使用快速筛检问卷确认有遗传性癌症风险的妇女


  【24drs.com】新研究显示,检测会引起5%至10%各种癌症的已知基因可能须耗费数千美元,但是,一份有关家庭史的六个项目问卷可以帮助确认哪里些妇女需要检测。
  
  亚特兰大Georgia肿瘤研究与教育中心Alice Kerber, MN, APRN表示,遗传性风险并不一定是显而易见的。
  
  举例来说,如果祖母在19岁时诊断有癌症且依旧存活,那或许是子宫颈癌而非卵巢癌。她解释,卵巢癌在B-RST风险评估问卷中衬托出警讯。
  
  Kerber参与了「Community Hereditary Data Collection Project」这项计画,此计画由格鲁吉亚乳癌基因健康协会与格鲁吉亚卫生部发起,目的是改善乳癌照护,以及为缺医少药、保额不足、无保险的人提供遗传咨询。
  
  该计画接触了那些可能无法进行筛检的妇女,将问卷评估为高风险者转介进行遗传检测。若无保险,根据检测项目,遗传检测须花费400到4000美元。
  
  关于遗传性癌症的教育是不可少的,尤其是在缺医少药的社区。Kerber表示,它可以是可怕的,检测可以告诉你是否可能罹患癌症-攸关规划后续步骤。
  
  为期3年的这项计画的结果,以墙报方式发表于在圣安东尼奥举办的2016年肿瘤护理协会年度研讨会。
  
  这项计画训练了格鲁吉亚地区的13所初级和社区健康照护中心的员工,进行需时仅5分钟的B-RST筛检。
  
  Kerber解释,我们认为,一个不错的起点就是公卫部门和家庭计划诊所。这些是目标年龄组的妇女和弱势族群最容易前往的地点。
  
  在研究期间,使用B-RST筛检了5,434名年龄18-49岁妇女的乳癌与卵巢癌家族史;筛检结果阳性的287名(5%)妇女被转介给遗传专家进行追踪。
  
  这些妇女中,227人(79%)同意被追踪,其中173人完成详细的家族史资料搜集且提供咨询给她们。
  
  这些妇女中有40人被转介进行更进一步的咨询与检测,有1名妇女确认BRCA2突变,4名妇女有不确定意义的一个变化,其它35名妇女没有发现突变。
  
  Kerber报告指出,BRCA2检测阳性的妇女目前并无癌症,她状况良好,没有准备进行缩胸。
  
  3年计画结束时,9名妇女被诊断有乳癌。Kerber表示,这9人都有被治疗且存活,她们没有BRCA1或BRCA2基因突变。
  
  这项计画是在Angelina Jolie发布新闻宣称她发现她带有BRCA1基因(意指她有87%的乳癌风险和50%的卵巢癌风险)后即进行了预防性乳房切除术之前几个月开始。
  
  Kerber表示,Jolie在2013年的这项宣称的时机,大幅强化了对此计画的理解,同年,美国预防服务工作小组建议使用B-RST筛检,进一步证实了这项操作。
  
  事实上,2013年和2014年是变化的主要驱动力,我会谈的每个妇女都听过Angelina Jolie的事情。
  
  格鲁吉亚Lawrenceville Gwinnett医学中心Cindy Snyder, DNP表示,对所有照护者来说,B-RST是用来筛检妇女乳癌与卵巢癌风险的极佳工具。
  
  Snyder医师表示,她对格鲁吉亚这项计画搜集的资料印象深刻,但也指出,在公卫中将这项目纳入作为例行筛检又是另外一回事。因为基层照护提供者已经面临要进行多种检查的挑战,再多做一件事情更是个挑战。
  
  不过,她说,她相信值得教育初级照护者和患者讨论这些。Snyder医师解释,当你告诉妇女她有这突变时,她需要咨询和相关信息以决定后续决策。
  
  3年计画结束时,格鲁吉亚开始执行全州计画,在公立和社区健康中心用B-RST问卷筛检妇女并记录遗传资料。Kerber报告指出,截至目前,该项目已从原本的7个县扩大到33个县。
  
  资料来源:http://www.24drs.com/
  
  Native link:Fast Screen Identifies Women at Risk for Hereditary Cancers

Fast Screen Identifies Women at Risk for Hereditary Cancers

By Ingrid Hein
Medscape Medical News

Testing for genes known to cause 5% to 10% of all cancers can cost thousands of dollars, but a simple six-item family history questionnaire can help identify women who should be tested, new research shows.

