Understanding Predictive Analytics

Predictive analytics is the use of data, statistical algorithms and machine learning techniques to identify the likelihood of future outcomes based on historical data. One of its major uses is in healthcare. It predicts the effectiveness of new producers, medical tests, and medications and improves services or outcomes by providing safe and effective patient care. It also helps in detecting and handling insurance claim frauds, identifying which patients are at most risk of having a chronic disease and know which interventions make the most medical and financial sense. Some examples of the above applications can be the executives of Taipei Medical University that analyse and monitor performance across all hospitals in its system or Express Scripts, one of the largest pharmacy benefits companies in the US which uses analytics to identify the patients not adhering to their prescribed treatment, resulting in a savings of $1500 to $9000 per patient.

We distinctly remember the moment that scientists claimed victory against all nature of future disease after the human genome had successfully been decoded. However, over the ensuing decade-plus, it has become clear that our health is not quite that deterministic. Clinicians must weigh not just a string of nucleotides when making decisions about our care but must also incorporate a growing set of health data that is generated and controlled by patients. Incorporating this data into health care to enable better decisions is at the heart of this report. The benefits of using predictive analytics are the same as many categories of digital health: better care and lower costs. The difference is that the path to realizing these benefits—through personalized care—is only possible by implementing these technologies. The concern that care will be reduced to a set of algorithmically-derived probabilities is important and real. But the promise is as well.

Vinnie Ramesh, chief technology officer and the Co-founder of Wellframe said, “Predictive analytics is not reinventing the wheel. It’s applying what doctors have been doing on a larger scale. What’s changed is our ability to better measure, aggregate, and make sense of previously hard-to-obtain or non-existent behavioral, psychosocial, and biometric data.Combining these new datasets with the existing sciences of epidemiology and clinical medicine allows us to accelerate progress in understanding the relationships between external factors and human biology—ultimately resulting in the enhanced re-engineering of clinical pathways and truly personalized care.”

Investors certainly believe in the promise, pouring $1.9 Billion into companies that purport to use predictive analytics. The most active investors being Khosla Ventures, Merck Global Health Innovation fund, Norwest Venture Partners, Sequoia Capital and Social + Capital Partnership. Funded companies claiming to use predictive analytics are highly focused on providers, practically ignoring patients.

The keystone of any successful predictive analytics model is the ability to improve the prediction based on a feedback loop.Within seconds, Google knows whether its search engine prediction is correct. But in health care, the feedback loop—which is often measured in terms of impact on biometric or cost outcomes—can take years.

Startup companies are attacking the key challenges in predictive analytics, advancing the space and making a difference.

The challenges that this method faces is the ability of accessing meaningful, historical data sets and normalize for inherent biases and validity concerns; Integrating with current clinical workflow to collect real-time, point of care patient data; Learning to manage and process new and existing forms of unstructured soiled data and in addressing HIPAA and privacy related concerns to guarantee patient anonymity.

“We are underestimating the potential impact of predictive analytics in process tools to help physicians make better decisions.Every week, at the airport, I get on an airplane, and I don’t worry about flying at all. There are so many tools deployed to assist the pilot. I was talking with a pilot about the new 787–and the pilot said he basically monitors the plane. We’re going to see more of that in health care.Physicians will be monitoring algorithms”, saidKevin Fickenscher, President AMC Health and Former President, AMIA.

References-

https://en.wikipedia.org/wiki/Predictive_analytics

http://www.sas.com/en_us/insights/analytics/predictive-analytics.html

http://www.webopedia.com/TERM/P/predictive_analytics.html

http://www.predictiveanalyticsworld.com/predictive_analytics.php

The Future of Personalized Healthcare: Predictive Analytics

 

Technology and Personalized Medicine

We do know by now that personalized medicine is the new “in” thing making waves in the world of Medical Biotechnology. Millions of people have been touched by the era of personalized medicine, but the field is still in its infancy.

Scientists are hard at work to learn more about how genes affect our health and how treatments and prevention strategies for various diseases could be customized for each individual based on the information these genes provide. As technological innovation continues to advance, we have discovered new ways to diagnose and monitor the condition of patients.

Today’s new technologies allow doctors to gather increasingly detailed information about the progression and treatment of disease and even offer personalized treatment based on a patient’s genes.

Personalized medicine is often defined as “the right treatment for the right person at the right time.” While already being considered in drug development strategies, it is still at an early stage with respect to clinical applications that support patient-specific therapy. As the push towards personalization and precision medicine continues to build, genetic testing will play a greater role in day-to-day interactions between physicians and patients.

To achieve this goal of propagating precision medicine, we need to overcome current limitations like clinical use, cost, and understanding of the value of genotyping.  Scientific and technological advancements in human genetics will pave the way for this personal knowledge and consequential lifestyle changes to happen for the broader population.

Some of the changes brought about by technology that can be envisioned for the near future are-

  • Researchers Nigam Shaw and Russ Altman have been able to use data mining to identify the potential rare side effects of specific treatments and divide the population into those at risk of experiencing those side effects and those safe from said side effects. By understanding how a person will react to a particular therapy, researchers will be able to develop better targeted and effective treatment options and physicians will be able to prescribe those treatments more accurately. 
  •  Obtaining sequencing data has gotten faster and less expensive, but hold-ups exist not just in regulatory processes but also in correlating the DNA sequence with clinical outcomes.  Major companies involved in sequencing technologies are offering data analysis and data storage cloud services in addition to just the instrumentation. New technologies to break this glass ceiling in analysis and to drive clinical utility of additional genes will be crucial in overcoming this problem.
  •  Personalized medicine would require devices and sensors for physicians to monitor the conditions of their patients and modify the treatment as needed. Today’s sensors have managed to be functional at a considerably small size but advances in nanotechnology could shrink sensors enough to make them suitable for implantation in the body. Imagine a day in which levels of specific compounds in blood could be measured effortlessly; biomarkers of response to the prescribed treatments could be continuously monitored via minuscule sensors which would alert physicians if specified border levels were reached.
  •  3D printing in the field of medicine! While initially 3-D tissue prints will be used as models for drug action and safety, many believe that in 10-15 years it may enable tissue and organ (re-)construction from cells harvested from the patient, thus providing custom and personalized organs on demand with no issues of compatibility.
  • It would be ideal if doctors could just tap into a single, large database filled with anonymous genetic information — biomarkers tied to patient statistics tied to specific drugs and treatments — to help them make more informed, accurate decisions about each individual’s medical path. Getting there is going to be a long and bumpy ride, with plenty of wrong turns and backtracking along the way.

