The standard advice for breast cancer screening has been simple and uniform: start your annual mammograms at age 40. But what if the future of screening isn&#8217;t one-size-fits-all, but deeply personal, guided by your own unique risk profile?



Results from a major study, the WISDOM study, show that the one-size-fits-all approach is increasingly outdated. 



“I am excited about a future where genetic information becomes the foundation of personalized health,” says Dr. Noura Abul-Husn, 23andMe Research Institute VP of Genomic Health and Chief Medical Officer. “Since the start, the 23andMe Research Institute has been focused on helping our members benefit from genetics-informed prevention and care.”



The WISDOM study, led by UCSF researchers and <a href="https://pubmed.ncbi.nlm.nih.gov/41385349/" target="_blank" rel="noreferrer noopener">published in JAMA</a> (The Journal of the American Medical Association), explored this very question. Following 28,000 women, the researchers randomized participants into two groups: one receiving traditional annual screening, and the other receiving screening tailored to their personalized risk.



The personalized risk group was divided into four levels. For the lowest-risk women, breast cancer screening was not recommended until age 50. For the highest-risk women, screening was often accelerated to twice a year and included an MRI, regardless of age.



The powerful finding? This personalized approach, including waiting until age 50 for mammograms for the lowest-risk group, did not result in more late-stage cancer diagnoses compared to the annual screening group. This suggests that tailoring screening to individual risk is a safe and potentially more efficient path forward.



<h2 class="wp-block-heading" id="h-your-risk-your-genes-why-family-history-isn-t-enough">Your Risk, Your Genes: Why Family History Isn’t Enough</h2>



The WISDOM study provided compelling evidence for the value of genetics. Researchers included genetic testing for all women in the personalized risk group. In a <a href="https://pubmed.ncbi.nlm.nih.gov/41385723/" target="_blank" rel="noreferrer noopener">second crucial finding</a>, they discovered that approximately 30% of women in the study who carried genetic variants that increased their risk had NO family history of breast or ovarian cancer.



This reinforces what other studies (<a href="https://pubmed.ncbi.nlm.nih.gov/30646163/" target="_blank" rel="noreferrer noopener">1</a>,<a href="https://pubmed.ncbi.nlm.nih.gov/39669632/" target="_blank" rel="noreferrer noopener">2</a>) have shown to be a <a href="https://jamanetwork.com/journals/jama/fullarticle/1902783" target="_blank" rel="noreferrer noopener">critical gap</a> in existing guidelines, which often rely heavily on family history or ancestry to determine who qualifies for extra screening. Without access to their genetic information, these women would have been overlooked, potentially delaying a necessary conversation about earlier or more intensive screening.



<h2 class="wp-block-heading" id="h-single-genes-vs-polygenic-risk-the-complete-picture">Single Genes vs. Polygenic Risk: The Complete Picture</h2>



Breast cancer is not one disease, and risk is not determined by one factor. At 23andMe, we know that truly understanding individual risk requires looking at genetics in different ways:



<ol class="wp-block-list">
<li>Single-Gene Risk: These are high-impact variants in genes like BRCA1 and BRCA2 that can significantly increase risk. They are rare but powerful indicators, often associated with hereditary cancer syndromes.</li>



<li>Polygenic Risk Scores (PRS): These scores look across many genetic variants throughout the genome, measuring how the usually small genetic effect of many variants add up to impact your overall risk. No single variant has a major effect, but the cumulative effect can be highly informative.</li>
</ol>



Both are important. High-impact genetic variants tell you about a strong, specific hereditary risk, while PRS provides a broader measure of your general genetic predisposition. A comprehensive view, incorporating both, gives you the most complete picture of your inherited risk.



<h2 class="wp-block-heading" id="h-how-23andme-can-help-inform-your-decisions">How 23andMe Can Help Inform Your Decisions</h2>



Having access to this genetic information is the first step in creating a more informed starting point for conversations with your doctor about screening and prevention.



At the 23andMe Research Institute, we are committed to making personalized health information accessible:



<ul class="wp-block-list">
<li>FDA-Authorized Reports on High-Impact Variants: Our health services include the only FDA-authorized direct-to-consumer test that screens for select high-impact variants in the BRCA1 and BRCA2 genes.</li>



<li>Polygenic Risk Scores (PRS): For <a href="https://www.23andme.com/membership/" target="_blank" rel="noreferrer noopener">23andMe+ Premium</a>™ members, we offer a Breast Cancer PRS Report that looks across the genome to evaluate risk.</li>



<li>Comprehensive Screening: Our most comprehensive genetic test, the <a href="https://www.23andme.com/total-health/" target="_blank" rel="noreferrer noopener">23andMe Total Health</a>™ service includes exome sequencing to identify additional high-impact genetic variants that may impact health.</li>
</ul>



Genetic information is a powerful tool that can help guide decision making. The WISDOM study reinforces the message that personalized screening is the way forward. By bringing your risk profile, including your genetics, to a healthcare professional, you can have a tailored discussion about the screening frequency, age of initiation, and supplemental monitoring (such as ultrasound or MRI) that is right for you and your personalized breast cancer risk.



