1 Department of Genetics, University of Leicester , United Kingdom .
J Palliat Med. 2013 Nov;16(11):1350-5. doi: 10.1089/jpm.2012.0583. Epub 2013 Sep 24.
Patients are commonly referred to cancer genetics services when all affected family members are deceased. This makes genetic testing and risk assessment more difficult, reducing the benefit from screening and prophylactic treatment.
Observational, retrospective, cohort study of 508 randomly selected patients referred to a regional cancer genetics unit, using review of case notes to explore whether a simple clinical "3, 2, 1" family history rule could have been used to improve timely and appropriate referrals for genetic assessment. The 3, 2, 1 criteria are: three affected relatives with the same/associated cancers, across two generations, with at least one person affected age <50 years.
Most (71% [362]) genetic risk assessment referrals were in unaffected individuals and 22% (80) of these were referred after all affected family members had died, including 24% (19) who lost their last remaining affected relative in the previous year. Most (59% [301]) referrals met all 3, 2, 1 criteria, and 67% of these could have been made earlier in clinical practice. A further 23% (115) met two of the three criteria.
Using a simple "3, 2, 1" family rule in cancer care and particularly in palliative care could enable earlier cancer genetic risk assessment for unaffected relatives, improving the potential to benefit from targeted screening and intervention.
当所有受影响的家庭成员都去世时，患者通常会被转介到癌症遗传学服务机构。这使得基因检测和风险评估更加困难，降低了筛查和预防性治疗的获益。
对 508 名随机选择的被转介到区域癌症遗传学单位的患者进行观察性、回顾性队列研究，通过病历回顾来探讨简单的临床“3、2、1”家族史规则是否可用于改善遗传评估的及时和适当转介。3、2、1 标准为：三代中有三个具有相同/相关癌症的受影响亲属，跨越两代，至少有一个人在 50 岁以下受到影响。
大多数（71%[362]）遗传风险评估转介是针对无影响个体的，其中 22%（80 人）是在所有受影响的家庭成员都去世后进行的转介，包括 24%（19 人）在去年失去了最后一个仍受影响的亲属。大多数（59%[301]）转介符合所有 3、2、1 标准，其中 67%的转介本可以在临床实践中更早进行。另有 23%（115 人）符合三个标准中的两个。
在癌症护理中，特别是在姑息治疗中使用简单的“3、2、1”家族规则，可以使未受影响的亲属更早地进行癌症遗传风险评估，提高通过针对性筛查和干预获益的潜力。
