Today, 23andMe is announcing its new, advanced health membership – 23andMe+ Total Health™, which launches to new consumers in early November.

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Total Health is designed to be a comprehensive, prevention-based membership, combining clinical grade exome sequencing, biannual blood testing, and unprecedented access to clinicians trained in genetics. Total Health will also include all the reports and features offered in our existing 23andMe+ Premium Membership in addition to these new services.

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“We’re bringing the power of genetics into your personal healthcare journey,” said 23andMe’s Vice President of Genomic Health Noura Abul-Husn, M.D. Ph.D. “We’re offering comprehensive genetic testing – including exome sequencing – to help you understand your disease risks, blood testing to check on your health status, and access to clinicians with unique expertise to guide your next steps.”

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As a medical geneticist Noura said she wants people to understand how their genetic information is connected to their health. This empowers them to use that knowledge to stay healthy, she said.

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“We don’t typically see genetics being used this way in healthcare, but it can, and it should. It’s about prevention,” Noura said. “It’s personal. It’s the whole story. It’s Total Health.”

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A prevention-focused future

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Total Health delivers on our mission to help people access, understand and benefit from the human genome. This membership is for individuals who want to augment their current healthcare experience with even more direct access to comprehensive genetic testing, risk assessment in critical health areas, and personalized health plans driven by clinicians with unique knowledge and training in genetics. This is for the consumer who is actively focused on ongoing health management, longevity and direct access to even more testing so they can mitigate, or prevent, disease.

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Through the combination of critical health data, including comprehensive and personalized genetic information, blood biomarkers and personal and family medical history, the genetics-trained clinicians can provide risk assessments and help build a highly personalized, preventive health plan.

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What’s included?

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Exome sequencing

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Through advanced exome sequencing, members will receive clinician-ordered genetic testing that looks deeper into high impact genes associated with 55+ health conditions that, if detected early, may have effective preventive measures and clinical interventions. This includes screens for clinically actionable and under-diagnosed hereditary conditions related to cancer, cardiovascular, metabolic, kidney, neurological and other health conditions. This includes all genes considered medically actionable by the American College of Medical Genetics (ACMG).

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Biannual blood testing

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While genetics offers insight into the future, blood testing gives insight into the now. Total Health members will get comprehensive blood tests that assess 55+ biomarkers, including ones that go beyond your routine labs. This includes measuring things like blood sugar levels, kidney, liver and thyroid function, along with cholesterol and advanced lipoprotein levels, which offer ongoing insight for prevention and early detection. Members will receive biannual testing, allowing them to track results and measure progress all within their 23andMe account. Blood testing is initiated by a clinician and members will complete their testing through a local lab offered by a third-party provider.

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Access to clinicians trained in genetics

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Total Health members will have access to clinicians trained in genetics. Clinicians will review all blood biomarkers, genetic data and personal and family medical history to provide members with personalized risk assessments and help build a preventive health plan tailored to each individual. Members are able to engage in an annual virtual clinician consultation, as well as have ongoing messaging conversations with clinicians about their reports, progress they are making, or to ask questions.

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23andMe+ Premium Membership

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As part of Total Health, members will gain access to all the premium reports and features delivered through 23andMe+ Premium. This includes:

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FDA authorized reports offered through our Health + Ancestry Service*
Polygenic reports (powered by 23andMe research), which look at your genetic likelihood for more common conditions like high LDL cholesterol, asthma and anxiety
Pharmacogenetic reports, which help you understand how your genetics can impact how you process certain medications**
Enhanced ancestry features

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Expanding coverage

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Historically, 23andMe has offered reports using genotyping technology, a powerful, efficient and accurate way to examine DNA variants at certain pre-identified positions in the genome. The specific positions we look at are known to more commonly vary between individuals that span the entire genome.

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However, exome sequencing is an advanced, comprehensive genetic testing technology that involves reading every DNA letter in its correct order within a given piece of the genome. This provides individuals with a more complete picture, surfacing the majority of genetic variants known to be associated with disease risk.

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For example, we use genotyping for our BRCA1/BRCA2 (Selected Variants) Genetic Health Risk report*, which looks at 44 variants within the BRCA1 and BRCA2 genes associated with breast, ovarian, and prostate cancer. With exome sequencing, Total Health will include reports that look at all the thousands of variants within the coding region of the BRCA1 and BRCA2 genes. We’ll also include thousands of variants in many other genes associated with increased cancer risks.

