Novel Genetic Findings for Myeloproliferative Neoplasms

Dave Hinds is a Principal Scientist in Statistical Genetics. 

23andMe is passionate about research on a group of rare blood disorders called myeloproliferative neoplasms, or MPNs. Physicians who study these disorders consider them to be blood cancers, though individual prognoses can vary widely — some people have shortened life expectancy while others live for decades. We recently reached our goal of enrolling 1,000 individuals into our MPN Research Initiative and are excited about the discoveries that are possible with such an amazing program.

Some of the first discoveries stemming from this initiative will be presented at the upcoming American Society of Human Genetics (ASHG) conference, this year hosted in San Francisco.

23andMe scientist David Hinds* will present results from a web-based study aimed at discovering new genetic variants associated with MPNs. In the first nine months after launching our study, 800 individuals with an MPN diagnosis supplied DNA by simply spitting into a tube. Although larger groups of patients are usually needed to produce meaningful results, we were still able to replicate known associations between inherited variants in the JAK2 gene and forms of MPN known as “JAK2 V617F-positive MPN”. (These genetic variants are reported to 23andMe customers in our MPN Preliminary Report).

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The results presented in this post demonstrate that web-based participation can contribute to genetic research for rare diseases, which are usually difficult to study because so few individuals have them. 23andMe offers a variety of ways for people with and without rare diseases to contribute to research — all it takes is a little bit of spit and the willingness to answer web-based questionnaires. What you get back is the knowledge that you’ve personally helped move science forward.

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The DNA from these same 800 individuals also allowed us to make new discoveries. Dr. Hinds will report a novel association between MPNs and a variant in the TERT gene, which codes for a protein called telomerase reverse transcriptase. Other variants in the TERT gene, which are highly correlated with the variant that we discovered, have been previously associated with a variety of cancers. This is an interesting finding because it suggests common biological pathways are involved in both MPNs and other cancers.

These findings are just the first of many to come from our MPN research initiative. We now have the largest broadly genotyped MPN cohort in the world and are excited to continue delving into the data. We’ll be sure to keep you posted along the way!

*This study is possible because of our collaborators and unpaid advisors to 23andMe’s MPN Scientific Advisory Board:
• Dr. Jason R. Gotlib, Associate Professor at Stanford
• Dr. Ruben A. Mesa, Director of the Acute and Chronic Leukemia Program and Chair of the Division of Hematology & Medical Oncology at the Mayo Clinic
• Dr. James L. Zehnder, Associate Professor of Pathology and Medicine (Hematology) at Stanford

Additional members of the 23andMe Research Team also contributed to this work.