Thursday, December 3, 2009

Summary Report

When looking at a person's genome, every human in the world is about 99% genetically similar. We differ in about 1% of our genome by our SNP's, which are single nucleotide polymorphisms. Personalized medicine is devoted to understanding the differences of this 1% difference and treating possible genetic disease risks. Personalized medicine is quickly becoming an innovative and realistic idea. Forbes says: with knowledge of an individuals genetic make-up, doctors will prescribe drugs with far better understanding of their efficacy for that particular individual. Whole gene sequencing is on the threshold of being cheap enough to dominate genotyping technology and commercial implementations are likely to increase. Cheap sequencing will also drive the need for better understanding of what to do with the data. Even if researchers isolate the genetic disorder, they don't necessarily have anything to do with it: yet! Genotyping will create the need for tools to store and analyze huge amounts of data, but currently there is no standard or methodology for its organization. "Genomics may be the next big thing after the internet and biotech. Finding those who can make money early on will likely pay dividends to investors.

Companies are catching on to personalized medicine, and have made genetic testing easier and easier for patients. People can now utilize at-home testing from companies such as 23 and Me, Navigenics, and deCODEme. This direct-to-consumer testing will mail results right to the person's home. However, one must be careful about interpreting the results, and at times different results can be found when using rival companies. People still have to make sure that they see their professional care provider to get their opinion on important issues such as genetic risk of disease. Also, doctors need to become more experienced in the personalized medicine arena so that they can advise their patients about results.

Prior to personalized medicine, drug companies have had a "one-drug-fits-all" mentality. They dont take into account the molecular profiles of each individual, meaning that some patients will experience symptom relief, while others may not, or may experience harmful side effects. A person's body can react to a certain dose differently to another. For example, Prozac is an antidepressant which has shown to affect a small portion of patients in a very harmful way. The book, Side Effects, written by Alison Bass, described how Prozac can produce suicidal thoughts in patients. Hopefully personalized medicine will lower the chances of side effects experienced in patients when exploring their genetic makeup. Pharmacogenomics is drastically going to affect the future development of certain blockbuster drugs that have made billions of dollars for treating certain diseases in molecularly different individuals. Is this going to level the playing field for pharmaceutical companies after we use a more personalized view on drugs instead of a one-drug-fits-all policy?

Personalized Medicine is also becomiong a big target of government spending as well, which can been seen through the large amounts of funding provided by the government. From 1983 until 1993 the budget of NIH (National Institute of Health) grew 158% from $4 billion to $10 billion. Then from 1993 to 2003 the buget increased another 163% to $27 billion. During the Bush administration the budget for NIH stayed at about $27 to $29 billion. But, with Obama talking there has been an even greater emphasis in health research as the recent stimulus plan allocated another $10.4 billion increase in funding to be spent on research before September 2010. The government is recognizing the importance of this new field by passing laws in the common work place such as the GINA Law. The Genetic Informational Nondiscrimination Act acts to protect an employee's career by making it illegal for companies to discriminate based upon genetic histories. Recently, companies have been peering into their employee's histories and making executive decisions such as layoffs after determining if a worker is at risk for a certain disease. The law marks the importance of how personalized medicine is becoming more popular.

Personalized medicine will inevitably be a part of health care very soon. However, we have to be careful not to thrust this idea into the health system too quickly. Genetic profiles have to be developed with precision and accuracy, to ensure the efficacy of personalized medicine.





Monday, November 23, 2009

The Next Big Thing: Personalized Medicine

http://www.forbes.com/2009/05/28/illumina-life-genomics-personal-finance-guru-insight-nih-genes.html

