Digital innovation for cancer risk assessment allows large-scale service redevelopment of regional cancer genetics service delivery.

IF 2 4区 医学 Q3 GENETICS & HEREDITY Familial Cancer Pub Date : 2024-11-01 Epub Date: 2024-07-01 DOI:10.1007/s10689-024-00407-x
Alice Youngs, Andrea Forman, Marisa Elms, Kelly Kohut, Min Theik Hlaing, John Short, Helen Hanson, Katie Snape
{"title":"Digital innovation for cancer risk assessment allows large-scale service redevelopment of regional cancer genetics service delivery.","authors":"Alice Youngs, Andrea Forman, Marisa Elms, Kelly Kohut, Min Theik Hlaing, John Short, Helen Hanson, Katie Snape","doi":"10.1007/s10689-024-00407-x","DOIUrl":null,"url":null,"abstract":"<p><p>Family-history assessment can identify individuals above population-risk for cancer to enable targeted Screening, Prevention and Early Detection (SPED). The online patient-facing cancer Family History Questionnaire Service (cFHQS) is a digitalised, resource efficient tool for family history data capture to facilitate this. The capturing of digital data from cFHQS allows for data interrogation of patients referred to Clinical Genetics for the purposes of service improvement. Digital data from 4,044 cFHQS respondents over a three-year period was collected and interrogated with respect to the number and type of familial tumour diagnoses to enable service improvement and streamlining of referral pathways. 81% of colorectal and 71% of breast screening assessments were population- or moderate-risk. Most patients who completed cFHQS reported more than one diagnosis of cancer/tumour/polyps in their family. 2.5% of family history assessment patients had a second indication that required assessment that would have been missed if single tumour type assessment was undertaken. Implementation of an innovative, digital family history data collection pathway has allowed large scale interrogation of referral patterns and assessment outcomes to enable service development. The high volume of inappropriate referrals to Clinical Genetics for population and moderate risk patients highlighted the need for dedicated secondary care pathway provision for these patients. The use of cFHQS streamlined family history assessment allows for redistribution of resources to improve equity and access to genetic cancer risk assessment.</p>","PeriodicalId":12336,"journal":{"name":"Familial Cancer","volume":" ","pages":"591-598"},"PeriodicalIF":2.0000,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11512827/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Familial Cancer","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s10689-024-00407-x","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/7/1 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0

Abstract

Family-history assessment can identify individuals above population-risk for cancer to enable targeted Screening, Prevention and Early Detection (SPED). The online patient-facing cancer Family History Questionnaire Service (cFHQS) is a digitalised, resource efficient tool for family history data capture to facilitate this. The capturing of digital data from cFHQS allows for data interrogation of patients referred to Clinical Genetics for the purposes of service improvement. Digital data from 4,044 cFHQS respondents over a three-year period was collected and interrogated with respect to the number and type of familial tumour diagnoses to enable service improvement and streamlining of referral pathways. 81% of colorectal and 71% of breast screening assessments were population- or moderate-risk. Most patients who completed cFHQS reported more than one diagnosis of cancer/tumour/polyps in their family. 2.5% of family history assessment patients had a second indication that required assessment that would have been missed if single tumour type assessment was undertaken. Implementation of an innovative, digital family history data collection pathway has allowed large scale interrogation of referral patterns and assessment outcomes to enable service development. The high volume of inappropriate referrals to Clinical Genetics for population and moderate risk patients highlighted the need for dedicated secondary care pathway provision for these patients. The use of cFHQS streamlined family history assessment allows for redistribution of resources to improve equity and access to genetic cancer risk assessment.

Abstract Image

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
癌症风险评估的数字化创新使地区癌症遗传学服务得以大规模重新发展。
家族史评估可以确定癌症风险高于人群风险的个体,以便进行有针对性的筛查、预防和早期检测 (SPED)。面向患者的在线癌症家族史问卷调查服务(cFHQS)是一种数字化、资源高效的家族史数据采集工具,有助于实现这一目标。从 cFHQS 获取的数字数据可用于对转诊至临床遗传学的患者进行数据查询,以改善服务。在三年时间里,我们收集了 4,044 名 cFHQS 受访者的数字数据,并就家族性肿瘤诊断的数量和类型进行了分析,以改进服务并简化转诊途径。81%的结直肠癌和 71% 的乳腺癌筛查评估为人群风险或中度风险。大多数完成 cFHQS 的患者都报告了其家族中不止一次的癌症/肿瘤/息肉诊断。2.5%的家族病史评估患者有第二个需要评估的指征,而如果只进行单一肿瘤类型的评估,这些指征可能会被遗漏。通过实施创新的数字化家族史数据收集途径,可以对转诊模式和评估结果进行大规模分析,从而促进服务发展。人口风险和中度风险患者大量不适当地转诊至临床遗传学中心,这凸显了为这些患者提供专门的二级护理路径的必要性。使用 cFHQS 简化家族病史评估可重新分配资源,提高癌症遗传风险评估的公平性和可及性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
Familial Cancer
Familial Cancer 医学-遗传学
CiteScore
4.10
自引率
4.50%
发文量
36
审稿时长
6-12 weeks
期刊介绍: In recent years clinical cancer genetics has become increasingly important. Several events, in particular the developments in DNA-based technology, have contributed to this evolution. Clinical cancer genetics has now matured to a medical discipline which is truly multidisciplinary in which clinical and molecular geneticists work together with clinical and medical oncologists as well as with psycho-social workers. Due to the multidisciplinary nature of clinical cancer genetics most papers are currently being published in a wide variety of journals on epidemiology, oncology and genetics. Familial Cancer provides a forum bringing these topics together focusing on the interests and needs of the clinician. The journal mainly concentrates on clinical cancer genetics. Most major areas in the field shall be included, such as epidemiology of familial cancer, molecular analysis and diagnosis, clinical expression, treatment and prevention, counselling and the health economics of familial cancer.
期刊最新文献
Description of six cases of melanoma in 512 patients with germline pathogenic variants in the TP53 gene. Surgery in NF2-Schwannomatosis. Functional characterization of splice variants in hereditary breast and ovarian cancer susceptibility genes. "It's not any one thing, it's always all of them, all at the same time": quality of life in NF2-related schwannomatosis from patient and clinician perspectives. "Choosing the main character": healthcare professionals' attitudes towards counselling patients about risk disclosure to relatives in the era of mainstream cancer genetic testing.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1