<img loading="lazy" decoding="async" class="alignnone size-medium wp-image-10662" src="https://blog-api.23andme.com/wp-content/uploads/2011/12/Young-Man-Listening_Empathy_Prosociality-200x300.jpg" alt="" width="200" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/12/Young-Man-Listening_Empathy_Prosociality-200x300.jpg 200w, https://blogcms.23andme.com/wp-content/uploads/2011/12/Young-Man-Listening_Empathy_Prosociality.jpg 283w" sizes="auto, (max-width: 200px) 100vw, 200px" />
By Bethann Hromatka, Ph.D.
Oxytocin is Greek for “swift birth,” but this hormone – which helps induce labor and promote lactation – has garnered many other names in the media, from the “cuddle chemical” to the “morality molecule.”
The “pro-social” effects of oxytocin on humans has become the subject of innumerable studies of varied reliability that have investigated impacts on trust, generosity, and empathy. But it’s clear that this hormone, which is released into the bloodstream by the pituitary gland, impacts social bonding.
As oxytocin flows through the blood, it communicates with cells by specifically interacting with the oxytocin receptor – a protein on the surface of cells that catches this hormone as it passes by.
Numerous studies link , a SNP in the oxytocin receptor gene called OXTR, to emotional and social processes.Studies have suggested that people with certain genetic variants in OXTR are more sensitive to <a href="https://www.pnas.org/content/early/2009/11/18/0909579106.abstract" target="_blank" rel="noopener">stress</a> and have reduced <a href="https://www.ncbi.nlm.nih.gov/pubmed/20347913" target="_blank" rel="noopener">social skills</a> compared to others. A recent <a href="https://www.pnas.org/content/early/2011/08/30/1113137108.abstract" target="_blank" rel="noopener">study</a> published by Shimon Saphire-Bernstein at UCLA provided evidence that people who carry the A version of are less optimistic and have lower self-esteem. In addition, <a href="https://www.pnas.org/content/107/31/13936.short" target="_blank" rel="noopener">brain scans</a> have suggested that those with these genetic variants are less responsive to social cues than others as well.
Although not proven, there is also some evidence that people who carry the A version of are at increased risk for <a href="https://www.sciencedirect.com/science/article/pii/S0006322305003100" target="_blank" rel="noopener">autism</a>, a disorder characterized by impaired social interaction and communication. Oxytocin is currently being used experimentally to treat children with autism (read more about this <a href="https://www.npr.org/2011/01/03/132473913/scientists-test-trust-hormone-for-autism-fight" target="_blank" rel="noopener">here</a> and <a href="https://www.pnas.org/content/early/2010/02/05/0910249107.abstract" target="_blank" rel="noopener">here</a>).
A new <a href="https://www.pnas.org/content/early/2011/11/08/1112658108.abstract" target="_blank" rel="noopener">study</a> conducted by Aleksander Kogan at the University of Toronto suggests that people one of these variants are readily perceived by others as being less prosocial than others.
A prosocial behavior is any voluntary behavior intended to benefit another person, for instance showing empathy. Kogan and colleagues recruited “observers” to view “subjects” listening to their romantic partners talk about going through a tough time. After only 20 seconds of watching, observers determined how pro-social the subject was.
People with these variants individuals were judged to be less pro-social and displayed fewer nonverbal cues – head nods and smiles – compared to others.
The study suggested that the association between and prosociality was stronger for men, but also true for women.
Even though these findings resonate with numerous studies linking to <a href="https://www.pnas.org/content/107/31/13936.short" target="_blank" rel="noopener">prosocial behavior</a> and <a href="https://www.pnas.org/content/early/2009/11/18/0909579106.abstract" target="_blank" rel="noopener">empathy</a>, they should be considered as preliminary since the study was carried out with a limited number of participants – 23 to be exact and all of European ethnicity. Some geneticists have suggested that this sample size is simply too small to provide meaningful information, but it can also be argued that a very large sample wasn’t necessary because only a single, well-studied SNP was investigated.
Says Kogan,
“Our study benefits from over a dozen studies that have reported findings very consistent with ours using much larger samples from the same general population – Caucasians in the United States.” He also adds, “We are now attempting much larger replication studies.”

Bethann Hromatka

We Care a Lot

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="https://blogcms.23andme.com/wp-content/uploads/2011/11/Ron-Levy-287x300.jpg 287w, https://blogcms.23andme.com/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.”

