Genetic Variant Scientists & Medical Genetics Overview

By
Yavuz Sahin

Fellow presentation and intro to your career path

My name is Yavuz Sahin and I am originally from Turkey. I have wanted to be a doctor since I was a child, but in medical school, the thought of being a scientist and discovering something useful to humanity led me to the field of genetics. That’s why I made my residency in medical genetics at Hacettepe University School of Medicine at Ankara and earned the title of specialist in Medical Genetics in 2015. I worked as a Medical Geneticist Physician at State Hospital. I established the first medical genetics laboratory in the city, and my research on neurodegenerative disorders was published in very reputable journals.  

Throughout my more than eleven years in the medical genetics field, I have conducted many groundbreaking research projects that tackle problems with medical genetic care. These research projects are primarily centered around rare disorders, cancer genetics, and neurogenetic disease-related medical care.  

I work on whole exome sequencing, large panels, and cancer genetics as a genetic variant scientist. These genetic tests are super important for patient-critical decisions which relate to a physician’s ability to provide proper diagnosis. That’s why variant scientists guide physicians in drug choices to treat cancer patients.

Medical Genetics career options  

Please bear in mind that the list below is not at all exhaustive, but rather an overview of the materials engineering field.  

  • Scientist 
    As a variant geneticist you are responsible for analyzing genetic huge data to identify variants in genes which will improve neurogenetics and oncology patient’ care, manage the diseases.
  • Laboratory Director 
    As a laboratory director you are responsible for directing the overall function of the genetic laboratory department, including direct supervision of employees, sign out of somatic and germline molecular genetics test and results, and leadership in research & development. 
  • Genetic Counselor 
    As a genetic counselor  you provide general genetic counseling, and/or pre-and post-testing support for genetic testing. You collect appropriate clinical and family information necessary for risk assessment, identifying appropriate testing, interpretation and follow-up of test results.
  • Clinical Laboratory Technologist - Molecular Genetics
    As a Molecular Genetics you  will conduct molecular genetics and genomics research on insects and the plant pathogens they transmit. Major duties include setting up insect bioassays, sampling insects, extracting genetic material and preparing samples for transcriptomic sequencing. From this, the incumbent will be responsible for analyzing and interpreting transcriptomic and genomic datasets. Finally, the incumbent will be involved with developing RNA interference effector materials and conducting experimental insect bioassays with these materials.
  • Faculty Position 
    As an Faculty Position, you will be proficient in the following areas: teaching, relevant content expertise, research techniques, instructional design, delivery and assessment, course management, public speaking, effective communication, conflict management, working independently and as part of a team, organizational skills.

Main hard skills you use on daily basis in your current job

Using ACMG criteria to interpret genetic variants to make diagnosis. You can read and learn all criteria from the publication (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4544753/). This is the main guideline for analyzing patients' data.

Using online genetic databases for evaluating genetic alterations. Almost every day a new tool or database is launched. You can follow some journals (The AJHG, Bioinformatics, Nature Genetics) to be updated.    

Deeply knowing that clinical symptoms of patients related to which genes. Please use OMIM, human phenotype ontology and genecards web sites.  

Soft skills you use on daily basis in your current job

Being an expert in microsoft programs such as power point, excel and word.

Drawing alghoritms for variant intepretations.

Routine practice, you will follow the SOPs of the company.

Your personal path 

Share about your experience looking for jobs: how many applications have you done till you got one? How did you feel in those days? How did opportunities show up for you? Then, please share more about your interview experience and application process for your most recent job. This section is for students to udnerstand that no one lands a dream job at once (or maybe yes?) and that ending up in a job that you like really takes time.

What would you tell your younger you regarding building your current career?

Since genetics is a rapidly developing field of health, I talked about the latest guidlines and developments in my interview. You can follow those on twitter or instagram. At the same time, the examples I gave on how genetic information could be used in medicine were impressive. It will be beneficial for you to know how to use gnomAD, ClinVar, HGMD, ClinGen and in silico tools such as REVEL, Mutation Taster, SIFT, PolyPhen-2, Franklin, Varsome.  

Most important thing is to know ACMG variant classification in expert level. For watch these videos.

Final tips and insights

During my job search, I have learned that applying to multiple jobs can increase the chances of landing a job offer, but networking and leveraging personal connections can also be very effective in finding job opportunities. I reached out to people in my network. I talked to friends, family members, former colleagues, and others who work in my field. If you mention about current update guidelines at your interview, your chance will increase.   

  1. Make your application easy to read 
    Often, your application will only be given a quick once-over before it is put forward or tossed away. Therefore, it is important to make it easy to scan-read. The more information you can get across during that glance, the better. Use short sentences and short paragraphs. Use the words the reader is scanning for – the ones in the job specification. Try to avoid sounding long-winded. Nobody is looking to judge your literary talent. Remember, it is not ‘dumbing down’. It is being respectful of someone else’s busy schedule. 
  2. Tailor your cover letter to the job 
    Environments like job fairs require you to repeatedly give the same documents to multiple companies. However, if you are applying for a specific job in person or online, you will want to tailor your cover letter and resume to suit the application. Before writing or editing your cover letter, look through the job description and pay attention to the kind of employee they are looking for. The job description has information that includes the required educational background, what type of personality fits the position, and the skill set they would prefer a candidate to possess. 


Draw on the information in the job description and write a cover letter that frames you as the perfect candidate. Keep your sentences concise but impactful. Include as much relevant information as you can efficiently fit into a page’s worth of paragraphs. If the employer likes what they read, they will use the interview process to learn more about the goals or skills you mentioned in your cover letter. 

  1. Tips for job interview 
    Before the interview, take the time to research the company and the position you are applying for. This will help you understand the company culture and what they are looking for in a candidate. During the interview, make eye contact, sit up straight, and exude a confident and positive attitude. This will make a good impression on the interviewer and demonstrate your interest in the position. Prepare a few thoughtful questions to ask the interviewer at the end of the interview. This shows that you are engaged and interested in the position, and it also gives you an opportunity to learn more about the company and the role.   

In conclusion, state you want to work as long as possible and be eager to learn new developments in genetic area, forwhy medical genetics is super new field.

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