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Our exome sequencing will go beyond cancer to also include clinical interpretations of high impact genes associated with other hereditary health conditions that, if detected early, may have effective prevention measures and clinical interventions.

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23andMe+ Total Health offers members a fuller picture of their risk for disease, helping them navigate to a healthier future.

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Availability and Eligibility

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Total Health is available for those 18 and older in the United States (excluding Hawaii, New Jersey, New York, and Rhode Island). The 23andMe+ Total Health membership costs $999, with an annual membership renewal of $499 per year.

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Learn more about 23andMe+ Total Health™ here.

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Important PGS Test Information

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*The 23andMe PGS test includes health predisposition and carrier status reports. Health predisposition reports include both reports that meet FDA requirements for genetic health risks and reports which are based on 23andMe research and have not been reviewed by the FDA. The test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults from saliva for the purpose of reporting and interpreting genetic health risks and reporting carrier status. It is not intended to diagnose any disease. Your ethnicity may affect the relevance of each report and how your genetic health risk results are interpreted. Each genetic health risk report describes if a person has variants associated with a higher risk of developing a disease, but does not describe a person’s overall risk of developing the disease. The test is not intended to tell you anything about your current state of health, or to be used to make medical decisions, including whether or not you should take a medication, how much of a medication you should take, or determine any treatment. Our carrier status reports can be used to determine carrier status, but cannot determine if you have two copies of any genetic variant. These carrier reports are not intended to tell you anything about your risk for developing a disease in the future, the health of your fetus, or your newborn child’s risk of developing a particular disease later in life. For certain conditions, we provide a single report that includes information on both carrier status and genetic health risk.

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Warnings & Limitations:

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The 23andMe PGS Genetic Health Risk Report for BRCA1/BRCA2 (Selected Variants) is indicated for reporting of 44 variants in the BRCA1 and BRCA2 genes. The report describes if a person’s genetic result is associated with an increased risk of developing breast cancer and ovarian cancer and may be associated with an increased risk for prostate cancer, pancreatic cancer, and potentially other cancers. The variants included in this report do not represent the majority of the BRCA1/BRCA2 variants in people of most ethnicities. This report does not include variants in other genes linked to hereditary cancers and the absence of variants included in this report does not rule out the presence of other genetic variants that may impact cancer risk. This report is for over-the-counter use by adults over the age of 18, and provides genetic information to inform discussions with a healthcare professional. The PGS test is not a substitute for visits to a healthcare professional for recommended screenings or appropriate follow-up. Results should be confirmed by an independent genetic test prescribed by your own healthcare provider before taking any medical action. For important information and limitations regarding each genetic health risk and carrier status report, visit 23andme.com/test-info.

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**23andMe PGS Pharmacogenetics reports: The 23andMe test uses qualitative genotyping to detect 3 variants in the CYP2C19 gene, 2 variants in the DPYD gene and 1 variant in the SLCO1B1 gene in the genomic DNA of adults from saliva for the purpose of reporting and interpreting information about the processing of certain therapeutics to inform discussions with a healthcare professional. It does not describe if a person will or will not respond to a particular therapeutic. Our CYP2C19 Pharmacogenetics report provides certain information about variants associated with metabolism of some therapeutics and provides interpretive drug information regarding the potential effect of citalopram and clopidogrel therapy. Our SLCO1B1 Pharmacogenetics report provides certain information about variants associated with the processing of some therapeutics and provides interpretive drug information regarding the potential effect of simvastatin therapy. Our DPYD Pharmacogenetics report does not describe the association between detected variants and any specific therapeutic. Results for DPYD and certain CYP2C19 results should be confirmed by an independent genetic test prescribed by your own healthcare provider before taking any medical action. Warning: Test information should not be used to start, stop, or change any course of treatment and does not test for all possible variants that may affect metabolism or protein function. The PGS test is not a substitute for visits to a healthcare professional. Making changes to your current regimen can lead to harmful side effects or reduced intended benefits of your medication, therefore consult with your healthcare professional before taking any medical action. For important information and limitations regarding Pharmacogenetic reports, visit 23andme.com/test-info/pharmacogenetics.

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Researchers often say it’s their love of science that drives their work, but for Eric Minikel and Sonia $\"Eric$ Vallabh it’s their love that propels the science.

The married couple – both are researchers at the Broad Institute and are completing their doctorates at Harvard Medical School – helped to co-author a new paper looking at the genetic risk for developing prion disease, a rare but devastating condition that hits the nervous system, impairs brain function, triggers other neurodegenerative symptoms such as memory loss and insomnia, and ultimately causes death. It’s triggered when a protein misfolds causing clumping in brain tissue, typically manifesting itself around the age of 50.