If you were looking to invest in the medical field, what area would you trust your money to? According to Forbes.com, genomics is the next big thing. During the 1980s and 90s, there was a large increase in government funding via programs such as the National Institute of Health (NIH) which helped to make the information that researcher's had discovered commercially usable. In the past 20 years, the NIH's budget has increased to a whopping 27 billion dollars thanks to the government becoming more and more open to the idea that developments in the biotechnology area could become profitable. Under the new Obama administration, the NIH budget will continue to grown allowing for even more expansion in the biotech field.
According to Forbes, the genomics and personalized medicine areas are the most likely to benefit from this funding surge. If a doctor knows his patients particular genetic make up, it will be way easier for doctors to prescribe patients medicine based on a better understanding of the efficacy of that individual.
In the past decade, the cost of genome sequencing has vastly fallen. In 2003 sequencing cost 300 million, but today sequencing cost less than 10,00 dollars. And it is estimated that within the next year the price will fallow below 1000, and soon enough be able to become a part of everyday health care. With genotyping this affordable, it is only a matter of time until personalized medicine becomes a reality.
But even as this information becomes more available to us, making it profitable may prove a harder task than previously thought. Obviously with the expansion of genomics will come a boom in technology and innovation in tools used to do this, but making these machines cost effective is the riddle. Forbes does mention one company in particular who manufactures these type of genoming machines called Illumina. The article states that they expect sales of Illumina's shares to increase by 30 percent by the end of 2009. Not too bad. Even though this is only one manufacturer of these machines one can see how a growing biotech industry has a positive effect on our economy.
At the end of the article Forbes leaves us with one golden piece of advice: "Genomics may be the "next big thing" after the Internet and biotech. Finding those who can make money early on will likely pay dividends to investors." Now if only it were that easy......

Advancing Personalized Medicine In Rheumatoid Arthritis

http://www.medicalnewstoday.com/articles/168627.php

In this article, The University of Alabama at Birmingham are the front runners in trying to create a national database that would identify predictors of effectiveness of certain rheumatoid arthritis treatments. Even though there are treatments available to the public out now, they vary greatly in cost and effectiveness from person to person.
Via a 3.3 million dollar grant, the university will be looking to start up their database soon. The data base, called the Treatment Efficacy and Toxicity in Rheumatoid Arthritis Database (TETRAD) will feature the treatment response data and a stash of DNA and blood cell samples from RA patients that have been treated with various drugs.
One huge positive about the TETRAD is that it will bridge the gap between all major players in the personalized medicine gap for treatment of RA: academic researchers, funding agencies, pharmaceutical industries, biotechnology companies...ect. The ultimate goal of TETRAD according to S. Louis Bridges, the principal investigator for the database, is "to better understand the molecular basis of treatment response and to rapidly accelerate research in RA to allow prediction of which drugs will work best in individual patients." Bridges feels that the next major advancement in the personalization of RA medicine is not to create new drugs, but to increase the efficiency and cost effectiveness of drugs currently available to patient though research and eventually personalization of treatments.

Sunday, November 22, 2009

A Focus on Personal Genomics. http://www.futuremedicine.com/doi/pdf/10.2217/pme.09.63

The completion of the Human Genome has given geneticists an ecyclopedia to study from. People now have the option have direct-to-consumer genomic profiling and interpretations. The article also addresses some ethical and legal issues. For example, there may be certain ethnicity-specific responses to certain drugs. If pharmacogenomics progesses to quickly, there may be legal issues because of these ehtnic concerns. In addition, certain environments may affect different people's response to the drug, and perhaps the drug's toxicity.

With the development of pharmacogenomics, how will we store all the personal data collected from DNA sequencing? Imagine how much more data needs to be stored. Currently, we have folders and medical files for everyone. With the development of personalized medicine, we will have to have massive electrical medical record storing devices for the billions of genetic profiles on record. Furthermore, there will probably be a need for analytical devices to predict the effectiveness of certain drugs based on a specific personal profile.

The article also addresses the fact that not only the average person needs to be educated in the field of pharmacogenomics, but also health care professionals. Publicity in the field of personalized medicine will also start to grow so journalists should know what they're talking about.

The next step for personalized medicine is to enter the early stages of clinical research and diagnostics. This will help to develop treatment strategies for certain people or certain groups of people.

