initial series of us families who underwent rb1 genetic testing to evaluate long-term effects of the service.

Procedure:

We enrolled 52 of 71 eligible families who responded to a follow-up study questionnaire administered 3-10 years after receipt of their rb1 results. each family had one proband with unilateral, non-familial retinoblastoma, which is associated with a 12% pre-test probability of hereditary retinoblastoma. rb1 testing identified germline rb1 mutations in five patients, lowered the carrier probability to 2% in 21 patients, and did not substantially modify the carrier probability in the remaining 26.

Results:

Diverse medical specialists offered and arranged for rb1 testing, and their recommendation was the most influential factor in the decision to be tested. pre-test counseling was provided by ophthalmologists (30), oncologists (11), and geneticists and genetic counselors (11). most respondents, regardless of test result, were satisfied and perceived gains from their genetic testing. based on small numbers, families with reduced likelihood of hereditary retinoblastoma reported more positive outcomes. parents of rb1 carriers were more likely to seek medical services, worry, and decide against having more children.

Conclusions:

This study demonstrates the feasibility of follow-up studies of families who had genetic testing. results from our small series suggest that genetic information and counseling are important components of rb1 clinical genetic testing, and long-term adverse effects of testing are uncommon.

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