23andMe Blog

23andMe Blog Team

A Cancer Fighter Gets Personal

<img loading="lazy" decoding="async" class="alignright wp-image-10499 size-medium" src="http://35.88.189.111/wp-content/uploads/2011/11/MomDad-291x300.jpg" alt="" width="291" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/11/MomDad-291x300.jpg 291w, https://blogcms.23andme.com/wp-content/uploads/2011/11/MomDad.jpg 677w" sizes="auto, (max-width: 291px) 100vw, 291px" />
My parents aren’t world-class athletes, but in the summer of 2009 they both competed in the Senior Olympics. They were representing their home state of Wyoming, where people – much less senior athletes – are few and far between.
It was at the Senior Olympics that my parents first encountered 23andMe. The company had set up a booth to test competing athletes, and my parents gladly sent off their spit sample. Both have a background in medicine – my father is a quasi-retired anesthesiologist and my mother is a retired dentist – but neither of them were familiar with the company or had much experience with genetics. Since then, however, they have become huge fans of 23andMe. Given that they were keen on 23andMe years before I started working here, their enthusiasm is more than just supportive parents happy to see their daughter gainfully employed. I asked my dad for his thoughts, both as a customer and as an anesthesiologist.
Genetics is a rapidly changing field, and my father went to medical school many years ago. I was curious what he was taught in school about genetics.
Me: What was your training in genetics?
Garry E. Rains, MD (Dad): In ancient times, when I went to medical school, genetics was mostly descriptions of syndromes, such as Down or Turner, and specific diseases, such as cystic fibrosis or Duchenne muscular dystrophy. As these conditions manifested in children, genetics was a subset of pediatrics. I learned very little of the science of molecular genetics, and still know very little about it. Remember, the Human Genome Project produced its first complete draft twenty-six years after I graduated from medical school.
Considering that genetics wasn’t a huge part of my dad’s training, I was curious if he thought genetics was important in his work and how he decides on the amount of medication that he gives patients.
Me: How does genetics affect your patients’ responses to drugs? For which treatments or conditions do you think genetic testing could be most beneficial?
Dad: Many of the drugs I use as an anesthesiologist manifest a sixteen-fold variability in response to a standard mg/kg dose. A core competency of anesthesiology is to apply monitoring devices to the patient to precisely assess the patient’s response to a drug, and then adjust dosing, and add other drugs appropriately, given the observed response of the patient. Much of patient response variability is driven by patient factors (age, sex, weight) and comorbidities (cardiovascular disease, renal disease, lung disease), plus the vagaries of the surgical procedure.
The patient’s genetics are also a factor. Pharmacogenomics is becoming more relevant to clinical practice every day, and I hope to soon routinely have patient genetic information as part of the preoperative workup. I expect pharmacogenomics to advance rapidly, and for clinical solutions to become available within a few years.
Stratified medicine is already being used in oncology wherein treatments are selected for breast, lung, and colorectal cancer after patient protein measurements. In anesthesiology, we currently try to customize care through the use of precise monitoring. Soon, we will know more about how the individual patient might handle the drugs as molecular profiling advances.
A current debate in the field of genetic testing is how genetic information should be distributed. Some people feel that genetic information should be directly available to consumers; others believe that genetic information should be distributed only by doctors and other trained professionals. I was curious whether my dad, as a doctor, had an opinion.
Me: What do you think of direct-to-consumer genetic testing?
Dad: I think it is a great idea. Personal genetic testing essentially allows one to access one’s medical family history in an expanded and detailed way. That information may be useful in a myriad of ways. Applying the information might require professional medical judgment, just as profitably applying stock quotes might require an investment advisor. In both cases, the decision to utilize professional help should be up to the individual buying the information. The SEC doesn’t regulate stock quotes, and the FDA should not be trying to regulate medical genetics data.
Because my parents have been 23andMe users since the 2009 Senior Olympics, I asked my dad for his reasons for sticking with the company (beyond being the supportive parents that they are).
Me: Why are you a 23andMe user?
Dad: While personal genetics is really just starting, useful information is already available. For example, I found out that I am at increased risk for [age-related] macular degeneration. I now see my ophthalmologist yearly to monitor my retina.
As new information becomes available, some might be actionable pursuant to health maintenance. That is potentially more important than the information I get from my Netflix subscription, and 23andMe costs less than Netflix.
Granted, my dad’s responses should be taken with a grain of salt; he was also wildly enthusiastic about my seventh grade science fair project. That being said, he isn’t the only anesthesiologist who is excited about the impact of genetics. Recently the blog GenomesUnzipped.org included a guest contribution from an anesthesiologist discussing one case study and recognizing the potential influence genetics may have on anesthesiology. At the very least, it seems that the days of genetics being relegated to a subset of pediatrics are over.
23andMe’s services are not a substitute for professional medical or diagnostic advice. &nbsp;Always consult your physician for medical or diagnostic advice.

