Genomics technologies are revolutionizing our understanding of diseases and the capabilities of medicine.
Genomic sequencing allows for the detection of mutations or specific disease-causing genes, while genomic mapping provides insights into the functions of specific portions of genes involved in disease.
These technologies have flooded every aspect of biomedical research; Laboratories in academia, industry and clinics use genetic techniques for routine laboratory work and medical diagnosis.
Over the next several decades, genomics will shape the natural approach of medicine even as it may be unknown to the current researchers.
While genomics has heralded many medical and scientific advances, the human genome is more complex than we previously thought.
Although the Human Genome Project has produced the first sequencing of the human genome, we are still learning the function of each gene and how genes relate to each other.
Advances in genomics, such as genomic mapping, RNA discovery, and single-cell sequencing, have given rise to pharmacogenomics, which combines pharmacology and genomics to study the role of a person’s genome in their response to drugs.
Genomics Improves Our Understanding of Diseases
Future development in pharmacogenomics promise to revolutionize outcomes for patients and improve our understanding of the disease.
Improved genomic sequencing technologies, especially long-read sequencing, have improved our understanding of disease-causing mutations, provide targets for therapy, and improve drug design.
Long-read sequencing is a much more useful sequencing technique than traditional short-read sequencing; A long read sequence can cover up to 10,000 base pairs of DNA, while a short-read sequencing can only cover 300 base pairs of DNA.
Sequencing longer sections of DNA reduces mapping errors, captures regions that short-read sequences cannot accurately read such as repetitive regions, and improves detection of variation in large portions of DNA.
In addition to improving our understanding of disease genetics, long-read sequencing has been used to understand the biology of pathogens; Companies such as Pacific Biosciences and Nanopore used long-read sequencing during the Ebola, Zika and SARS-CoV-2 epidemics.
In the current pandemic situation, the long-read sequencing has shed light on the evolution, severity, and outcome of the SARS-CoV-2 virus, as well as providing critical information for the development of diagnostic tests and vaccines.
As long-read sequencing technologies improve, patient diagnosis and drug development will become more efficient and less costly.
Moreover, if we face another global pandemic, the long-read sequencing will play a critical role in the race to develop a vaccine and diagnostic tests faster and with more efficiency.
The Role of Genomics in Healthcare and Therapeutic Efficacy
Genomics will not only improve our understanding of disease-causing genes but also improve patient care and therapeutic efficacy.
Researchers have already begun stratifying clinical trials based on genomic mapping data that predicts a patient’s response to a particular drug.
Targeted clinical trials will ensure that we only test drugs on patients who are likely to benefit from the drug, reducing the risk of wasting time for critically ill patients hoping to benefit from experimental drugs.
Companies such as Genuity Science aim to use genomic data to improve clinical trial outcomes by combining genomic technologies with high-level data analysis.
Genuity Science analyzes genomic data from thousands of patients to identify genetic variations and discover genes that cause disease.
In addition to identifying targets, Genuity Science arranges clinical trial samples to identify relevant biomarkers to help researchers select the optimal patient population for their clinical trials.
Genuity Science also collaborates with researchers working to improve treatment options for hard-to-treat diseases, such as heart failure and multiple sclerosis, and has identified dozens of targeted drugs for a wide range of diseases.
Such new approaches to pharmacogenomics will revolutionize drug development and give hope to the millions of people living with difficult-to-treat diseases.
Genomics Provides Information About Our Ancestors
The advent of genomics also allowed ordinary people to own their own genome data; DNA testing companies like Ancestry, 23andMe, MyHeritage and many more provide the average person with insight into their DNA and ancestry.
DNA testing companies helped people learn about their ancestors, their families, whether they were carriers of a genetic disease or not, and even pharmacogenomics data.
There are also new companies that are more specialized in DNA testing, such as Myriad Genetics, which are providing patients with more targeted sequencing services aimed at detecting disease susceptibility, so patients can take control of their medical care.
Data from DNA testing companies could be used in the future to identify new genetic variations, and in pharmacogenomics studies to discover genotypes underlying patient responses to drugs.
Pharmacogenomics is revolutionizing the fields of medical and biological research. Techniques that were once expensive and time-consuming became commonplace, even routine.
Continuous technological improvements and access to genetic technology will continue to improve patient outcomes and therapeutic efficacy.