Category Archives: Genetic Medicine

Penn Medicine has positioned itself at the forefront of genomics and immunotherapy, but capitalizing on the promise of personalized medicine has required extensive investments in the medical center's IT infrastructure, said Brian Wells, Penn' associate vice president of health technology and academic computing.

Wells, who will speak June 12 at the Healthcare IT News Precision Medicine Summit in Boston, explained some the technology innovations Penn Medicine has made as it works to improve integration with its electronic medical record, use analytics tools to mine unstructured data and offer real-time decision support.

Q. Talk about Penn Medicine's journey to where it is today.

A. Penn Medicine has been around a long time: first hospital in 1751, first med school in 1765. I guess all of that leads up somewhat to where we are today. In 2010 or so, Penn began to emerge as a powerhouse in the genetic engineering and immunotherapy space.

In 2013 we capitalized on that when we published our strategic plan, one of the big pillars of which was precision medicine. We brought in a vice dean for precision medicine and really began to focus the energy of the organization, around building the technology infrastructure and the clinical and research expertise to excel in that space.

[Also:Precision medicine, population health will bring everyone to the cloud]

Our cancer center director, in conjunction with the chair of pathology, who came from NYU, put together what we call the Center for Personalized Diagnostics. This was one of the first local area efforts to build a CLIA-certified genetic testing lab that was going to focus on testing of solid and blood-borne tumors to find the genetic makeup of the tumor and tailor the treatment based on those findings.

That, along with immunotherapy work that was being driven by Carl June (director of translational research at the Penn's Abramson Cancer Center), really were the things that launched that initiative and created a focus on precision medicine.

Around that time I also was asked to focus on the infrastructure and data for the school of medicine. I was asked to bring together common systems, common approaches and centralized management of infrastructure and data for the school of medicine.

My to-do list was building and buying technologies that the school would need on the research side, that would intersect with the clinical side. That is a lot of what I'm going to be talking about in Boston what we've done, and what we have left to do. I'll be focusing on the research aspect of IT and what it takes to build a research enterprise that can support precision medicine, and then what it takes on the clinical side to build a clinical infrastructure to support precision medicine.

Q. When you first took at the scope of what you had to do, what were some of the gaps you saw?

A. I think one of the first big gaps within the school is that there was not a centralized team. Typically in schools of medicine, IT is a regional thing it grows up within a lab or a division or a department within the school. Maybe radiology has their own people and pathology has their own people and the cancer team has their own people and they're not integrated.

One of the first things we did was to say, look, we're not going to get down this road to precision medicine if we don't have centralized support and a holistic view of IT within the school. And that team must report to the CIO.

[Also:Genome editing has a long way to go before widespread buy-in]

We have one CIO, and one consolidated budget for IT investments across the school and the health system. So that's what we did, and that's what I worked really hard for. By the middle of 2012, we were able to announce the formal creation of this team we called Penn Medicine Academic Computing Services. And now it's grown to 100 people who are dedicated to the school's IT needs, from desktops to servers to storage to applications.

The other thing we did was ask, what are the high-priority applications that the school didn't have? For example they didn't have a common laboratory information management system. They didn't have a common sample management, sample inventory, sample tracking system. They didn't have a data warehouse to aggregate and collect all the data and put it in one place to then link back to the clinical data. It was difficult for researchers to get access to clinical data in an easy way.

We didn't have a way to share our de-identified data with industry partners who could search that data and identify patient cohorts at Penn that could be used for bringing sponsored trials to Penn.

We didn't have an enterprise-wide clinical trial management system that was integrated with our EMR. We just accomplished that, in fact, about two or three months ago.

So there was a litany of things. Some of them were small, some of them were big. But the biggest thing was the culture. We didn't have a culture of common systems and central management and collaboration with our faculty to really build this suite of tools that we were going to use and share and contribute to.

We were able to prove that by putting all the data in one place it created an exponential increase in value. Sort of like Metcalfe's law: The more nodes on a network, the more valuable the network is. The more genetic data we put in one big repository, the more useful that repository was to everyone.

There was some resistance. There were folks who said, "I'm not going to share my data because this is my research and I haven't published it yet." And so you can't know what my samples are and you can't have my genetic results. We had to prove to people that we could protect that data, we could limit access to it, but still put it in one central place that everyone could get to. At least to look through and find cohorts of interest to them not actually take the samples and not actually use the data for anything, but at least be aware that it existed to stimulate additional research.

