Translational Biomedicine

IntroductionThe author discusses the positives and the potentialpitfallsfacing primary care physicians and specialists as theyincorporate medical genetics into their practices and points outsome of the anticipated changes medical genetics willnecessitate, such as an increased medical genetics workforce,including geneticists and genetic counselors. Genetic medicine isthe integration and application of genomic technologies allowsbiomedical researchers and clinicians to collect data from largestudy population and to understand disease and genetic basesof drug response. It includes genome structure, functionalgenomics, epigenomics, genome scale population genomics,systems analysis, pharmacogenomics and proteomics. The Division of Genetic Medicine provides an academic environmentenabling researchers to explore new relationships betweendisease susceptibility and human genetics.

Uses of genetics in medicine

Prenatal screening tests are the most widely offeredgenetictests across North America, whereby fragments of placentalDNA fragments drawn from maternal blood are sequenced forgeneticabnormalities. In recent years, cancer therapy hasfocused on using tumor-specificantigens elucidated bysequencing as the targets of biologic therapies. For example,ado-trastuzumab is a monoclonal chemotherapy combinationdrug that has reduced the 3-year disease-free remission rate ofHER2-positive breast cancer by 11.3% from the prior standard oftreatment. It is exciting to hypothesize how the expanding roleof genomics in medicine will impact our understanding andclassification of disease. Perhaps purely clinical diagnoses suchas trigeminal neuralgia, major depressive disorder, or atopicdermatitis will reform in light of underlying genetic origins.Ultimately, this will better classify our understanding of illnessesand improve treatment strategies and research. The ethics ofstoring identifiablegeneticinformation, the rights of patients toknowledge of such data, and the potentialeffects onstakeholders at all levels of health care are additional complexissues. However, given the current funding status andinternationalattention garnered by precision medicine andgenomics, it will certainly have its place in the future ofmedicine. Cancer treatment is also set to benefit from genomicinformation to predict how an individual will respond to drugs(known as pharmacogenomics) and inform prescription of theappropriate drug or dosage. Pharmacogenomic applicationsextend into many areas of clinical practice; for example, in theprescribing of drugs such as antidepressants, analgesics andanticoagulants.

Applications of genomic information have led to: An increased knowledge of diseases like cancer and heartdisease.An increased knowledge of rare diseases like cysticfibrosisand Huntington’s disease.Advancements in genetictesting technologies like DNAsequencing.Advancements in new drug therapies that are targeted ortailored to an individual’s geneticinformation.

Conclusion

Genomic sequencing technologies have drastically improvedover the years which has driven down the cost of genetictesting, making it more accessible to individuals. Because of this,many laboratories have started to offergenetictesting for‘healthy’ individuals that want to know whether or not theyhave may have a risk of developing a genetic disease that thefamily history is not providing evidence of. As discussed above, this type of testing can be performed to assess whethersomeone has a high hereditary risk of developing cancer orheart disease.