The progress in technology over the last few decades has been phenomenal. Its applications in various fields have been multiple dreams come true. It would not then, be too outrageous to believe that the predictable future of healthcare- personalized medicine, would arrive soon assisted by rapidly developing technology.

References-

http://www.dddmag.com/articles/2015/09/how-technology-transforming-personalized-medicine

https://www.nih.gov/about-nih/what-we-do/nih-turning-discovery-into-health/personalized-medicine-new-technologies

http://www.bio-itworld.com/2013/10/18/5-ways-technology-is-changing-personalized-medicine.html

http://www.omicsonline.org/emerging-new-technology-to-advance-personalized-medicine-2153-0645.1000e113.php?aid=3986

What Is Personalized Medicine?

 

Genomics and Personalized Medicine

 

GENOMICS AND PERSONALISED MEDICINES:

As each individual has a unique genome, genetic disorders are also unique for a particular patient in most of the cases. It is possible to identify the regions of mutation if the sequence of a patient’s DNA is known. These mutations can then be corrected by gene therapy. The gene therapy provided will obviously be unique to each patient. Hence, these are known as personalised medicines.

In personalised medication, apart from a medicine’s effect on a disease, medication is also given on the basis of their interaction with the patient’s genome.

 

HOW DID PERSONALISED MEDICINE GAIN MOMENTUM?

In 1902, Sir Archibald Garrod made the first connection between genetic inheritance and susceptibility to a disease (called alkaptonuria). About half a century later, in 1956, the first discovery of a genetic basis for selective toxicity was made (for the antimalarial drug primaquine). In 1977, the discovery of cytochrome P450 metabolic enzymes and their role in chemically altering drugs so they can be eliminated from the bloodstream led to the realization that variation in these enzymes can have a significant influence on the effective dose of a drug. Yet, the real drive towards personalized medicine began in 2003 with the complete sequencing of the human genome. We are now moving beyond the genome into the entire spectrum of molecular medicine, including the proteome, metabolome, and epigenome.

 

IDENTIFYING AND TREATING CANCERS

 

Genomic information has “opened our eyes” to the diverse characteristics of cancers and helped inform advances in drug development.

 

Cancer in two different individuals is not always same, there may be some part of the sequence of specific cancer in a particular patient that makes it different from the cancer of another patient. This explains why chemotherapy isn’t successful for all cancer patients. – “More and more in what we’ve learned is that tumours have certain mutations in common that make them more responsive or non-responsive to chemotherapy.”

Advances in genomic and genetic screening can also help identify the presence of cancer, particularly cancer recurrences, earlier and with less invasive methods. And help medical practitioners assess a specific individual’s health risks.

 

CHECKING THE RECURRENCE OF CANCER:

Often, the only way of  diagnosing the recursion of cancer is through X-ray or an MRI. Or undergo unpleasant procedures like cystoscopy. But with advancements in the field of genomics, now, there are tools where, for instance, you look at the cancer cells in the urine, The urine test, which measures three distinct DNA methylation markers, detected tumor recurrence with both high sensitivity and specificity (80% sensitivity and 97% specificity) in NMIBC patients.

Health care systems, more and more, are setting up sequencing facilities, or turning to independently owned facilities, to conduct this type of work.

 

ADVANTAGES OF PERSONALISED MEDICATION:

Personalised treatment has turned out to be a great boon as it:

  • Shifts the emphasis in medicine from reaction to prevention
  • Directs the selection of optimal therapy and reduce trial-and-error prescriptions 
  • Helps avoid adverse drug reactions
  • Increases patient adherence to treatment
  • Improves quality of life
  • Reveals additional or alternative uses for medicines and drug candidates.

 

DEVELOPING AN ETHICAL AND LEGAL FRAMEWORK FOR GENOMICS

 

As this work continues to jump from academic research labs into the mainstream, certain ethical, legal, and policy implications arise. We do have a number of policies around the globe for the same reason.

 

If it is known that someone is genetically predisposed to a certain disease, it could lead to employment and insurance discrimination. To avoid this situation, United States has the Genetic Information Nondiscrimination Act that aims to protect people against such a discrimination.

 

And there are many other propositions like:

 

  1. There are challenges we have to be aware of in terms of what information we want to know about our genome and what kind of information is not ready for us to learn about – for instance when there is nothing to do for someone who has a predisposition to a devastating disease.
  2. Also, policies should be established surrounding who has the right to make decisions based on our human genome.
  3. Issues such as privacy, informed consent, and intellectual property all come into play as genomic research and technology move forward.
  4. Accessibility is another techno-economical issue. There’s still a long way and a lot of work to do in bringing technologies to a lower cost, so they are accessible to everyone.

