This article is more than 5 years old. Information may no longer be current.
Genomic medicine may have great potential in clinical settings
Click Here to Manage Email Alerts
Genomic medicine can potentially be used to predict a patient’s risk for heart disease and the course it may follow, as well as to determine what medications would be best suited for them, according to an American Heart Association scientific advisory published in Circulation: Genomic and Precision Medicine.
“It’s a step toward what’s obviously getting a lot of attention now: precision medicine,” Kiran Musunuru, MD, PhD, MPH, FAHA, associate professor of cardiovascular medicine and genetics at the Perelman School of Medicine at the University of Pennsylvania and chair of the writing group, told Cardiology Today. “I think of genomic medicine as a subset of precision medicine.”
Genomic medicine research
Genomic medicine is an active research area, although it has yet to be implemented into clinical practice. Focused on different types of molecules found in the cells in the body — DNA, RNA, proteins and metabolites — the utilization of genomic medicine can potentially improve the ability to predict, prevent, diagnose and treat patients for CVD and stroke, according to the scientific advisory.
The cost of genome sequencing is currently decreasing to less than $1,000 per patient. Because the genome is fixed in nature, sequencing would only need to be conducted once in a patient’s lifetime.
“The trend will only continue, with genotyping becoming increasingly less expensive than phenotyping, to the point that it is not inconceivable that people who interact with a hospital or health care system might routinely undergo sequencing,” Musunuru and colleagues wrote.
Primary human tissues can be used to perform human-centered functional genomic studies. Some cell types with relevance to CVD and its traits include hepatocytes, cardiomyocytes and vascular endothelial and smooth muscle cells, although they may not be as accessible as other cell types like those seen in blood.
Some of these limitations can be overcome through human-induced pluripotent stem cells, according to the scientific statement. They harbor normal human genomes, can give rise to several cell types and can be expanded into billions of cells from one single cell. These cells can be used to perform unbiased genomic association studies, to undertake functional genomic studies to establish causal relationships and to study disease in a personalized fashion.
Data sharing has become important in genomic studies, especially because large sample sizes are needed to boost the yield of efforts by researchers. Most genomic studies have been performed within academic research frameworks, but there are several limitations: they are largely completed in well-funded academic medical centers rather than in community settings; only focus on select common diseases to enroll a sufficient number of patients; and are typically separate from the clinical enterprise. In addition, these studies are often resource-intensive and do not receive the funding needed to follow up their findings.
Clinical practice
To transition genomic medicine from research into clinical practice, a team-based approach will be necessary, in addition to addressing issues on patient privacy, confidentiality and education for everyone involved, according to the scientific advisory.
“It’s going to require interdisciplinary teams,” Musunuru said in an interview. “It’s going to require teamwork among scientists on the one side to learn what molecular signatures exist, what those signatures mean. It’s going to require investigation and research to understand those patterns and how they relate to disease. It’s also going to involve clinicians and providers, the people who are taking care of patients to actually take those signatures and then apply them to patient care. It’s going to require much closer teamwork than really has been the case in these efforts in the past.”
A focus on genomic medicine in clinical practice can improve the care of patients who are either at risk for CVD or have established CVD.
“What we’d like to be able to see happen is much more intense investigation of these molecules, look for these signatures, turn them into laboratory tests that can be deployed in patient care and then really be able to better individualize patient care so that everyone’s being treated according to what’s happening in their bodies rather than one treatment fits all,” Musunuru told Cardiology Today. – by Darlene Dobkowski
For more information:
Kiran Musunuru, MD, PhD, MPH, FAHA, can be reached at kiranmusunuru@gmail.com.
Disclosures: Musunuru reports no relevant financial disclosures. Please see the scientific statement for all other authors’ relevant financial disclosures.
Click Here to Manage Email Alerts