The future of cancer screening is increasingly personal, and your DNA should be an essential part of that story.



<h2 class="wp-block-heading" id="h-references">References</h2>



<ol class="wp-block-list">
<li>Manickam K, Buchanan AH, Schwartz MLB, et al. <a href="https://pubmed.ncbi.nlm.nih.gov/30646163/" target="_blank" rel="noreferrer noopener">Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.</a> JAMA Netw Open. 2018;1(5):e182140. Published 2018 Sep 7. doi:10.1001/jamanetworkopen.2018.2140</li>



<li>Llorin H, Tennen R, Laskey S, Zhan J, Detweiler S, Abul-Husn NS. <a href="https://pubmed.ncbi.nlm.nih.gov/39669632/" target="_blank" rel="noreferrer noopener">Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry.</a> Genet Med Open. 2024;2:101869. Published 2024 Jul 16. doi:10.1016/j.gimo.2024.101869</li>
</ol>

The Future of Screening is Personal: What the WISDOM Study Says About Breast Cancer and Genetics

<img loading="lazy" decoding="async" class="alignright size-full wp-image-10136" title="PMWC-2012sv" src="https://blog-api.23andme.com/wp-content/uploads/2011/10/PMWC-2012sv-e1319217484319.jpg" alt="" width="200" height="72">
The 4th annual <a href="http://pmwc2012.com" target="_blank" rel="noopener">Personalized Medicine World Conference</a> (PMWC) begins today at the Computer History Museum in Silicon Valley. 23andMe is excited to be a part of this unique event and we look forward to the engaging discussions that are sure to come out of it.
Our Chief Business Officer Ashley Dombkowksi will talk about 23andMe&#8217;s unique research platform and opportunities for personalized medicine at 11:45 AM today in her talk, &#8220;ReSearch, MeSearch, WeSearch. How Genetics, Consumers, and the Power of Crowd Sourcing are Redefining Healthcare.&#8221;
If you&#8217;re inspired by the idea of exploring your own genetic information or banding together with others to make meaningful research discoveries, come by our booth at PMWC to order a kit! 23andMe staff will be on site from 8am-4pm both days to answer questions, walk you through the Personal Genome Service ®, and get you started. We&#8217;ll also have fun freebies for you to take home with you and, if you mention the secret word &#8220;WeSearch&#8221;, you could take home a free t-shirt!*
We hope to see you at PMWC!
* While supplies last. Limit one t-shirt per person. No purchase necessary. Must be at least 18 years of age to be eligible. Prizes given at PMWC 2012.

See You at the 2012 Personalized Medicine World Conference!

There’s nothing futuristic about personalized medicine, but James Heywood, the chairman and co-founder of PatientsLikeMe, likes to pull a line from a futurist and science fiction writer to describe it.

“There’s a William Gibson quote that I think is appropriate,” Heywood said in a recent interview in anticipation of his talk at the Personalized Medicine World Conference 2012.
He said, ‘The future is here, it’s just not evenly distributed.’”

<img loading="lazy" decoding="async" class="alignright size-medium wp-image-10658" title="-1" src="https://blog-api.23andme.com/wp-content/uploads/2011/12/1-258x300.jpg" alt="" height="300" width="258" />

Clearly there is research being done that changes the ways patients are treated and the way scientists investigate disease, but most patients would be hard pressed to describe their brief encounters with their doctors as personalized.

More to Heywood’s point though is that the tools for making medicine more personalized are available, and yet they’re just not being used or at least not widely use.

For example, Heywood said that each and every clinical encounter between a doctor and a patient amounts to “a unique experiment.” The problem, Heywood said, is that it isn’t “computably recorded.” 
In part, PatientsLikeMe is trying create the tools that allow for patients to share that kind of actionable information. The company creates communities of people dealing with the same illnesses and facilitates the sharing of information.
23andMe partnered with PatientsLikeMe, the Michael J. Fox Foundation, the National Parkinson Foundation and other organizations to help recruit patients to our Parkinson’s Research Community. 
PatientsLikeMe collects information from its users so that they can share and learn from fellow patients. This allows them to learn about what they might expect as their illness progresses. 
Heywood offered the example how for a short time lithium was used to treat ALS.
The decision by patients and their doctors to use the drug came from a single small published study. But over time the experience of patients on the drug showed that the publication’s claims were untrue; lithium could not slow the progression of ALS. It was the patient-reported data from PatientsLikeMe’s ALS community that brought this serious problems to the surface. And for those in the greater ALS community, it warned them away from experimenting with the drug before a traditional research study was published telling them much the same thing. 
That is how PatientsLikeMe is meant to work.

“The purpose is to provide meaningful data for patients,” Heywood said.