Q. What were some of your priorities with regard to EMR integration?

A. There were several places where we wanted to integrate with the EMR. One is in tracking patients on trials: You want to know who's enrolled, and the fact that they're on a study, and which study are they on, who's the principal investigator, who do I contact?

That was a big piece for us. We just went live with that a couple months ago. We're actually the first in the country in an academic environment to have a two-way interface between our EMR and our trial management system that we can track enrollment. So you can enroll or unenroll a patient in either system and they keep each other in sync. That's really key, all the clinicians know what patients are on what trials and they can be aware of their participation in a trial while they're working in the EMR.

Another big piece because we have to make sure we're compliant in how we get paid is the whole research billing aspect.

So we're now doing our research billing reconciliation within the EMR. Every day our study coordinators are looking at the charges that have come in for the patient so the right charge gets billed to the study and the right charge gets billed to the patient and/or their insurance company. That has become infinitely simpler now with the integration with our EMR.

Another big area of integration that we're still working on, and no one has completely solved yet, is the ability to bring genetic results into the EMR discretely and store them in a discrete way so that you could write rules against them: You could provide alerts to providers that say, 'This patient has a certain genetic makeup that makes them a high-metabolizer of nicotine so if you are considering giving them a patch or Chantix, you might want to go with Chantix because it provides more nicotine replacement than a patch might.

There are those types of genetic results that we still can't today find a place to store in the EMR, but we're working with our vendor to try to fix that and we're hoping we'll find a solution soon.

Another big piece is that we still do send a lot of or genetic testing out to external labs, and that data is not flowing electronically, either outbound or inbound to us as far as what's been ordered and what the results are.

Those are things that are on our docket to work on, but we do need the help of our vendors to make that happen.

Q. What advice do you have for smaller organizations looking to try some similar precision medicine initiatives?

A. I would be inclined to outsource the whole thing. I would go find an academic medical center and either outsource it to them, or find a partner you trust. For example there's a company called Tempus in Chicago that's attempting to be a pretty high-powered genetic processor and precision medicine company.

If you're a small community hospital or someone without an academic arm, you need to find a partner that can manage and explain this to you, because it's not easy. Even our own clinicians at Penn that are not actively working in the pathology and genetics space need help interpreting the findings.

I would not try to build this myself. There's just too much knowledge that you just don't have in your local environment.

Q. What's next for precision medicine at Penn?

A. The EMR integration of genetic results is number one on my list. I really want to prove that that can be helpful. I'd like to build what we call molecular decision support so we have the logic and the rules in place to do several things.

One, if we have genetic data in the EMR, we can do a better job of recruiting patients into trials, because of their genetic makeup, at the point of care. We can do better decision-making around testing and prevention and additional sequencing work if the data is in the EMR.

But it has to be presented in a way that's clear and understandable. Providers need to understand it. It can't just be a bunch of numbers, there has to be some textual explanation of what this means and what the options might be.

Another one is continuing to refine how we capture data in the EMR to make it more and more discrete all the time. There's a very healthy tension between capturing more discrete data and slowing down the visit, so we're trying to find ways to mine more data out of the EMR using natural language processing and unstructured data analytics tools.

And we're also trying to find out if we can strike that balance between how much is discrete and how much is not. Even things like figuring out the stage and grade of the tumor is not consistently stored in a field that is discrete and easily reportable.

A lot of patients don't get their care all in one place. They may get their care outside of the enterprise and then come to Penn bringing paper reports with them. That stuff is hard to work with as well. So as we look at health information exchange, and trying to get more discrete data electronically, those are all areas that are on tap to be resolved.

Q. How do you expect precision medicine to evolve in the coming years? Will it get easier with the right technology infrastructure in place, or get more challenging as genomics knowledge evolves and becomes more complex?

A. I don't think it's going to get easier. It's going to get more and more complicated. There's going to be more and more discoveries, more and more genetic data that's going to be determined, more and more markers that are going to be identified, there's going to be combinations of markers, and there's variations in timing and sequence you had this marker early on in your cancer and it moved to this I don't think it gets any easier.

I think we need standards defined with regard to genetic data and how it's stored discretely and how it's transmitted discretely to various enterprises, and I don't think we're really there yet.

We've got regulations and ethics issue about data sharing how much do we have to share with your children and your parents about you, and can we get access to your parents' genetic data or is that considered protected health information that we're not allowed to have because we're not treating them? There's all kinds of challenges in the ethics and legal space as well.

