What is Precision Medicine?
Precision medicine harnesses a unique mix of personal genetic, genomic and clinical information to inform patients’ medical care, for both treatment and prevention of diseases. This information includes individual genomic DNA sequences, which can potentially identify variants that cause disease, and in some cases predict how a patient will respond to a particular drug. Genomic analysis of tumor cells can identify the nature of the cancer, and in a growing number of cases identify the cause of and suggest the most effective treatment. These exciting new technologies will complement traditional physician patient relationships and improve diagnosis and treatment.
The rapid pace of discovery in genetics and genomics over the last decade, together with the reduced cost of genomic sequencing, has driven interest and excitement in the application of precision medicine in the clinic. There are clear examples of the successful application of precision medicine, but advances on many different fronts will be required to realize its full potential, ranging from basic science to drug discovery to resolving health care inequities. It is for this reason that President Lee Bollinger has established a University-wide initiative, harnessing the full breadth of scholarship at Columbia to build the infrastructure and intellectual framework necessary to realize the vision of precision medicine.
The Precision Medicine Network
Success will require an effective integration and synergy between all of the stakeholders in precision medicine, which includes patients, diagnostic labs, computational scientists and engineers, among many others. Ultimately, this network will form a positive feedback system in which continuous learning will be used in real time to improve patient care. The information and benefits are cumulative: iterative feedback between genetic information, treatment and health benefits will continue expand the impact of precision medicine.
Many patients are currently seeking genetic information as a basis of their medical care. Many are seeking to understand their genome themselves, by accessing the growing number of consumer services. As more patients participate in precision medicine research, more knowledge will be available to feed back into the system. One of the challenges of collecting the necessary large amount of information about patients is privacy and protecting patient identity. Understanding the risks and benefits of participating in precision medicine research is important, and consent processes are evolving to reflect this issue.
Clinicians are at the front line to assess whether genetic tests are appropriate for patients. Together with genetic counselors, they will interpret and explain the test results, as well as review choices the patient must consider as a consequence of the analysis of their genetic information.
Fundamentally, research is the foundation of the science of precision medicine. Through population genetics, as well as disease-based research, the development of innovative research tools, and more accurate and faster ways to interpret results, will directly influence clinical delivery. With new insight into disease pathways and further technological advances, researchers will be able to rapidly establish and screen disease models ranging from patient-derived stem cells to animal models to understand disease mechanisms, identify drug targets, and ultimately discover new therapeutic approaches.
Effective representation of all people
For the benefits of precision medicine to come to all, we must ensure that all populations are represented in population-based research of large cohorts, and that access is not limited by financial status.
Precision medicine toolbox
Precision medicine can provide insights into disease mechanisms through whole exome or whole genome DNA sequencing, as complemented by transcriptome (RNA) and proteome information. Whole exome sequencing captures only the protein-coding part of the genome. Representing less than 2% of the human genome, whole exome sequencing (WES) is a cost-effective alternative way of getting deep information. It is used for many applications, including investigating genetic disease, population genetics and cancer studies.
Whole genome sequencing detects the 3 billion bases of the human genome. Sequencing large cohorts is now a reality and whole genome sequencing (WGS) will allow deeper understanding of the regulatory and other features in our genomes and will enable meaningful interpretations of whole genomes. WGS is also and important research and discovery tool in studying agriculture and microbial genomes, which can advance discovery in biomedical sciences as well as in other fields.
Transcriptome sequencing allows a biological snapshot of expressed genes by capturing RNA and converting it to cDNA before sequencing. RNA sequencing can focus on mRNA, small RNA, noncoding RNA or microRNA by including different steps before cDNA synthesis.