Global Systems Biology, Personalized Medicine, and Molecular Epidimiology

http://www.ncbi.nlm.nih.gov:80/pmc/articles/PMC1682018/

The article starts by stating that "personalized healthcare solutions", the ability to deliver effective therapies that are tailored to the exact biology or biological state of an individual, is one of the 21st century's great medical challenges. Achieving personalized healthcare solutions would involve an effective system of patient evaluation so that proper diagnosis, drug dosage, and intervention can occur. The article also states that the most practical and efficient evaluation would be through some sort of system of patient stratification in which individuals are biologically subclassified and biofeatures modeled in relation to outcome. What makes this idea so important and ground breaking is that not only would it be more efficient in treating patients, but it would also be a lot safer for the patients because doctors would effectively give proper dosages which would lower the number side effects and adverse reactions. The fact that this would lower side effects and would be much safer for the average patient is a continuous theme that seems to popping up through out a lot of the personalized medicine articles. This is such a pertinent subject because medicall efficacy and safety have been a huge topic in the current public health care debate because of harmful medicines like Vioxx that passed through FDA regulations. The article brings up an interesting point about a "top-down " approach where metrics of the systemic homeostatic activity are obtained based on mathematical models of a pre-dose metabolic profiles; this is called Pharmaco-metabonomics. In the article they use this as an alternative or supplemental method to correctly diagnosing patients, but i feel like this system might be flawed. By condensing proper diagnosis to a simple mathematical model I feel like we will not cure the people who are outliers or medical anomalies, which in turn would not answer the main question; how do we make medicine more effective and personalized?

Friday, November 20, 2009

Using at home genetic-testing doesn't mean you can skip a visit to a specialist

A recent article in the website, Cleveland.com, explains how the ease of receiving internet site genetic testing may have its disadvantages along with the stated advantages. The rise of personal genetic testing seemed to have risen from the discovery of the mutated BCRA1 and BCRA2 genes. These mutated genes are the type that cause some breast or ovarian cancers in women. A women with a family history can now receive personal genetic testing right from her home and can get results mailed right to the doorstep. Direct-to-consumer testing has become more and more commonplace in the past few years with such Internet sights as Navigenics, 23 and Me, and deCODEme. The tests for breast cancer can find the a person's genetic risk of getting that particular disease.

There are some problems with direct-to-consumer testing that have been found. First, the explanations given by the companies are very hard to interpret for people. They will then bring the tests to the family doctors for interpretation, but most times the doctors are not yet very experienced in personalized medicine. Another problem stated by the American College of Medical Genetics states that the genetic testing companies need a more invasive regimen of testing. Instead of a "one-shot" test, the companies need to look at the past family generations, or what is called a "third-generation pedigree". This will enable the companies to give more accurate tests. For instance, a woman may not have the BCRA mutation, so she may stop breast cancer check-ups altogether. However, someone in her immediate family or past lineage may have had the gene, giving her an increased risk for breast or ovarian cancer. The big push by the ACMG and the American Medical Association is for people who receive personal genetic testing to keep seeing their regular, professional doctor. Information from one-time testing may not be totally accurate or contain important risk information.

The issue for most people is actually asking themselves if they want to find out if they have an increased risk for certain diseases. The genetic testing know exceeds far past the oncology field. Do you really want to know if you will get Alzheimer's Disease when you are older? If you find an increased chance of breast cancer, is it alright to have a double mastectomy for your own piece of mind? These are questions that will become more apparent with the rise of personalized medicine.

Monday, November 16, 2009

The Rise of Personalized Medicine

http://www.ngpharma.com/news/personalized-medicine/

In a recent study done by professional services firm PricewaterhouseCoopers, it was found the patient response rate to medicine they recived ranged from a low 20 percent to a mediocre 75 percent. Now imagine a world where the medication we recive is tailored to our specific condition using certian genome and molecular data to ensure better a better response to it. Enter personalized medicine.
Personalized medicine is what some in the pharmaceutical industry are calling the future of medicine, and righly so. All people are different, so why would we all take the same medication and expect it to work the same way? Personalized medicine looks to do away with the "one size fits all" approach and design a drug for the specific needs of the patient.
There has been some progress made on the path to making medicine personal. Such websites as 23andme.com offer genetic tests or "geno-typing" services where for a small fee of 300 to 400 dollars a person sends in a saliva sample. With this simple dna test that individual can be tested for a wide rage of different genetic variants. While it is nice to know ahead of time if you are at risk for any kind of disease, this information is only helpful to us if we can use it.
Doctors and Scientists are making progress in cracking the riddle of personal medicine. Simple tests like a blood test or cheek swab could be used to help foreshadow a patients response to certain medicines prior to them even taking them. More positive news also comes in the fact that according to Donald Singer, a professor at the University or Warwick (uk, not rhode island) that within the last year researchers have found more and more genetic markers in more common places. This suggests that the reality of personalized medicine is in the not so distant future. Singer sums up personalized medicine like this:"What we really want is for patients to go to their doctor, get a blood test which could lay out a genetic map, and then prescribe drugs based on the test results."