Father Knows Best

<img loading="lazy" decoding="async" class="alignnone size-medium wp-image-10516" src="https://blog-api.23andme.com/wp-content/uploads/2011/11/Intestinal-Parasitic-Worms-225x300.jpg" alt="" width="300" height="300" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/11/Intestinal-Parasitic-Worms-150x150.jpg 150w, https://blogcms.23andme.com/wp-content/uploads/2011/11/Intestinal-Parasitic-Worms-271x271.jpg 271w" sizes="auto, (max-width: 300px) 100vw, 300px" /> Pinworms–small worms that infect the intestines–are the most common worm infection in the United States.
Although all people are over <a href="https://www.genome.gov/17516714" target="_blank" rel="noopener">99.9%</a> genetically identical, the small amount of diversity that does exist between individuals tends to track with ethnicity.
This is probably pretty obvious–an individual of Japanese ancestry is more genetically similar to another Japanese person than to someone of European heritage.
What might not be so obvious is that genetic diversity arises in the first place from random changes to DNA that are passed down through generations. Although most of these changes do not impact how people interact with their local environments, some changes do and are said to be under evolutionary pressure. Climate, diet, and pathogens are examples of environmental factors that can exert pressure, causing one version of a piece of DNA to become more common in a population than it would be by chance alone.
Variation related to pigmentation–skin, hair, and eye color–is a well-known example of natural selection. Now, a study led by  Matteo Fumagalli from UC Berkeley  and published in <a href="http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1002355" target="_blank" rel="noopener">PLoS Genetics</a> suggests that pathogens have also been an important driver of local adaptation over the course of human evolution. The researchers behind this study scanned DNA from 55 distinct human populations and correlated 500,000 SNPs with environmental factors such as temperature, diet, and pathogen diversity.
Although about 95% of the observed human genetic diversity appeared to be due to non-selective processes, a finding that was not surprising, adaptation to local environments–and specifically to pathogens–also accounted for a significant amount of genetic diversity.
Viruses, bacteria, protozoan organisms that cause malaria and leishmaniasis, and parasitic worms are all examples of pathogens.
The study’s findings suggest that about 100 human genes have been strongly influenced by pathogenic organisms. Parasitic worms seem to have posed the most pressure on human genes. Because worms are complex organisms with longer lifespans than more simple pathogens, they may have co-evolved with people and exerted more pressure on the human genome.
<div style="float: right; text-align: justified; width: 200px; background-color: #eee; padding: 15px; margin-left: 10px;">Natural Selection of Skin Color
The evolution of skin pigmentation is a classic example of how local environments can pressure human genes.
People with more melanin have darker skin tones and survive better–at least without the modern day application of sunscreen–in sunny environments. On the level of DNA, this means that versions of genes associated with more melanin production were selected for in people living in sunny climates.
</div>
Unfortunately, it seems the same genetic adaptations that protected our ancestors from pathogens may now have undesirable consequences in modern societies. Twenty-three of the genes influenced by pathogen-driven selection are involved in the immune system and implicated in autoimmune diseases such as celiac disease, type 1 diabetes and multiple sclerosis. The researchers suggest that versions of SNPs associated with increased risk for autoimmunity may have become relatively common in some populations because they used to protect our ancestors from infection.
This study offers new evidence for the <a href="http://www.scientificamerican.com/podcast/episode.cfm?id=can-it-be-bad-to-be-too-clean-the-h-11-04-06" target="_blank" rel="noopener">hygiene hypothesis</a>, a currently unproven theory suggesting that ramped up immune systems originally evolved to protect people from infectious organisms. As societies devised ways to keep pathogens at bay, however, their immune systems failed to adjust and they began to suffer from immune diseases characterized by too much inflammation.

Is Autoimmunity a Result of Genetic Adaptation to Pathogens?