References-

https://www.gov.uk/government/uploads/system/uploads/attachment_data/file/503689/Healthcare_UK_Genomics__Personalised_Medicine__DIGITAL.pdf

http://www.futuremedicine.com/doi/abs/10.2217/pme.11.86

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3641662/

https://ecpe.sph.harvard.edu/newsstory.cfm?story=Real-World-Genomics

http://www.personalizedmedicinecoalition.org/Userfiles/PMC-Corporate/file/pmc_the_case_for_personalized_medicine.pdf

Economics Of Personalized Medicine

These days, you will read various articles going round and round about how personalized medicine could possibly prove to be a boon for medical sciences in terms of diagnosis and treatment. While on the other hand you will find many expressing their disappointment about how it hasn’t lived up to its promise pop up.

But a more interesting question is why exactly is personalized medicine such a big challenge?

The reasons might seem obvious — genes are really very complex and it’s hard to get enough people to study any particular target. A disease in which personalized therapy has been touted, probably results from a combination of many genetic mutations and it very difficult to deduce which one to blame.

Once we get to know the mechanics of personalized medicine, various questions tend to arise in our minds, like – will it work for us? If yes, then how? But the most important of them all is whether it really is worth our time and money?

First, let us throw some light on some of the many reasons why personalized medicine seems so tricky;

  • It is very hard to know which mutations are actually causing the disease and which are passive abnormalities that just happen to be present with no connection to the disease at all. For example, most patients with advanced cancer have p53 mutations. Right now, there is no drug that targets p53, and there’s no saying that taking aim at p53 will be useful.
  • Responses to the targeted therapy are often short-lived and it’s not easy to move these into meaningful extensions for healthy survival.
  • When you target one abnormality or pathway, cells might develop another means of growth, a process also known as treatment resistance.
  • Gene sequencing costs about $1,000 per patient, but handling and storage could increase the cost up to $10,000.

 

Now having stated the above issues, one cannot simply ignore the need to find better ways for patients to take care of themselves and better ways for physicians to help them do this. Today, most of the doctors continue to practice traditional trial-and-error medicine. In contrast, personalized medicine uses much more refined diagnostic testing to identify the exact cause of disease. Then, to select the best treatment and determine the right dosage, doctors who use the personalized medicine approach take into account the patient’s unique physiology, if applicable, of the tumor, virus, or bacteria; and the patient’s ability to metabolize particular drugs.

What really is hindering the transition from trial-and-error medicine to personalized are the following issues-

  • The pharmaceutical industries follow their blockbuster model, which focuses on developing and marketing drugs for as broad a patient population as possible and it discourages the development of therapies that aim at smaller subpopulations and the diagnostic tests that can identify them.
  • A regulatory environment that causes too many resources to be dedicated to phase-three clinical trials and too few to monitoring and assessment after the U.S. Food and Drug Administration has approved a drug.
  • The dysfunctional payment system, which pays physicians for completing procedures and prescribing drugs rather than for early diagnosis and prevention.
  • Physician behavior that is deeply rooted in trial-and-error medicine.

 

We need to consider and implement some straight forward and some complex solutions to overcome the aforementioned barriers, in a prudent manner.

Transforming pharmaceutical giants:

Big pharmaceutical companies can take three steps to speed the introduction of personalized medicine,

  • Abandon the blockbuster business model,
  • Forge alliances with diagnostic companies, and
  • Step up efforts to communicate the safety and efficacy advantages of targeted therapies.

 In long terms, the targeted drug business model would increase sales and profits for several reasons:

  • Once a highly effective therapy for a disease is available, more of the affected patients visit their physicians, who will then be aware of and willing to provide the treatment.
  • If a pharmaceutical company can demonstrate that its drug lowers the overall cost of treating a subpopulation with a disease, private and government insurers will be willing to pay for the diagnostic test and to pay a higher price for the drug treatment.
  • Since clinical trials now consume more than half the money spent on drug development, focusing clinical trials on targeted subpopulations would decrease their size, duration, and cost.

Given the trends, large pharmaceutical companies have little choice but to change. Those that stick with the blockbuster model face a frustrating future of declining sales and profits.

Role of FDA:

  • The FDA should motivate pharmaceutical companies to develop diagnostics and targeted drugs together.
  • The agency needs to implement practical regulations that continue to encourage industry innovation but maintain high standards of quality. 

Paying for benefit:

The cost of diagnostic tests might be high initially, but that pales in comparison with the potential benefits that tag along with personalized medical care.

When you have an expensive drug, rather than giving it to everybody, the act of individualizing that therapy will actually reduce the overall cost. If we increase the cost but have better outcomes, people are more likely to accept the change.

Changing physicians’ habits:

To get physicians accustomed to personalized medicine, medical schools must focus on genomics, diagnostic testing, and targeted therapies. This change alone will play a critical role in moving personalized medicine into mainstream practice.

The slow progress of personalized medicine in the past years could be discouraging, but it’s not very surprising given how complex of the health care system actually is. Given the higher stakes involved in personalized medicine—people’s lives and the viability of health care systems—it would be unreasonable to expect the widespread adoption of personalized medicine to happen swiftly.

References-

http://theincidentaleconomist.com/wordpress/personalized-medicine-will-it-bend-the-cost-curve-down-or-up/

http://www.researchandmarkets.com/reports/39077/personalized_medicine_scientific_and_commercial

http://www.wired.com/2013/02/personalized-medicine/

http://www.forbes.com/forbes/welcome/

The Many Reasons Why Personalized Medicine Is So Tricky

http://www.cnbc.com/2015/12/04/personalized-medicine-better-results-but-at-what-cost.html

https://hbr.org/2007/10/realizing-the-promise-of-personalized-medicine

Understanding Personalized Medicine: Drug Development and Usage

Every day, millions of people are taking medications that will not help them. The drugs currently being prescribed are optimally beneficial to as few as 4% of the population consuming them. The realization that physicians need to take individual variability into account is driving huge interest in ‘precision’ medicine or Personalized medicine. In this time of technological advancements and unprecedented scientific breakthroughs, personalized health care has the ability to look at a patient on an individual basis so as to detect the onset of disease at its earliest stages, and at the same time increase the efficiency of the health care system by improving quality, accessibility, and affordability.

