Tag Archives: genome sequencing


What is Genome Sequencing?

Genome Sequencing is the wave of the future for diagnosing and treating medical conditions. Back in high school we were all taught about genes. Humans have 23 chromosome pairs – half from their mother and half from their father. Since the discovery of chromosomal pairs and genes, scientist have been able to drill down further to uncover the building blocks of our genetic makeup. If you break it down into smaller pieces you get to genomes. Genome sequencing is the road map to your genetic makeup. It will drill down on the various mutations in hopes of providing answers to the cause and best treatment for diseases. Often cancer treatments can be personalized based on the genetic information.  Researchers are finding many uses for Genome Sequencing in diagnosis and treatment and medical policy.

More and more hospitals are offering genome sequencing to their patients. In order to do genome sequencing, you will need to have a blood draw. The price of genome sequencing has decreased dramatically in recent years; but is by no means cheap. If you are lucky enough to consult with the National Institutes of Health in Bethesda, MD they will provide one at no cost to their patients.

According to The National Institutes of Health, “The Human Genome Project estimated that humans have between 20,000 and 25,000 genes. Every person has two copies of each gene, one inherited from each parent. Most genes are the same in all people, but a small number of genes (less than 1 percent of the total) are slightly different between people.” These mutations can sometimes lead to health problems. “Genomic medicine is an emerging medical discipline that involves using genomic information about an individual as part of their clinical care (e.g. for diagnostic or therapeutic decision-making).” If you want to know more about the science of it, we recommend going to the NIH site and reading further.

The idea behind genome sequencing is that we can have more personalized medical treatments. When my family’s genomes were sequenced for research into my son’s health condition, we did get answers. They found my husband had a genome pairing with a mutation on one half which did not seem to affect his health. Gavin inherited that mutated genome and unfortunately the other side of the pair mutated on its own creating a genome that was defective. While doctors had been studying this defect in mice at Cincinnati Children’s, they had never met a patient with the mutation until Gavin. From this information, the doctors knew that a bone marrow transplant would fix his health permanently if he survived it. First though he would require an undamaged liver. Autoimmune hepatitis from his defective Genome had taken its toll. Unfortunately, his weakened immune system did not work well enough when he went through a liver transplant in order to prepare for the bone marrow transplant.  An infection took our beautiful son from us.

The genome sequencing has lead to a whole new field medicine called gene editing. If we know which genes are malfunctioning, it stands to reason we can figure out how to switch them out. Crispr is attempting to do just that. Wouldn’t it be world changing to be able to fix chronic illnesses and diseases without knives, radiation and chemo?

Strides are being made and this article about Crispr is worth reading.

We know so much about the human body, but still have a ways to go. Research is the key and for research there must be funding. NIH is funded by the government and many hospitals and science labs receive funding through NIH and private donations. While current medicine was unable to cure my son, I hope to see others cured in my lifetime.