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="https://blogcms.23andme.com/wp-content/uploads/2011/11/Leroy-Hood.jpg 426w, https://blogcms.23andme.com/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

<img loading="lazy" decoding="async" class="alignnone size-medium wp-image-10396" src="https://blog-api.23andme.com/wp-content/uploads/2011/11/foodchoicesna-300x220.jpg" alt="" width="300" height="220" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/11/foodchoicesna-300x220.jpg 300w, https://blogcms.23andme.com/wp-content/uploads/2011/11/foodchoicesna.jpg 350w" sizes="auto, (max-width: 300px) 100vw, 300px" />
For some, eating a <a href="http://www.livestrong.com/article/86638-nutrition-information-donuts/" target="_blank" rel="noopener noreferrer">doughnut</a> every morning is a recipe for heart attack. For others, the doughnut doesn’t seem to matter–it’s almost as if certain individuals can’t get heart disease even if they try.
 The flip side is that people who are predisposed to heart disease can make lifestyle changes, in this example by cutting down on saturated fats and cholesterol, to decrease their odds of actually experiencing a heart attack. This is because heart disease is caused by a combination of genetic and lifestyle factors like diet and exercise. 
<h6>Genetics and Lifestyle</h6>
As a new paper published last month in <a href="https://www.google.com/url?q=http%3A%2F%2Fwww.plosmedicine.org%2Farticle%2Finfo%253Adoi%252F10.1371%252Fjournal.pmed.1001106&amp;sa=D&amp;sntz=1&amp;usg=AFQjCNG9EjWWh8juy6M7I8g_EpUd-zuN2A" target="_blank" rel="noopener noreferrer">PLoS Medicine</a> illustrates, lifestyle choices can have an even greater impact on heart disease risk depending on a person’s genetics. The study’s findings suggest that diet influences the association between SNPs in the 9p21 region of the genome and risk for heart attack and cardiovascular disease. 
The 9p21 region is one of the most established genetic associations for heart disease, but until now its interactions with environmental factors had not been thoroughly investigated. The current study, conducted by Ron Do of McGill University and the INTERHEART consortium, was carried out with DNA from over 27,000 people of different ethnicities.
A number of <a href="http://www.sciencemag.org/content/316/5830/1491.short" target="_blank" rel="noopener noreferrer">studies</a> have shown that one variants puts you at 1.5 higher odds of having a heart attack. In the current study, people with this variant who occasionally ate raw vegetables and fruit had a two-fold higher risk of heart attack compared to controls with a different variant who ate a similar diet. The surprising finding is that people the higher risk variant who frequently ate raw vegetables and fruit did not experience heart attacks more than controls.
<h6>Ethnicity Matters Too</h6>
The effect of diet on the association between SNPs in the 9p21 region and heart attack risk was strongest for people of South Asian ancestry. The evidence for this effect was suggestive but weaker in the European, Latin American, and Chinese populations studied. Although the researchers also looked to see if smoking and exercise modified the relationship between 9p21 SNPs and heart attack risk, they didn’t find evidence of a connection. 
These findings suggest that people with a predisposition for coronary heart disease, at least based on their genotype at 9p21, can eat a <a href="http://www.mayoclinic.com/health/heart-healthy-diet/NU00196" target="_blank" rel="noopener noreferrer">heart-healthy diet</a> to decrease their chances of actually experiencing a heart attack. Thus, having two risky versions of these SNPs isn’t necessarily a recipe for heart attack. We already know that diet strongly impacts health–indeed there is a reason why your parents told you to eat your vegetables–and this study suggests that diet may actually override genetic risk in some cases.

