Trottier M, Lunn J, Butler R, Curling D, Turnquest T, Royer R, Akbari M R, Donenberg T, Hurley J, Narod S A
Bahamas Breast Cancer Initiative Foundation, Nassau, Bahamas.
Department of Hematology and Oncology, Doctors Hospital, Nassau, Bahamas.
Clin Genet. 2015 Aug;88(2):182-6. doi: 10.1111/cge.12468. Epub 2014 Sep 6.
The prevalence of BRCA1 and BRCA2 mutations among unselected breast cancer patients in the Bahamas is 23%. It is beneficial to advise relatives of mutation carriers that they are candidates for genetic testing. Women who test positive are then eligible for preventive interventions, such as oophorectomy. It is not clear how often relatives of women with a mutation in the Bahamas wish to undergo genetic testing for the family mutation. Furthermore, it is not clear how best to communicate this sensitive information to relatives in order to maximize patient compliance. We offered genetic testing to 202 first-degree relatives of 58 mutation carriers. Of 159 women who were contacted by the proband or other family member, only 14 made an appointment for genetic testing (9%). In contrast, among 32 relatives who were contacted directly by the genetic counselor, 27 came for an appointment (84%). This study suggests that for recruitment of relatives in the Bahamas, direct contact by counselor is preferable to using the proband as an intermediary.
巴哈马未经过挑选的乳腺癌患者中，BRCA1和BRCA2基因突变的患病率为23%。建议携带突变基因者的亲属进行基因检测是有益的。检测呈阳性的女性随后有资格接受预防性干预措施，如卵巢切除术。目前尚不清楚巴哈马携带突变基因女性的亲属希望进行家族突变基因检测的频率有多高。此外，尚不清楚如何以最佳方式将这一敏感信息告知亲属，以最大程度提高患者的依从性。我们为58名携带突变基因者的202名一级亲属提供了基因检测。在先证者或其他家庭成员联系的159名女性中，只有14人预约了基因检测（9%）。相比之下，在基因咨询师直接联系的32名亲属中，有27人前来预约（84%）。这项研究表明，在巴哈马招募亲属时，由咨询师直接联系比通过先证者作为中间人更为可取。
