Gaff C L, Rogers M T, Frayling I M
Department of Medical Genetics, Cardiff University, Cardiff, UK.
Clin Genet. 2007 May;71(5):400-5. doi: 10.1111/j.1399-0004.2007.00779.x.
Molecular pathological tests are performed on stored tumour material in order to identify individuals with hereditary non-polyposis colorectal cancer. We have previously identified that there is widespread use of this testing and now describe what counselling occurs prior to testing and the approaches in seeking consent. A respondent from every cancer genetic centre in UK offering microsatellite instability and/or immunohistochemistry testing (n= 20, response rate = 100%) was interviewed in order to ascertain pre-test counselling and consent protocols. Individuals providing consent are not always seen in person prior to providing consent but few services had supporting written information. Nine (of 19) consent forms documented consent to perform genetic testing, while the majority (14/19) sought consent to release pathology samples to the genetic service. Less than half of the services routinely seek consent to test samples from a deceased individual. Concerns were raised about spousal consent when the implications of results are for blood relatives. The differences identified between genetic counselling for testing of tumour tissue and for germ-line genetic testing suggest that counselling protocols specific for somatic testing should be developed. The results are discussed in the context of a changing legal environment and anticipated growing demand for testing.
为了识别遗传性非息肉病性结直肠癌患者，对储存的肿瘤材料进行分子病理学检测。我们之前已经确定这种检测方法被广泛使用，现在描述检测前的咨询情况以及寻求同意的方法。为了确定检测前咨询和同意方案，我们采访了英国每个提供微卫星不稳定性和/或免疫组织化学检测的癌症遗传中心的一名受访者（n = 20，回复率 = 100%）。提供同意的个体在提供同意之前并不总是亲自接受咨询，但很少有服务机构提供书面支持信息。19份同意书中有9份记录了进行基因检测的同意，而大多数（14/19）寻求同意将病理样本提供给基因服务机构。不到一半的服务机构常规寻求同意对已故个体的样本进行检测。当检测结果涉及血亲时，人们对配偶同意提出了担忧。肿瘤组织检测的遗传咨询与种系基因检测之间的差异表明，应该制定针对体细胞检测的咨询方案。我们将在不断变化的法律环境以及预期不断增长的检测需求背景下讨论这些结果。
