Genomic screening may help predict breast cancer survival

Photo by 3dman_eu

Breast cancer patients are often faced with a difficult decision at the end of their primary treatment: Should they get systemic adjuvant therapy, such as the anti-estrogen drug tamoxifen? Such therapies lower the risk that the cancer will come back, but they also carry the risk of potentially serious side effects.

What would be helpful is for physicians to have a way to predict which patients have the best prognosis and might not need adjuvant therapy. Now, researchers from the Lawrence Berkeley National Laboratory may have a solution, according to a study recently published in Oncotarget.

The research team analyzed clinical patient data and large genomic datasets of normal and tumor breast tissues — identifying 381 genes associated with the relapse-free survival of breast cancer patients. With further analysis, they were able to develop a scoring system based on a 12-gene signature that predicts breast cancer survival. Patients with a low score were more likely to live longer.

Senior author Antoine Snijders, PhD, a research scientist at Berkeley Lab, explained in a recent news release:

“Distinguishing patients with good prognosis could potentially spare them the toxic side effects associated with adjuvant therapy. Determining prognosis involves a range of other clinical factors, including tumor size and grade, the degree to which the cancer has spread, and the age and race of the patient. Our scoring system was predictive of survival independent of these other variables.”

The study showed that their 12-gene signature was effective at predicting patient survival for two specific subtypes of breast cancer — luminal-A and HER2 — but it wasn’t effective for other subtypes.

In addition, the researchers identified seven genes as potential tumor suppressors that could be targeted when developing new breast cancer therapies. They hope that their work will help doctors and patients make more informed treatment decisions, as well as help others develop better breast cancer drugs.

This is a reposting of my Scope blog story, courtesy of Stanford School of Medicine.

Head injuries alter genes linked to serious brain disorders, new study shows

Photo by geralt

Traumatic brain injuries, like those caused by concussions, are common. But suffering even a mild brain injury boosts the likelihood of developing neurological and psychiatric disorders, such as Alzheimer’s disease and posttraumatic stress disorder, years later. Exactly how and why that happens remains a mystery.

“Very little is known about how people with brain trauma — like football players and soldiers — develop neurological disorders later in life,” said Fernando Gomez-Pinilla, PhD, a University of California, Los Angeles professor of neurosurgery and of integrative biology and physiology, in a recent news release.

Now, Gomez-Pinilla and his colleagues have discovered that a brain injury harms “master” genes that control other genes throughout the body. This triggers the alteration of hundreds of genes, which are linked to disorders like Alzheimer’s disease, Parkinson’s disease, PTSD, attention deficit hyperactivity disorder and depression. Their study was recently published in EBioMedicine.

In the study, the researchers trained 20 rats to navigate through a maze. They then injected a fluid into the brain of half the rats to simulate a concussion-like brain injury. When all the rats were retested in the maze, the rats with a brain injury took about 25 percent longer than the controls to solve the maze — indicating a change in basic cognitive function.

Next, the team investigated how the brain injuries altered the rats’ genes. They analyzed RNA samples from the rats’ white blood cells and hippocampi, the part of the brain that plays a central role in memory processes. In the injured rats, they found almost 300 genes had been altered in the hippocampus and over 1200 genes in the white blood cells.

More than 100 of these altered genes have counterparts in humans that are linked to neurological and psychiatric disorders. The researchers concluded that concussive brain injury reprograms key genes and this reprogramming could make neurological and psychiatric disorders more likely.

In addition, almost two dozen of the altered genes occurred in both the hippocampus and white blood cells. The researchers hope this genetic signature can be used to develop a gene-based blood test that determines whether a brain injury has occurred and whether future neurological disorders are likely.

They also hope their identification of master genes can give scientists new targets to develop better pharmaceuticals for brain disorders. However, more research is needed to fully understand the role of these master genes. Gomez-Pinilla said he now plans to study the phenomenon in people who have suffered a traumatic brain injury.

This is a reposing of my Scope blog story, courtesy of Stanford School of Medicine.

