Using Social Media to Accelerate Genomic Research

A Conversation With Nikhil Wagle, MD

Get Permission

The success of using social media to push forward causes for social good was a driving factor in the launch this past October of the Metastatic Breast Cancer Project (MBC project), which aims to accelerate the understanding of what makes patients with metastatic breast cancer genetically unique. And in just 10 months, the study is already revealing some tantalizing clues.

Led and funded by the Broad Institute of the Massachusetts Institute of Technology (MIT) and Harvard and conducted in collaboration with Dana-Farber Cancer Institute, the MBC project is using Facebook, Twitter, and patient advocacy networks to find and inform patients with the disease about the study. Patients can then go to the MBC project website ( to enroll in the study.

Once there, patients are asked 16 questions about their cancer and treatment. After the researchers review the information, patients receive an online consent form allowing the researchers to obtain copies of the patients’ medical records and some of their stored tumor tissue. Consented patients are also sent a saliva collection kit for a saliva sample, which is used to extract germline DNA. Whole-exome and transcriptome sequencing is then performed on the tumor and saliva samples. The clinically annotated genomic data are then used to identify mechanisms of drug response and resistance to therapies.

Results from the first 7 months of the study were presented at ASCO’s 2016 Annual Meeting,1 and the investigators identified groups of rare patients who are challenging to study with traditional approaches, including exceptional responders (patients who experience a unique response to treatments that are not effective for most others), patients diagnosed at an early age (nearly 600 patients were diagnosed before age 40), and patients who were found to have metastatic disease at initial diagnosis.

After we launch the angiosarcoma study, we plan to launch studies in several other cancer types over the coming year. We are hoping to make this model of direct-to-patient study a more general paradigm for cancer research.
— Nikhil Wagle, MD

Tweet this quote

Currently, more than 2,000 men and women from the United States and Canada have enrolled in the MBC project, and 1,200 have consented to have their tumor and saliva sequenced. Results so far from the patient questionnaire show that the median time between the initial diagnosis of breast cancer and metastatic disease was 2 years, and 36% were diagnosed with de novo metastatic breast cancer. More than 85% reported having a biopsy at or following their diagnosis; more than 100 said they had been living with metastatic disease for more than 10 years; and over 600 had been on a therapy for longer than 2 years.

In perhaps the biggest surprise finding so far, more than 900 participants reported having an “extraordinary response” to a therapy. For example, 117 had long and/or extraordinary responses to capecitabine; 63, to platinum chemotherapies or PARP (poly [ADP-ribose] polymerase) inhibitors; and 35, to everolimus (Afinitor, Zortress).

According to Nikhil Wagle, MD, Assistant Professor of Medicine at Harvard Medical School; medical oncologist at Dana-Farber Cancer Institute; Associate Member of the Broad Institute; and lead author of the MBC project study, about 600 participants have sent in their saliva sample, and more than 100 medical records and 50 tumor samples have been collected to date. Genomic sequencing on the saliva and tumor tissue samples is now underway.

The ASCO Post talked with Dr. Wagle about the MBC Project and how this type of direct-to-patient study has the potential to increase patient participation in clinical trials and accelerate cancer research, especially in rare diseases.

Patients Interested in Research

Less than 5% of adults with cancer enroll in clinical trials. Why do you think there has been such a large and positive response to your study in just the few months since it was launched?

I think the response tells us that patients are interested in research and that the low number of less than 5% we always quote for clinical trial participation is probably not attributable to patients’ lack of desire to be involved in research. There is a lot of literature about why patient enrollment in clinical trials is low, but just from our experience with this study, we have noticed a couple of things. First, patients are not just being treated at big academic centers. They are being treated in community centers and in private practices, and it may not be easy for them to participate in a clinical trial. In this study, we focused on how we could make the enrollment process easy for patients. If there is a low barrier for enrollment, people will join a clinical study, at least that has been our experience.

Second, people might not understand what research is or what a clinical trial is, so we tried to make the process of stating the study’s goals and what patients had to do to participate simple to understand. Essentially, we said, “Give us permission to share your information with other researchers, and we’ll do all the work. We will get your tissue and your medical records and sequence your tumor, and you will help accelerate medical research.”

That is a powerful message, and something most people can relate to and understand without the scary parts of what it means to be in a clinical trial or worrying they are being guinea pigs or might get a placebo treatment. This model of using social media to engage patients to become our partners makes research more accessible to people.

Focus on Ethnic Diversity

The study is open to both men and women throughout the United States and Canada. Are people of all ethnicities/race and income levels participating in this project?

We didn’t ask about income level on the questionnaire and only know patients’ zip codes, so we have learned the parts of the country they live in. We do have information about ethnicity and race and have representation from a diverse group of people in this study. That said, patients who have been underrepresented in prior studies are underrepresented in our study as well.

The vast majority of patients who have enrolled to date are white, and that is something we have noticed. This finding does not surprise us, but we want to identify a way to broaden participation by diverse populations. Since we are using the Internet to recruit patients and are doing this study in partnership with patient advocacy groups, we are hoping to increase diversity in the cohort, and it is a focus of ours going forward.

Many Exceptional Treatment Responses

More than 600 patients in your study considered themselves “extraordinary” responders to therapies such as capecitabine, platinum chemotherapies, and everolimus. Is this finding surprising to you?