Hereditary risks are "not always obvious," said Alice Kerber, MN, APRN, from the Georgia Center for Oncology Research and Education in Atlanta.

"For example, if grandma was diagnosed with cancer at 19 and she's still alive, it was probably cervical, not ovarian, cancer," she told Medscape Medical News. Ovarian cancer sets off alarm bells in the B-RST risk-assessment questionnaire, she explained.

Kerber was involved in the Community Hereditary Data Collection Project, initiated by the Georgia Breast Cancer Genomic Health Consortium and the Georgia Department of Health to improve access to cancer care and genetic counseling for underserved, underinsured, and uninsured individuals.

The project reached women who might not otherwise have access to screening. Those identified as high risk by the questionnaire were then given access to genetic testing. Without insurance, genetic testing can cost from $400 to $4000, depending on the tests required.

Education about hereditary cancers is essential, especially in underserved communities. "It can be scary," Kerber said. "Testing tells you if you're going to get cancer or not — it's about planning next steps."

Results from the 3-year project were presented in a poster at the Oncology Nursing Society 2016 Annual Congress in San Antonio.

Staff at primary and community health centers in 13 Georgia primary and community healthcare centers were trained to administer the 5-minute B-RST screen.

"We thought a good place to start was with the Department of Public Health and family planning clinics," Kerber explained. This is where women in the target age group and minorities were easiest to access.

During the study period, B-RST was used to screen 5434 women 18 to 49 years of age for family history of breast and ovarian cancer.

The 287 (5%) women with a positive screen were referred to a genetic specialist for follow-up.

Of these women, 227 (79%) agreed to follow-up contact, 173 of whom completed a detailed family history collection and were provided counseling.

Forty of these women were referred for more in-depth counseling and testing. A BRCA2 mutation was identified in one woman and a variant of uncertain significance was identified in four. In the remaining 35 women, no mutation was identified.

"The woman who tested positive for BRCA2 does not have cancer at this point," Kerber reported. "She's still okay, and not ready for breast reduction."

At the end of the 3-year project, nine women had been diagnosed with breast cancer. "All nine have had treatment and are alive," Kerber told Medscape Medical News. "They did not have the BRCA1 or BRCA2 gene mutation."

The project was initiated just months before Angelina Jolie made news by announcing that she had undergone prophylactic mastectomy after finding out she carried the BRCA1 gene, meaning she had an 87% risk for breast cancer and a 50% risk for ovarian cancer.

The timing of Jolie's 2013 announcement boosted understanding of the project substantially, Kerber said. And the same year, the B-RST screening test was recommended by the US Preventive Services Task Force, further validating the work.

In fact, "2013 and 2014 were big drivers of change," she added. "All of the women I talked to had heard of Angelina Jolie."

"B-RST is a great tool for all providers to use to screen women at risk for breast and ovarian cancer," said Cindy Snyder, DNP, from the Gwinnett Medical Center in Lawrenceville, Georgia.

Dr Snyder Medscape Medical News that she is impressed by the data collection in Georgia, but pointed out that getting the tool implemented as part of routine screening in public health is another thing altogether. "Given the challenges that primary care providers have checking all the boxes, implementing one more thing might be a challenge," she said.

Nonetheless, she said she believes it is worth educating primary care practitioners to have these discussions with patients. "When you tell a woman she has this mutation, she needs counseling and information to make informed decisions for the future," Dr Snyder explained.

At the end of the 3-year project, Georgia began working to implement a state-wide program that screens women in public and community health centers with the B-RST questionnaire and documents hereditary data. As of now, the project has expanded to 33 counties — up from the original seven — Kerber reported.

Ms Kerber and Dr Snyder have disclosed no relevant financial relationships.

Oncology Nursing Society (ONS) 2016 Annual Congress: Poster E-39.

    
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