Feeling fatigued? Your genes may be partially responsible, a new study says

Photo by geralt

How often, in the last two weeks, have you felt tired or lacked energy?

Daily? Never? For me, and I’m guessing for many of you, the answer is somewhere in between.

Researchers posed that question to tens of thousands of study participants to investigate whether tiredness has a genetic basis. They found that genes play a small but significant role in overall fatigue.

The multi-institutional team of researchers analyzed genetic data from the UK Biobank for 108,976 individuals who reported whether they had felt tired in the last two weeks. The participants selected four possible answers, ranging from “not at all” to “nearly every day”; most answered either “not at all” or “several days.”

The researchers found that genetic factors account for about 8 percent of the participants’ differences in self-reported tiredness, according to a paper recently published in Molecular Psychiatry. This implies that tiredness is largely due to other factors, such as not getting enough sleep.

Some inherent factors such as personality traits or poor health can contribute, however. By averaging tiredness across a large sample and performing a genomic-wide association study, the researchers identified genetic links between tiredness and inherent factors — using the UK Biobank’s data on the participants’ physical health, mental health, personality and cognitive functioning.

They found that an individual’s genetic predisposition to some physical and mental illnesses — not just the presence of these illnesses — was associated with feeling tired. For instance, people who were genetically prone to Type 2 diabetes were also prone to tiredness, even if they did not have diabetes.

The authors summarized that tiredness is a “partly heritable, heterogeneous and complex phenomenon,” which requires further research to fully understand. However, they indicate that most people’s differences in tiredness can be attributed to external factors such as the lack of sleep.

This is a reposting of my Scope blog story, courtesy of Stanford School of Medicine.

Genetic counselor offers insights on testing for inherited heart conditions

Illustration by waldryano
Illustration by waldryano

Genetic tests are now available for many conditions — everything from Alzheimer’s to familial hypercholesterolemia. But genetic testing isn’t necessarily the best option for everyone, and some of the tests aren’t highly accurate yet.

However, clinicians agree that genetic testing is important for people with hereditary heart conditions in their families. That’s why Stanford created the Stanford Center for Inherited Cardiovascular Disease, which specializes in caring for patients and their families with genetic disorders of the heart and blood vessels. Genetic counseling is a key part of the center, so I spoke with Colleen Caleshu, MSc, their lead genetic counselor to learn more.

What inspired you to become a genetic counselor?

“When I was in college, I was very interested in the science and molecular basis of disease. I was considering a PhD in genetics, but I was also drawn to peer counseling and psychology courses. When I looked at genetic counseling programs, they required an unusual combination of science and humanities such as psychology, ethics, genetics and biochemistry. Before going to graduate school, I spent a year with a research team that focuses on the psychological impact of familial breast cancer risk — that experience solidified that genetic counseling was what I wanted to do. For me, it comes down to a combination of loving the science and being intellectually challenged by a field that is moving really quickly, while also really being able to help people.”

What cardiovascular diseases does genetic testing identify?

“Genetic testing isn’t yet useful for all diseases or for all people. For cardiology, we recommend genetic testing when a patient is diagnosed with an inherited disease. The two most common inherited cardiac diseases are familial hypercholesterolemia and hypertrophic cardiomyopathy. We also care for patients with several other inherited heart muscle, arrhythmia and aorta diseases. If you put all of these genetic cardiac diseases together, greater than one in a 100 people have one in their genes.”

What is a typical genetic counseling appointment like?

“The clinic appointment is about an hour long. It involves establishing a relationship with the patient and their family to understand: Who are they? What are they experiencing? What are their values? What do they most need help with right now? Then we often shift to the medical side of things with a comprehensive four-generation family history. This involves a lot of detective work with the patient and afterwards — calling family members and searching medical records, death certificates and autopsy reports. The rest of the visit is a mixture of medical and genetics education, as well as psychological counseling. All medical conditions can have a psychological impact, but the genetic nature of these diseases mean they can strike healthy people at an unusually early age compared to most heart diseases. And they have reproductive and family planning implications.

