What is genomic medicine?
Genomics is the study of an organism's entire genetic code, or DNA sequence, and how the genes comprising this DNA interact with each other and with the environment to make that organism what it is. The human genome was first sequenced with the completion of the Human Genome Project in 2003, but to this day, the functions of many parts of the genome are not fully understood. Scientists are still working to improve our understanding of how each person's unique genetic code affects their traits, health, and life.
As genome sequencing technology improves, so does our understanding of the genome. The first human genome sequenced by the Human Genome Project cost $2.7 billion. The combination of improved sequencing availability and a growing understanding of how genetic variation affects our traits has led to the emergence of the field of genomic medicine: the application of an individual's genomic information to help make personalized decisions about their medical care.
Because the availability of whole genome sequencing has been somewhat limited until recently, and it takes a long time to translate the latest research into clinical practice, genomic medicine is still in its infancy. However, even today, it contributes significantly to improved treatment outcomes, and this impact will increase exponentially in the coming years as our ability to understand and analyze the genome continues to improve.
How Genomics Is Changing the Practice of Medicine Today
While genomic medicine is still in its early stages, it has already had profound positive impacts on clinical diagnosis, treatments, and decision-making tools in many medical specialties.
For some time now, we have been able to use genetic testing to diagnose simple genetic diseases such as cystic fibrosis, sickle cell anemia, or Tay-Sachs disease. However, recent advances in genomic medicine have given us the ability to use genetic data to gain insight into an individual's risk of developing conditions with more complex genetic components. A well-known example is that individuals with certain mutations in the tumor suppressor BRCA1 and/or BRCA2 genes are more likely to develop breast cancer than individuals without these mutations. Individuals who have undergone high-coverage whole genome sequencing can determine whether they have a mutation in these genes. If they do, they can take steps to reduce their risk of breast cancer, such as taking certain preventive hormone medications or having regular breast exams.
The Future of Genomic Medicine
Despite being a relatively new field, genomic medicine has already brought about significant changes in many aspects of healthcare. However, as our ability to understand and analyze the genome improves over time, the impact of medical genomics will increase dramatically.
The cost of whole genome sequencing has dropped dramatically and will continue to do so in the future until it becomes readily available at an affordable price. As other issues preventing people from being sequenced, such as privacy concerns, are also addressed, there will be a significant increase in the number of people being sequenced and an explosion of genomic data available for use in research. Using this data, researchers will be able to improve our understanding of the human genome more rapidly, greatly expanding the capabilities of genomic medicine.