A major goal of ABOUT is to learn from the HBOC community what are the most important unanswered medical question, prioritize the questions, determine which questions can be answered through ABOUT research, and develop research studies to answer them.
There is a strong interest from members of the community for more research to better pinpoint cancer risk with different mutations. Even for people with BRCA1 and BRCA2 mutations, which have been studied for over 20 years, risk assessment is not as accurate as people wish. This is even more apparent with newly identified mutations such as PALB2 and CHEK2 among others.
National guidelines (NCCN) recommend risk-reducing removal of the ovaries and tubes for women with a BRCA1 or BRCA2 mutation between the ages of 35-40 and when childbearing is complete. However there are no guidelines and little research on patient outcomes to guide decision-making around whether or not women should remove their uterus at the same time. Based on our ABOUT engagement survey, about ½ of women with mutations remove their uterus and the other half do not. This study would look at the long-term outcomes and satisfaction level for women with mutations with and without hysterectomy to determine which option leads to the best outcomes for which patients.
Some research has suggested that the BRCA gene may help repair damage to cardiac cells. Anthracyclines are potent chemotherapy agents used to treat many breast cancers but have been linked to heart damage. This has led to researchers studying whether women with BRCA mutations are more prone to the heart damaging effects of these agents. Preliminary research has shown mixed results. This study could confirm whether or not a BRCA mutation makes people more sensitive to the heart damaging effects of these drugs. If proven, this could affect choice of chemotherapy for breast cancer in women with mutations.
Blood relatives of people with BRCA mutations meet national guidelines for testing. Health care providers are limited in their ability to reach out to relatives of patients due to HIPPAA, putting increased pressure on patients who test positive to contact their relatives. Cascade testing – where one member who tests positive for a mutation notifies relatives – is considered an effective way to improve uptake. Currently about 30% of people who meet national guidelines undergo testing for BRCA. This proposal would use our PaGeMe rubric to develop patient generated messaging to help people speak to relatives about genetic testing and navigate them through the testing process.
Like women, men can inherit BRCA mutations. NCCN guidelines recommend genetic counseling and testing for men with a personal or family history suggestive of HBOC. Men with BRCA mutations can pass their mutation on to sons or daughters. Each child has a 50% chance of inheriting their father's mutation. Men who inherit a BRCA mutation have an increased lifetime risk for certain cancers which is higher than the average man, but not as high as women with mutations. Despite this information, a small number of men who meet guidelines undergo genetic risk assessment.
There is broad agreement among experts that women with very high risk for ovarian cancer should undergo risk-reducing removal of their ovaries and fallopian tubes (also known as risk-reducing salpingo-oophorectomy, or RRSO), the timing of surgery depends on the genetic mutation. High risk women who are not ready to undergo surgery are sometimes followed with high risk screening consisting of CA125 and transvaginal ultrasound. These tests are not very accurate; false positive/negative tests are common. Even with screening, most women who develop ovarian cancer are not found at an early enough stage to improve their survival. Newer tests have been developed to try to detect ovarian cancer at an earlier stage. These tests have not been studied for screening of high risk women. This research questions proposes designing a study to see if the addition of a new blood test to current screening guidelines improves early detection of ovarian cancer.
In 2006 the Institute of Medicine issued a report recommending that all cancer patients receive an individualized survivorship care plan at the completion of treatment with recommendations for monitoring and maintaining their health and wellbeing. These plans vary across health care facilities. Some of the survivorship plans include information about genetic counseling and testing. The question proposed would compare whether patients who receive information about recommendations about genetic services in their survivorship plan have higher rates of genetic testing that those who do not receive this information.
Genetics is a rapidly advancing area of science and medicine. Genetic testing has become more complicated with the discovery of new genes that affect cancer risk. Guidelines recommend that people speak with trained experts known as genetic counselors before undergoing genetic testing. As the cost of genetic testing has decreased, more people are turning to health care providers without expertise in genetics for information about genetic testing and medical options for managing risk. There is a lack of research on the quality of the information and the amount of misinformation that health care providers are sharing with patients with regards to cancer genetic testing, and the best ways to assure that health care providers are following recommended national guidelines.
Despite increasing uptake of genetic testing due to more awareness, more access to testing and lowered cost of testing, only a small percentage of men who meet guidelines actually undergo genetic testing. This research would look at whether messaging developed and delivered by patients improves uptake of genetic counseling and testing by men who meet national guidelines.
ABOUT's patient-driven research process, known as "GAP360" takes unanswered medical questions submitted by the community and turns them into well-defined research questions that can be answered through ABOUT research. GAP stands for Generate, Assess, Prioritize, Plan, Perform, and Publish — the steps that are involved in this process.
Submit your research questions
ABOUT is a Patient-Powered Research Network in PCORnet®, the National Patient-Centered Clinical Research Network, an initiative funded by the Patient-Centered Outcomes Research Institute (PCORI).
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