Users can see how others have reacted to different drugs used to treat their conditions and they can share their own outcomes. This information also connects researchers directly to patients, who can help improve the development of medicine, for instance. They can share that and their own experiences with doctors, he said. 
More broadly, Heywood says that to create a truly patient-centered approach to medicine, we will have to begin to collect rich and vast sets of data. 
Heywood started PatientsLikeMe with his brother Ben, in large part because of their brother Stephen’s diagnosis with ALS.
The mantra for the company has been to answer questions that Stephen, who died in 2006, wanted answered as he endured the illness: “Given my status, what’s the best outcome I can achieve, and how do I get there.”

Patient-Centered Medicine and PatientsLikeMe

It’s hard to picture a more “personalized” approach to medicine than Dr. Ronald Levy’s.
Levy, chief of the oncology division at Stanford University’s School of Medicine, has spent his career finding ways to induce a person’s own immune system to fight cancer, specifically lymphoma.
<img loading="lazy" decoding="async" class="alignright wp-image-10571 size-medium" title="Ron Levy" src="http://35.88.189.111/wp-content/uploads/2011/11/Ron-Levy-287x300.jpg" alt="" width="287" height="300" srcset="/wp-content/uploads/2011/11/Ron-Levy-287x300.jpg 287w, /wp-content/uploads/2011/11/Ron-Levy.jpg 408w" sizes="auto, (max-width: 287px) 100vw, 287px" />
Levy will be speaking early next year at the <a href="http://pmwc2012.com/index.php">Personalized Medicine World Conference 2012</a> about his work and strategies for bringing personalized medicine into the clinic. His many awards include the General Motors Kettering Prize and the American Society of Clinical Oncology Karnofsky Award, and, ion 2009, the King Faisal International Prize in medicine. He was elected to the Institute of Medicine in 2007.
In his work Levy targets the receptor molecules on the surface of cancer tumors using monoclonal antibodies that in turn induce an immune response – personalized antibodies – meant to kill the cancer.
“Each tumor is unique,” Levy said of lymphoma.
And “every person has a target that we can make an attack against.” 
His pioneering work on this kind of patient-specific therapy – and a hoped for cancer vaccine – led to the formation of the company IDEC Pharmaceuticals in 1985. 
While the company was able to develop some promising therapies the approach “wasn’t a good business model,” Levy said. 
Yet that early work led to the development of Rituximab, an antibody used in the treatment of lymphoma, which is part of the core business for the company that absorbed IDEC, Biogen Idec. According to the company, Rituximab is most prescribed treatment for non-Hodgkin&#8217;s lymphoma. 
Levy is now working to develop treatments against B-cell lymphoma and looking at promising avenues for the development of a patient-specific cancer vaccine. His lab is also using high throughput sequencing to identify mutations in pathways with hopes of also identifying drug targets and stimulating the immune system to fight the cancer. 
Levy is now working to develop other treatments against B-cell lymphoma and looking at promising avenues for the development of a patient-specific cancer vaccine. As with BRCA gene tests that are used to indicate risks for breast cancer, Levy envisions similar tests for other cancers. Knowing if a patient is at a higher risk for developing a cancer could help doctors and patients take steps immediately to try to prevent it, he said. Once cancer occurs, its genetic profile can inform the choice of which drug to use 
Although genetic tests are already being used in a limited way, Levy believes we’ve only scratched the surface. 
“Right now there are a handful of things we can test for that can make a difference for a patient,” he said. “In the future it’s not going to be a handful but a computer full.” 
Genetic work-ups are increasingly becoming common, and Levy sees the only obstacle to more universal adoption of these individual genetic work ups being their relative utility. 
“It’s limited simply by the proof of value,” he said. “Once the community sees that they work these things get adopted at lightening speed.”

