Epplein Meira, Koon Ksenia P, Ramsey Scott D, Potter John D
Cancer Prevention Program, Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA 98109-1024, USA.
J Clin Oncol. 2005 Jul 20;23(21):4713-8. doi: 10.1200/JCO.2005.00.133.
Anecdotal reports suggest that the volume of services offered to individuals concerned with hereditary cancer risk has increased substantially in recent years. As a follow-up to our 1993 survey, we sought to determine how the scope and volume of genetic services has changed between 1993 and 2002.
We surveyed the 61 National Cancer Institute-designated cancer centers in operation in 2002 using an updated version of the questionnaire from 1993. Analysis included frequencies and summary statistics.
The majority of cancer centers responding (46 of 56 centers; 82.1%) provided some genetic services for evaluation of familial cancer, which is a higher proportion than in 1993 (50%; P < .01). Almost all centers (42 of 46 centers; 91.3%) provided services not only to cancer patients and their families, but also to individuals concerned with risk, which is a change (P = .01) from 1993, when 64.7% of centers offered such services. In addition, increases have been found for most other measures of services rendered for familial genetic services.
As public awareness of cancer susceptibility genes has grown markedly in recent years, the demand has also grown for genetic services to assess familial cancer risk. Major deleterious genetic mutations are rare, and much of the current research in genetic variation focuses on higher prevalence variants that carry lower risks. This may suggest that testing for mutations will move from genetics clinics to primary care and specialty practices. Thus, it is unclear whether the scope and volume of cancer center genetics services will continue to grow as rapidly as they have over the last decade.
轶事报告表明，近年来为关注遗传性癌症风险的个人提供的服务量大幅增加。作为我们1993年调查的后续行动，我们试图确定1993年至2002年期间遗传服务的范围和数量发生了怎样的变化。
我们使用1993年调查问卷的更新版本，对2002年运营的61家美国国立癌症研究所指定的癌症中心进行了调查。分析包括频率和汇总统计数据。
做出回应的大多数癌症中心（56个中心中的46个；82.1%）提供了一些用于评估家族性癌症的遗传服务，这一比例高于1993年（50%；P <.01）。几乎所有中心（46个中心中的42个；91.3%）不仅为癌症患者及其家属提供服务，还为关注风险的个人提供服务，这与1993年有所变化（P =.01），当时64.7%的中心提供此类服务。此外，在为家族性遗传服务提供的大多数其他服务指标方面也有所增加。
近年来，随着公众对癌症易感基因的认识显著提高，对评估家族性癌症风险的遗传服务的需求也在增加。主要的有害基因突变很少见，目前关于基因变异的许多研究都集中在患病率较高但风险较低的变异上。这可能表明，突变检测将从遗传学诊所转移到初级保健和专科实践中。因此，目前尚不清楚癌症中心遗传服务的范围和数量是否会继续像过去十年那样快速增长。
