a researcher holding genetic linkage

How can DNA sequencing be applied to the medical field?

What is genome sequencing?

If you could study the map of your patients and foresee the pitfalls and obstacles – if you could navigate them and make your patients’ life easier and safer – would you?

Genome sequencing can break open the cell membranes that exist in a sample of your patient’s blood or saliva to replicate all 3 billion base pairs of chromosomes in the body. Each chromosome has thousands of genes that make up the DNA, and modern science has the potential to find every chromosome that is extra, deleted, or inverted. You and your patient can know the exact order of his/her genetic material.

Whole Genome Sequencing provides the clinician a comprehensive view of a patient’s entire set of genetic material. Whole Exome Sequencing only sequences a targeted region (1.5%) of the genome.

So, what does that mean?

Many rare diseases are caused by a single gene alteration, such as cystic fibrosis and sickle cell. But we can also use genome sequencing to analyze and interpret mutations that may cause cancer, diabetes, and other common deadly afflictions. You can use the knowledge of the patients’ predisposition for certain diseases to proactively alter their diet and lifestyle.

Genome sequencing can offer insight into the expression of your patients’ genes to give them control over their quality of life.

How can genome sequencing be used in medicine?

One-size-fits-all treatment doesn’t work. We know that because not all people suffering from the same illness have the same prognosis, or respond in the same way to a medication’s strain, dosage, or side effects. Genomic data can imply a need to adjust and personalize your patient’s treatment plan.

It’s getting cheaper and faster to sequence a human’s genome. That puts it in high demand. With the onslaught of new data on diseases at the molecular level, the pharmaceutical industry is investing in personalized medicine, meaning an individual course of drugs or therapy prescribed for each DNA sequence.

DNA sequence variants (DSVs) change from person to person and even genome to genome. Each genome contains approximately four million DSVs. These DSVs provide valuable information for genetic-based diagnosis. By pairing your patients’ genomic data variables with their phenotypic information and past medical history, you can decide upon the effective course of treatment.

Single-Gene Disorders

Many DSVs can lead to single-gene disorders, including: 

  • Cystic fibrosis
  • Hemochromatosis
  • Tay-Sachs 
  • Sickle cell anemia

While these disorders are usually caused by one gene, the gene could have experienced several different types of mutations that create the same disorder with varying severity.

Common Complex Diseases 

Unlike single-gene disorders, there are complex diseases that affect multiple genes and tend to run through family lines, although genetic risks vary and it is hard to determine the path of inheritance. Some common complex diseases that result from genetic mutations include:

  • Asthma
  • Diabetes
  • Epilepsy
  • Hypertension
  • Manic depression
  • Schizophrenia

Complex diseases can also present as developmental abnormalities such as a cleft lip and congenital heart defects.

Genome Sequencing Applications?

Even what we don’t understand, even genomic data that’s not yet actionable or relevant is helpful. By studying diverse genetic characteristics, medical professionals hope to identify the microbes responsible for the different types of disease. That way, drugs, and devices can be developed to address illness with specific treatments for specific people.

How Can Genetics Help Predict Diseases? 

With greater accuracy comes a greater chance of survival. Tentatively, treatments would become even more efficient in hospitals, undergoing unnecessary tests, screenings, and surgeries that all fail to identify or cure the illness. Instead of prolonging the suffering of the patient, you can be sure of the diagnosis and treatment plan, and you can be sure it will work.

As a society, genome sequencing can spur preventative action. Perhaps, we can avoid epidemics, intellectual disabilities, and more. We can properly regulate our risk for diabetes and cardiovascular disease. We can use our genetic makeup, even with zero family history, to ensure every individual knows and prepares their potential for a full, healthy life.


What are the oppositions to genome sequencing?

Do we all have a responsibility to inform ourselves and our children of our potential for illness? It’s controversial.

Some argue that collecting genomic data raises a number of ethical issues:

  •       Fear of untreatable diseases, such as Alzheimer’s or Parkinson’s
  •       Inflated insurance rates
  •       Exploitation by pharmaceutical companies
  •       Abortion of high-risk fetuses

For some, ignorance is bliss. For others, genome sequencing prevents a future of hardship for themselves and their families.

Psomagen uses our biotechnology to deliver fast, reliable results to our patients. Act now to receive whole exome, genome, or RNA sequencing for your diagnosis and live a disease-free life: Contact Us.