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23andMe Sarcoma Community: A Patient-Driven Revolution in Sarcoma Research

Q. Why is 23andMe doing sarcoma research?

A. 23andMe is interested in rare and orphan diseases because we believe that our unique research platform can be quite valuable for smaller patient communities that have difficulties recruiting people to participate in research. By combining a person's genetic information with our online questionnaires, our scientists are able to look for novel genetic associations regardless of patients' geographic location.

Q. How exactly does this type of research work?

A. The 23andMe Sarcoma Community combines the power of the Internet with genetic analysis in an unprecedented way. The saliva kit allows us to capture information about your genotype, and the questionnaires give us information about your environment and sarcoma history. By combining these two sources of information across a large group of people who have or have had sarcoma, we hope to find patterns that can help us better understand the disease and how best to treat it.

Q. There are already sarcoma researchers looking for genetic markers associated with the disease, and some have been found. How is this different?

A. Although some genetic markers have been identified, much about the genetics of sarcoma and response to different treatments remains unknown. 23andMe will look for novel genetic markers that increase susceptibility to sarcoma and affect response to common treatments, including risk for adverse events.

Q. Why study the genetics of sarcoma?

A. There are almost surely inherited genetic factors involved in sarcoma, but researchers do not have a good handle on these yet. Some mutations that cause cancer syndromes increase the risk for sarcoma. But unlike the BRCA1 and BRCA2 genes associated with greatly increased chances of developing breast cancer, there is no known "sarcoma gene." It is very likely, however, that there are common genetic variations that, in the right combinations and in the presence of the right environmental risk factors, can put someone at increased risk for developing a sarcoma. These are the kinds of variations that 23andMe research can find. Because we are also going to collect information about treatments and their efficacy, we may also find variations that are associated with one drug working better than another for people with certain genetic profiles

Q. Why do you need at least 1,000 people?

A. A large study sample gives us the power to make sure that any discoveries we make are true genetic associations with sarcoma that have a good chance of positively impacting sarcoma research as a whole. Studying too few people can lead to spurious findings that slow research down.

Q. Is 1,000 participants enough to draw useful conclusions? There are more than 50 sub-types of sarcoma!

A. Our scientists believe 1,000 participants can provide us with the information we need to start finding genetic markers that differentiate different types of sarcomas or genetic variations that impact response to treatment. If the sarcoma community responds enthusiastically to this program, it may become possible to apply for more funding and dig further into the various sarcoma subtypes.

Q. Who is compiling the data? Are they researchers?

A. 23andMe has a number of scientists on staff including bioinformaticists, survey design scientists and geneticists who will be doing the genetic analysis.

Q. Will the findings be published in scientific journals?

A. 23andMe intends to publish our results.

Q. In what way in this a revolution?

A. Recruiting participants for sarcoma studies is often difficult for individual centers. Collaboration between centers is possible, but this creates a lot of overhead, and lack of standardization often prevents data sets from being combined. 23andMe research, however, can happen anywhere, anytime. Because participants can register online, receive their sample collection kits by mail, and take surveys remotely, ours is a recruitment platform that is easily scalable.

Q. Does 23andMe know enough about sarcoma to do meaningful research?

A. For all of our research initiatives, 23andMe works with area-specific experts to design the study. In the case of sarcoma, Dr. Robert Maki, MD, PhD a sarcoma specialist, helped design the study to ensure its relevance and validity.