Our genetic counselors also function within a broader, multidisciplinary team, including a cardiologist who gives his assessment, diagnosis and management recommendations. And all of this is based on a separate, hour-long intake appointment with a nurse that happens prior to the clinic appointment. “

How can genetic counseling help?

“Genetic counseling definitely benefits both the patient and the patient’s family — by helping them cope better with the familial heart condition and by helping healthy family members get the necessary medical workup and tests.

For example, a patient came to us a few years ago after being diagnosed with hypertrophic cardiomyopathy. Several generations of his family had the disease, and two of his siblings died suddenly from it a few years apart. He was really wrestling with whether or not to get an implanted defibrillator. He came to our center to get everything we offer.

We had several visits with him and his family members. At one point we had more than 10 family members in the room — the patient, siblings, nieces and nephews — grappling with a lot of pain and grief. We provided grief counseling and we addressed what it meant medically and psychologically for each family member. Using genetic testing, we were able to identify a disease-causing genetic variant in the original patient and his family. By proactively checking the heart of other family members, we were also able to diagnose people who didn’t know they had the disease — including members who went on to get implanted defibrillators to protect them from sudden death. Genetic counseling can absolutely save lives.”

This is a reposting of my Scope blog story, courtesy of Stanford School of Medicine.

Genomic analysis allows researchers to identify three subtypes of prostate cancer

Photograph by Raul654
Photograph by Raul654

Many men with prostate cancer have slow-growing tumors that don’t require aggressive treatments such as surgery or radiation therapy, whereas others have rapidly-growing prostate tumors that are life threatening. Distinguishing between these patients with indolent versus aggressive disease is a major challenge, but researchers have just made a significant step towards identifying genetic risk factors for prostate cancer prognosis.

A multi-institutional research team has identified three distinct molecular subtypes of prostate cancer, which are correlated with survival rates and may guide future treatment planning. Their study results were presented at the annual meeting of the American Society of Radiation Oncology by Daniel Spratt, MD, an assistant professor in radiation oncology at the University of Michigan Heath System.

Spratt explained in a recent American Society of Radiation Oncology press release:

“Tumors that appear similar under a microscope can behave very differently, from a clinical standpoint. One promise of genomic analyses is to elucidate subtypes of cancer based on the genetics of the tumor rather than merely how they look or what size they are.”

The research team analyzed the RNA expression patterns of 4,236 primary prostate cancer samples taken from nine independent groups of men, who had their prostate surgically removed to treat primary prostate cancer. The investigators’ statistical clustering analysis identified three distinct patient groups based on 100 key genes, which they named the Prostate Cancer 100. These study results were then validated using samples from over 2100 patients.

The subtypes were found to be correlated with androgen receptor activity, ERG oncogene expression and other factors known to promote prostate tumor growth. They were also correlated with how long patients survived without metastasis. The distant metastasis-free survival rates varied among the three subgroups — 73.6 percent for group A, 64.4 percent for group B and 57.1 percent for group C — showing that subtype A patients had the most favorable prognosis.

Furthermore, the study found that subtype B and C patients responded significantly better to postoperative radiation therapy, which was used after the prostate was surgically removed in order to kill any remaining cancer cells. This is important because radiation therapy has many potential side effects, including impotence and incontinence.

Spratt summarized in the press release:

“We believe that these subtypes reflect truly distinctive underlying biology and that this work represents a significant advance in our understanding of prostate cancer biology. Moreover, our findings identify numerous genes and enriched biologically active pathways in prostate cancer that have been underappreciated to date but may be potential targets to improve cure rates in this disease by developing new targeted therapies.”

This is a reposting of my Scope blog story, courtesy of Stanford School of Medicine.

“Ultimately about discovery”: High school students experience hands-on biology research

Photo of Seung Kim and former student Emma Herold (Steve Fisch)
Photo of Seung Kim and former student Emma Herold (Steve Fisch)

In high school, most science classes involve students reading a textbook and doing experiments with known answers. Not Bio 470: Biology Research — an experimental molecular genetics biology course developed in partnership with Phillips Exeter Academy in New Hampshire and Seung Kim, MD, PhD, a professor of developmental biology at Stanford.

