Genomic medicine—an aspirational term 10 years ago—is gaining momentum across the entire clinical continuum from risk assessment in healthy individuals to genome-guided treatment in patients with complex diseases. The study of an organism’s entire genetic makeup (genome) and its interaction with environmental or non-genetic factors, including lifestyle is called Genomics. Genomic medicine is becoming an integral part of primary care for adults.
Advances in genomics have triggered a revolution in discovery-based research to understand even the most complex biological systems such as the brain. The field includes efforts to determine the entire DNA sequence of organisms and fine-scale genetic mapping.
Why Genomic Medicine and its understanding is a must these days
- Practitioners need to be able to respond to patients’ questions about the possibility of a genetic disease in the family.
- A survey conducted by the American Medical Association in March 1998 found that 71% of patients who questioned whether there was a genetic disease in their family would contact their primary care physician first.
- By increasing their awareness of the manifestations of common genetic diseases, practitioners can expand the differential diagnoses of some patients’ symptoms to include common genetic diseases.
- Whereas all diseases have both a genetic and an environmental component, in some, the genetic effect predominates, and these are commonly referred to as “genetic diseases.”
- Practitioners need to know how patients’ primary genetic diseases may affect their health, what secondary diseases they are likely to develop, and the unusual ways that common diseases may present in these patients.
- Children and adolescents with genetic disorders must transition to knowledgeable adult medicine primary care physicians who can provide comprehensive health supervision.
- Primary care physicians play a crucial role in the integration of genetics and genomic medicine into clinical practice, since there are currently few MD clinical geneticists and genetic counselors.
Future of Genomic Medicine
- In addition to the usual tools physicians use in health assessment, the tools of genomics and genomic medicine will allow for personalizing:
a. Screening protocols for heart disease, cancer and other chronic disorders;
b. Informed dietary and lifestyle choices;
c. Individualized presymptomatic medical therapies, e.g., antihypertensive agents before hypertension develops anti-schizophrenia agents before schizophrenia develops.
- Genomic tools such as eMERGE (Electronic Medical Records and Genomics) Network is a national consortium formed to develop, disseminate, and apply approaches to research that combine DNA bio repositories with electronic medical record (EMR) systems for large-scale, high-throughput genetic research. This is bound to change the way doctors treat their patients.
- Huge advancements are being made in the field of pharmacogenetic testing which has the potential to minimize side effects and decrease the frequency of adverse drug events by allowing for individualized rather than “one size fits all” prescribing. The number of medications for which pharmacogenetic testing is indicated is expected to grow at a rapid pace.
- Programs for “pre-emptive” genotyping are being developed whereby patients have extensive array based pharmacogenomic genotyping as part of their health supervision, the data being presented to the physician only when a related drug is being prescribed.
Clearly, genetics remains just one of several factors that contribute to people’s risk of developing most common diseases. Diet, lifestyle, and environmental exposures also come into play for many conditions, including many types of cancer. Still, a deeper understanding of genetics will shed light on more than just hereditary risks by revealing the basic components of cells and, ultimately, explaining how all the various elements work together to affect the human body in both health and disease.
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