Every person has a unique genome and personalized medicine relies on technologies that confirm a patient’s biology at the molecular level with DNARNA, or protein, which ultimately leads to the diagnosis of the disease. Having an individual’s genomic information can be significantly useful for developing drugs. These days, it’s common for physicians to use a trial and error strategy until they find the treatment that is most effective for their patient, whereas with personalized medicine, we can:

  • Specifically, formulate a treatment for an individual and have insight into how their body will respond to the drug.
  • Use detailed information of the person  genotype to decide the treatment prescriptions, which will be more cost-effective and accurate.
  • Shift the emphasis in medicine from reaction to prevention.
  • Direct the selection of optimal therapy and reduce trial-and-error prescribing.
  • Help avoid adverse drug reactions.
  • Improve the quality of life.
  • Reveal additional or alternative uses for medicines and drug candidates.
  • The decrease in the overall cost of health care due to small and fast trials.

Studies that focus on a single person are known as N-of-1 trials, where enough genomic data of an individual is collected. This data provides the blueprint for the production of various proteins in the body that may have an important role in drug development for one of the several reasons, including the following:

  • The protein plays a role in breaking down the drug.
  • It helps with the absorption or transportation of the drug.
  • The protein that is the actual target of the drug.
  • It has some role in a series of molecular events triggered by the drug.

 

When researchers compare the genomes of individuals taking the same drug, they may discover that a set of people who share a certain genetic variation also share a common treatment response, such as:

  • A greater risk of side effects
  • Severe side effects at relatively low doses
  • The need for a higher dose to achieve a therapeutic effect
  • No benefit from the treatment
  • A greater or more likely benefit from the treatment
  • The optimal duration of treatment

In N-of-1 trials, the appropriate crossover designs, in which different interventions are administered to the same person alternately (possibly with ‘wash-out’ periods in between to allow the drugs’ effects to wear off) would also enable experimenters to compare the effect of different drugs in the same person.

Well-designed N-of-1 trials could be useful in the early stages of clinical drug development and for studies investigating the safety and appropriate dosages of drugs. Currently, phase I and II clinical trials usually involve giving different amounts of an FDA-approved drug to a small group of healthy volunteers.

FDA’s (U.S. Food and Drug Administration) role is to ensure the accuracy of genetic tests, many of which are acquired from the next generation sequencing (NGS), that poses novel regulatory issues for FDA. Recognizing these challenges, FDA is working out an optimum regulatory platform, by issuing discussion papers and holding workshops that will encourage innovation while ensuring accuracy. In addition, FDA has created precisionFDA, a community research and development portal that allows testing, piloting, and validating existing and new bioinformatics approaches to NGS process.

There are still various barriers to bringing N-of-1 trials mainstream, such as:

  • Regulatory agencies, researchers, and physicians are wary of moving away from classical clinical trials.
  • Pharmaceutical companies tend to focus on drugs that are likely to be used by thousands or millions of people.
  • Tailoring treatments to patients is costly as there is a lot of work to be done on biomarkers, monitoring devices, study designs and data analysis methods.

The fact remains still that these well-designed trials could save the millions of dollars that are spent on inappropriate interventions, the management and treatment of persistent or recurring diseases, and on conventional phase III trials. And the best part is that the researchers, as well as doctors, are interested in exposing people’s unique characteristics at the molecular level to deduce better alternatives to the already existing treatment procedures.  Also, cheap and efficient devices that collect health data are becoming available along with the increasing support of the governments and life-sciences funding bodies worldwide. All we require is a team effort by innovators, entrepreneurs, regulators, payers, and policymakers to overcome the barriers and move personalized medicine forward.

References-

http://www.personalizedmedicinecoalition.org/Userfiles/PMC-Corporate/file/pmc_the_case_for_personalized_medicine.pdf

 

https://en.wikipedia.org/wiki/Personalized_medicine

 

http://www.fda.gov/ScienceResearch/SpecialTopics/PrecisionMedicine/default.htm

 

http://www.mayoclinic.org/healthy-lifestyle/consumer-health/in-depth/personalized-medicine/art-20044300

 

http://www.nature.com/news/personalized-medicine-time-for-one-person-trials-1.17411

 

Personalized vs. Mainstream Medicine.

Have you ever noticed how different people react differently to any drug?

How a person A may be fit as a fiddle upon popping a single pill but person B goes through the whole bottle and still be the same? What about person C, who might just be allergic and for whom the pill would do more bad than good? On average, any given prescription drug on the market nowadays only works for half of those who take it.

The underlying concept behind this different responsiveness to drugs is a combination of each person’s genetic make-up and the influence of environmental factors.

Conventional healthcare is based on the evidence-based practice of diagnosing and treating diseases. The drugs and treatments thus devised are tested on broad populations and prescribed using statistical averages. While these may work perfectly on some, others aren’t that lucky and for some, they may even prove fatal. In fact, there have been more than a million deaths due to ‘adverse drug reactions’ in the last 10 years!

Advancements in technology and drug discovery have led to the inception of a previously-deemed-science-fiction concept- Customized Health Care using personalized medicine. Yes, you read that right, customized treatment plans designed for every individual. Though still far from being commonly practiced, the roots of this new practice have begun to take hold.

Personalized medicine uses predictive tools to evaluate health risks and to design personalized health plans to help patients mitigate risks, prevent disease and to treat it with precision when it occurs. Techniques such as genome sequencing can reveal mutations in DNA that influence diseases ranging from cystic fibrosis to cancer.  This emerging science has the potential to truly customize healthcare to the patient, enabling providers to match drugs to patients based on their genetic profiles, to identify which health conditions an individual is susceptible to, and to determine how a given patient will respond to a particular therapy.

