This blog discusses latest trends and the role technology plays in the life sciences industry. It focuses on Infosys life sciences services and solutions and how they can help accelerate business.

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April 25, 2014

Genome Sequencing Technologies - Part 1

Every individual has a unique DNA sequence, and any changes in DNA can lead to a disease condition. A lot of research has been done so far in the direction of linking the genetic variations with health and disease outcomes. As we know, Human Genome Project (HGP) was one of the largest international collaborative biological projects, whose primary goal was to determine the sequence of human DNA. This project helped in advancement of medical science in many respects like in identification of cancer related genes and mutations, in designing of medicines and  prediction of their effects, also, helping in understanding the genetic variation between individuals and designing personalized medications and treatment plans.

Sequencing cost has dropped tremendously since 2002, from hundreds of millions of dollars to just a few thousand dollars. Multiple repositories and consortiums have been established since the first genome sequence, building a rich catalog of genomes from people around the world. Also, these have been used to study genomic level changes in different diseases. Not only human genomes are major focus of the community, but also they are focusing in making inventories of the genomes of microbes, plants, and animals. There is a phenomenal increase in the number of sequenced genomes since 1995, from 85 genomes to ~4500 genomes till 2012. With this large amount of data, the analysis and identification of disease specific genomic factors has also become more and more challenging.

In general there are three major sequencing approaches which are widely being used whole genome, exome, and transcriptome sequencing. Based on scientific question and availability of samples one of these approaches are selected which in turn helps in selecting the right sequencing platform.

Whole genome sequencing is the most expensive method which involves sequencing of entire genome. This technology is still an expensive and difficult method of sequencing. There is a widely used whole genome sequencing technique which is widely used as it produces long and better quality sequencing reads. But there is an important limitation, in order to provide better power to genomic data analysis, a large sample size is required and this being the most expensive technology, is not yet been feasible to be used for population based studies. 

Another type of sequencing where the final nucleotide product of our transcription machinery, exons are used. These exons are involved in formation of various proteins in our body. This method is used to identify mutations which help in understanding genetic diseases. This type of sequencing is very useful for identification of genetic abnormalities in congenital defects, in rare genetic disorders. This approach has been favored as it requires only about 5% sequencing of whole genome, which makes it quite cheaper to use. Since there are about 180,000 exons found in the human genome which form all proteins in human body, and the around 85% mutations in these regions have been found to contribute to most of the genetic disorders.

The third and very recent sequencing technology is transcriptomic sequencing. The transcriptome represents a very small percentage of human genome. It has been seen that the transcriptome of a cell is dynamic, as it continuously changes in comparison to human DNA sequence. Due to advancement in next generation sequencing technology, it is now possible to sequence different RNA transcripts in a cell. These transcripts help in understanding, how a single gene codes for multiple proteins, how a hybrid gene is formed by fusion of two genes and how expression of genes alter in a disease condition.

In recent years we have seen a rapid growth and advancement in genomic sequencing technologies. These approaches have been seen highly applicable for both genetic and complex diseases, helping us moving faster towards the goal of personalized medicine. All in all, the future of genomic technologies looks promising.

April 10, 2014

How Smarter Manufacturing Can Drop Drug Prices to Mere Cents

I think it's safe to say that much of what we do in the marketplace and much of what we demand as consumers is predicated on the old saying "time is money." We're willing to pay a premium to go faster, wait in shorter lines, and to get responses in the flick of an eyelid. 

But what if I told you that in certain cases, those premiums were enormous? Would you be willing to slow down a process or take a bit more time if it meant saving a considerable amount of money? Before you answer this question, consider what the CEO of a discount airline recently said during an interview. What consumers say is often a lot different from how they act. 

This airline executive made the statement in response to questions that suggested his airplanes had less legroom than any of his competitors, that stewardesses charged $3 for a cup of water, and that the overhead bins had billboard advertisements on them. Over chat rooms on the Internet and in consumer magazines, customers said they overwhelmingly loathed the airline. But it seems it was also one of the most successful such airlines in the business. People claimed they didn't like the airline's cost-cutting tactics ... until it came time to buy a ticket!

I think the same dynamics apply to the pharmaceutical industry. In my recently published book, Pharma's Prescription: How the Right Technology Can Save the Pharmaceutical Business, I suggest that the industry needs to re-think its manufacturing practices. If it did, the benefits to the consumer would be readily apparent. Here's what I mean: Imagine you can obtain a list of ingredients that, when mixed according to the company's specifications, produces the proper dose of a drug you were recently prescribed? 

You would be dealing with a handful of ingredients that would cost collectively far less than the pharmaceutical in final pill or liquid form. By far less I mean really, really less - one thousandth of what you normally pay. What I've just described might sound familiar because it's how druggists used to operate a century ago, and before that, how many people made home remedies. But in its modern incarnation, this plan would involve space-age materials that simply leave the mixing to the end user. Doing so can reduce the cost of a drug to one-thousandth its current price.

Think if you could buy a steaming hot cup of coffee readily brewed at Starbucks for $4,000. Or if you could take the beans home, grind them, and brew them for $4 a cup. Which scenario would you likely choose? This stark contrast would be unthinkable anywhere but the modern pharmaceutical industry. The U.S. Department of Commerce recently put out a highly disputed (by Big Pharma) report that attempted to show the true cost of a person's prescription drugs. For example, the cost of Celecoxib, the active ingredient in Celebrex, is 61 cents although the retail price of a 100 mg tablet in a 100-tablet package is $130.27. The active ingredient in Claritin is 71 cents although a 100 mg tablet of Claritin in a 100-tablet package costs $215.17. 
So I ask the question: Would a typical consumer be willing to buy his medicine for 61 cents plus $5 shipping and handling and then take the time it would take to brew a pot of coffee in order to prepare the final form of the drug? Or, using the time-is-money reasoning, would that consumer prefer to buy the drug ready-made for $130.27? In fact, in my book, I say that if I were working in a pharmaceutical manufacturing plant, I'd be starting a pilot program to do just this. My hunch is that smart pharmas will begin to consider this minuscule, home-based manufacturing alternative in the near future.

When a pharma company ships its drug, along with any necessary binders, preservatives, etc. directly to the patient or caregiver, there's no shipment and storage hold-up at the formulation plant, or at distribution companies and retailers. The person who needs the drug and who holds the prescription receives the drug directly.

I know what some of you are thinking: This solution to the runaway cost of prescription drugs is an old solution and calls on Victorian notions of mixing together remedies. But my response is: So be it. Do consumers criticize IKEA for selling their furniture in a form that requires a final assembly step after the customers takes it home? Of course not. They value the cost-savings and convenience of the overall product.
It wouldn't be such a bad thing for consumers and enterprises alike to re-think many of the accepted norms in the pharmaceutical industry. It's high time we begin to come up with a new prescription and mode of treatment for what's ailing that business.

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