Clinical Genomic Scientist

The Jackson Laboratory
Job Location
The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive
Farmington, CT 06032
Job Description

The Clinical Genomic Scientist will play key roles in clinical operations and clinical product development at The Jackson Laboratory for Genomic Medicine. The role will support production by performing essential data analysis, variant interpretation and reporting functions. The Clinical Genomic Scientist is also responsible for significant contributions and timely completion of product development milestones established by the CLD and management. Both development and production will require the Clinical Genomic Scientist to have deep working knowledge across biotechnology, genetic pathology, computational sciences and clinical laboratory operations.

This position is for an individual who understands the different components of a genetic test and has the experience/exposure in clinical genetic testing environment.

Key Responsibilities:

 This role is responsible for the efficient and quality execution of writing interpretative variant-, gene-, clinical- and patient-level language for genetic test reports. This includes analysis and critical evaluation of clinical sequencing data and available scientific evidence in accordance with standard operating procedures.

  • Interpret germline, somatic and cfDNA sequence variants from patient samples within the context of inherited and acquired conditions to determine their clinical significance.
  • Evaluate variant function, potential clinical impact and genotype-phenotype relationships for neurological and oncological disorders using scientific literature and available genomic tools.
  • Write clear, communicable reports based on test results.
  • Perform quality control of variant and clinical analysis, interpretations and completed reports.
  • Troubleshoot dynamic and spontaneous issues related to job function.

 This role is also responsible for research and development of new clinical dry lab protocols, workflows and analytical/reporting software.

  • Engage in interdepartmental collaboration with the CG sequencing Laboratory, Computational Sciences and Research IT to accomplish research and product development objectives.
  • Work with CLD to develop process workflows, training curricula, educational material and scientific publications.
  • Additional clinical and translational development responsibilities as determined by CLD.
  • Minimum combination of education and years of DIRECT experience:
    • MSc and 2-3 years’ direct experience.
    • Genetic Counselor and 1 years’ industry experience.
    • PhD, MD, MBBS and 0-1 years’ direct experience.
  • Demonstrate strong ability to understand, interpret and communicate information from scientific publications.
  • Cross-disciplinary experience with strong working knowledge of genetic pathology, databases, software/bioinformatics tools, biostatistics, biotechnology, clinical and translational sciences.
  • Demonstrated knowledge of targeted therapies, next-generation sequencing technology, genomics, molecular diagnostics, pharmacology, and cancer biology.
  • Expert-level working knowledge of major public genomic and disease related databases (ExAC, ClinVar, COSMIC, etc).
  • Expert-level knowledge and experience in analysis of data from a variety of sequencing technologies (NGS, Sanger, MLPA, aCGH, ddPCR, qPCR, etc).
  • Direct experience is defined as prior work analyzing and communicating genetic findings in a CLIA, CAP, and/or NYSDH regulated laboratory. Additional time spent gaining related/transferrable experience will be considered on case-by-case basis.
  • Experience with bioinformatics (NGS, WES, WGS and/or CNV analysis) and/or extensive research experience within a specific clinical discipline(s) is preferred.
  • Strong attention to detail, multi-tasking, and organizational skills are required.
  • Ability to function as part of a matrixed organization and work as a team player required.
How to Apply

Apply online:

About Our Organization

The Jackson Laboratory ( is a nonprofit biomedical research institute with over 1,800 employees across three campuses nationwide. Our mission is to discover precise genomic solutions for human disease, and to empower the global biomedical community in the shared quest to improve human health.  JAX's research institute in Connecticut, The Jackson Laboratory for Genomic Medicine (JAX-GM), is transforming medicine by improving patient care, lowering costs, and increasing life span and health span. JAX-GM’s research focuses on the complex genetic causes of disease, and on the development of genomic solutions tailored to each person's unique genetic makeup.

JAX-GM sits on a 17-acre site on the campus of the University of Connecticut Health Center. The 183,500-square-foot facility opened in the fall of 2014. Now, it houses over 300 biomedical researchers, technicians and support staff in state-of-the-art computing facilities and laboratories. Our employees work in a collaborative, value-driven, and team-based environment where the focus is on advancing science and improving patients’ lives.

JAX-GM resides in the scenic town of Farmington, in the state’s capitol region. The Hartford region, which offers some of the best public schools in the country, is made up of both bigger cities and smaller, charming historic New England towns.  JAX-GM is also geographically located within 2 hours of Boston and New York and is close to multiple transportation systems including bus lines, highways, railroads and international airports.

Our Values:

INTEGRITY - Courage and commitment to do what is right

PEOPLE - Inspiring our people to enhance the health of all

ONE TEAM - Unified by our promise to transform medicine and science

EXCELLENCE - Achieving world-class results

INNOVATION - Leading with discovery and creative solutions

STEWARDSHIP - Caring for and enhancing the resources entrusted to us

What do we have to offer?

JAX offers a dynamic and supportive work environment, competitive salaries and a comprehensive benefits package including a medical plan, outstanding retirement plan, generous paid time off and tuition reimbursement.  JAX offers an MBA program, a fitness center with an award winning wellness program, and a fully operational primary care facility available to employees and their families.

Most importantly, every position contributes to JAX’s mission of discovering precise genomic solutions for human disease and empowering the global biomedical community in our shared quest to improve human health.

The Jackson Laboratory provides equal employment opportunities to all employees and applicants for employment in all job classifications without regard to race, color, religion, age, mental disability, physical disability, medical condition, gender, sexual orientation, genetic information, ancestry, marital status, national origin, veteran status, and other classifications protected by applicable state and local non-discrimination laws.

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