A Cancer Fighter Gets Personal

When <a href="http://www.systemsbiology.org/scientists_and_research/faculty_groups/Hood_Group/Profile" target="_blank" rel="noopener noreferrer">Dr. Leroy Hood</a> talks there’s a reason a lot of people in the fields of medicine, biology and genetics listen.
Beyond his pioneering work in developing automated gene sequencing, Hood helped found companies as diverse as Amgen and Applied Biosystems; he is one of only about a dozen people who belong to the National Academy of Sciences, the National Academy of Engineering and the Institute of Medicine; and now as president of the Seattle-based <a href="http://www.systemsbiology.org/" target="_blank" rel="noopener noreferrer">Institute for Systems Biology</a>, Hood is focusing his broad experience into researching immunology, neurobiology, cancer biology, molecular evolution and systems medicine.
<img loading="lazy" decoding="async" class="alignright wp-image-10388 size-full" title="Leroy Hood" src="http://35.88.189.111/wp-content/uploads/2011/11/Leroy-Hood.jpg" alt="" width="426" height="640" srcset="/wp-content/uploads/2011/11/Leroy-Hood.jpg 426w, /wp-content/uploads/2011/11/Leroy-Hood-200x300.jpg 200w" sizes="auto, (max-width: 426px) 100vw, 426px" />
He is also an advocate of personalized medicine and what he calls “P-4 Medicine” or an approached to medicine that is predictive, preventative, personalized and participatory. He is an advisor to next year’s <a href="http://pmwc2012.com/" target="_blank" rel="noopener noreferrer">Personalized Medicine World Conference</a> and recently spoke to the Blog about his work and new developments in the field.
You and the Institute for Systems Biology were recently involved in sequencing a family of four. Why did you do this and what did you learn? Does the experience give you any insight into the future value of sequencing either full genomes or exomes?
Dr. Hood: “We sequenced genomes of a family of four where the parents were normal and the two kids each had two genetic diseases. We were convinced that it might be easier to find disease genes with all of these data.  We found that the ability to use the principles of Mendelian genetics lead to quite remarkable opportunities. First, we were able to correct 70 percent of the DNA sequencing errors. Second, we could immediately identify rare variants and distinguish them from DNA sequencing errors if two or more members of the family had the rare variant. Third, we were able to determine the haplotypes of all the chromosomal pairs for all members of the family — and could accurately determine the sites of recombination. Fourth, we could determine the human intergenerational mutation rate for the kids — roughly 35 mutations per kid.  Finally, we narrowed the disease gene candidates down to four — and the assignments were straightforward. We feel strongly that human genomes should be completely sequenced in the context of families.”
Twenty-five years ago you advocated for the Human Genome Project. Is there something equivalent that should be advocated for now? Why?
Dr. Hood: “We are now pushing the Human Proteome Project. This project has striking similarities to the human genome project.  We need to develop good assays for all human proteins.  We need to develop many technologies for measuring the enormous complexity of proteins (mutations, RNA splicing variants, chemical modifications, dynamical three-dimensional structures, new strategies for identifying functions, etc.). We also need to develop parallel computational and mathematical tools. We need to develop accurate<a href="https://en.wikipedia.org/wiki/In_silico"> in silico</a> tools for determining 3-dimensional structures of proteins and peptides.  We need to develop the computational tools to democratize <a href="https://en.wikipedia.org/wiki/Proteomics" target="_blank" rel="noopener noreferrer">proteomics</a> — make this discipline accessible to all scientists.  Proteins execute the functions of life — and are key in the end to understanding both simple and complex biological functions.”
Two of the four Ps you talk about with P-4 medicine are “personalized” and “participatory.” What are some of the best examples, in your opinion, of this kind of medicine right now?
Dr. Hood: “I think some of the best examples for personalized medicine have to do with sequencing tumors, identifying mutated signal transduction molecules and then choosing therapies based on the data from the individual tumors.  This has been done for melanoma, breast cancer and colon cancer.  I think patients are just coming into their own for the participatory group.  Examples are the groups of patients that have gotten together to deal with their diseases (cancer, neurodegenerative, etc.)  A second example, are those few patients who are beginning to quantify their own personal data to optimize wellness.  <a href="http://lsmarr.calit2.net/">Larry Smarr</a> has recently written a wonderful paper on his 10 year quest to optimize his own wellness.”
How do you envision medicine will be more personalized and include more participation in the future?
Dr. Hood: “In the future we will gather billions of data points on each patient and use this to sculpt their individual potential for wellness and potential for disease.  We will be able more and more to provide individual advice to the patient on how to optimize their health. A second area is that we will be able to more and more effectively divide or stratify disease into its various subtypes.  For example, breast cancer has at least five different subtypes by histological and molecular features.  This stratification is essential for creating an impedance match with the right drugs — so the mantra of personalized medicine is the right drug at the right time for the right patient&#8211;and increasingly we will see this.  I think as patients gain more and more digitized data about their own health status — they will more and more actively participate in their own wellness.”
Earlier this year <a href="https://blog.23andme.com/2011/06/15/23andme-2011-state-of-the-database-address/" target="_blank" rel="noopener noreferrer">23andMe’s database topped 100,000</a>. We’ve also enrolled more than 5,000 <a href="https://www.23andme.com/pd/" target="_blank" rel="noopener noreferrer">Parkinson’s patients</a> with the hope of getting to 10,000 and we have similar communities for <a href="https://www.23andme.com/sarcoma/" target="_blank" rel="noopener noreferrer">Sacrcoma</a>, <a href="https://www.23andme.com/mpn/" target="_blank" rel="noopener noreferrer">Myeloprofiferative Neoplasms</a> and most recently we established a research community for <a href="https://www.23andme.com/roots/" target="_blank" rel="noopener noreferrer">African Americans</a>. What impact do you think this kind of participant focused research can have? 

