Precision medicine (also called personalized medicine), is an approach to understanding how an individual’s lifestyle, environment, and genetics can be utilized to determine the best course of treatment and prevention.
Precision medicine is very distinct from traditional disease treatment methods. Traditional disease management methods use a “one size fits all” approach, which has limited ability to consider the unique differences that exist between individual patients.
In modern clinical settings, precision medicine applications are anticipated to continue to influence how research and medicine are conducted well into the future. Precision medicine has been uniquely successful in treating various diseases (especially cancer) by targeting various aspects of DNA.
In fact, researchers have developed multiple therapies which have successfully improved the treatment of several types of cancer by targeting molecular alterations. One such treatment that uses tyrosine kinase inhibitors has effectively changed the diagnosis and treatment for EGFR-mutated lung cancers, Bcr-Abl chronic myelogenous leukemia, and BRAF-mutated melanoma.
Genomics and genomic research are the cornerstones of precision medicine. The importance of the individual human genome has driven researchers, physicians, and even entire nations to accelerate the use of next-generation sequencing to advance our global health and broaden our collective knowledge.
But what is the role of genomics in precision medicine, and how will it impact healthcare moving forward?
Current uses of genetics in medicine
Genetics helps improve public health, prevention, diagnosis, and even informing reproductive decisions. More specifically, genetics can be used to support the following applications:
- Assessing an individual’s risk for developing a particular disease
- Testing patients to inform them of cancer treatment and prevention
- Determining the level of risk of passing a genetic disorder to offspring
- Early diagnosis of genetic disorders present in fetuses, newborns, and children
- Diagnostic testing to prescribe drugs or treatments
Common Clinical Uses
One of the most common uses of genetics in modern medicine is screening unborn children for genetic abnormalities while still in the womb. Prenatal screening tests are one of the most widely used genetic tests in the US. Prenatal tests use fragments of placental DNA drawn from maternal blood to sequence and screen for genetic abnormalities, which informs treatment for both mother and unborn child.
Another area of medicine that is being propelled by genetic advancements is the field of cancer research. Cancer therapy has recently evolved to include tumor-specific antigens, which are produced by sequencing the genomes of individual patients. This individualized approach has been very effective in the traditionally “one-size fits all” approach to treating deadly cancers.
One shining example of this successful biologic therapy can be seen through the use of “ado-trastuzumab.” This breakthrough combination chemotherapy drug is created by formulating proteins that mimic the body’s natural ability to ward off harmful pathogens. It has favorably reduced the 3-year disease-free remission rate of “HER2-positive” breast cancer by an astonishing 11.3% compared to the standard treatment.
Additionally, one cannot speak of the contributions of genetics in modern medicine without mentioning the genomic sequencing of insulin and factors VII and IX. These sequences laid the foundation for the pharmacologic treatment of diabetes and hemophilia, respectively.
In 2006, the FDA made genetic history by approving the first-ever cancer vaccine for humans. This vaccine (Gardasil) was developed to prevent cervical cancer by blocking the human papillomavirus infection (HPV). This groundbreaking vaccine led to a decrease in incidences of cervical cancer across the board.
However, many cancer vaccines have been stalled under preclinical and clinical trials. The need for non-viral vaccines, including those for cancer, required more vaccine-related research studies to create a novel vaccine development platform.
That is, of course, until the unfortunate case of the Sars-Cov19 pandemic created an immediate need and pushed genetic vaccine research forward a decade in a matter of a year. In a relatively short time, research that was decades in the making saw immediate application with the various mRNA covid vaccines that were pushed to relieve the global crisis. mRNA Vaccines
mRNA vaccines are a relatively new technology that has been developed in combination with immunology and molecular biology. The technology used in mRNA vaccines is quite similar to gene therapy.
The mRNAs encoding antigens are introduced to the body’s somatic cells to synthesize antigens that are not usually produced by the expression system. These newly created antigens are what triggers the immune response within the body.
The study of mRNA vaccines dates back to 1990 when researchers began experimenting with mRNA expression vectors in mice. In 1992, researcher Gustav Jirikowski and his team concluded that introducing specific mRNAs in mice could temporarily reverse diabetes just hours after injecting them.
Since that early groundbreaking research, mRNA vaccines have increased stability and have gained an effective mRNA delivery system. With the valuable insights gained through the Sars-CoV 19 vaccine, the future applications for genetic vaccines look brighter than ever. As mRNA vaccine technology continues to mature, we can expect it to revolutionize future vaccine treatments for infectious diseases and even cancer.
Pharmacogenomics is the emerging practice of optimizing drug response in relation to an individual’s genetics and has found its place as a cornerstone of modern genetic medicine. Pharmacogenomics is used to eliminate drugs that would be ineffective and pinpoint to most effective treatments based on a patient’s genome.
Let’s look at the example of Ivacaftor, a drug used to treat cystic fibrosis. Ivacaftor is the most effective drug on the market; however, it is only effective on 4-5% of the population who have a specific genetic mutation. By examining patients on the genomic level, doctors can prescribe the most effective treatments and eliminate unnecessary trial and error.
Under the current healthcare system, the US only performs genetic testing on patients under specific circumstances. Otherwise, patients who wish to have their genome mapped must seek out private biotechnology companies to profile particular genes of interest. Whole-genome mapping is expensive, and most biotech companies report on specific genes.
Now more than ever, there is a need for accurate and affordable genome mapping. Companies such as Genealogy are poised to fill in the gaps of a broken healthcare market by focusing on whole genome and HLA genotyping that is not only cost-effective but highly accurate, up to 98.58%. These results are possible by utilizing AI and deep learning algorithms to impute the whole genome from SNP array data.
As AI technology becomes more prominent, we can expect pharmacogenomics to take a front seat in precision healthcare.
Genomic analysis presents new opportunities for the development of treatment, the provision of medical care, and new methods of managing the population’s health.
The scientific and medical communities worldwide have only just begun to seize the revolutionary opportunities that precision healthcare and genomic medicine offer.
With increased investment in the infrastructure required to obtain and share clinical and genomic data, the U.S. and companies such as Genealogy are poised to become the prominent leaders in the implementation of genomic medicine. More affordable and accurate genetic testing will propel genomics to the forefront of medicine and help to fill in the cracks of an overwhelmed healthcare industry.
If you would like to read more about how Genealogy Care handles DNA tests, see this post here.