Twitter:@MikeMiliardHITN Email the writer: mike.miliard@himssmedia.com

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How Penn Medicine primed its IT infrastructure for precision medicine - Healthcare IT News

May 31, 2017 09:00 ET | Source: American Gene Technologies

ROCKVILLE, Md., May 31, 2017 (GLOBE NEWSWIRE) -- American Gene Technologies International Inc. (AGT), a gene technology company with a broad and robust lentiviral delivery platform, today announced that Jeff Galvin, CEO, will present at the upcoming Health Information Management System Society (HIMSS) Precision Medicine Summit, being held from June 12-13, 2017, in Boston. Mr. Galvin will share his vision for the future of healthcare led by advances in gene and cell therapy in a presentation entitled, The Democratization of Healthcare Viva La Revolution, at 3:20 p.m. EDT on June 13, 2017. The talk will reflect on the current and upcoming advances in biotechnology that parallel the rapid and transformative advances seen in the information technology sector.

Im excited to present at the upcoming HIMSS Precision Medicine Summit where I will show how the accelerating development of highly effective gene medicines, coinciding with the proliferation of patient data and genetic diagnostics, will drive the revolution in precision medicine, said Jeff. Attendees will get a vision of the coming disruption of traditional pharmaceutical development that will soon become a key driver in Pharma, the investment community, healthcare delivery, and government policy; while yielding life-changing solutions for patients and society.

Presentation material will be available after the Summit.

American Gene Technologies American Gene Technologies International Inc. (AGT), is an emerging genetic medicine company with a proprietary lentiviral platform capable of broad applications including: large and orphan indications, immuno-oncology, and monogenic disorders. AGT will enter the clinic in 2017 with a Phase 1 clinical trial to evaluate AGT103 as a functional cure for HIV. Pre-IND applications for phenylketonuria and hepatocellular carcinoma will follow.

These therapies demonstrate the breadth of AGTs unique lentiviral platform, including such innovations as a Transient Lentivector for temporary expression and an ImmunoTox vector for stimulating anti-tumor immunity in immuno-oncology applications. More information can be found at http://www.americangene.com.

HIMSS Precision Medicine Summit HIMSS Precision Medicine Summit provides attendees with the tools they need to address the challenges of precision medicine particularly as providers and care delivery systems seek to leverage the analytics and therapeutics that will increasingly reshape healthcare. See http://www.theprecisionmedicinesummit.com for more information.

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Rockville, Maryland, UNITED STATES

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American Gene Technologies Inc. (AGT) CEO, Jeff Galvin, to Present at HIMSS Precision Medicine Summit - GlobeNewswire (press release)

With little fanfare, the Food and Drug Administration did something this week that it's never done before: The agency approved a single prescription drug, pembrolizumab (marketed by Merck as Keytruda) for treatment of solid tumors in any organ so long as the malignancy bears a specific genetic signature.

In the fast-moving field of cancer treatment, the FDAs announcement marks an important milestone, close to two decades in the making. Increasingly, cancer will no longer be identified, categorized and treated by the organ it inhabits, or in which it first gained its foothold. In a shift that is already underway, cancers will be known by and treated for the common genetic mutations that nurture and sustain them.

In clinical trial evidence cited by the FDA this week, pembrolizumab induced complete or partial tumor shrinkage in about 40% of patients with one of 15 end-stage malignancies. And for 78% of those patients, that response lasted six months or more. A trial reported earlier this year found that in 17 of 30 advanced cancer patients, pembrolizumab stopped or reversed the progression of cancer, and 24 patients were still alive a year after starting the drug.

All of those subjects, of course, had cancers with the genetic mutation that pembrolizumab is designed to target.

In the treatment of patients with metastatic cancers that have failed all other treatments, that record of success constitutes a home run, said Dr. Bert Vogelstein of Johns Hopkins Universitys Kimmel Cancer Center. Vogelsteins 1993 research laid the groundwork for the discovery of pembrolizumabs broad cancer-fighting powers.

With the FDAs announcement, drugs like pembrolizumab have also begun to change the way that physicians, patients and government regulators think of cancer. No longer will they see all cancers of the lung, breast, colon, brain, liver, pancreas and prostate as distinct from one another. Instead, they will look for the common genetic mutations that give rise to cancers no matter where theyre found. And theyll treat those cancers with a drug that uses that common signature as a homing beacon, either for the immune system or for targeted cancer drugs to attack.