Dr. Hood: “I think it could have an enormous impact — particularly if you join with medical scientists to take advantage of these unique patient populations.  This is something I personally am extremely interested in exploring.”
  You recently said that within 10 years every company in the health care industry would have to rewrite its business plan because of the changes coming. What companies are successfully changing their approach to handle the transformations you foresee?  
Dr. Hood: “I believe that a systems approach to medicine will increasingly lead to a better understanding of disease mechanisms, will make blood a window into studying health and disease, will develop powerful tools for the stratification of disease, will generate new, rapid and ineffective ways to identify optimal drug targets for given disease, will be able to analyze the responses of multiple organs to a given disease and will increasingly begin to focus on optimizing wellness for the individual.  So there are opportunities for many companies to begin changing.  I think in the beginning new companies will lead the charge in these areas — and once they have demonstrated the power of their approaches — then the larger companies will follow.  An example is that drug companies are beginning to realize the importance of companion drugs — that allow the right population of patients to be identified for the drug.
In your career you’ve made a number of important breakthroughs, on high-speed DNA sequencers for instance. Where do you hope to make your next big breakthrough? 
Dr. Hood: “I see many important areas where there can be fundamental breakthroughs.  First, in applying the tools of genomics effectively to the identification of actionable opportunities for individual patients — by actionable I mean learning something about the patient that will allow the physician to advise the patient and change their health status.  Second, I think there will increasingly be advances in proteomics that will allow us to understand how proteins go about executing their functions of life — and understanding how proteins behave abnormally in disease.  I think a particularly important area is to develop new protein capture agents that will replace antibodies — reagents that are easily generated, that are stable and are inexpensive.  I think the area of detailed single-cell analysis will transform our understandings of biology and disease.  Finally, I think induced pluripotential stem cells (iPS) will be used for understanding biology and disease mechanisms, for diagnosis and ultimately for therapy — and this will transform how we approach biology.  I hope to push the vision of P4 medicine and to succeed in bringing it to patients.  I hope in the next few years to persuade a small single payer country to adopt P4 medicine.”

Listening to Leroy Hood

You are unique, but sometimes, when you see your doctor, you don’t feel you’re being treated that way.
The promise of personalized medicine is that what makes you, you can also be used to tailor the health care plan that is most effective for you.
<div id="attachment_10290" style="width: 208px" class="wp-caption alignright"><img loading="lazy" decoding="async" aria-describedby="caption-attachment-10290" class="wp-image-10290 size-medium" title="#2snyderman" src="http://35.88.189.111/wp-content/uploads/2011/11/2snyderman-198x300.jpg" alt="A photo of Dr. Ralph Synderman" width="198" height="300" srcset="/wp-content/uploads/2011/11/2snyderman-198x300.jpg 198w, /wp-content/uploads/2011/11/2snyderman.jpg 396w" sizes="auto, (max-width: 198px) 100vw, 198px" />Dr. Ralph Snyderman</div>
Dr. Ralph Snyderman This is already happening partly because of the work of people like Dr. Ralph Snyderman, chancellor emeritus at Duke University, and  James B. Duke, Professor of Medicine. Snyderman will speak early next year at the <a href="http://pmwc2012.com/index.php">Personalized Medicine World Conference 2012</a> about bringing this approach into the clinic.
“As far as I’m concerned, the patient must be at the center of effective personalized medicine and prospective care,” he said.
<h2>Prospective Health Care</h2>
The former Dean of Duke’s medical school and Chancellor for Health Affairs, Snyderman started talking about personalized and “prospective” health care more than a decade ago.   At the time, he predicted that medicine would move away from traditional reactive methods for treating disease. Instead, doctors would start using personalized data and health care planning to provide a more preventive, targeted, and individualized approach to health care.
It’s taken some time, but Snyderman can point to several areas where this approach has taken root.
“A major basis of optimism in the war against cancer relates to the development of personalized approaches to each patient’s specific disease,” said Snyderman in a recent interview with The Blog.
<h2>Breast Cancer Example</h2>
In the case of breast cancer, for instance, genetic tests and other kinds of tests can help determine who will benefit from certain types of drugs and who might suffer serious side effects. Analysis of the cancer itself can also decide on its molecular characteristics and what drugs should be used to attack it most effectively. Essentially, this approach is about getting the right drug to the right patient.
“Companion diagnostics used to identify the appropriate patients for targeted treatments are already being practiced to great success,” Snyderman said.
Between 20-and-30 percent of breast cancers are more aggressive because they overexpress a protein called human Eepidermal growth factor receptor 2 or HER2/neu. Tumors with an overexpression of HER2 tend to reoccur more often and have much worse outcomes. But by using biomarkers, genetic and other tests to identify these patients, drugs like Herceptin ® or <a href="http://www.tykerb.com/">Tykerb</a> ®   can suppress the expression of HER2 and improve outcomes.   (Dr. Snyderman previously worked for Genentech as a senior vice president for Medical Research and Development and helped put Herceptin ® into preclinical development.)
<h2>Other Examples</h2>
Snyderman points to other examples, including the targeted use of the drug <a href="http://www.gleevec.com/">Gleevec</a> ®, a kinase inhibitor used to treat chronic myelogenous leukemia, a cancer in white blood cells. In certain acute cases, the mortality rate had been 80 percent, but with the targeted use of the drug treatment, as many as 90 percent of patients go into remission, Snyderman said.
Beyond these targeted drug therapies, molecular diagnostics can now be used as predictive tools.
&#8220;<a href="http://www.allomap.com/">Allomap</a> ®, which is based on gene expression testing, can help in predicting outcomes for heart transplants and avoid needless heart biopsies,” Snyderman said.
Disease Drive Event
While these were just a few of the many good examples of what he sees as models for personalized medicine in practice now, Snyderman said there are still many obstacles to transforming the system. One is the culture of traditional medicine, where care is disease-driven event.
Then there are the problems with how we pay for health care. The current fee-for-service model rewards expensive interventions instead of healthy outcomes.   Finally, patients not only need to be invited into the conversation, they also have to be willing to engage.
“The first thing we need is to have consumers involved and engaged in their own health,” Snyderman said.
In part, that’s what he likes about 23andMe.
“Just the fact that consumers might approach some type of technology that gets them thinking about their health is a good thing.”