Although there have been quite a few encouraging signs of change, not many health systems apart from a few pioneers have yet embraced this practice. This concept seems like a boon for all those who are included in the minority percentage of people dealing with adverse effects of traditional medicine.

To see how it compares to our trusty old mainstream medicine, let’s take a look at the pros and cons of each:

Mainstream Medicine

Pros-

  •  Pharmaceutical Medicines go through strict trials to become licensed. It takes years of research and bundles of paperwork AND laboratory testing sessions to finally launch a new drug, did you know?
  • The physicians prescribing these medicines are highly skilled, trained professionals. Might as well trust that they know what they’re doing!
  • Both the Medical Profession and the Pharmaceutical Industry have very strict guidelines to abide by.  Any doctor not adhering to these guidelines is struck off and unable to practice again.  Pharmaceutical Companies are subject to massive fines if found to be in breach.
  • Doctors have access to highly accurate diagnostic equipment nowadays and they are trained to recognize and diagnose disease. Medicine is not a stagnant science, you know! We’ve come a long way from the days of Hippocrates.

Cons-

  • One of the most obvious problems- side effects. Some patients get stuck in a cycle of taking more Drugs to deal with the unwanted effects of the drugs they were originally prescribed.
  • Mainstream medicine focuses on dealing with the symptoms of the disease. Rather than curing the problem, most of the time it just suppresses it. This can lead to a lifetime need for drug therapy.
  • You ever notice how Doctors earn well? Yes, medical treatment is expensive, and without access to health insurance, can be out of the reach of many.  Even in countries where there is free access to health care, certain drugs or treatments may not be available, due to the local health care services being unable to pay for them.
  • Being different poses a problem. Dosing and regimen are standardized, which is ok for the majority of patients, but not for those who fall outside the norm. The treatment doesn’t work as well for them or they then have tolerability problems.

Personalized Medicine

Pros-

  • It can be used to predict a person’s risk for a particular disease, based on the analysis of their genome. The physician can thus initiate preventative treatment before the disease even presents itself in the patient. For example, if it is found that a DNA mutation increases a person’s risk of developing Type 2 Diabetes, the person can begin lifestyle changes that will lessen their chances of developing the disease later in life.
  • The detailed account of genetic ‘intel’ from the individual will help prevent adverse reactions or unfortunate events, allow for appropriate dosages, and create maximum efficacy with drug prescriptions.
  • Having information about an individual’s genetic makeup can be a major asset in deciding if a patient can be chosen for inclusion or exclusion in the final stages of a clinical trial. Such selective testing will prevent any adverse outcomes in patients. Not only will this allow for smaller and faster trials, it will lead to lower costs- a win-win situation!

Cons-

  • The validity of genomic tests, given the complexity of gene expression, would be surrounded by uncertainty, no matter how advanced the technology used, which is a major concern. No test is 100% accurate!
  • There is no guarantee against possible mishandling of private genomic information by providers and discrimination based on genomic information (by, for example, insurance companies, private companies, and the healthcare system).
  • Genetic tests can only provide limited information about a condition; they cannot determine if or when a person will show symptoms of a disease, how severe the symptoms will be, or whether the disorder will progress over time.

Both mainstream and personalized medicines have their own positive and negative aspects. Instead of being narrow-minded and choosing one over the other, it would be wiser to explore all the options available to you, the more choices you have the better, right? Since none is without its own flaws, it rests with the patient to decide which course they want to give a try. And why choose one? Just take what each offers and try to integrate them together! It’s not much of a risk, it would definitely be worth it…. but do consult with your physician first, don’t just take our word for it!

References-

http://alternativemedicineanswers.com/articles/Oct_Dec_08/WesternVsAlternativeMedicine.html

The Pros and Cons of Modern Medicine

 

http://www.pwc.com/us/en/view/issue-13/what-it-means-for-patient-centered-healthcare-and-how-to-address-its-current-challenges.html

https://en.wikipedia.org/wiki/Personalized_medicine

 

https://www.jax.org/genetics-and-healthcare/personalized-medicine/benefits-of-personalized-medicine

 

http://medical-dictionary.thefreedictionary.com/mainstream+medicine

http://www.acpm.org/?GeneticTestgClinRef#Limitations

https://www.personalizedmedicinebulletin.com/2013/10/07/clinical-adoption-of-personalized-medicine/

Gene Therapy: The Future Of Personalised Healthcare

                                                     Understanding Gene Therapy: Proteins And Their Roles

Proteins are responsible for a multitude of cellular functions that are crucial to the survival of cells and the organs they populate. They are produced by a process called translation. It is built based on the blueprint, or code, that outlines its structure. This code is found in the genes, also known as DNA. Therefore, defective genes cause malfunctions in metabolic pathways, hence diseases. When either too much or too little of a certain protein is produced or even when a defect in the production process occurs, it leads to a protein being formed incorrectly. And hence, these malfunctions lead to various genetic diseases.

If the precise code for making the protein is known, doctors can synthesize it in a test tube and then deliver it into the patient’s cells. Various advancements in the fields of Gene Therapy have led to successful treatment of many genetic disorders.

 

What Is Gene Therapy? 

 

Merriam-Webster’s Collegiate Dictionary defines gene therapy as the insertion of normal or genetically altered genes into cells usually to replace defective genes especially in the treatment of genetic disorders. By using gene therapy, we can go to the base of the disorder instead of use conventional medicines only to alleviate the symptoms.

 

Technical Aspects

 

There are three methods used to deliver the genetically altered material.