It’s Personal

For Eric and Sonia this research is personal, as Eric movingly writes in this blog post.

About five years ago, not long after they married, their lives took a sharp turn when Sonia’s mother died at 52. It was only after her mother passed away that Sonia and Eric learned about what killed her – Fatal Familial Insomnia, a form of prion disease. Soon thereafter, Sonia learned that she inherited a genetic mutation, putting her at a very high risk for the disease.

In response, first Sonia, who’d recently graduated from law school at Harvard, and then Eric, a city planner and software engineer, made career changes, dedicating their lives to finding a cure for prion disease. They started working at a lab at Massachusetts General Hospital, took night courses and eventually were accepted at Harvard Medical School. They now work in the Stuart L. Schreiber Research Laboratory at the Broad Institute of MIT and Harvard.

$\"Sonia$

Sonia working in the lab.

Even before this paper they made an impact. A few years ago, the couple formed the non-profit Prion Alliance and Eric started the blog CureFFI, which is a great resource for information about research into prion disease. It also catalogues his education in the science and what motivates him.

Recognition for their Work and Story

Their story has been featured in both the Atlantic and the New Yorker. A joint presentation they did at the American Society of Human Genetics focused on citizen science and crowdsourcing for scientific research.

More recently, Eric developed a statistical method that refuted previous studies suggesting that in families with inherited prion disease, the disease will manifest itself as much as 14 years earlier with each generation. If true that would have been devastating for Sonia, who turned 31 in 2015. However, Eric’s findings also highlight problems with research into other rare diseases, which can suffer from a lack of data or selection bias because the data comes from within the disease communities they study.

The research for this paper – which draws in part from data provided by 23andMe and Exome Aggregation Consortium data from the Broad – is important because it changes assumptions about the risks associated with some of the more than 60 mutations in the PRNP gene that are thought to confer risk for prion disease. In another recently published paper, Harvard’s Robert Green points out that Eric and Sonia’s work doesn’t just shed light on prion; it also highlights the power of sharing genetic data:

“The story of this research stands as a testament to the generosity of unrequited data sharing from thousands of individuals and scientists around the globe and to the unflinching devotion of a young couple to alter their seemingly unalterable genetic destiny,” Green writes.

Real Progress

The study began with the observation that variants in the PRNP gene that have been reported to cause prion disease are at least 30 times more common than expected in the general population. Up until now, many doctors have assumed that all those mutations were associated with a 100 percent risk of developing the disease. However, if all of these mutations were “completely penetrant,” or 100 percent disease-causing, then the number of people developing the disease each year would have to be much higher than what is seen in clinics worldwide. This discrepancy suggested to the researchers that some of these variants could have “incomplete penetrance” or may even have no impact on the disease risk. $\"eric-sonia-in-lab\"$

By comparing the frequency of individual variants in prion disease patients versus the general population, the team found that the variants previously reported to cause prion disease aren’t all created equal — they actually form a spectrum of risk. At one end, some mutations previously reported as disease-causing appear benign, meaning that they do not increase the risk of prion disease above the baseline risk in the general population.

Variants with Different Risk

On the other end, some mutations really do convey a very high risk, upwards of 80-to-90 percent, of developing disease in one’s lifetime. In between, some variants appear to convey an intermediate lifetime risk of, for example, 0.1 or 10 percent. Then, there were some variants for which the data was insufficient to draw conclusions.

According to the researchers, this is great news for some individuals who carry variants that now appear to be low-risk.

“Through our relationship in the patient community, we have met people with several of the mutations that we now believe are low-risk or benign. Some of those people had been told they had a very high risk of disease, so our work changes their prognosis,” said Eric.

Unfortunately, Sonia’s mutation, D178N, isn’t one of those that is low-risk. The new research confirms that the mutation she carries—along with mutations that many others carry—confers a near 100 percent risk for developing prion disease.

“Our work doesn’t change the prognosis for most patients with genetic prion disease,” said Eric. “Only a minority of them.”

Although it doesn’t directly change Sonia’s prognosis, the new study may help develop drugs to treat prion disease. The study found that a few reduce the prion protein’s function among the benign mutations. Because carriers of these so-called “loss-of-function” mutations are apparently healthy, it suggests that developing drugs that work against the protein may be safe. Eric and Sonia are now working on developing molecules to do just that, and they can move in that direction more confidently.

