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Genetic Analyst

💰 $75,000 - $120,000

Science & ResearchHealthcareBiotechnology

🎯 Role Definition

At its core, the Genetic Analyst is a scientific detective, tasked with delving into the human genome to uncover the genetic basis of disease and inherited traits. This role is the critical bridge between raw sequencing data and actionable clinical insights. A Genetic Analyst meticulously examines complex genomic information generated from advanced technologies like Next-Generation Sequencing (NGS), interprets the significance of genetic variants, and synthesizes these findings into clear, comprehensive reports. These reports empower clinicians, genetic counselors, and patients to make informed decisions about diagnosis, treatment, and disease management. This position requires a unique blend of deep biological knowledge, sharp analytical skills, and an unwavering commitment to accuracy, playing a vital part in the advancement of personalized medicine.

📈 Career Progression

Typical Career Path

Entry Point From:

  • Recent Master's or Ph.D. Graduate (Genetics, Molecular Biology)
  • Clinical Laboratory Scientist / Medical Technologist with molecular experience
  • Research Assistant / Associate in a genetics or genomics lab

Advancement To:

  • Senior or Lead Genetic Analyst
  • Clinical Laboratory Director / Manager
  • Bioinformatics Scientist
  • Variant Curation Scientist Lead

Lateral Moves:

  • Genetic Counselor (with additional certification/degree)
  • Clinical Research Associate
  • Field Application Scientist (for a genomics technology company)

Core Responsibilities

Primary Functions

  • Perform comprehensive analysis and interpretation of complex genetic and genomic data generated from next-generation sequencing (NGS) and microarray technologies.
  • Classify the clinical significance of identified genetic variants (SNVs, indels, CNVs) according to established professional guidelines, such as those from ACMG/AMP.
  • Author clear, concise, and clinically relevant reports summarizing genetic findings for physicians, genetic counselors, and other healthcare professionals.
  • Meticulously review and verify automated variant calls using genomic visualization tools like the Integrative Genomics Viewer (IGV).
  • Maintain and curate internal databases of genetic variants, patient phenotypes, and their clinical classifications to improve future analyses.
  • Conduct thorough literature reviews and consult public and proprietary databases (e.g., ClinVar, gnomAD, HGMD) to gather evidence for variant interpretation.
  • Ensure all analytical work and documentation strictly adheres to laboratory SOPs and regulatory standards, including CAP, CLIA, and HIPAA.
  • Manage and process large-scale genomic datasets, performing quality control checks to assess the integrity and reliability of sequencing data.
  • Prepare and present complex genetic findings, challenging cases, and scientific literature at internal team meetings and case conferences.
  • Document all analytical steps, evidence, and interpretive rationale meticulously within the Laboratory Information Management System (LIMS).
  • Collaborate directly with laboratory technologists and wet-lab staff to troubleshoot and resolve issues related to sample quality or sequencing workflow.
  • Work closely with the bioinformatics team to provide feedback on, refine, and validate analytical pipelines and software tools.
  • Perform case-level review of family history and clinical information to provide context for genomic analysis and interpretation.
  • Take ownership of the entire analysis process for assigned cases, from raw data to final, signed-out report, ensuring timeliness and accuracy.
  • Evaluate the pathogenicity of genetic variants in the context of both Mendelian diseases and complex disorders like cancer.

Secondary Functions

  • Contribute to the development, optimization, and validation of new genetic testing assays and analytical procedures.
  • Participate in and successfully complete regular proficiency testing programs to ensure ongoing competency and quality of work.
  • Assist in the training and mentorship of junior analysts, laboratory technologists, and rotating fellows or students.
  • Contribute analytical expertise and data to research projects, scientific abstracts, and manuscripts for publication or presentation.
  • Stay current with the rapidly evolving field of human genetics and genomics by reviewing scientific literature and attending relevant conferences and webinars.
  • Provide expert consultation to internal and external stakeholders, including client services and healthcare providers, regarding test methodologies and results.
  • Support the creation and periodic review of Standard Operating Procedures (SOPs) for the data analysis and reporting workflow.
  • Evaluate new software, tools, and databases that could enhance the efficiency and accuracy of the variant interpretation process.

Required Skills & Competencies

Hard Skills (Technical)

  • Variant Interpretation & Classification: Deep expertise in applying ACMG/AMP guidelines to classify the pathogenicity of genetic variants.
  • NGS Data Analysis: Proficiency in analyzing data from Next-Generation Sequencing platforms (e.g., Illumina) for various applications (WES, WGS, gene panels).
  • Genomic Databases: Skilled in navigating and utilizing key genomic and variant databases such as ClinVar, gnomAD, dbSNP, and HGMD.
  • Bioinformatics Tools: Hands-on experience with standard bioinformatics tools and software (e.g., GATK, BWA, Samtools) and genome browsers (e.g., IGV, UCSC).
  • LIMS/LIS Experience: Familiarity with Laboratory Information Management Systems for tracking samples and documenting results.
  • Molecular Biology Principles: Strong foundational knowledge of human genetics, inheritance patterns, molecular biology, and DNA/RNA structure and function.
  • Scripting Languages (Preferred): Basic proficiency in a scripting language like Python or R for data manipulation and analysis is highly desirable.

Soft Skills

  • Exceptional Attention to Detail: An uncompromising eye for accuracy is critical, as small errors can have significant clinical consequences.
  • Analytical & Critical Thinking: The ability to logically dissect complex problems, evaluate multiple lines of evidence, and arrive at a well-reasoned conclusion.
  • Advanced Written Communication: Skill in translating highly complex scientific information into clear, precise, and easily understandable clinical reports.
  • Independent Problem-Solving: Resourcefulness and initiative to investigate and resolve analytical challenges with minimal supervision.
  • Time Management & Organization: Ability to manage a high-volume caseload, prioritize tasks effectively, and meet established turnaround times.
  • Collaborative Mindset: A strong team player who can work effectively with laboratory staff, bioinformaticians, and genetic counselors.

Education & Experience

Educational Background

Minimum Education:

A Master of Science (M.S.) degree from an accredited institution in a relevant scientific field.

Preferred Education:

A Doctor of Philosophy (Ph.D.) in a relevant field and/or board certification from the American Board of Medical Genetics and Genomics (ABMGG) or equivalent.

Relevant Fields of Study:

  • Genetics / Human Genetics
  • Molecular Biology
  • Genomics / Bioinformatics
  • Biochemistry

Experience Requirements

Typical Experience Range:

2-5+ years of direct, hands-on experience analyzing, interpreting, and reporting human genetic data in a CLIA/CAP-certified clinical diagnostic laboratory or a similar high-complexity research environment.

Preferred:

Demonstrated experience specifically focused on clinical variant interpretation and report writing for hereditary diseases (e.g., cardiology, neurology, rare disease) or somatic oncology. Experience with both germline and somatic variant analysis is a significant plus.

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