What is your experience as a clinical geneticist?

A clinical geneticist is an M.D. or Ph.D. who specializes in genetics and can sort things out from an array of literature. I am glad to have experience working with a fantastic team and taking on the role of a clinical geneticist. This job is absolutely rewarding and brings a whole new world to me.

Two years ago while I was still working in a software company, one colleague and friend of mine tentatively inquired if I was interested in interpreting genetic analysis results for patients. Since both of us had a background in bioinformatics and had known each other for a while, I accepted his offer without a second thought. I was thrilled to undertake this task because I had always been dreaming of becoming a clinical geneticist since college and all of a sudden this came true.

Right after we came to a deal on how to compensate for my contribution, intensive training courses followed. I was guided by a senior M.D. who had been in my position for a year and would like to share some of the workloads with me. I pored over key literature and guidelines proposed by ACMG. One variant can be annotated as ‘pathogenic', ‘likely pathogenic', ‘uncertain significance', ‘likely benign', or ‘benign'. According to the inheritance pattern, I determined if a subject is affected by a variant. Also, I had to refer to literature and database to support my arguments. For each subject, there were about twenty to thirty variants in the ACMG 59 genes. The most difficult part of this job is interpreting variants with conflicting annotations. In such cases, I sorted clinical studies based on the level of evidence and gave a final recommendation to the subject discreetly.

This job also required a lot of communication. In cases of missing data, baffling results, or pathogenic variants requiring early intervention, I had to communicate with the data analyst and the lab technician For instance, some variants repeatedly appeared in all subjects, which turned out to be results contaminated with pseudogenes during sequencing. After compiling my interpretation of a subject's results, I entered it into a reporting system so that a formal report could be generated and signed by the supervising senior M.D. Afterward, this final report could be handed over or sent to the client. Since I am not certified by the Board of Medical Genetics, communicating with the client was beyond the scope of my responsibility.

To sum up, I learned to appreciate literature regarding genetics and how to communicate with people from diverse backgrounds. In the future, I wish to acquire a certificate in medical genetics that allows me to independently explain my interpretation to patients or clients.

**Highlight **(2020/1/1-2022/07/31): As a clinical geneticist, I was responsible for delivering information regarding hereditary diseases to patients. During the two-year period, I have been in charge of tens of cases. For each case, based on literature and database, I interpreted twenty to thirty genetic variants as either ‘pathogenic', ‘likely pathogenic', ‘uncertain significance', ‘likely benign', or ‘benign'. Moreover, in cases of missing data, baffling results, or pathogenic variants requiring early intervention, I communicated with the data analyst and the lab technician to confirm the results by repeating data analysis or Sanger sequencing. Through this experience, I not only gained the necessary clinical knowledge to counsel patients on hereditary diseases but also honed the communication skills that allowed me to integrate viewpoints from various experts in clinical genetics.