Kim was inspired to develop this unique high school biology class several years ago after visiting Exeter, his alma mater. He explained in an interview:

“I became aware that they were teaching science in a way very similar to how I’d learned it, which gave me pause as a practicing scientist because it didn’t reflect how science is really done. When we learn things in school, there should be no distance between us and the primary material. When you learn to play baseball or music, you don’t just read about it in textbooks. Instead, you play and try to mimic what professionals do.”

As a result, two Exeter instructors, Anne Rankin and Townley Chisholm, and a few of their students came to Kim’s research laboratory at Stanford the following summer to learn basic techniques for breeding and genetically manipulating fruit flies. Based on this training, the team launched an 11-week biology research course with 12 upper level students per year. The instructors teach the course at Exeter each spring, but both the teachers and students are in regular contact with Kim and his colleague, Lutz Kockel, PhD.

Drosophila, or common fruit flies, are an important model organism widely used in thousands of bioscience laboratories around the world, because these fast-breeding insects share much of our genetic heritage – fruit flies have 75 percent of genes that cause diseases in humans.

In class, students delve into fly genetics, molecular biology and embryology to generate and characterize new fruit fly strains. Kim explained their research:

“People have developed ways to turn genes on or off in fruit flies, using genetic tools that exploit elements from yeast gene control factors; there are whole libraries of these yeast-based genetically-modified fruit flies stocked around the world. But you need more than one independent system, so you can study complicated things like how cells talk to each other or how they interact in time during development. The research goal of our class was to generate a whole new set of genetically-modified fruit fly stock that used bacteria instead of yeast — creating a resource for the scientific community to perform their own research.”

If they succeed, great. But success isn’t guaranteed.

“The students, instructors and researchers don’t know what the outcome will be of their work, so it creates the actual emotions, effort and experience of being a scientist. The goal is to give young people a deeper understanding of what science is, which is ultimately about discovery,” Kim said.

The model worked well for Maddie Logan, an Exeter alumnus who is now a premed undergraduate at Yale University. She called it an incredible experience: “Biology 470 was very different from other classes in that it was 90 percent lab work. Every day we’d come into class, check in with the theory behind what we were doing that day, and then go to the lab benches to do our research. I learned that things in the lab only occasionally go as planned, and a real scientist has to be able to figure out what went wrong and how to correct it for next time.”

After taking Bio 470, a few students like Logan come to Stanford each summer to continue the research in Kim’s lab. “The whole strategy was to not worry about finishing anything in 11 weeks,” said Kim. “Over the last four years, students have accrued reliable data that we’ve now put together into a unique paper.”

Their paper has just been published in the journal G3: Genes, Genomes, Genetics— a major milestone for the project. According to the manuscript’s peer reviews, the students have produced a novel collection of fruit fly lines that will be “very useful to the scientific community to study diverse biological questions.”

Starting this fall, Kim and Lutz are expanding their genetics educational program to include Commack High School, a public school in Long Island, New York. They are also hoping to create a similar biology research course in a “high-needs” high school in the future.

For Kim, the project is a personal passion. “The thing that gives me the most joy is to see students’ faces light up when they really understand and really engage in the scientific process,” Kim said. “I’m trying to get people to see the beauty in science.”

This is a reposting of my Scope blog story, courtesy of Stanford School of Medicine.

Genetics of sea creatures: One researcher uses her science training to help the environment

Photo courtesy of Lauren Liddell

Lauren Liddell, PhD, developed a passion for genetics early at a girls science day at her Michigan middle school, when she extracted the DNA of a banana.

Nearly two decades later, Liddell now works as a postdoctoral research fellow in genetics at Stanford School of Medicine. Unlike most of her departmental colleagues who study health sciences, Liddell is applying her molecular genetics expertise to one of the most critical environmental challenges that we face today: climate change. I recently spoke with Liddell about her research and her participation in the Rising Environmental Leadership Program, a year-round program that helps graduate students and postdoctoral fellows hone their leadership and communications skills.

