23andMe: The Science Behind the Headlines

23andMe hit the headlines recently as it launched its personal genome service in the UK. The service allows people to send in a saliva sample and be screened for inherited risk factors, ancestry and possible health conditions. Sonia Nicholas, SelectScience's Clinical Diagnostics Editor, spoke to Emily Drabant Conley, PhD, Director of Business Development and Research Scientist, to get the lowdown on the service, which allows people to access their own genetic information.

SN: Could you briefly outline the personal genome service that you offer?

ED: 23andMe is the leading personal genetics company dedicated to helping people access, understand and benefit from the human genome. The company's Personal Genome Service® enables individuals in the UK to gain deeper insights into their health and ancestry, along with traits that make them unique. 23andMe uses a technology called genotyping. Since all humans share 99.9 percent of their DNA, it is more efficient and cost effective to examine the specific variants known to inform differences in human health and ancestry, rather than capturing all six billion letters contained in the human genome. 23andMe offers more than 100 health and trait reports for UK customers, along with full genetic ancestry analysis. More information can be found here for health and here for ancestry.

SN: In which countries is the test currently available?

ED: The 23andMe Personal Genome Service is currently available in 50 countries. 23andMe health and trait reports are only available for customers in the UK, Ireland and Canada. Health and trait reports are not cleared by the FDA in the United States - US customers and any customer outside of the UK, Ireland and Canada can only receive ancestry results and raw, un-interpreted genetic data.

SN: What technology do you use to carry out your genetic analysis?

ED: 23andMe uses the Illumina HumanOmniExpress-24 format genotyping chip to probe for specific locations in the genome known to be informative to human health, genetic traits and ancestry. Samples for 23andMe have always been processed in a laboratory that adheres to CLIA (Clinical Laboratory Improvement Amendments) standards. We also have a variety of proprietary validation processes and quality controls that are applied to data before information is ever returned to a customer.

SN: Why did you choose the Illumina system for your analysis?

ED: The Illumina chip was chosen by 23andMe as it is widely used in academic and medical research, and physician-ordered tests. Furthermore, our chip consists of a fully custom panel of probes for detecting genetic variations selected by our researchers. The selection was made to maximize the number of health, trait and ancestry features available to customers, as well as offer flexibility for future research.

SN: What happens if you find out something significant about your client, something that is likely to have a significant impact on your client’s health? Are you obliged to tell them? Are they obliged to do anything with the results?

ED: A 23andMe test cannot diagnose disease, but it can reveal if you carry a recessive genetic variant for 43 inherited conditions such as cystic fibrosis, polycystic kidney disease and sickle cell anemia. The test can also reveal any of 11 genetic risk factors for certain diseases such as hereditary breast and ovarian cancer and Parkinson’s disease. 23andMe’s reports can tell you how your body might respond to 12 different drugs such as Warfarin and medications used to treat Hepatitis C and epilepsy. Our test can reveal 38 physical traits that you may share with your family such as earwax type, hair curl, pain sensitivity or Norovirus resistance. Finally, the test can provide a genetic analysis of your ancestry.

All results will be returned to customers along with supporting education about what has been revealed, and implications of the results. An example report for Sickle Cell Anemia can be seen here. For certain diseases (such as Parkinson’s or Alzheimer’s), customers have to pass an additional consent wall to access these results to provide freedom for them to change their mind. In line with the principles set out by the Human Genetics Commission, we also signpost all users to genetic counseling services if they are needed. Data shows that approximately 4% of customers go on to discuss their results with their doctors.

SN: What do you think motivates people to order this test?

ED: 23andMe helps UK customers learn more about their health so that they may take action where appropriate. By revealing information such as genetic risk factors, drug response, and inherited conditions, individuals may be prompted to gather more information about their family health history or may be in a position to have a more informed dialogue with their doctor. As an example, results may inform an individual if they are more predisposed to blood clots, enabling a discussion with their doctor about appropriate precautions during surgery or other relevant situations. Some of this information can only be learned by examining an individual’s genetics.
Some of our customers are just interested in the ancestry results. For example, one of our customers from Scotland bought a 23andMe test to help him understand his family genetics in order to develop a new tartan!

SN: Could there be a role for this service in healthcare? Do you have any clinicians ordering tests for their patients?

ED: We believe 23andMe can serve as the catalyst to transition the healthcare model from a treatment-based model to a preventative model, with the individual at the centre. We see a future where genetic testing becomes a routine part of healthcare, but all of us working in genetics recognise that the science is still at an early stage.
23andMe offers a significant amount of information for the £125 ($189) price. The cost of ordering the same information through the traditional healthcare system would otherwise be much higher for each individual. However, while the nature of this information may augment your personal understanding of your own health and inform discussions you have with your doctor, it cannot replace diagnostic tests.

SN: Can you tell us a bit about the research studies that you are participating in?

ED: On average, each individual who opts-in to our research informs 230 different genetic studies. To date, our active research community has enabled 23andMe to identify hundreds of new genetic associations. The company has published and contributed to 22 studies in peer-reviewed, scientific journals over the past four years.
A few examples of past research efforts include: A genome wide association study with ALSPAC (Univ of Bristol, UK), identifying 16 new genetic associations for common allergies; numerous collaborative efforts with Michael J. Fox Foundation and the PD GWAS Consortium; InVite, a study of metastatic cancer and bevacizumab with Genentech; TogetherRA, a study of rheumatoid arthritis, in partnership with Janssen Pharmaceutical and MediGuard.

SN: Is there anything else that you would like to tell our readers about?

ED: Just last week 23andMe announced the first of several recently signed collaborations with pharmaceutical companies to help accelerate research into drug treatments and therapies for disease. 23andMe and Genentech are collaborating on an innovative research initiative designed to create whole genome sequencing data for a subset of the 23andMe Parkinson’s community. The goal of this research initiative is to identify novel targets for Parkinson’s. The sequencing data generated by this research effort will be available to Parkinson’s researchers from around the globe through 23andMe after the duration of this study.

23andMe has also just announced a collaboration with Pfizer to establish a new Lupus research community in 2015.

With thanks to Emily Drabant Conley, Ph.D., Director of Business Development and Research Scientist, 23andMe.