Its a key principle of whats called precision medicine the idea that cancer therapies should zero in on a tumors specific molecular fingerprint, and not, as most chemotherapies do, harm healthy cells in the process of attacking malignant ones.

In the cancers pembrolizumab treats, the mutations occur in the complex of genes that govern DNA repair. Deficiencies in the DNAs mismatch repair system generate mutant proteins on the surface of cancer cells, and pembrolizumab trains the immune system to attack those targets. The mutations that make pembrolizumab effective had already been found in melanoma, non-small-cell lung cancer, head and neck cancer and Hodgkins lymphoma, and the FDA had already approved the drug for those cancers before this week.

But this weeks FDA approval goes further: It makes clear that the drugs molecular targets are also common in colorectal, endometrial and gastrointestinal cancers, and less frequently present in cancers of the breast, prostate, bladder, and thyroid gland.

All told, scientists believe about 4% of advanced cancers bear the genetic signature that would make them treatable by Keytruda.

The appearance of such a cancer workhorse will bring about profound changes on the cancer landscape not just for patients but for researchers and drug regulators as well.

Organizations representing, say, people with pancreatic cancer will make common cause with groups that advocate for colorectal cancer patients. In cancer centers, specialists in, say, melanoma will start (in fact, have already started) treating patients with a range of other cancers. When drug companies and their academic partners set out to test the effectiveness of a prospective cancer drug, theyll have to recruit trial subjects using a new and much less obvious criterion than theyve used in the past: the genetic signatures their tumors bear.

Even before the FDAs announcement this week, all these processes were underway. The FDAs decision recognizes that fact, said Dr. Svetomir Markovic, an immunologist at the Mayo Clinic in Rochester, Minn., who specializes in treating melanoma.

But the decision also puts cancer physicians as well as insurers, who will be called on to pay Keytrudas $100,000-per-year price tag on notice that a new era is at hand, said Markovic.

The field of cancer medicine is changing at lightning speed, he said. Physicians are having a hard time keeping up, and I can only imagine that people who are regulating it are doing the same, he added. But this decision by the FDA is really wonderful: It has made it easier for us to secure treatment for our patients who may have run out of options that may help.

Two other immunotherapy drugs have been approved for cancer treatment nivolumab (marketed as Opdivo) and ipilimumab (Yervoy) but neither has been shown to treat cancers across such a broad spectrum. Several other immunotherapy drugs are in early trials, and could yet prove to be the sort of workhorse that pembrolizumab appears to be.

In many ways were at the end of the beginning of immunotherapy: Theres clear benefit but its still a minority of patients that get long-term benefit, said Markovic of the Mayo Institute. We will get better at this.

Markovic suggested that the newly recognized powers of pembrolizumab, as well as the FDAs new openness to cancer drugs that blur traditional distinctions, could prompt drug companies, physicians and patient groups to take a second look at some abandoned cancer drugs. With a clearer idea of which patients they might help, and a willingness to design and conduct innovative clinical trials, some failures may look more promising, he said.

We just needed to take the first step in showing that this long-believed theory that the immune system can kill cancer is true, Markovic added. It indeed can.

melissa.healy@latimes.com

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Immunotherapy drug opens a new era of precision medicine for cancer - Los Angeles Times

The gene-editing technique CRISPR Cas-9, hailed as a major breakthrough for genetic modifications, may be introducing hundreds of previously unknown mutations into the DNA. A small study has found that the new method maycause mutations in off-target regions, but it's still too early to know if this is a common occurrence or an anomaly.

Hailed as one of the biggest advancement in genetics in recent times, CRISPR is an amazingly powerful tool that is now used across much of the field, and is even being trialled in humans in China. It has risen to such popularity due to its ability to quickly and easily identify the region of the genome that's to be altered and then precisely cut or insert other bits of DNA at this point.

When testing to see whether CRISPR is having any unwanted effects on other regions of the DNA, previousresearchers didn'tactually scour the entire genome. They used a computer model that predicted where the mutations may occur and then checked these areas to see if there wasanyunintended changes to the genetic code. By doing this, the scientists found that CRISPR seemingly causes little to no unwanted mutations, one of the reasons it gained so much popularity.

But a team of scientists from Columbia University Medical Center wanted to see if this held true across all of the genome. They took two mice that had CRISPR used on them and sequenced their entire genome, before comparing it to a mouseused as a control. The use of CRISPR had successfully cured the rodents of blindness, but it had also alteredother parts of the genome.