The Power of Predictive Care

<img loading="lazy" decoding="async" class="alignright size-full wp-image-10127" title="Felix Frueh" src="https://blog-api.23andme.com/wp-content/uploads/2011/10/Felix-Frueh.jpg" alt="" width="213" height="264" />
While a lot of the discussion about personalized medicine is focused on the future, Felix Frueh  of<a href="http://www.medcohealth.com/medco/corporate/home.jsp"> Medco Health Solutions</a> believes the most promising possibilities for individualized care could be implemented right now.
Knowing a person’s underlying genetics with currently available tests could make certain widely prescribed drugs more effective while also avoiding adverse reactions, according to Frueh, who is the president of the Medco Research Institute and spoke to the Blog last week.
“There are very actionable pieces of information that we can derive from genetic testing,” said Frueh.
23andMe is interested in getting this information into the hands of consumers and their doctors. It’s an effort to get away from the “one size fits all” approach to developing and prescribing medication. Pharmacogenomics aims to personalize the use and development of medicine by using a person’s genotype to determine the best drugs for an individual at the best dose. <a href="https://www.23andme.com/health/drugs/">23andMe’s Drug Response</a> reports provide a glimpse into the potential power of this approach. For different individuals, the same drug could be lifesaving, have no effect, or even be life threatening.
Looking specifically at the drugs <a href="https://www.23andme.com/health/Warfarin-Coumadin-Sensitivity/#Warfarin">warfarin</a> (Coumadin ®), and <a href="https://www.23andme.com/health/Clopidogrel-Plavix-Efficacy/#Clopidogrel">Clopidogrel</a> (Plavix ®), there are underlying genetics that can indicate how a patient will respond to the drugs.
This offers great utility for both doctors and patients, according to Frueh.  But less than 1 percent of those prescribing such medication are using available genetic testing to screen for drug responses, he said.
For Frueh this is an opportunity for a “teachable moment.” 

Medco has been involved in several studies looking at both the utility of the tests as well as the willingness of doctors to use them.
While there are genetic tests that can help doctors and patients, they are rarely used. This has more to do with a lack of knowledge about the tests than their usefulness.
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Mixing presentations on new technologies with insight from leading thinkers in the field the <a href="http://pmwc2012.com/index.php" target="_blank" rel="noopener">Personalized Medicine World Conference 2012</a> – January 23-24 at the Computer History Museum in Mountain View – offers another great opportunity to see what is happening now.
In the lead up to the conference, we’ll be running interviews with some of the featured speakers and advisers. In addition to Felix Frueh, of Medco, we&#8217;ll be talking with <a href="http://www.systemsbiology.org/scientists_and_research/faculty_groups/Hood_Group/Profile" target="_blank" rel="noopener">Leroy Hood</a>, president of the Institute for System Biology, and <a href="http://medicine.duke.edu/faculty/details/0097263" target="_blank" rel="noopener">Ralph Synderman</a>, chancellor emeritus at Duke University’s School of Medicine.
Like previous years, this 4th annual meeting gathers business leaders, researchers and clinicians together to offer real-world insights to successfully incorporating personalized approaches to the practice of medicine.
<a href="http://pmwc2012.eventbrite.com/" target="_blank" rel="noopener">Get your tickets now</a> &#8212; early registrants pay discounted prices, and there&#8217;s an additional discount available here until November 1st.
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To that point, Frueh mentioned that in Medco’s clinical programs where physicians who prescribe one of those drugs are contacted by Medco to inform the doctor about the availability of a genetic test that can help guide therapy, about a quarter of the contacted physicians ended up using the tests.
“To me this means that the physicians or patients are not unwilling to use [genetic testing] but that they quite literally don’t know about it,” he said. “From a pharmacogenomics perspective [the test] is sort of a no brainer.”
Frueh, who works on Medco’s efforts to improve the safety and efficacy of prescription drugs, will touch on some of these same ideas and opportunities early next year at the<a href="http://pmwc2012.com/index.php"> Personalized Medicine World Conference 2012</a>.
Frueh knows the promise of pharmacogenomics having worked previously as the associate director of genomics at the FDA. He helped create the genomics review team for the Center for Drug Evaluation and Research and chaired the first interdisciplinary pharmacogenomics review group.
Medco’s work suggests that testing can be helpful not just for doctors but patients as well, especially when it is targeted to a specific treatment.  <a href="http://www.genomeweb.com/mdx/medco-study-suggests-genetic-testing-improves-patient-compliance-statins">A recent study</a> by the company in collaboration with Quest Diagnostics indicates that patients taking statin drugs to lower cholesterol are more likely to take their medications if they’ve been genetically tested for the KIF6 marker. The variant is associated with better response to statin treatment.
“Basically the idea of the study is whether providing information back to patients has an impact on their adherence to statin therapy,” said Frueh.
It does have an impact, and a significant one at that, he said. This not only improves outcomes for the patients, but it can save a lot of money in health care costs. The company reported in June that patients who took statins as prescribed reduced their health care costs by $944 over a year and a half and lowered their risk of hospitalization or heart problems.
For Frueh this indicates that at least in the case of specifically targeted information related to an on-going treatment, genetic testing can help encourage a patient to change his or her behavior.
It also offers a promising opportunity to personalize medicine now, instead of at some time in the future.
See Felix Frueh and other leaders in this field at the <a href="http://pmwc2012.com/index.php" target="_blank" rel="noopener">Personalized Medicine World Conference</a> in early 2012 (see sidebar for details).