Yes, it is. By definition, having an extraordinary response to therapy is rare. Yet when we asked the question, “Were there any therapies that you responded to for more than 2 years?” a huge number said, “yes.” And when we asked the question, “Did any of these therapies make your cancer disappear completely or almost completely?” again a huge number said, “yes.” This is patient-reported information, and we have to check all the self-reported information against the patient’s medical records to ensure everything lines up before we can reach any definitive conclusion.

What is really interesting is that the patients who answered “yes” to that question told us what their actual response was and what the actual drug was, and many of them even told us the story of their exceptional response. When you look through the data, not a huge percentage of the group is saying they had an exceptional response to the same drug. If they had, it would make me suspicious that the result was not real. Instead, what the finding shows is that each different small group of people had an exceptional response to a specific drug, and if you add them all up, it turns out to be a huge number. We are basically identifying in aggregate different groups of people who might have had exceptional responses to specific drugs; then by studying each of those small little cohorts, we might be able to understand the biology of that response.

Building a Large Database

What have you learned about metastatic breast cancer from your study results so far?

From a biologic or therapeutic standpoint, it is a bit early to say, because the bulk of the data we have right now is epidemiologic and patient-reported, and we are still working on building the tumor and germline-sequencing data. Although we have patient-reported data, we have not yet completed the medical record abstractions, so the goal is by next year, we will have a large study database that includes clinical information, genomic information, and patient-reported data. Then we and other researchers can start to mine that information to learn more about metastatic breast cancer.

I would say right now the biggest lesson we have learned is that launching a project like this is feasible. If you build a project like this one and patients are interested, they will enroll. They will report detailed information about themselves, supply saliva and tumor tissue samples, and we can perform genomic sequencing of the samples regardless of where the patients live. And all that tells us this type of database can be generated, but to answer the questions about biology and novel treatment strategies, we need more time.

Learning About Biologic Differences

Although it is early in the process, are you learning any details about the biologic differences in breast cancer in men and women?

There have been other studies looking at the genomics of metastatic breast cancer in men, and those have suggested that although there are many similarities to the disease in women, there are some important differences in the disease in men, so this is something we are definitely interested in learning more about.

We are still in the process of enrolling patients and accumulating tissue, but that is something we hope to weigh in on soon. I think 6 months or a year from now, some of the questions about the biologic differences in the disease and what we are learning about the genomics of the tumors will be things we can talk more about.

Angiosarcoma Project

This model has been so successful, are you planning to launch other studies using social media to enroll patients with cancer?

Yes. We are now in the process of launching a second project in a rare cancer called angiosarcoma, which lends itself to this type of approach particularly well, as fewer than 300 patients are diagnosed with this disease every year. Angiosarcoma is a disease that no one institution has enough experience with to do a definitive biologic study. Using social media to accrue patients is a way to accumulate as many patients with angiosarcoma around the country and the world as possible and to do a larger study that the entire angiosarcoma community can benefit from.

After we launch the angiosarcoma study, probably sometime later this summer, we plan to launch studies in several other cancer types over the coming year. We are hoping to make this model of direct-to-patient study a more general paradigm for cancer research.

Open-Access Portal

A primary goal of the MBC project is to make the results accessible to other researchers. Do you have an open-access portal that researchers can use to find the study data you are accumulating?

We are in the process of building the portal now. Our hope is to have the first data from the study released by the end of this year, and then we will publish regular updates. We have a few different things planned. For example, one of our goals is to study how best to share the data. The open-access portal we are building will allow researchers to access our de-identified clinical and genomic data, so they can do their own research.

We are also planning on sharing the information with other data-sharing entities, including the National Cancer Institute’s Genomic Data Commons (, which is the perfect vehicle to house the genomic and clinical data we are generating. There are other organizations with the same data-sharing capabilities, so we will likely share our data with these other organizations as well.

I want to emphasize the important role patients and patient advocates are playing in making this type of research possible. We would not be as successful as we have been in just the few months since we launched this project if there were not a patient-driven movement to get patients enrolled. Patients have taken it upon themselves to spread the word about the study as well as promote it on social media or talk to other patients who have doubts about the study and explain the study’s goals.

The large response to our study has given us what we wanted: a social media movement that is driven by patients to accelerate cancer research. As this project evolves and we roll out other similar studies, we may try to use social media in other ways, perhaps to launch an interventional trial or other variations on studies that might accelerate cancer research. The possibilities are many. ■

Disclosure: Dr. Wagle is an equity holder in and consultant to Foundation Medicine. He also receives research support from and is a consultant to Novartis.


1. Wagle N, Painter C, Krevalin M, et al: The Metastatic Breast Cancer Project: A national direct-to-patient initiative to accelerate genomics research. 2016 ASCO Annual Meeting. Abstract LBA1519. Poster board 342.

Related Articles

The Metastatic Breast Cancer Project: Direct-to-Patient Research Initiative

A nationwide project is enlisting patients with breast cancer to share their tumor samples and clinical information. Launched in October 2015, the Metastatic Breast Cancer (MBC) Project has enrolled more than 2,000 patients from all 50 states and is yielding information that will be shared with...