The researchers found over 1,500 single-nucleotide mutations, in which just one base pair (either ATCG) had been changed, and over 100 more significant mutations involving either deletions or insertions. It is important to stress here that mutations to our genome are an ongoing process, and no side effects were reported in the mice from the study, but it is still of some concern.

The study was very smallinvolving just two gene-edited animals and one controlso the results could be down to a number of things, including the way in which CRISPR was actually used on them. Further experiments would need to be done in order to test whether or not the issue is more widespread than previously thought.

Either way, the researchers dont think that people should stop using the technique. We're still upbeat about CRISPR, explains study author Dr Vinit Mahajan in a statement. We're physicians, and we know that every new therapy has some potential side effects but we need to be aware of what they are.

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Gene-Editing Technique CRISPR-Cas9 May Be Causing Hundreds Of Genetic Mutations - IFLScience

Eating disorders affect millions of people in the United States, and anorexia nervosa is considered to have the highest mortality rate of all psychiatric conditions. For the first time, new research identifies a genetic location that helps to shed more light on the causes of this illness.

Anorexia nervosa is an eating disorder that affects both genders. However, the disorder is two and a half times more likely to occur among women, with almost 1 percent of U.S. women being affected.

Moreover, anorexia - along with other eating disorders - is reported to hit the transgender community relatively hard; around 16 percent of transgender college students reportedly have an eating disorder.

Eating disorders are a serious mental health issue caused by a variety of complex factors, from psychosocial to genetic and biological issues.

Anorexia can be a deadly disease. Of all mental health disorders, anorexia is linked with the highest mortality rate. Death can be a consequence of not receiving treatment, but 1 in 5 anorexia-related deaths are a result of suicide.

New research identifies, for the first time, a significant genetic location that underpins anorexia. Researchers from the University of North Carolina (UNC) School of Medicine in Chapel Hill conducted a genome-wide study in an effort to identify the genetic basis for this psychiatric condition.

The new research was carried out by the Psychiatric Genetics Consortium Eating Disorders Working Group - an international group of researchers from institutions all over the globe - and the team was led by Cynthia Bulik, Ph.D., founding director of the UNC Center of Excellence for Eating Disorders and a professor at Karolinska Institutet in Stockholm, Sweden.

The findings were published in the American Journal of Psychiatry.

The research consisted of a genome-wide association study examining the DNA of 3,495 people with anorexia nervosa and 10,982 people without.

In genetics, the word "association" refers to a situation in which specific genetic variations - or single nucleotide polymorphisms (SNPs) - are found more frequently in people with a certain disease.

Using standard association analysis, Bulik and team calculated the genetic correlations between anorexia nervosa and 159 psychiatric, education, and metabolic phenotypes. "Phenotypes" refer to the set of observable characteristics that are a result of the interaction between our genes and the environment.

Bulik defines genetic correlations as "the extent to which various traits and disorders are caused by the same genes."

Overall, the study looked at 10,641,224 SNPs.

The study revealed strong associations between anorexia and psychiatric as well as, surprisingly, metabolic conditions.

Bulik and colleagues uncovered a genetic locus on chromosome 12: rs4622308. This genetic area has previously been associated with type 1 diabetes and autoimmune disorders, report the authors.

"Anorexia nervosa was significantly genetically correlated with neuroticism and schizophrenia, supporting the idea that anorexia is indeed a psychiatric illness. But, unexpectedly, we also found strong genetic correlations with various metabolic features including body composition [...] and insulin-glucose metabolism. This finding encourages us to look more deeply at how metabolic factors increase the risk for anorexia nervosa."

Cynthia Bulik

Additionally, the study found positive genetic associations between anorexia and educational achievement, as well as high-density lipoprotein cholesterol - that is, the "good" kind of cholesterol. They also revealed negative correlations with the phenotypes for body mass index (BMI), insulin, blood sugar, and lipids.

The authors note that the large scale of the study enabled them to come up with "the first genome-wide significant locus" for the disease.

"In the era of team science, we brought over 220 scientists and clinicians together to achieve this large sample size. Without this collaboration we would never have been able to discover that anorexia has both psychiatric and metabolic roots," notes co-author Gerome Breen, Ph.D., of King's College London in the United Kingdom.

Learn how deep brain stimulation may be an effective treatment for anorexia.

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First genetic location found for anorexia nervosa - Medical News Today

Imagine a world without cancer. Could genetics be the cure?

