A privately held firm, initially interested in tracing ancestry, may hold the answer to future treatments for genetic diseases. 23andMe, a personal genomics and biotechnology company, with broad reach courtesy of the internet, partners with big Pharma and the Michael J. Fox Foundation to advance Parkinson’s research.
Scientists are investigating whether the earlier diagnosis of Parkinson’s disease (PD) could help identify those who will develop the disease before they are symptomatic. Age, environmental exposure, and certain genetic mutations can influence the risk of developing Parkinson’s. 23andMe and partners in research believe that identifying potential genetic and environment interactions could play a role in the development of Parkinson’s treatments.
Parkinson’s disease (PD) is a chronic neurodegenerative condition that affects nerve cells in the brain that control motor movement and other brain functions. Parkinson’s generally develops after age 60. By the time motor symptoms such as tremor and rigidity develop, the disease has generally progressed beyond the initial stage.
Started in 2006, 23andMe evaluated saliva samples of its clients to genotype their DNA in order to construct information about ancestry. Used to identify heredity origin and potentially to connect relatives, 23andMe collects DNA information on its clients. In 2017, the company expanded to offer enhanced health related services beyond ancestry identification to include the U.S. Food and Drug Administration (FDA) approved testing of information on genetic health risks and carrier status to detect markers of genetic diseases, including Parkinson’s.1 They presently have more than 5 million customers who have had their DNA analyzed for ancestral data.
23andMe and PD
In 2009, 23andMe launched an ongoing genetic study of Parkinson’s disease, which currently has more than 11,000 participants. The company took the position that genetic data will play a critical role in future research. Similar to the findings of other research studies around the world, executives believe that the role of genetics could further improve the ability to diagnose and treat Parkinson’s, potentially accelerating development of a cure.1
In 2015, Genentech invested $60 million in a deal with 23andMe for access to their data. The objective was to help identify new drug targets and therapies, including those for Parkinson’s disease.
The Michael J. Fox Foundation (MJFF) has collaborated with 23andMe to gather genetic information through the Fox Insight Platform. Using data from the research community collected from 2009-2017, researchers hope to identify new Parkinson’s specific genotype and phenotype information.4 The goals of gathering information from such a large population include:
Collecting real-life, patient-reported data
Building a community based on information, reducing barriers to research participation
Directing research to inform the scientific community in identifying unmet needs, therapeutic priorities, and advances in clinical trial design.
Some findings from the collaborations so far have been significant:
Identification of 27 new genetic variants associated with PD
Identification of new therapeutic targets for drug development
Understanding that genetics are involved in lysosomal and autophagy biology, that is, the way the body recycles and collects cellular debris (trash). This has provided insight into how cellular material may be damaged in people with Parkinson’s, contributing to development and progression of the disease.
Why the commitment
Anne Wojcicki is the co-founder and CEO of 23andMe. She has persisted in fostering a commitment to scientific research. In 2015, she started 23andMe Therapeutics whose focus is on developing new treatments and cures using genetic insights from the 23andMe customer population who has consented to allow access for the purpose of research.3 Her particular interest in Parkinson’s disease arises from the fact that her ex-husband Sergey Brin, the co-founder of Google, is a carrier of the mutation LRRK2 gene associated with Parkinson’s.
In July 2018, GlaxoSmithKline announced it would partner with 23andMe to use available DNA information to develop future drug treatments.3 GSK is investing $300M to further investigation into novel drug targets attributable to disease progression and subsequent development of targeted therapies. Previous collaborations led to the identification of the LRRK2 gene, which is linked to a small percentage of Parkinson’s cases.3,7
Additional research possibilities
Information from the 23andMe database could also lead to new opportunities in medical research including:4
Medical Records review – to explore medical records data to identify other potential information and uses in conjunction with the Parkinson’s community.
Microbiome Pilot Study – to evaluate how Parkinson’s alters gut bacteria.
Off-label Drug Use Survey – Insight from the Parkinson’s community on use and access to off-label drugs in treating Parkinson’s.
Genetic data available through 23andMe has been deeply analyzed by scientists. More than 100 papers have been published based on information gleaned from the database. Their testing currently has the ability to analyze about 35 genetic variants. In addition to analyzing Parkinson’s the information is also useful in identifying inherited risks for Alzheimer’s and Gaucher’s disease.2
It is important to remember that genetic testing can inform you of an increased risk for developing diseases like Parkinson’s, but cannot confirm whether you will develop a particular disease during your lifetime.
Parkinson’s disease research. Available at: https://www.23andme.com/pd/. Accessed 1.22.19.
U.S. OKs 23andME Testing the Public for Risk of Parkinson’s, Other Genetic Diseases. Available at: https://parkinsonsnewstoday.com/2017/04/10/fda-allows-23andme-to-provide-parkinsons-risk-test-to-public/. Accessed 1.24.19.
Geggel, L. 23andMe Is Sharing Genetic Data with Drug Giant. Available at: https://www.scientificamerican.com/article/23andme-is-sharing-genetic-data-with-drug-giant/. Accessed 1.24.19.
Henriques, C. Michael J. Fox Foundation, 23andMe to Jointly Advance Parkinson’s Disease Research. Available at: https://parkinsonsnewstoday.com/tag/23andme/. Accessed 1.14.19.
New Genetic Associations for Parkinson’s Disease Identified. Available at: https://blog.23andme.com/23andme-research/new-genetic-associations-parkinsons-disease-identified/. Accessed 1.24.19.
Molteni, M. 23andMe is digging through your data for a Parkinson’s cure. Available at: https://www.wired.com/story/23andme-is-digging-through-your-data-for-a-parkinsons-cure/. Accessed 1.25.19.
Shukla, LC, Parkinson's Disease and Genetic Testing - What You Need to Know. Available at: https://www.watersheddna.com/blog-and-news/parkinsons-disease. Accessed 1.24.19