亞特蘭大Georgia腫瘤研究與教育中心Alice Kerber, MN, APRN表示,遺傳性風險並不一定是顯而易見的。
  Kerber參與了「Community Hereditary Data Collection Project」這項計畫,此計畫由喬治亞乳癌基因健康協會與喬治亞衛生部發起,目的是改善乳癌照護,以及為缺醫少藥、保額不足、無保險的人提供遺傳諮詢。
  這項計畫是在Angelina Jolie發布新聞宣稱她發現她帶有BRCA1基因(意指她有87%的乳癌風險和50%的卵巢癌風險)後即進行了預防性乳房切除術之前幾個月開始。
  事實上,2013年和2014年是變化的主要驅動力,我會談的每個婦女都聽過Angelina Jolie的事情。
  喬治亞Lawrenceville Gwinnett醫學中心Cindy Snyder, DNP表示,對所有照護者來說,B-RST是用來篩檢婦女乳癌與卵巢癌風險的極佳工具。
  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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