A Prescription for Personalizing Medicine

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More than 800 people packed the auditorium in Silicon Valley’s Computer History Museum for two days this week listening to the impassioned words of the greatest thinkers, movers, and shakers in personalized medicine. It’s a topic that’s easy to get behind &#8212; who doesn’t think that medical care tailored to the individual will result in better care for that individual? &#8212; but it’s been a long, hard road, and not for lack of effort. Making personalized medicine the standard of care will require investment and cooperation from healthcare providers, technology innovators, researchers, policy makers, regulatory agencies, entrepreneurs &#8212; and each of us, healthy and otherwise. The <a href="http://www.pmwc2011.com">2011 Personalized Medicine World Conference</a> certainly played its part, bringing people together from all of these areas for important, eye-opening discussions. 
 
From sessions covering cancer, new business models, regulatory issues, and personal wellness to expert panels looking broadly towards the future of personalized medicine, the conference had a little something for everyone. Some common threads emerged, however: the falling cost of sequencing and other technologies, the rising need for interpretation and tools, and the unsettling disconnect between resources spent on healthcare (or innovation) in the U.S. and treatment outcomes. The vision for personalized medicine is, as <a href="http://www.pmwc2011.com/speakers.php#snyderman">Ralph Snyder</a> of Duke University explained in his opening keynote, &#8220;science serving humanity, one person at a time,&#8221; but we&#8217;re not quite there yet. &nbsp;<a href="http://www.pmwc2011.com/speakers.php#scott">Randy Scott</a> of Genomic Health put the inefficiency of current healthcare systems in stark relief when he said, “we spend billions of dollars every year treating diseases we don’t understand &#8212; poorly.”
<a href="http://www.pmwc2011.com/speakers.php#aspinall">Mara Aspinall</a>, CEO of On-Q-ity, laid down another heavy statistic: drugs work only 50% of the time, and for cancer they only work 22% of the time. This waste has a dollar cost, she continued, but more importantly, a human cost. The field has its skeptics, too, but as <a href="http://www.pmwc2011.com/speakers.php#church">George Church</a> pointed out, the emerging personalized medicine industry won’t be perfect; rather, it will improve iteratively, just like the first televisions, cars, and computers. Church draws additional parallels between personalized medicine and computers, noting that the computing industry didn’t anticipate the power of personal computing &#8212; will personal genomics be similarly underestimated?
Speaking more practically, <a href="http://www.pmwc2011.com/speakers.php#hudson">Kathy Hudson</a> (NIH) put forth the idea of “pilot clinics” that would serve as the testing grounds for new systems and technologies in personalized medicine and pioneer the new standards of care. Lee Hood [http://www.pmwc2011.com/speakers.php#hood], the champion of “P4 medicine” (Predictive, Preventative, Personalized, and Participatory), stressed the need for improved communication, IT infrastructure, and education for both patients and physicians. Attendees also heard arguments for employer-centric as well as payer-centric models of personalized medicine adoption from Vance Vanier, CEO of Navigenics, and <a href="http://www.pmwc2011.com/speakers.php#leisure">Larry Leisure</a> of AccelusHealth Partners.
So after all this, what will be the future of personalized medicine? The most popular panel of the conference posed exactly this question to several giants in the field. Lee Hood painted a future where every individual produces billions of data points over time for the purposes of “wellness” monitoring. George Church took this one step further, saying that everyone would be sequenced (there’s a billion data points right there!) and we’d all have personalized health regimens from birth. For <a href="http://www.pmwc2011.com/speakers.php#byers">Brook Byers</a>, the future is all about networks, from microscopic biological networks affecting disease to social networks affecting healthcare. And in the 2020 that Kathy Hudson envisions, we will all be participating in research, we will all be excited about it, and we will all know what that research means.
As our very own <a href="http://www.pmwc2011.com/speakers.php#wojcicki">Anne Wocjicki</a> noted in her talk Tuesday afternoon, only 5% of people have ever participated in a research study or clinical trial, but every single one of us is an interesting data point and a potential contributor to important scientific discoveries. With 23andMe’s commitment to genetic research and our unique <a href="https://www.23andme.com/research">participant-driven research platform</a>, we hope you’ll agree that, together, we can make that exciting and not-so-distant future happen.
Many thanks to all of the organizers, sponsors, speakers, exhibitors, and attendees for making PMWC 2011 a great success!
Visit the PMWC 2011 website to see the entire conference <a href="http://www.pmwc2011.com/program.php">program</a> and <a href="http://www.pmwc2011.com/speakers.php">list of speakers</a>. To read more about the talks and discussions from PMWC 2011, check out this collection of thoughts on <a href="https://twitter.com/#!/search/pmwc">Twitter</a>.

