Menon U, Harper J, Sharma A, Fraser L, Burnell M, ElMasry K, Rodeck C, Jacobs I
Gynaecological Oncology, UCL Institute for Women's Health, 149 Tottenham Court Road, London, UK.
Hum Reprod. 2007 Jun;22(6):1573-7. doi: 10.1093/humrep/dem055. Epub 2007 Apr 11.
In May 2006, the UK Human Fertilization and Embryology Authority (HFEA) approved use of preimplantation genetic diagnosis (PGD) for lower penetrance, late onset cancer susceptibility syndromes such as hereditary breast and ovarian cancer (HBOC). This is the first report on views of BRCA gene mutation carriers on use of PGD for HBOC.
Between December 2005 and February 2006, a postal survey of BRCA mutation carriers attending a Familial Cancer Clinic was undertaken.
Of 102 women sent questionnaires, 52 (51%) responded. Thirty-nine (75%) felt it was acceptable to offer PGD for HBOC. Fifteen (37.5%) of 40 who had completed their families would personally have considered PGD if it had been available. Only one of seven (14%) contemplating a future pregnancy would consider PGD. Eighteen (35%) wrote extensively about their concerns including increasing availability of effective treatment and good quality of life.
The majority of BRCA gene mutation carriers are supportive of offering PGD to others, thus endorsing the HFEA decision. However, most women would not consider it personally. Concerns raised highlight the need for regular HFEA reviews of the licensing criteria, as HBOC may cease to be a "serious life threatening illness" in the future.
2006年5月，英国人类受精与胚胎学管理局（HFEA）批准将植入前基因诊断（PGD）用于低外显率、迟发性癌症易感性综合征，如遗传性乳腺癌和卵巢癌（HBOC）。这是首篇关于BRCA基因突变携带者对将PGD用于HBOC的看法的报告。
在2005年12月至2006年2月期间，对一家家族性癌症诊所的BRCA突变携带者进行了邮寄调查。
在102名收到问卷的女性中，52名（51%）做出了回应。39名（75%）认为为HBOC提供PGD是可以接受的。在40名已完成生育的女性中，有15名（37.5%）表示如果有PGD的话，她们个人会考虑使用。在7名考虑未来怀孕的女性中，只有1名（14%）会考虑PGD。18名（35%）详细阐述了她们的担忧，包括有效治疗方法的日益普及和良好的生活质量。
大多数BRCA基因突变携带者支持向他人提供PGD，从而认可了HFEA的决定。然而，大多数女性自己不会考虑使用。提出的担忧凸显了HFEA定期审查许可标准的必要性，因为未来HBOC可能不再是“严重危及生命的疾病”。