How did you end up studying sea anemones at Stanford School of Medicine?

As a freshly minted PhD studying molecular genetics, I approached John Pringle, PhD, about working as a postoc in his lab. … Several years ago, John’s passion for scuba diving and overall curiosity led him to shift his research to tackle environmental problems. Specifically, we’re trying to understand sea anemone-algae symbiosis, in the hopes of discovering things that may be useful for coral conservation.

Coral reefs are a poster child for climate change right now, because coral is dying — about 35 percent of the Great Barrier Reef off the coast of Australia is already dead or dying through a process called bleaching. Bleaching is caused by the loss of the symbiotic algae that live in the guts of coral. Normally the gut algae collect energy from the sun and turn it into food that supports the life of the coral host. As ocean temperatures rise and the ocean acidifies, the algae leave the coral host and the coral starves and bleaches — bleached coral reefs are basically the skeletons.

So we use sea anemones in the lab to study coral, similar to how scientists use mice to study human processes. We’re studying Aiptasia sea anemones as a model for coral reef bleaching, because sea anemones are easier to work with in the lab and they have the same gut algae, Symbiodinium, as coral reefs. We want to understand what goes wrong with symbiosis when ocean temperatures and acidity increase.

What have you found?

We’re trying various genetic methods to identify the genes that are important for this symbiosis. We’re also investigating how some corals are able to survive bleaching, whereas others die off. We have two main strains of sea anemones and multiple “flavors” of Symbiodinium algae that we use to test how the different environmental stressors, like heat and acidity, affect symbiosis.

Surprisingly, we’ve found that the Hawaiian sea anemone is less tolerant to heat stress than the Floridian strain. And even more exciting, we’ve found that the Symbiodinium “flavor” can affect the ability of the sea anemone host to resist heat!

Describe your experience with the Rising Environmental Leadership Program?

The Rising Environmental Leadership Program (RELP) is an exciting program for people who are passionate about making a real impact on society. The program included a week-long boot camp in Washington D.C., where we met with Congress, nonprofit organizations like the Nature Conservancy, and governmental agencies like the Environmental Protection Agency and the Department of Energy. … We really got to see firsthand how science research directly informs science policy.

After going through the RELP Boot Camp, what is your dream job?

Originally I wanted to be a liberal arts professor, because I love teaching and getting people excited about science. But moving to the Bay Area really opened my eyes to many other opportunities to make an impact. For instance, companies like 23andMe can help people understand their genetics and what that means for their health.

I’m currently looking for careers in biotech. Once I’ve gained some business skills though, I plan to apply for an AAAS science and technology policy fellowship to get more firsthand experience with policymaking. My RELP experience made it blatantly clear that we need to train the politicians about science, so they can make informed decisions that impact our future.

This is a reposting of my Scope blog post, courtesy of Stanford School of Medicine.

A look at how social media helps connect patients with rare diseases

Photo by Jason Howie
Photo by Jason Howie

If you suffer from a very rare disease, getting the proper diagnosis can be an arduous journey. But a bigger challenge may be the feeling of isolation, since there may not be any support groups where you can connect to someone who is going through the same thing.

That was the situation the Bigelow family found themselves, and they turned to social media for the solution.

Bo Bigelow knew that his six-year-old daughter Tess had a genetic mutation called USP7. She also had global developmental delays in basic functions such as walking and talking, causing her to function at the level of an 18-month year old. Was USP7 the cause of her developmental delays?

Bigelow spread the word about his daughter’s genetic condition to find out, posting on Facebook, Twitter and a personal website with the plea to “help us find others like Tess.” A friend of the family also posted on Reddit, where it was read within 24 hours by a researcher at Baylor College of Medicine who was studying USP7. His research group had already identified seven children similarly affected by the same genetic mutation, and they were about to publish an article about it in Molecular Cell.

