Next-generation sequencing (NGS) has revolutionized the world of genetic study. Not long ago, simply reading the blueprint of human DNA was an incredible idea – barely within the realm of “might be possible.” Scientists previously thought, if somehow human DNA could be decoded, could a baseline human map be established? Perhaps such a map could be compared to that of any individual and reveal mutations that point to disease.
Eventually, all 3 billion base pairs (DNA code letters) of the human genome were fully identified and a reference baseline was created. Genetic technology is currently racing forward with the potential for tailor-made medicine.
Completely decoding human DNA was a historic accomplishment – yet the monumental effort required over 10 years of work. Today, NGS uses techniques that can read the specific human genome within 1 day. Millions of small DNA fragments are processed in parallel, then matched to the reference human genome.
This powerful workhorse can identify important areas of a patient’s DNA to be studied for effective medical care. An individual, personalized approach to health care is now possible.
Next-generation sequencing enables researchers to find genetic signatures that reveal the existence or potential for diseases and disorders. Many disease patterns have been found, including those for Parkinson’s disease, age-related macular degeneration, prostate cancer, type 2 diabetes, Crohn’s disease, and heart disorders.
More gene variants are discovered regularly.
This genetic tool is a great alternative to the one-size-fits-all approach so commonly followed with drug treatment, diagnostics, and prevention. Differences between individual people can now be identified at a molecular level and can be leveraged to provide more effective treatment.
Much like purchasing a shirt without checking its size, many providers prescribe standard drug regimens based on expected outcomes of the general population. It is now possible in many cases to choose the correct drug at the right dosage for the correct person after reviewing NGS results. Patients for whom a drug will not be effective or who will respond with higher-than-average sensitivity may be identified in advance.
Patients with the same tumor type can respond in a host of different ways to treatment. Tumor cell analysis identifies potential therapeutic targets and pathways to point the way to compounds and drugs more likely to be effective for a particular person.
NGS is capable of finding mutations that can signify a risk or higher-than-average likelihood of future disease development. Subsequent prevention measures can be put in place for the patient at risk.
Body tissue and fluid may be sequenced not only to identify a person’s genetic makeup but also to isolate DNA belonging to infectious agents.
This individualized approach to health care has helped many. For example:
This person’s genome was analyzed and familial risks were identified, including early sudden death and vascular disease. Additionally, gene variants connected to thyroid disease were evident – a condition not linked to his family.
This young man struggled for months with fever and headache that evolved into hydrocephalus and epilepsy. A general diagnostic workup and brain biopsy provided no clues. NGS was used to examine DNA from cerebrospinal fluid and a pattern appeared showing possible Leptospira infection. Despite a negative result from a clinical test for this infection, a targeted antibiotic was administered, and the patient was restored to health. Later testing confirmed the infection did exist.
Tumors from these people were analyzed to help predict possible outcomes of targeted therapy for cancer. Mutations were found that indicated treatment with cetuximab would be associated with better outcomes.
Many researchers are using the power of next-generation sequencing to remove the mystery from diseases and find new cures. Its ability to highlight significant differences between individual people at the genetic level makes NGS an effective tool for the advancement of health via prevention and individualized treatment.
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