Genome Sequencing Technologies – The Next Big Thing In Healthcare

The sequencing of the human genome is rapidly becoming less expensive, leading many to believe that genome sequencing could soon become a fundamental part of not only disease diagnosis and management, but also the prevention and customization of treatment plans. Indeed, a significant amount of resources is currently being devoted to the field of genomics, all in an attempt to achieve breakthroughs in the analysis of different medical conditions, like the mutation of genes.

McKinsey Global Institute estimates that the potential long-term impact of genome sequencing in areas like healthcare, agriculture and biofuels includes economic benefits to the tune of $700 billion to $1.6 trillion. The agency estimates that about 80% of that value will be realized from the technology’s applications in healthcare.

Let’s look at what next-generation genomics is all about and what it holds for the healthcare industry:

What Is The Technology?
The McKinsey Global Institute defines disruptive genomics as: “the combination of next-generation sequencing technologies, big data analytics, and technologies with the ability to modify organisms, which include both recombinant techniques and DNA synthesis (that is, synthetic biology).”

What Is So Different About The Technology Now?
A group of scientists hailing from all parts of the world successfully sequenced the first human genome in 2003 after 13 years of hard work. The “Human Genome Project”, as it was called, cost nearly $3 billion. Fast forward ten years, and we now have the ability to artificially sequence genes with the help of machines. The cost of doing that is expected to eventually come down to $1,000 per procedure, while the process itself is expected to eventually take only a few hours to complete.

Over time, the cost of genome sequencing has fallen sharply, while scientists’ ability to analyze the terabytes of data generated by genome sequencing procedures has improved. This has happened largely because the technology has garnered the attention of some of the smartest individuals in genomics, medicine, and computer modeling, whose individual contributions have helped refine the process. The technology has also benefited from a surge in research funding. Many startups and venture capitalists have also flocked to gain the first-mover advantage in the genome decoding space, which has helped open up a world of opportunities in the healthcare industry.

What Are Some Of The Implications Of The Technology?
Disease Prevention
Genome sequencing gives scientists a snapshot of a person’s genetic history. Genophen, a privately-held company, has even been able to harness the technology to create a ‘risk engine’ which provides individuals, through a complex data mining procedure, the likelihood of their developing life-threatening afflictions.

Genophen successfully raised $2 million in a third round of funding in November 2013 to create and implement software that can look at a range of details regarding an individual’s lifestyle and genetics to predict which ailments the person is at risk to. Genophen’s software is essentially a clinical support tool that helps people collaborate with their doctors to manage long-term health by allowing the latter to develop a deep understanding of the individual’s genomic mapping, lifestyle, and family history.

Personalized Medicine
No two individuals carry the same genomes. This ‘uniqueness’ allows for variation in the ways different diseases impact individuals and how patients respond to various therapies and treatments. For this reason, genome sequencing can play a big role in identifying how best to treat afflicted individuals.

Genome sequencing also helps doctors get to the root causes of a disease. A Silicon Valley-based company called Counsyl already offers a genetic test that costs as low as $600. The test can be used to screen children for more than 400 mutations and 100 genetic disorders.

Cancer Treatment
Genome sequencing is already being used to tailor treatment plans to suit the unique needs of each cancer patient. Infact, Francis deSouza, President of Illumina, Inc. (ILMN), is of the opinion that advancements in cancer genome sequencing will lead to major advancements in treatments. He says that current cancer treatment plans “classify cancer by where it shows up, instead of the genetic profile of the cancer, [which is] a primitive approach to the problem.” DeSouza recommends full sequencing of tumor and the patient to better understand how to treat him or her.

Genome sequencing has the potential to help in the creation of treatment plans that can mitigate the risk of deaths associated with diabetes. McKinsey Global Institute estimates that 2025 could see three million individuals succumb to complications related to Type 2 diabetes. The institute further estimated that 20-40% of cancer patients with access to genome sequencing technology will see their life expectancy go up by one year.

Genomic Editing
There is a possibility that advancements in the technology will allow scientists to edit the human genome, which can be used to eliminate the risk of a disease long before its onset. Scientists are currently researching ways to turn this idea into a reality, and there may come a time when we will be able to edit an unborn fetus’s genetic structure to give the baby a specific eye color and a predisposition for skinniness.

Genome sequencing is a fairly new technology, and hence faces an uphill battle as it seeks public approval. There are ethical issues involved in genome sequencing, particularly in genome editing, which can allow future parents to ‘customize’ their babies for skin color, eye color and intelligence levels. Yet another issue associated with the technology is that of data ownership: the data from sequenced genomes is an extremely valuable resource for scientists researching and testing various treatments. These treatments may never make it to the market if patients retain ownership rights to the data and refuse to share it. Some critics also argue that the technology will allow health insurers to deny coverage to at-risk individuals or increase their premiums based on genome sequencing results.

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