Tess may become part of future clinical trials at Baylor, but the researchers also connected the Bigelows to the other seven families. “These days there are ribbons and awareness-weeks for so many diseases,” Bigelow said in a recent KQED Science story, “but when yours is ultra-rare, you feel completed isolated. You feel like you’re never going to hear another person say, ‘Us too!’ And being connected to other families changes all that.”

The KQED piece goes on to explain:

“Patients or parents like Tess’ who are seeking answers to seemingly unsolvable medical mysteries have new tools to reach out, not only on social media, but in crowdsourcing websites like CrowdMed, a subscription service for people seeking answers to medical conundrums. At CrowdMed, people who have symptoms but have yet to find a diagnosis seek opinions from the site’s “medical detectives,” only some of whom are medical professionals.”

This is a reposting of my Scope blog story, courtesy of Stanford School of Medicine.

Imaging study shows genetics and environment affect different parts of the brain

Photo by AdinaVoicu
Photo by AdinaVoicu

One of the oldest scientific debates is “nature versus nurture” — do inherited traits or environmental factors shape who we are, and what we do?

So far it’s a draw.

For instance, a massive meta-study, reported in Nature Genetics, quantified the heritability of human traits by analyzing more than 50 years of data on almost 18 thousand traits measured in over 14.5 million pairs of twins. They determined that heritability accounted for 49 percent of all traits and environmental influences for 51 percent.

They essentially found that genes and the environment play an equal role in human development. But that isn’t the end of the debate.

Researchers in Osaka University Graduate School of Medicine in Japan have now added a new twist. They used positron emission tomography (PET) to examine how genetics and environmental factors affect the brain, as reported in the March issue of Journal of Nuclear Medicine.

The researchers used PET imaging to measure the glucose — or energy — metabolism throughout the brain. The authors explained their motivation in the JNM article:

“The patterns of glucose metabolism in the brain appear to be influenced by various factors, including genetic and environmental factors. However, the magnitude and proportion of these influences remain unknown.”

The researchers studied 40 identical twin pairs and 18 fraternal twin pairs. Any differences between identical twins is expected to be due to environmental factors since they are genetically identical, whereas fraternal twins only share half the same genes on average.

The researchers compared imaging results between the two types of twins to estimate the extent of genetic and environmental influences. When a genetic influence is dominant, the identical twins would have more trait similarity than fraternal twins. When an environmental influence is dominant, the trait similarity would be the same for identical and fraternal twins.

The researchers found that both genetic and environmental factors influenced glucose metabolism in the brain, but they predominantly affected different areas. Genetic influences played a major role in the left and right parietal lobes and the left temporal lobe, whereas environmental influences were dominant in other regions of the brain.

The brain’s parietal lobes process sensory information such as taste, temperature and touch, and the temporal lobes process sounds and speech comprehension. More research is needed to understand why these areas of the brain where influenced more by genetics.

In addition to adding new information to the “nature verses nurture” debate, these results could be applied to other research areas, such as using imaging to better understand the underlying cause of Alzheimer’s disease or psychiatric disorders. Identifying which regions of the brain are more influenced by genetics or the environment may add critical information to help better understand and treat diseases.

This is a reposting of my Scope blog story, courtesy of Stanford School of Medicine.

How Damaged Is Your DNA?

Summary of the factors that cause DNA damage and the associated diseases. (Courtesy of Sylvain Costes)
Summary of the factors that cause DNA damage and the associated diseases. (Courtesy of Sylvain Costes)

DNA stores the genetic information in each living cell, so its integrity and stability is essential to life.

DNA is constantly being damaged by environmental factors like exposure to ionizing radiation, ultraviolet light and toxins. DNA replication is also prone to error during normal cell division. So your body is busy constantly repairing damaged DNA. However, sometimes this normal DNA repair process fails, causing DNA damage and genetic mutations to accumulate which leads to serious health problems like cancer, immunological disorders and neurological disorders.