Sunday, November 15, 2009

Pharmacogenetics/Genomics and Personalized Medicine

http://hmg.oxfordjournals.org/cgi/content/full/14/suppl_2/R207?ref=BenimShopum.com

There have been a number of great advances in drug therapy and development in modern medicine, but a main problem that continually arises is that there are some patients who suffer severe side effects or do not respond favorably to the drug prescribed. Pharmacogenetics is the future of medicine because it allows doctors to diagnose and treat certain diseases with more accuracy and confidence. One important point that this article brings up is the more accurate drug testing will be in the future. With the creation and research of pharmocogenetics, drug testers will be able to more accurately recruit patients for testing. As a result this will lower the percentage of patients with adverse reactions to the drug and doctors will be able to get more accurate results and can make decisions based off of more accurate results. It is well known that efficiency in drugs is one of the most important and prevalent topics in medicine these days and this article further asserts this notion. One thing that I really liked about this article was how they incorporated the evidence of genotyping and targeting personal genes in a case study of Irotecan incorporated into the article. Not only does this show how important that this research is, it shows how quickly we are starting to incorporate and analyze this research. Throughout the article the author states that there are more obstacles that still need to be overcome to help advance this new development, but the article never explicitly states these problems.

Systems Biology, Proteomics, and the Future of Health Care: Toward Predictive, Preventative, and Personalized Medicine

http://pubs.acs.org/doi/full/10.1021/pr0499693?cookieSet=1

Systems Biology as defined in this article is the analysis of the relationships among the elements in a system in response to genetic or environmental perturbations with the goal of understanding the system or the emergent properties of the system.  A system can be protein molecules carrying out a simple task or it can be a complex set of proteins working together to achieve a much more complex task. Therefore these systems include molecules, cells, organs, individuals, and even entire ecosystems.  The emergence of this field brings forth new sets of challenges that we are facing today in the world of healthcare.  Understanding these systems to the fullest will help us in creating a more efficient way to diagnose and treat patients, which is exactly what pharmacogenetics is aimed at.  Medical efficiency has been one of the hottest topics of debate recently. Efficiency can be in a number of different things including the treatment of the patients, the time to diagnose, and the accuracy of diagnosis. This articles main point is that understand systems biology and proteomics is the key to making medicine more predictive and preventative. Proteomics, the large scale study of proteins, has increased significantly within the last five years according to the article. I found this interesting because the article also states that cell behavior cannot be studied simply by looking at genes and mRNAs that encode them, which is why protoeomics was established. This article was enlightening as it taught me a lot more than I knew about the current state of personalized medicine, but I would have liked to see more technical examples about how this research can pinpoint certain diseases because this article mainly focused on the abstract.



FDA Embraces Personalized Medicine

http://www.scienceprogress.org/2009/02/fda-embraces-personalized-medicine/

This Science Progress article discussed the involvement of the FDA within personalized medicine. We have learned that, with such a new topic and an area of science that is growing exponentially, there needs to be some restrictions and regulations on personalized medicine.  The FDA has taken the initiative to create a new position, the Senior Genomics Advisor, whose main focus will be to orientate the FDA to provide scientists and physicians with genetic background information to help create a medicine for patients that will bring individual patient attention and drug dosage. The article states that two main goals need to be met before the US healthcare system can incorporate personalized medicine into everyday use: use of digital medical records and a reformed reimbursement process that rewards positive clinical outcomes.  The FDA has also partnered with Medco, a pharmaceutical benefits manager that could supply the FDA with a plethora of knowledge such as de-indentified patients' tests, dosage, and clinical outcomes.

The FDA's focus on personalized medicine is expected, especially because regulation on genetic testing sites is very spotty (as claimed by The Experimental Man author, David Ewing Duncan) and results seem to vary between different genetic testing sites.  This article doesn't really focus on the regulating power of the FDA on personalized medicine procedure, but actually a push for this type of medicine to be used in the near future.  One tends to wonder if the clinical results will be useful, as there have been problems with ignoring negative clinical outcomes due to a push for pharmaceutical drugs to be placed on the market.  I hope that the information used by the Medco-FDA partnership would be used appropriately, and that precautions would be taken if there are any negatives to how individualized dosage is carried out.  

In the future, I expect more positions to be created by the FDA as personalized medicine becomes more prominent in the US.  For such a fast growing topic, there may be a need for more guidelines and supervision of how records and genetic histories are handled.

