Presently, a human genome can be sequenced within a few months and the now costs on average between $4,000 to $10,000. The cost may continue to drop as Sequencing Industry leaders, Illumina release new products that project sequencing costs to be $1000/ sequenced genome.
So has this technology delivered on its promise? Well, not quite yet.
Sequencing has been able to provide many insights into many rare inherited and undiagnosed diseases. Most recently, sequencing helped diagnose a mysterious infection contracted by a 14 year-old boy, Joshua Osborn, in Wisconsin.
Joshua's family was skeptical that sequencing would provide any insight into why their son had suffered encephalitis and was in coma; yet they agreed to the test. Within 48 hours of sequencing DNA found in his cerebrospinal fluid, physicians were able to identify the bacteria and eradicate it within days.
In other cases, sequencing has been able to help physicians identify mutations in cancer and aid with specific treatment options to target mutations as the most effective solution with the least amount of complications. Companies such as Foundation Medicine, GeneDx, Guardant Health, PGDx, and Personalis are all competing in this space alongside many large research institutions: Baylor, Yale, and Columbia to provide sequencing and interpretation services.
The answer to whether or not sequencing technology will help healthy patients is still unknown. Several studies (Genome wide association studies – GWAS) have helped to understand population genetics and epigenetics, but not many studies have been conducted with the purpose of understanding how genetics predicts the onset of common ailments like diabetes, cardiovascular disease, Alzheimer’s etc. The main reason being that these diseases are multi-gene disorders. Having a mutation in any one gene that is related to the disease may increase your risk of developing that disease but it cannot predict the likelihood of the disease manifesting.
Sequencing has been able to provide many insights into many rare inherited and undiagnosed diseases. Most recently, sequencing helped diagnose a mysterious infection contracted by a 14 year-old boy, Joshua Osborn, in Wisconsin.
Joshua's family was skeptical that sequencing would provide any insight into why their son had suffered encephalitis and was in coma; yet they agreed to the test. Within 48 hours of sequencing DNA found in his cerebrospinal fluid, physicians were able to identify the bacteria and eradicate it within days.
In other cases, sequencing has been able to help physicians identify mutations in cancer and aid with specific treatment options to target mutations as the most effective solution with the least amount of complications. Companies such as Foundation Medicine, GeneDx, Guardant Health, PGDx, and Personalis are all competing in this space alongside many large research institutions: Baylor, Yale, and Columbia to provide sequencing and interpretation services.
The answer to whether or not sequencing technology will help healthy patients is still unknown. Several studies (Genome wide association studies – GWAS) have helped to understand population genetics and epigenetics, but not many studies have been conducted with the purpose of understanding how genetics predicts the onset of common ailments like diabetes, cardiovascular disease, Alzheimer’s etc. The main reason being that these diseases are multi-gene disorders. Having a mutation in any one gene that is related to the disease may increase your risk of developing that disease but it cannot predict the likelihood of the disease manifesting.
However, many research and healthcare systems are trying to answer that very question. Projects are underway that will sequence and monitor thousands of healthy individuals with the goal of discerning how genetics plays a role in disease onset.
A few examples of these studies are:
Institute of System Biology - 100K Wellness Project
Genomes 2 People – MedSeq
Genomes 2 People – BabySeq
Genomics England – 100,000 Genome Project
U.S. Department of Veterans Affairs – Million Veterans Program
Only time will tell, but it will be interesting to see what data these and other research projects will collect, and then to see what innovation will spring up to capitalize on those findings to help people live longer, healthier lives.
Nina currently is a Marketing Intern at Personalis, a genomic startup company in Silicon Valley. She is the VP of Events and Alumni Relations for the BioPharma/Healthcare Club, and has actively been involved as a co-chair for the Innovation in Health Care Technology Conference at CMU (2014).
Prior to Tepper, Nina worked as an R&D Engineer developing DNA sequencing instruments at Life Technologies. During her six years at Life Technologies she developed a passion to build customer centric solutions that improved the lives of others. At Tepper, she is pursuing Entrepreneurship with a focus on Healthcare. In her spare time, she enjoys Spanish Red wine and friendly games of bowling or Ping-Pong.
Genomes 2 People – MedSeq
Genomes 2 People – BabySeq
Genomics England – 100,000 Genome Project
U.S. Department of Veterans Affairs – Million Veterans Program
Only time will tell, but it will be interesting to see what data these and other research projects will collect, and then to see what innovation will spring up to capitalize on those findings to help people live longer, healthier lives.
------- About the Author: Nina Patel --------------------------------
Prior to Tepper, Nina worked as an R&D Engineer developing DNA sequencing instruments at Life Technologies. During her six years at Life Technologies she developed a passion to build customer centric solutions that improved the lives of others. At Tepper, she is pursuing Entrepreneurship with a focus on Healthcare. In her spare time, she enjoys Spanish Red wine and friendly games of bowling or Ping-Pong.
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