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Genomic-enabled Medical Care

Problem: Over the last decade, the cost to sequence the genome has dropped exponentially. As described by WiseGeek,

Two groups tied in first sequencing a human genome -- the Human Genome Project, funded by the US Department of Energy, and Celera Genomics, a private company. The Human Genome Project took 10 years and cost $3 billion USD (US Dollars), while the Celera genome sequencing project took two years and cost just $300 million USD. Both projects concluded in 2000 or 2001, depending on what is considered a "complete" human genome sequencing.

Gene sequencing costs have been dropped exponentially since the sequencing of the human genome in 2000. In 2001, the genome sequencing of James Watson, a co-discoverer of the structure of DNA, was completed at a cost of $2 million USD. In 2008, the first full genome sequencing services were sold commercially to customers for a cost of $100,000 USD. By March 2008, one company, Applied Biosystems, completed a human genome sequencing in two weeks for $60,000 USD, the best cost yet. Another company, Intelligent Bio-systems, has developed a system that can sequence a full human genome in 24 hours for $5,000 USD

By late 2015, the cost to sequence a human dropped below $1,500 and has been getting cheaper ever since. What are the consequences of this cheap technology?

NHGRISequencing_Cost_per_Genome_Aug2020.jpg

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Solution: This business would operate under the assumption that cost of sequencing genomes will be less than $100 in the coming years. They would aim to create technologies that are uniquely enabled by cheap sequencing. Singularity Hub reflects on the importance of this $100 price tag,

The breakthrough could spur further price falls as well by breaking the stranglehold that industry leader Illumina has had on the market. Dennis Grishin, co-founder of startup Nebula Genomicstold MIT Tech Review that he believed the reason the price of genetic sequencing had remained stuck around $1,000 in recent years was due to Illumina’s near monopoly.

$100 genome could significantly broaden the scope of what we can do with genetic data. The growing field of population genetics promises to uncover the genetic quirks that set different groups of people apart, which can prove vital for developing new medicines and understanding the susceptibility of different groups to certain conditions.

As I see it, there are three major areas where this business could play:

  1. Tailored cancer or health treatment: This business would sequence individual people’s DNA and sequence the DNA within their cancerous cells in order to provide targeted and unique treatments for individuals and their specific conditions. In combinations with new mRNA treatments, which I recently wrote about on this blog earlier this year, sequenced-DNA and mRNA could open up entirely new doors of medical treatment.

  2. Recreationally Sequencing Usage: As reported by Wired Magazine, “Today, slightly more than a million people have had their whole genomes sequenced. Compare that to the 17 million estimated to have had their DNA analyzed with direct-to-consumer tests sold by 23andMe and Ancestry. They use a technology called genotyping, which takes about a million snapshots of a person’s genome. That might sound like a lot, but it’s really less than 1 percent of the full picture.” Given the prevalence of genotyping, I can only imagine that a full genomic sequencing would be significantly more popular. Informal surveys conducted by Green and others suggest that doctors will be willing to order up whole genome sequencing, even for healthy patients, as soon as the price comes down.” Wired continues, “And when that flood of DNA starts to roll in, they’ll have to become conversant in the ABCs of GATC. Patients will, too.”

  3. Understanding Potential Health Outcomes: Sequencing DNA can serve as a prescriptive understanding of what the health outcomes of an individual may be. Of course, no test is perfect and the same is true of DNA. Even if a sequence was fully completed, it would only show individuals a propensity for certain diseases. However, even this may be enough. By knowing what you are likely to run into, individuals can attempt to institute lifestyle adaptions for their diseases.

  4. Aggregated Data Analysis: Both for research and in private use cases, sequencing the genome would allow for large banks of information to be created that can be used for research, trend analysis, and more. This data could be used to study diseases, effects of climate, lifestyle trends, and more. It could also be combined with other datasets to be even more robust.

As described by Grandview Research,

The global genomics market size was valued at USD 20.1 billion in 2020 and is expected to expand at a compound annual growth rate (CAGR) of 15.35% from 2021 to 2028. The scientific community has tried to address genetic susceptibility and severity to SARS-CoV-2 infection by combining research efforts using existing genetic databases. Multiomic-based approaches and genome-wide association studies (GWAS) have been employed to uncover biological networks and common variants underlying host-pathogen interactions. Similarly, data derived from genomes, such as polygenic risk scores (PRS), ABO blood groups, and HLA haplotypes, can be potentially used to decipher COVID-19 complications, resistance, and susceptibility. Moreover, biobanks that link electronic health records (EHRs) to genomic data can be leveraged to study the impact of genomic factors on the clinical course of patients infected with SARS-CoV-2.

Monetization: Fees for sequencing genomes.

Contributed by: Michael Bervell (Billion Dollar Startup Ideas)

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