Love and Science

In the context of prion disease, this study positively impacts the prognosis for a few hundred individuals worldwide while providing validation for a therapeutic strategy that may offer hope more broadly to patients and families affected by prion disease.

The researchers said that, more generally, the study also highlights the value of large reference datasets like 23andMe’s and Broad’s.

For this study, researchers used exome data from 60,000 people collected by the Broad Institute from a large international consortium and genotypic data from more than 530,000 23andMe customers who consented to research. Excitingly, as datasets of this size continue to grow, so will their power to expand and refine our understanding of human disease.

In the couple profile that appeared in the New Yorker in 2014, the writer quotes from an email he received from Sonia trying to describe her relationship with Eric.

“I thought when I married him that I could never love anyone more than I did that day. But I was wrong,” she said. “We are in a new dimension of partnership now, and I am more in love and, frankly, more in awe of him with every day we spend together. His brain is outstandingly powerful, and I see things I would never have known he was capable of in any other way. He was meant to do this work, and the world will be better for it.”

Love might not conquer all, but Eric and Sonia’s work points to what it can do when fueling the work of two brilliant minds.

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(Editor’s note: Here is a link to Eoghan’s poster presented at ASHG.)

People often use the terms “genotyping” and “sequencing” interchangeably, but they are quite different ways of approaching genetic data.

One large difference is the amount of data generated. Genotyping, what 23andMe does, tells you your genotype at a small subset of locations in your DNA; full-genome sequencing tells you your genotype at every position. Moving from genotyping to sequencing is on par with replacing a picture of your DNA with one pixel-per-square-inch resolution with a picture with 3,000 pixels-per-square-inch resolution. In short, sequencing means a LOT more information.

As the price of sequencing continues to plummet, we foresee a time when sequencing will be affordable. 23andMe has long lived in the world of genotyping, but anticipating this not-so-distant future, we are exploring how to move into this new world of sequencing. Making this move will require overcoming the many new challenges of dealing with such large amounts of data. Eoghan Harrington, a computational biologist at 23andMe, will be presenting a poster at the American Society of Human Genetics (ASHG) conference next month on how 23andMe has begun to be address some of these challenges in its first sequencing pilot project.

We must walk before we run. Rather than starting with full-genome sequencing, our pilot sequencing study was limited to just the exome portion of DNA, the part of the genome that is translated into proteins. The exome contains about 50 million base pairs, making it a good intermediate size between genotyping about 1 million base pairs and full-genome sequencing at about 3 billion base pairs.

Many of the challenges associated with full-genome sequencing still needed to addressed in this exome sequencing study: the storage and delivery of large (6GB!) files, making sure the data presented was accurate and trustworthy, and giving at least some context to the data returned.

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You, too, can contribute to research! How? One easy way is to answer the research surveys at 23andMe.

Not yet a customer? Visit our store!

Eoghan and his coworkers were successful in overcoming these challenges. Because all the customers who participated in the sequencing pilot were already genotyped by 23andMe, we could check how often the two methods – genotyping and sequencing – reported the same genotype; the concordance between the two methods was 99.6-99.9%. Perhaps more importantly, the pilot project was successful in the eyes of the participants, many of whom have an extensive background in genetics and gave helpful and positive feedback. These successes will be highlighted in Eoghan’s poster next month at the conference.

23andMe has taken a look into the world of sequencing and has found it be an inviting place. We will take what we’ve learned from this exome experience to prepare for the day when full-genome sequencing will be an affordable possibility for everyone.

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$\"\"$

Six months ago, we announced our Exome 80X pilot project. At 23andMe, we’ve carefully followed every advance in sequencing technologies and read every paper comparing them, waiting for the opportunity to offer a meaningful and affordable option to the consumer market. While other (expensive) offerings have been available for some time, we’ve seen that consumers have been waiting for this opportunity, too.

Today, we delivered our first batch of exome data to the earliest project participants. There are many more still being sequenced and processed, but this is an exciting milestone in the development of our platform. We’re proud to share this moment with our pilot customers, many of whom are experts in their own right, and hope to learn as much in the coming months from their personal experiences with the data as we are learning from ours.

As more participants get their data, we encourage everyone* (exome or not) to join the discussion in our exome community.

* You must be a 23andMe customer to participate in the 23andMe Community forums.

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23andMe Moves into the World of Sequencing

Exomes — The First of Many!

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