Pharmacogenomics: The promise of personalized medicine. http://www.aapsj.org/articles/ps0201/ps020104/ps020104.pdf

With the development of pharmacogenomics, it is being understood that many genes play a role in drug response and toxicity, which may differ in each patient. Therefore, there is a massive complexity in identifying candidate genes.
How will this affect health care professionals? There is obviuously going to be need to implement new educational tools to properly educate our health care professionals with the complexity of personalized medicine.
In the past, the cliche was: "one drug fits all". This is obviously changing with new developments nearly every day. With the one drug fits all, some patients experience symtom relief while others may not, or may experience worsening symptoms, due to the individuality of their molecular profiles. The development of pharmacogenomics will indeed affect the development of blockbuster drugs, or drugs that have made billions of dollars for treating a certain disease or condition for billions of people. But in reality, these drugs will affect everyone differently. For example, look at anti-depressant drugs and the history of suicidal symptoms associated with them. These type of dilemmas should disappear with pharmacogenomics.
The article also addresses the many different receptors and other protein markers that exist with many potential SNP's within each.
What type of privacy issues will be associated with these molecular profiles? Who will have access to them besides our health care professionals and doctors. What about sports and athletic issues? There could be major debate here as well.

http://afsft.tripod.com/sitebuildercontent/sitebuilderfiles/personalizemedicinerevolutionizingdrugdiscovery.pdf

Sometime in the future, probably in the near future, many people will have access to individual molecular profiles, which will lead to the devolpement of personalized medicine. With this and the the continued study of the molecular basis of diseases, the pharmaceutical industry will be changed dramtaically. This article also addresses the fact that trial and error medicine may be approaching the end, because with personalized medicine we will already know what's going to happen and why; we will know what molecular targets we have to target for certain therapies, based on the indivduals molecular profile. How much will it cost to have these molecular profiles? Will health insurance change dramatically? There are many questions that arise with this growing popularity of personailzed medicine.
The article also states that clinical diagnosed diseases will be replaced by genetic markers. Instead of clinical signs and symptoms to diagnose diseases, we will have these molecular profiles. We are on our way to a safer and more effective way of treating diseases. The article also states: Personalized medicine promises to offer the right treatment for the right patient at the right time.

New Law Bans Misuse of Genetic Testing

http://www.nytimes.com/2009/11/16/business/16genes.html

The article, written by Steven Greenhouse and published today in the New York Times, discusses the installment of a new law that focuses on how we view personalized medicine in the United States.  The Genetic Informational Nondiscrimination Act (GINA) will take effect next week in American workplaces.  This law prohibits discrimination based on a employee's genetic background.  This is important for an employee's job security now that a company can't fire, hire, or promote an individual based on his or her genetic history.  This new law also prohibits insurance companies from using genetic backgrounds to deny coverage, set premiums, or deductibles.  The background checks also include the employee's immediate and extended family, as most diseases tend to stay within a family's lineage.  Companies usually give benefits to those who include information on family medical histories through such means as paid time off, or lower premiums.  This will not be allowed after the GINA law takes effect.  the new law was passed last year by Congress in response to 63% Americans saying that they would not take genetic tests if their company could view the results.  The law was passed also due to the fact that some companies such as the Burlington Northern and Santa Fe Railway Company conducted genetic testing without the knowledge of its employees.

Personalized medicine seems to be taking off recently, and the GINA law shows the impact of this interesting topic.  There definitely needs to be some regulation of genetic testing that occurs presently in the world.  Genetic testing is used to help determine if an individual is at risk for a future medical problem or inherited disease.  People are using this technology more and more in order to view personal risks such as getting breast cancer, Alzheimer's disease, heart attack, and a whole lot more.  The GINA law was passed due to the pressing issue of companies responding to personalized medicine and using the new technology to determine if a person is in risk of a disease.  It is not surprising that they would be interested in their employees' testings.  Why would they want to promote an employee for a position that places them in an important position if the person is at risk for a disease which could hinder the company's future?

There are definitely going to be some confusion with the discrimination instances in the future.  As the article suggests, there could potentially be a blurry line between firing a person due to lack of effort and firing a person because he or she has a "bad" genetic marker.  Companies have to worry about the employees using their genetic histories as a discriminatory tool if they are fired for a completely different reason.  Companies still have the right to view obituaries to gain inherited disease information.