  1. Retroviruses or Retrotransposons: Retroviruses are viruses that can transfer their own genetic information and also genetically alter the patient’s genome. These viruses are unable to copy themselves but still pose a problem in altering protein synthesis when these retroviruses splice a patient’s cells. This is when retrotransposons come into play. There are parts of DNA from a cell that can copy themselves onto other sites in cell’s genome. The only type of such a transposon is a yeast transposon, called Ty3. This yeast transposon is still under research.
  2. Helium gun: This technique involves bombarding target cells with gold molecules coated with genetically altered genes. This is done with the help of a pressurized gun that is filled with helium.
  3. Liposomes: Liposomes are hollow, fat molecules present in the form of a solution. This method is being researched by the Royal Brompton Hospital in London headed by Natasha Caplen (Glauisisus.1996). She is using liposomes in experimentation with cystic fibrosis. Cystic fibrosis is a disease that is caused by a chloride ion build up in the respiratory tract which causes difficulty in breathing. By inhaling liposomes coated with genetically altered genes prevented the buildup of chloride ion and they recorded a significant decrease in chloride ion levels. Unlike retroviruses, this method does not pose any harmful side effects.

 

Gene Therapy As Future Of Personalised Healthcare

 

The first disease that was approved for gene therapy was adenosine deaminase deficiency or ADA. Children who have this deadly disease are seriously prone to most of the minor illnesses. If untreated, it becomes the reason for death too.

The same procedure is under development and under research for AIDS.

Another major issue that attracts gene therapy’s attention is cancer. An experiment was done at the University of California in LA led by Habib Fakhrai, which involved studies on rats with tumors. They had sixteen rats of which eleven of them were treated with 9L gliosarcoma, the genetically altered gene. This treatment blocked the synthesis of a protein called TGF – beta. A molecule responsible for decreasing the immune action. After all was said and done the eleven rats that received the treatment were alive while the others died of cancer.

There are many other diseases that may be cured by gene therapy some of which include Rubinstein-taybi syndrome, partial epilepsy, cataract, prostate cancer , male infertility, Alzheimer’s, schizophrenia, usher syndrome, and maternal acute fatty liver of pregnancy. Genes of these diseases have been identified since 1995.

 

Pros:

 

  1. Untapped Potential

One notable factor that gives gene therapy the edge is the remarkable therapeutic potential it has.

 

  1. Replacement of Defective Cells

We are constantly attacked by newer, more dangerous and vituperative types of germs and pathogens. Although many of such diseases can be treated or cured medically, there is no cure for genetic disorders unless defective cells are replaced by proper ones which is what gene therapy does.

 

  1. End of hereditary diseases

With gene therapy, the cells carrying the genetic disorders are altered. So fixing them before they could be passed on could end the line of family members getting the same illness that debilitated their relatives.

 

  1. Little Risk of Mutation

Unlike many other types of cellular treatments, gene therapy has a very low risk of the genes that are used mutating. This is because they are not necessarily “new” genes, but simply duplicate of genes that we already have within our body.

 

  1. Imagination comes true:

Gene therapy makes it possible for one to produce a cell, tissue, an organ, of even an organism of their choice.

 

Cons:

 

  1. A  Potential threat due to weaponization:

Genes are the mastermind of our functioning, if altered with bad intentions and modifying organisms to build a greater power, they can pose a serious threat to the society.

 

  1. Damage In The Gene Pool:

If gene therapy was performed to a certain degree, it possibly could permanently change the human gene pool.

 

  1. Expensive:

This treatment therapy may possibly be for the rich only, and without the further advancement in technology, could make the rich richer and poor poorer.

 

  1. Rise in Disorders: 

There’s an exact point in the host genome where the right genes should be brought in and there are no assurance that the viral enzyme responsible for this step will be able to bring in the right genes at the exact point in the host genome. If there’s an error in the process, the results could bring about severe disorders. In addition, the body may destroy the vector perceiving that it is a foreign body.

 

References-

List of Pros and Cons of Gene Therapy

https://www.ndsu.edu/pubweb/~mcclean/plsc431/students/eric.htm

 

http://greengarageblog.org/4-chief-pros-and-cons-of-gene-therapy

 

http://nlcatp.org/4-key-pros-and-cons-of-gene-therapy/

 

http://study.com/academy/lesson/what-is-gene-therapy-definition-history-pros-cons-examples.html

 

http://genmed.yolasite.com/personalized-medicine.php

8 Common Gene-Linked Disorders

According to Elizabeth Corwin, Ph.D., author of “Handbook of Pathophysiology” there are around 4,500 diseases due to single gene disorder alone. Single gene disorders are diseases which are a result of a mistake made in one gene. In addition to the single gene disorder, there are the genetically transmitted diseases which are a result of mistakes caused by several genes. A genetically transmitted disease is caused by some genetic disorder like abnormalities in the genome or some congenital condition. They are usually rare and affect one person in several thousands or million.

Here are some “common” genetically transmitted diseases:

  1. Cystic Fibrosis:

Cystic fibrosis (Located on human chromosome 7, the CFTR gene), or CF, is an inherited disease of the secretory glands. Secretory glands include glands that make mucus and sweat. CF mainly affects the lungs, pancreas, liver, intestines, sinuses and sex organs. A defect in the CFTR gene causes this disease. This gene makes a protein that controls osmosis in the cells. In people who have cystic fibrosis, this gene makes a defective protein that doesn’t work well. This causes thick sticky mucus and very salty sweat. Unfortunately, this disease has no cure though with some medicines and respiratory treatments the patient’s lifespan can be increased.

