Genomic DNA sequencing-Image courtesy of cooldesign at
Genomic DNA sequencing-Image courtesy of cooldesign at

DNA sequencing technologies have flourished so much that the price of human DNA sequencing has been reduced from millions 10 years ago to thousands. If this advancement in DNA sequencing continues, sequencing a human genome will reach to 500-1000 dollars.  Many biotechnology companies plan to sequence thousands of people with different diseases. Some have the goal of sequencing the whole human population.  What a goal!  When you produce massive amounts of DNA sequence data, you will have two problems. The first problem is a lack of bioinformatic tools to capitalize on the understanding and the meaning of biological functions of DNA sequences thus creating a huge opportunity for the bioinformatic market to grow. In fact, the global bioinformatics market is estimated to reach to $13.3 billion by 2020.  The second problem is the need for storage for all the DNA sequence big data. Recent research estimated that the growth of big genomic data will exceed astronomy, YouTube, and Twitter by 2025.  This creates huge logistical problems to advancing science if we don’t prepare for this now. Some of the technologies making a big splash are:

  • Pre-implantation genetic diagnosis (PGD). This technology gives the power to parents to not pass diseases to their children. This involves testing the fertilized embryos for inherited genetic disease genes and to avoid selecting them to be implanted.  Many genetic diseases manifest themselves as a mutation of a DNA sequence which can be identified by DNA sequencing.   That specific mutation of the DNA sequence is called Single Nucleotide Polymorphism,  SNP for short.  Scientists locate these SNP(s) which usually lead to the presence of the disease.  Selecting this technology will allow us not to pass many SNP’s which are identified for breast cancer for example.   But since genetic diseases might not appear in many generations, to know which gene to need to test for might be a tricky answer.  Scientists solved this problem by estimating the genetic risk combination of two DNA sequences coming together from parents.
  • Estimating genetic risk before pregnancy DNA sequencing reveals certain biomarkers (SNPs) for genetic diseases which can be used to estimate what would happen if the gene sequences of biological parents come together.  To do that, scientists analyze the DNA sequence combination with potential egg donors and sperm donors.  The analysis allows scientists to estimate the risk of genetic diseases which a fertilized egg is prone to harbor.  In a way, you test for the digital hypothetical baby before moving forward with PGD and In vitro Fertilization (IVF).

    Big data problem-Image courtesy of Stuart Miles at
    Big data problem-Image courtesy of Stuart Miles at
  • Big data in fighting cancer.  The American Society for Clinical Oncology CancerLinQ initiated a large project to populate all the DNA sequences of patients who have cancer to be analyzed by researchers.  This is really a very important step to be able to discover the biomarkers of the culprit genes (SNPs) which cause the cancer or are associated with cancer.  It is known that cancer cells mutate as soon as we treat them with chemotherapy drugs creating different forms of cancer which are resistant to the drug. In a way, doctors are playing catch up with mutated cancer cells.  Sequencing all the genes associated with cancer gives us a heads up in selecting the customized treatment for the cancer patient .  This project  is a  game changer in fighting cancer for the next 10 years. I will not be surprised if we have several breakthroughs to treat certain types of cancer in the near future. 
  • Genomic DNA sequence editing .This technology was discovered in bacteria when bacterial cells synthesized a protein to defend their DNA from being invaded by viruses. The protein was genetically engineered to remove a specific DNA sequence (virus DNA in bacterial cells) by cutting it and replacing it with another DNA sequence in vivo (inside the cell).  The simple implication of this technology is the ability to remove DNA sequences of genetic diseases in the egg or sperm and replace them with normal DNA sequences.  Genomic editing works to remove mutated DNA sequences in rats and to replace them with normal DNA sequences.  This technology is so new that it started only two years ago.  Groundbreaking future applications will eradicate many genetic diseases in the future.

The future of all these technologies is simply awesome, and I am excited to see the implication of this in the next few years to come.

This blog is published every week on Saturday before 10:00 pm. US Eastern time. Thank you for reading my blog. I would love to hear from you.

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