During the past couple of decades, the field of genetics/genomic has expanded exponentially. This was facilitated by the development of next-generation sequencing technology which allowed us to sequence many genes simultaneously, and even the whole human genome within a few weeks. This was unthinkable before 2000. Since the completion of Human Genome Project 2003, numerous novel projects have been established to learn about the role of genetic variants in many disorders. The term “Precision Medicine” is now a great “buzz” word for the future of medicine. However, medical education in clinical genetics has not quite caught up with these rapid advances.
Therefore, this program was created in the hopes that every healthcare provider would be able to integrate genetic testing in their own practice whenever appropriate. This initial program will focus mainly on monogenic disorders.
Having a definitive genetic diagnosis can facilitate the most appropriate management plans, and in addition, it may provide some solace to the patients and families who may be desperately seeking answers. However, it is important that the patients are able to make informed decisions in this process. One case is presented as an example of a genetic testing process.
Lastly, a few comments will be mentioned about polygenic disorders and polygenic risk scores which are becoming a very popular topic. However, it is important to recognize that these types of genetic testing are fundamentally different from the traditional monogenic testing, and it is important to understand this difference so that the patients are guided accordingly.