  1. Huntington’s disease:

Huntington’s Disease (Caused by the mutation of HTT  gene located on the chromosome 4) causes the degeneration of the nerve cells in the brain and central nervous system.  This hereditary condition is the autosomal dominant disorder, meaning that children have a 50-percent chance of developing it and passing it along to their own children if one of their own parents has it. Treatment aims to limit the course of the disease. HD typically shows itself when the individual is between 30 and 40-years old—however, rare forms begin in childhood. Symptoms of HD include uncontrolled movement (chorea), difficulty in swallowing, behavioral changes, difficulty in balancing and walking, memory, speech, and cognitive loss.

  1.  Down Syndrome:

Down Syndrome, a common chromosomal abnormality where the most common form of Down’s syndrome is known as Trisomy 21, a condition where individuals have 47 chromosomes in each cell instead of 46 that affects approximately 1 in 1000 newborns (particularly in older expectant mothers), results when an extra copy of genes occurs on chromosome 21. Although Downs can be detected by prenatal testing,  babies affected typically show the following features at birth—decreased muscle tone in the face, developmental delays, and heart and digestive system defects.

  1. Duchenne Muscular Dystrophy:

Inherited in an X-linked recessive pattern. Males have only one copy of X-chromosome from their mother and one copy of the Y chromosome from their father. If their X chromosome has a DMD gene mutation, symptoms of Duchenne Muscular Dystrophy typically show themselves before the age of 6. The condition causes fatigue and weakness of the muscles, which starts in the legs and then gradually progresses to the upper body, leaving individuals wheelchair bound by the age of 12-years-old. For some reason, the condition affects mostly boys with symptoms such as heart and respiratory difficulties, deformity of the chest and back, and potential mental retardation.

  1. Sickle Cell Anemia:

Sickle cell disease is caused by a mutation in the hemoglobin-Beta gene found on chromosome 11. Sickle cell anemia (SCA) occurs when red blood cells are unable to carry adequate oxygen throughout the body due to their deformation—healthy red blood cells are disc-shaped, but those with SCA have crescent-shaped red blood cells).  SCA can only occur a few times in one lifetime and is often present in those of African, Mediterranean, Caribbean, South and Central American, and Middle Eastern descent. This genetic disease is extremely painful, causing abdominal, chest, and bone pain, fatigue, shortness of breath, accelerated heart rate, delayed puberty, stunted growth, fever, and leg ulcers. Pain medication, rounds of folic acid, kidney dialysis, and blood transfusions can help ease some symptoms.

  1. Thalassemia:

Thalassemia refers to a collection of genetic blood disorders. It occurs when hemoglobin (oxygen-carrying molecules in the blood) can’t become synthesized by red blood cells. A Thalassemia often leads to an anemia (which typically occurs with decreased hemoglobin in the blood) and causes similar symptoms to occur—like fatigue, an engorged spleen, bone pain, a propensity to broken bones, shortness of breath, lack of appetite, dark urine, jaundice (a yellowing of the skin and whites of the eyes), and liver dysfunction.

  1. Celiac disease:

This digestive, genetic disorder inflicts patients with gluten intolerance—basically those afflicted with Celiac Disease are unable to digest any products or food containing gluten (i.e., foods processed from wheat and related grain). If left undiagnosed, the disease will often lead to malnutrition and dehydration due to severe diarrhea. Additional signs of the condition include abdominal bloating and digestive pain.

  1. Bloom’s Syndrome:

Bloom syndrome is inherited as an autosomal recessive genetic trait. The defective gene has been mapped to chromosomal locus 15q26.1 and is responsible for encoding a protein known as BLM. A single mutation, known as blmAsh, is responsible for almost all cases of Bloom syndrome among Ashkenazi Jews, they are the most prone ethnicity to Bloom’s Syndrome, with the genetic condition afflicting one in 110 in cases where parents carry the affected DNA and transmit it to a biological child. Bloom’s Syndrome increases the risk of certain types of cancer in childhood, as well as chronic pulmonary disease and type 2 diabetes. Additional indicators include smallish stature, sun-sensitive skin, a bloated nose, a high-pitched voice, face rash, and a narrowing of the face.

References-

http://www.asgct.org/about_gene_therapy/diseases.php

https://www.cff.org/What-is-CF/About-Cystic-Fibrosis/

https://ghr.nlm.nih.gov/condition/huntington-disease

http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/

https://www.nlm.nih.gov/medlineplus/ency/article/000705.htm

http://www.nhlbi.nih.gov/health/health-topics/topics/sca

https://www.nlm.nih.gov/medlineplus/ency/article/000587.htm

http://www.webmd.com/digestive-disorders/celiac-disease/celiac-disease-topic-overview

https://ghr.nlm.nih.gov/condition/bloom-syndrome

Drug Reviews: Ibuprofen vs. Aspirin

                                                              What are Aspirin and Ibuprofen? 