In the not so distant future, precision medicine may prove to be the cure we are all waiting for. Indiana University School of Medicine is at the forefront of that research, using a persons own genetic makeup to individualize cancer treatment.

Beyond Indiana University's historic Sample Gates in Bloomington, researchers have launched a $120 million initiative to cure cancer.

Launched just last year, the Precision Health Initiative's ambitious goal is to cure one cancer.

The director, Dr. Anantha Shekhar, insists this is the future of medicine. What are they doing?

IU's Simon Cancer Center and Riley Hospital for Children are decoding genetic variations leading to major breakthroughs in medicine.

Dr. Shekhar explains, We are finally able to use the genetic information in a person to actually anticipate what might be the best treatment for them.

How? By taking cancer tissue from a person and reading their entire genetic code. In technical terms, sequencing the genome.

In laymans terms, think about our alphabet of 26 letters that make up words. Then imagine that each persons genetic code has 30,000 genes and three billion alphabets. And just like spelling mistakes in words, Shekhar says researchers are reading this sequencing and looking for specific errors in that spelling. If there are errors, then those kinds of mistakes in the alphabet will create mutations which then cause cancer. We can get a person's tumor's genetic code read within a week and know from that, what specific mutations have occurred.

In the first year of the Indiana University initiative, that genetic sequencing has led to almost miraculous stories which Dr. Shekhar has shared with medical students at IU, Notre Dame and around the state.

Stories of an Indiana man and an Indiana child whose families were both told to call in hospice and get their affairs in order.

A 6-year-old girl he calls Emma complained of stomach pain, like many children do.

He explains that Riley doctors found much more. She ended up getting a CAT scan and eventually an MRI. Turns out she had a very rare form of ovarian cancer.

The cancer had spread from her ovaries throughout her body, and Emma did not respond to chemotherapy, so Riley doctors sent her cancer tissue for genetic interpretation. What it turns out is that they found a very specific mutation in that tumor which is seen in some rare forms of lung cancer in people who smoke for years.

Riley got permission from the FDA to treat Emma with a newly released lung cancer drug with stunning results. They treated her with this compound, and within four weeks the tumor started melting away and within eight weeks she was completely free of all tumor," Shekhar says. "She is still disease free and happily going to school.

The second IU Precision Health success story is of a 62-year-old man diagnosed with thyroid cancer. Dr. Shekhar calls him Mr. Smith. His cancer had spread into his chest cavity and lungs. They were told to really finish all of his affairs and get into hospice. And he was told he probably had six to eight weeks to live.

Instead, Mr. Smith visited the IU Simon Cancer Center, where tissue was taken and his genetic sequencing was studied. The results showed his tumor was overexpressing a protein which needed a different treatment. Again, doctors got FDA approval to treat him with a drug normally used for aggressive colon cancer. We were able to use the checkpoint inhibitor in this case, and similarly within six weeks all of his tumors started to disappear, and he's been tumor free for almost two years.

So what does this mean for you and me? Is genetic testing readily available? Dr. Shekhar says right now, It's probably more at research hospitals. If anybody has diagnosis of any type of cancer, they should definitely ask for possible sequencing of their tumor and possible new ways of looking at the diagnosis.

Shekhar says the big challenge for oncologists right now is reading the code results and finding the right treatment. That requires a very high level of sophistication, a very high level of computer-based diagnostics, and that is why you go to a research hospital.

Proud of what their Precision Health Initiative meant for little Emma and Mr. Smith, Dr. Shekhar expects it will become standard practice in the next two to five years for all oncology. But will we ever get that cure for cancer? Well, that's what we're working on. Its a very exciting time to be in medical research. It is almost unbelievable, these are almost incredible, miraculous stories," Shekhar says. . What's the cost. A general test runs between three to five hundred dollars. The testing done for Emma and Mr. Smith would be a 1400 gene panel which could cost about $2 thousand dollars. Dr. Shekhar says a full genome sequencing which IU uses involves 25,000 genes at a cost of nearly $15 thousand. Some insurance companies will pay for the testing and Dr. Shekhar believes with the breakthroughs they are seeing many more will get on board.

They are also using genetic sequencing to try and find new treatments for other diseases like Parkinson's and ALS and as a way to try and prevent chronic diseases like heart disease and high cholesterol.

If you'd like to learn more about IU's Precision Health Initiative, visit grandchallenges.iu.edu/precision-health/index.html

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Cancer: The genetic cure in Indiana - WNDU-TV