Eating Veggies Can Decrease Genetic Risk for Heart Attack

<img loading="lazy" decoding="async" class="alignnone size-medium wp-image-10441" src="https://blog-api.23andme.com/wp-content/uploads/2011/09/nervesiStock.jpg" alt="" width="300" height="225" />
From your toenails to your hair follicles, every cell in your body contains genetic information.
Furthermore, each cell (except sperm and egg cells) contains the same genetic information as every other cell in your body. This all-cells-are-created-equal premise, however, is an oversimplification of reality.
Last week a group of researchers, headed by Dr. Faulkner from the University of Edinburgh, <a href="https://www.ncbi.nlm.nih.gov/pubmed/22037309" target="_blank" rel="noopener">showed</a> that the DNA in some brain cells is different from the DNA in other cells due to a genetic phenomenon known as retrotransposons.
Retrotransposons are small bits of genetic information that can move around and multiply themselves in the genome via RNA (a molecule similar to DNA). Imagine the DNA in your cells as a long sentence and retrotransposons as words in this sentence that can be copied and pasted to create new sentences. Suddenly, the genetic equivalent of “The rain in Spain stays mainly on the plain” becomes “Mainly the rain in Spain stays mainly on the plain” with the word “mainly” acting as a retrotransposon. Such extra copies of genetic information are common; approximately half of a person’s genetic code consists of retrotransposons. Sometimes the resulting new genetic sequence is functionally intact, as in the new sentence above. In other cases, however, the changes lead to genetic sequences that are less functional, the genetic equivalent of “The mainly rain in Spain stays mainly in the plain.”
Normally, biological mechanisms prevent retrotransposons from wreaking havoc on the DNA in our tissues — their activity is mainly confined to DNA in sperm and egg cells — but Dr. Faulkner’s team observed that retrotransposons are actively modifying the genetic code in our brain cells. This suggests that the genetic information in our brains changes during a person’s life and brain cells can become genetically different from one another, as well as from other cells in the body. While not a completely novel finding, their study presents some of the most extensive and convincing evidence so far of retrotransposon activity in the brain.
Faulkner’s team went further, however, and was able to identify where — both in the DNA and in the brain — retrotransposons were most active. They found that retrotransposons do not insert randomly within a cell’s genome, but rather they insert into the sections of DNA that encode for proteins more often than you’d expect by chance. One type of retrotransposon (L1 retrotransposons) seemed to be particularly active in and near genes associated with tumor suppression and neuron development, and in the regions of the brain associated with learning and memory.
This new study provides more evidence that retrotransposons play significant roles in human tissues and presents novel insights into their potential biological effects. More research is needed to determine what impact retrotransposons have on normal thinking and memory functions, as well as disease. Nevertheless, it appears that our genetic code, at least in the brain, is less static and uniform than previously believed.

This is Your Brain on Retrotransposons

<img loading="lazy" decoding="async" class="aligncenter wp-image-10321 size-full" src="http://35.88.189.111/wp-content/uploads/2011/11/mosquitona.jpg" alt="" width="350" height="260" srcset="https://blogcms.23andme.com/wp-content/uploads/2011/11/mosquitona.jpg 350w, https://blogcms.23andme.com/wp-content/uploads/2011/11/mosquitona-300x223.jpg 300w" sizes="auto, (max-width: 350px) 100vw, 350px" />
We all know that mosquitoes can be annoying.  In many parts of the world, however, mosquitoes are more than just annoying&#8211;they are killers.  Most people have heard of the mosquito-transmitted disease malaria, which has recently received much publicity through the work of The Bill &amp; Melinda Gates Foundation and other non-profits. Dengue fever is another mosquito-borne disease, and although dengue receives less media attention than malaria, it nevertheless affects 50 million people each year.
Dengue has the greatest impact on those living in the tropics and sub-tropics, where the A. aegypti mosquito–the primary vector of the virus–can thrive. This, however, does not mean that those living elsewhere are unaffected; cases have been reported in southern Texas and Florida.
One of the active areas of research in dengue is investigating the huge variety of responses people can have to the virus. Many infected individuals have no symptoms, while others have mild flu-like symptoms; still others suffer life-threatening complications.  One of these life-threatening complications is dengue shock syndrome (DSS), resulting from leaky blood vessels.  Less than one percent of exposed individuals develop DSS, and whether one develops it depends on many factors, both genetic and non-genetic.
This month, a research team led by Chiea Khor from the Genome Institute of Singapore published in <a href="https://www.nature.com/ng/index.html" target="_blank" rel="noopener noreferrer">Nature Genetics</a> a genome-wide association <a href="https://www.ncbi.nlm.nih.gov/pubmed/22001756" target="_blank" rel="noopener noreferrer">study</a> on susceptibility to dengue shock syndrome after exposure to the dengue virus. They compared 3,855 Vietnamese children with DSS to 4,952 samples from the general Vietnamese population. Khor’s team found several genetic variants associated with DSS susceptibility located near the MICB gene on chromosome 6 and the PLCE1 gene on chromosome 10.
The MICB gene lies in a region of the genome known as the major histocompatibility complex (MHC), which contains many genes involved in the immune system.The PLCE1 gene, on the other hand, has also been associated with a kidney disease called nephrotic syndrome that has some symptoms similar to DSS’s symptoms.
This research shows that the development of dengue shock syndrome depends in part on individual genetics. In addition, the parallels between PLCE1 and nephrotic syndrome suggests common biological pathways may be involved in both diseases. Although more studies are needed to further confirm these discoveries, this paper presents exciting findings for the dengue research community.

Taking Stock of Dengue Shock

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="https://blogcms.23andme.com/wp-content/uploads/2011/11/2snyderman-198x300.jpg 198w, https://blogcms.23andme.com/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.”

Latest Posts — Page 162