Both are common Over The Counter (OTC) drugs, which means they are easily available from a chemist without any medical prescription. However, this makes the patients believe that these drugs are totally safe, which is not true. Therefore, proper knowledge about usage, dosage, side effects and interaction with other drugs is essential. Both belong to the same category known as NSAIDs (Non-steroidal Anti-Inflammatory Drugs). Aspirin apart from this has a reputation for its anti-platelet action.
                                                                                  Applications
While technically both the drugs act as painkillers, Ibuprofen is more popular as a painkiller in comparison to aspirin, proving to be effective in cases ranging from mild to severe pains due to arthritis, toothaches, muscular pains and menstrual cramps. Inside the body, ibuprofen blocks the enzymes which send the pain signals to the brain, thus reducing the pain.
Aspirin is one of the oldest known painkillers to man, however, it is more commonly used as an anticoagulant, or in common man’s terms “to thin the blood”. It does this job by inhibiting the ability of blood platelets to clump together, thus preventing the formation of a clot. Someone who has suffered a stroke or heart attack is very likely to find a regular dosage of aspirin in his/her prescription. Aspirin is used as a painkiller for mild cases of headaches, migraine, and fever, but is unsuccessful in curing pains caused by muscle cramps, bloating and skin irritation.
                                                                                   Side effects
Talking about the side effects of these drugs, the two have similarities as well as differences. Both can cause problems in the gastrointestinal tract. It is advisable that these two should not be taken empty stomach. Doctors recommend that at least a light snack should be taken prior to ingesting these medicines. On ignoring the advice the patients should not be surprised if they have a heartburn or an upset stomach.
Rare side effects of ibuprofen include intestinal and stomach ulcers perforated ulcers and bleeding ulcers, all of which may prove to be fatal. Aspirin overdose can also cause excessive stomach bleeding, which may have some serious consequences. Also, if you have a history of high blood pressure, then it is pretty sure that aspirin is going to worsen the problem. Aspirin dosage should be stopped a week prior to any type of surgeries to reduce the risk of excessive bleeding.
Long term effects
Aspirin is commonly prescribed in moderate doses to heart patients on a regular basis as it prevents strokes and heart attacks. Keeping in mind the risk of high blood pressure, this therapy is applied to only those patients who have already suffered a stroke or heart attack. Long term dosage of aspirin has also been proven to have anti-cancer effects on the body.
However, the less ibuprofen you use, the better it is for you. The best way to determine your dosage for ibuprofen is to use it in the least amount possible for the least number of times. Ibuprofen causes strain on the liver and kidney. So patients with a history of liver or renal problems should avoid it, or seek medical advice before using it. Long term intake of ibuprofen may even lead to a development of renal problems. Ibuprofen has also known to contribute towards heart attacks.
                                                                  Combination with other medicines
Aspirin and ibuprofen should not be taken together as ibuprofen renders passive the anti-coagulating action of aspirin.
Aspirin should not be administered along with alcohol intake as it increases the risk of stomach bleeding and should not be used by patients using antidepressants as it may lead to excessive thinning of the blood. While taking medicines for viral infections or influenza (common cold), intake should be absolutely stopped as it may lead to a rare but potentially lethal disease of the liver known as Reye’s Syndrome, which damages the liver and the brain.

 

References-

http://www.webmd.com/drug-medication/otc-pain-relief-10/pain-relievers-nsaids
http://www.diffen.com/difference/Aspirin_vs_Ibuprofen
http://www.iodine.com/compare/ibuprofen-vs-aspirin

Aspirin vs. NSAIDs: Which Is Best?

Breast Cancer and the Genes Behind it

Before we delve into the topic of breast cancer and the genes behind it, let’s first brush up on our basics, what is cancer? Cancer is the name given to a collection of related diseases. In all types of cancer, some of the body’s cells begin to divide without stopping and spread into surrounding tissues.It can start almost anywhere in the human body, which is made up of trillions of cells. Normally, human cells grow and divide to form new cells as the body needs them. When cells grow old or become damaged, they die, and new cells take their place.When cancer develops, however, this orderly process breaks down. As cells become more and more abnormal, old or damaged cells survive when they should die, and new cells form when they are not needed. These extra cells can divide without stopping and may form growths called tumors.

 

Now that we know what exactly cancer is, let’s discuss breast cancer, as we can figure from the name, the majority of this cancer’s victims are females, with their risk of getting it increasing with age. One in eleven women gets breast cancer at some point in their lives. While there are quite a lot of factors which increase the chances of a lady getting breast cancer, One that increases the chances the most is inheriting it via your parents. Breast cancer caused by inheriting a changed gene is called hereditary cancer. We all inherit a set of genes from each of our parents. Sometimes there’s a change (called a mutation) in one copy of a gene which stops that gene from working properly.

There are several genes for which inherited changes may be involved in the development of both breast and ovarian cancer. These are genes which normally control cell growth and prevent a woman getting breast or ovarian cancer. Some of these are genes that you may have heard are BRCA1 and BRCA2. Their names come from the abbreviation of ‘breast cancer 1’ and ‘breast cancer 2’. Both men and women can inherit a change in these genes.If a woman has inherited a change in one of these genes, she has a higher chance of breast or ovarian cancer but that doesn’t mean she’s certain to get cancer. Less than 5% of all breast and ovarian cancers can be explained by an inherited gene change in BRCA1 or BRCA2.

Breast-Cancer

Like all cancers, if found early, it can be promptly treated. Any change in the size or shape of the breast, a lump in or close to the breast,any change in the nipple, such as a discharge

What exactly are BCRA1 and BCRA2? BRCA1 and BRCA2 are human genes that produce tumor suppressor proteins. These proteins help repair damaged DNA and, therefore, play a role in ensuring the stability of the cell’s genetic material. When either of these genes is mutated or altered, such that its protein product either is not made or does not function correctly, DNA damage may not be repaired properly. As a result, cells are more likely to develop additional genetic alterations that can lead to cancer.

Abnormal BRCA1 and BRCA2 genes may account for up to 10% of all breast cancers or 1 out of every 10 cases.

 

Are genetic tests available to detect BRCA1 and BRCA2 mutations?

Yes. Several different tests are available, including tests that look for a known mutation in one of the genes (i.e., a mutation that has already been identified in another family member) and tests that check for all possible mutations in both genes. DNA (from a blood or saliva sample) is needed for mutation testing. The sample is sent to a laboratory for analysis. It usually takes about a month to get the test results.

As the saying goes, “Knowledge is power” And the saying is especially true in this case, for you now hold the power to potentially cure yourself of this cancer if you treat it at the right time. Regular tests, along with a healthy lifestyle can ensure that your risk of getting this cancer is at a minimum.  

References-
https://www.cancervic.org.au/genetics-breast-cancer

http://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet

http://www.breastcancer.org/risk/factors/genetics

Breast Cancer and the Genes Behind it