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Metastatic breast cancer research initiative benefits from direct-to-patient recruitment
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CHICAGO — A direct-to-patient-approach rapidly identified a large number of patients with metastatic breast cancer willing to share tumor and saliva samples and medical records to accelerate research, according to data presented at the ASCO Annual Meeting.
Patients recruited through this approach included many with rare phenotypes, a group difficult to identify through traditional approaches, according to the researchers.
Nikhil Wagle
“An estimated 150,000 women and men in the United States are living with metastatic breast cancer,” Nikhil Wagle, MD, assistant professor of medicine at Harvard Medical School, physician at Dana-Farber Cancer Institute, and associate member of the Broad Institute, said during a press conference. “The median survival is about 3 years, and more than 40,000 people die annually, accounting for 7% of all U.S. cancer deaths. Although treatments are improving, metastatic breast cancer is currently not curable. In order to make advances in our understanding of metastatic breast cancer, we need to be able to study tumor specimens — ideally, tumor specimens that are linked to clinical information.”
The majority of patients with metastatic breast cancer are treated at community medical centers, which has impeded genomic research of the condition.
Wagle and colleagues initiated The Metastatic Breast Cancer Project, a nationwide study that encouraged patients to share samples and medical records in an effort to hasten research.
The researchers collaborated with patients and advocacy groups to develop a website allowing patients located across the United States to participate. Enrolled patients received a saliva kit and were asked to return a saliva sample to extract germline DNA.
The researchers then contacted the participants’ medical providers to obtain medical records and tumor biopsy samples. They used biopsy samples and the extracted germline DNA to perform whole-exome and transcriptome sequencing, with clinically annotated genomic data used to identify mechanisms of response and resistance to therapies.
The collected data has been dispersed widely among researchers, with discoveries regularly shared with study participants.
In the 7 months since recruitment commenced, more than 2,000 participants have responded, representing all 50 U.S. states.
A total of 1,227 participants enrolled in the first 3 months; 96% (n = 1,178) of these initial participants completed a 16-question survey about their cancer and treatments.
Respondents had a median age of 54 years (range, 25-91) and a median time from initial diagnosis to metastasis of 2 years. A total of 424 patients received a diagnosis of de novo metastatic breast cancer.
Eighty-seven percent (n = 1,022) of patients reported undergoing a biopsy at or following their diagnosis of metastatic disease.
Eighty-seven respondents reported having metastatic breast cancer for more than 10 years. The median time from metastatic diagnosis for the entire cohort was 3 years.
Thirty-seven percent (n = 436) of respondents reported being on therapy for more than 2 years, with 57% (n = 672) reporting an “extraordinary response” to therapy. Long and/or extraordinary response occurred among 77 participants treated with capecitabine, 44 participants treated with platinum therapies and 20 participants treated with everolimus (Afinitor, Novartis).
Genomic analysis of patients reporting extraordinary responses, as well as those diagnosed with de novo metastatic breast cancer, are underway.
Initial medical records, tumor samples and saliva have been received.
“Partnering directly with patients through social media enables the rapid identification of thousands of patients willing to share tumor and saliva samples and medical records in order to accelerate research,” Wagle said. “In particular, this study enables the opportunity to study rare patients like exceptional responders, who are otherwise challenging to identify through traditional approaches. We intend this to be a shared resource for all researchers, so that all clinical and genomic data generated will be shared widely. We hope that this proof-of-concept study will serve as a model for patient-driven research in other cancer types.” – by Cameron Kelsall
Reference:
Wagle N, et al. Abstract LBA1519. Presented at: ASCO Annual Meeting; June 3-7, 2016; Chicago.
Disclosure: The Broad Institute funded this study. Wagle reports stock and other ownership interests with Foundation Medicine. Please see the abstract for a list of all other researchers’ relevant financial disclosures.
Perspective
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Hatem Soliman, MD
My initial impression of the study and project is generally positive. We want to do more of this type of data collection, in which we are trying to learn more from our patients. An important fact is that the majority of our patients are cared for in the community, not at academic centers; so there is a large untapped resource not only in the United States, but also globally. This data can help us understand what our patients are going through and what type of responses they are receiving from their treatments. Furthermore, being able to understand the biological underpinning of those types of responses or nonresponses is critical to be able to better treat our patients and develop new therapies going forward.
It is especially important for patients to give saliva samples and germline data because doing tumor genetic analysis alone can be misleading in terms of whether there is an actual mutation that is clinically relevant. It is always helpful to have germline DNA and compare it to tumor DNA to weed out the false positives.
The caveat with these types of efforts is that the resource is only as good as the data going into it. When dealing with patient-reported outcomes or with potential classifications of benefit from therapy, we have to be vigilant about verifying the information as much as possible to ensure accuracy. This way, you can have a resource that is actually useful for researchers to “mine the data” appropriately.
It is also important for patients to update their profiles in the system to give us more of a longitudinal idea of how they are doing over time. This is a challenging of patient-driven efforts, because information in the database is not always being updated on a regular basis. This could be a limitation, but if they had a way to do this it could be very useful and make the dataset potentially even more beneficial for researchers.Perspective
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Lajos Pusztai, MD, DPhil
The Metastatic Breast Cancer Project is a groundbreaking idea, and it changes the paradigm of how we can collect tissue or access health information from patients who are willing to donate their tissue or their information for research. The traditional approach has been very inefficient and prevents many patients who want to participate in studies from doing so, because they do not have access to a health care provider who would put them on a study. This project has proven that we can take research into the 21st century by providing broad access through social media.
Of course, this is not an interventional study, but rather a way to learn from experiences and learn about genomic backgrounds and perhaps try to correlate that with outcomes. The concept is fascinating, and the study has demonstrated that it is feasible and well received. To be able to draw over 1,000 patients in 3 months, and receive many specimens, is a remarkable result. When the tissue analysis is actually performed, we will see what we can glean from this approach to research. I think there will be certain types of studies, benefitting certain diseases, that will benefit from this type of “crowdsourcing” approach.
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Sumanta K. Pal, MD
We glean a lot from patients who have had a unique and uncharacteristic response to therapy, such as patients with advanced cancer who have a complete remission lasting for many years. It is also helpful to understand the biology of patients with distinct ethnicities, or those at the extremes of age. Many of these patients are treated in the community setting, making it challenging to obtain specimens. This program bridges that gap and offers patients a seamless way, through social media and other platforms, to provide their clinical information and specimens.
If this paradigm continues to enjoy the same success it has thus far, with incredibly rapid enrollment, the patient-driven model could be implemented across disease types.
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