PMWC 2011 Delivers on Personalized Medicine

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Today, 23andMe received a letter from the  Committee on Energy and Commerce of the  United States House of Representatives asking that, along with Navigenics and Pathway Genomics, we provide information about our genetic testing services. The letter was signed by  Congressmen Henry A. Waxman from California, Chairman of the Committee, Ranking Member Joe Barton from Texas, and the Chairman and Ranking Member of the Subcommittee on Oversight and Investigations, Bart Stupak from Michigan and Michael C. Burgess from Texas.
We look forward to providing information to the Committee and Subcommittee and engaging with them on personal genetic testing, explaining how our services connect people to information about their own bodies, and highlighting the meaningful scientific research we facilitate through our services.
We believe that genetics has a vital role to play in the coming age of personalized medicine, and we view this inquiry as an opportunity to discuss real and important issues that include technology and data quality, scientific rigor, privacy, and accessibility as applied to the rapidly growing body of genetic knowledge.
Through our blog, we will keep you informed of progress on this topic.

Letter from Committee on Energy and Commerce

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A new genetic screening process has helped researchers understand the genetic causes of cancer, such as how mutations accumulated in a person&#8217;s life can cause leukemia.
The study compared a person&#8217;s own DNA to that of their cancerous cells. Using this technique researchers found DNA mutations that may have led to abnormal cell growth, or cancer.
Researchers at Washington University School of Medicine in St. Louis sequenced a single leukemia patient&#8217;s healthy and cancerous DNA. They were able to pinpoint several mutations out of hundreds that appeared likely to have contributed to his cancer&#8217;s development. He is the second patient with acute myeloid leukemia (AML) to have his entire genome and that of his cancerous tissue fully sequenced. Typically only the portions of the genome that are known to be prone to cancer-causing mutations are sequenced.

“If we only look at genes with known or suspected links to cancer, we’ll miss many mutations that are potentially relevant,” co-author Richard Wilson said in statement.
The study by Mardis et al., published in The New England Journal of Medicine,  identified a total of 750 mutations in the patient’s AML genome. Most of them proved irrelevant. However, 64 were likely to be cancer-related. Two previously known mutations were newly linked to leukemia.
<h6>Personalized Sequencing</h6>
Timothy Lay, the senior author of the study, explained that most patients with this type of leukemia are treated similarly, at least in the beginning. This study&#8217;s patient, for example, received various chemotherapy drugs. Defining cancer mutations could help determine which patients need aggressive treatment. So, for example, a stem cell transplant, which could be effectively treated with less intense therapies.
Personalized sequencing of entire cancer genomes is possible now because the accuracy and cost of genome sequencing technology has dramatically improved. This study took only a few months at one-third the cost of the first AML patient, who was sequenced only one year ago.
To date 350 cancer mutations are known, but thousands of cancer genomes will need to be screened to truly explain the genetic basis for cancer. This information could be used not just to guide physicians to the most effective treatment, but also to inform patients about their prognosis.
<h6>Living in the Know</h6>
But do patients even want to know?
A recent study published in the  Journal of Genetic Counseling suggests they do. Researchers found that 98 of 99 patients with ocular melanoma, a rare, untreatable eye cancer, wanted to know. Even if their cancer had a genetic marker that gave them a 50 percent chance of dying within five years. Patients were relieved when the risk was low. However, even when the risk was high they were enabled to plan financially and make the most of their time alive.
This very personalized medicine will continue to be driven by improved diagnostic testing, according to James Downing in a recent editorial in The New England Journal of Medicine. This will identify more predictive disease markers, and lead to new therapies directed at cancer-specific mutations. He believes this technology will likely be used clinically long before we have a complete knowledge of cancer genes.

personalized medicine