If your annual checkup included a simple blood test to determine how much DNA damage you have in your body, you may be able to optimize your long-term health by taking action to minimize DNA damage due to your diet, exercise and environment.

A start-up company called Exogen Biotechnology wants to provide the public with a way to monitor their DNA health, so they can act to reduce their DNA damage. Exogen has developed technology that can rapidly quantify a type of DNA damage called double-strand breaks.

“DNA double-strand breaks are when the two strands of the DNA are cut, so they can move apart,” explained Sylvain Costes, a Staff Scientist at Lawrence Berkeley National Laboratory and co-founder of Exogen.  “This is linked to mutation and chromosome rearrangement, so it’s a big deal – it’s the dangerous type of DNA damage. That’s what we look at.”

Exogen’s DNA damage measurement is based on technology developed over 15 years ago called immunocytochemistry – a technique that uses a primary antibody that recognizes the protein that is repairing the DNA break, along with a secondary fluorescent antibody that binds to the primary antibody. This creates bright spots in the microscope image where there are double-strand DNA breaks, so scientists can take a picture and count the breaks.

Exogen is moving this technique out of the laboratory to make it publicly available. They have significantly improved the technology, so that it’s feasible to rapidly test small blood samples for the level of DNA double-strand breaks. A customer collects tiny blood samples using an in-home kit, combines the blood samples with a fixative solution to preserve them, logs on to the Exogen website to register the samples and complete the questionnaire, and mails the samples to Exogen for analysis.

Exogen tested their new technology in two pilot studies with a total of 97 people. They observed a significant increase in the level of DNA damage with age, where 70 year olds had double the number of DNA double-strand breaks compared to 20 year olds. The four people who had suffered from cancer also had a higher level of DNA damage compared to others in their age group.

“When we did the first pilot study, we saw the excitement of the people,” said Costes. “They realized that this is something totally new; something we know in the research field, but that’s never been given to the people.”

Inspired by the initial pilot studies, Exogen wants to build a large database of DNA damage levels for research purposes so they can better understand the meaning of an elevated level of DNA damage and how certain factors affect DNA health. Of course, their data collection process and database are secure, encrypted and fully HIPAA compliant.

In order to get the necessary blood samples, they are currently running a crowdfunding campaign on Indiegogo. People that donate $99 receive a kit to safely collect three blood samples at home, and then they receive a report on their current level of DNA damage. Exogen is calling the campaign a “citizen science project” since volunteers also fill out questionnaires about their medical history and lifestyle. They’ve already collected $76,000 and the crowdfunding campaign runs through March 26. They plan to spend the money on a microscope and liquid handler, which will allow them to fully automate their system so they can analyze up to 400 blood samples per day.

Currently, Exogen can’t interpret the results or give people advice about how to lower their DNA damage, because the Food and Drug Administration (FDA) hasn’t approved them as a diagnostic test. The goal of the crowdfunding campaign is to collect blood samples from 1000 people so they can go to the FDA.

“Once we have FDA approval, we can start counseling,” said Costes. “Primary care doctors can start engaging and testing it further with their patients, because we’ll provide a guideline to help them understand what it means.”

Costes stressed that their test is very different from genetic testing provided by companies like 23andme. Exogen isn’t looking at the genetic makeup. Instead, they are looking at a physiological response, so they compare it to a cholesterol test.

“To me this is identical to cholesterol,” clarified Costes. “Your genetics places you in a certain range, but your lifestyle can change where you are within that range. In contrast to genetic testing, we feel like this test can bring hope because you have a way to act.”

One of their applications is to determine how DNA damage is affected by lifestyle factors like diet.  Exogen plans to study a group of people for a long time to better understand how DNA damage correlates with specific diseases and with health improvements due to people’s actions. They want to evaluate whether people can improve their DNA health by changing their lifestyle or environment, instead of their fate being driven entirely by genetics.

However, none of the exciting applications can happen until Exogen collects data from a larger number of people. “We need your help to make it happen,” Costes concludes. “We can’t do it alone.”

This is a repost of my KQED Science blog.

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