为患有遗传性癌症综合征风险的患者建立一个专门的级联测试诊所
Michelle F Jacobs1,2, Erika S Koeppe3, Colby L Chase1,2
1Division of Genetic Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA.
Journal of genetic counseling
|October 25, 2023
概括
实施专门的布测试诊所显著减少了基因测试预约的等待时间,改善了遗传疾病家庭的访问,并优化了遗传咨询师的效率.
科学领域:
- 医学遗传学 医学遗传学
- 临床操作 临床操作
- 公共卫生 公共卫生
背景情况:
- 对遗传性疾病的级联测试未得到充分利用.
- 专业遗传学诊所的长时间等待是基因检测的障碍.
- 一家癌症遗传学诊所的例行转诊平均等待时间为5个月.
研究的目的:
- 通过减少患者等待时间,改善对级联测试的准入.
- 为了优化利用遗传咨询师的时间.
- 实施和评估一个专门的布测试诊所 (CTC).
主要方法:
- 建立了一个专门的布测试诊所 (CTC),提供快速分组和独特的调度.
- 在CTC和新患者诊所 (NPC) 之间比较等待时间,没有出现/取消率和患者数量.
- 收集了诊所人员和预约时间修改的提供者反.
主要成果:
- 平均等待时间从144天 (NPC) 减少到46天 (CTC) (p < 0.0001).
- 没有出现/取消/重新安排的比率从29.7% (NPC) 降至11.7% (CTC) (p < 0.0001).
- 遗传咨询师在CTC中每次半日诊所的患者数量是NPC的两倍 (p < 0.00001).
结论:
- 一个专用诊所模型显著缩短了级联测试等待时间.
- 这种模式减少了患者的退学率,并提高了临床医生的效率.
- 对于具有直接基因检测指示的患者来说,加快预约是可行的.
更多相关视频
05:58Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
Published on: August 20, 2018
10.9K
10:27Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts
Published on: July 25, 2020
7.3K
相关概念视频
Cancer
Cancers arise due to mutations in genes involved in the regulation of cell division, which leads to unrestricted cell proliferation. Modern science and medicine have made great strides in the understanding and treatment of cancer, including eradicating cancer in some patients. However, there is still no cure for cancer. This is largely due to the fact that cancer is a large group of many diseases.
Cancer Prevention
Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Some...
Combination Therapies and Personalized Medicine
Combining two or more treatment methods increases the life span of cancer patients while reducing damage to vital organs or tissue from the overuse of a single treatment. Combination therapy also targets different cancer-inducing pathways, thus reducing the chances of developing resistance to treatment.
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
Cancer-Critical Genes II: Tumor Suppressor Genes
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
Cancer-Critical Genes II: Tumor Suppressor Genes
Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
When the function of certain critical genes, especially those involved in cell cycle regulation and cell growth signaling cascades, gets disrupted, it upsets the cell cycle progression. Such cells with unchecked cell cycles start proliferating uncontrollably and eventually develop into tumors.
Such genes that act...
