Overview

A Lead Clinical Genomics Scientist monitors and evaluates both internal and external data sources relevant to the classification of genetic variants and contributes significantly to the classification of these variants as benign or pathogenic.

Responsibility

1. Support the classification of new variants within established guidelines, by examining laboratory and patient data, and evaluating scientific literature to provide evidence for each variant’s role in disease and/or treatment.

2. Support the reclassification of variants.

3. Prepare and present both external and internal data to classify variants.

4. Work with all departments to ensure the highest quality clinical test results with unparalleled accuracy for all patient samples in a timely manner including the identification and resolution of issues.

5. Participate in clinical genomics projects to implement, validate, and test new processes for variant classification.

6. Responsible for one or more activities related to the classification of variants such as pipeline improvements, classification procedure, autoclassification, or a project involving multiple teams across the enterprise.

7. Maintain familiarity with the field’s concepts, practices, and procedures.

8. Maintain continuing education credits as required by CLIA.

9. Rely on instructions and pre-established guidelines to perform the functions of the job.

10. Perform specific duties assigned based on the scientist’s interests and expertise.

11. Conduct other duties delegated or defined by the CLIA lab director.

12. Occasionally work a variable schedule, including early mornings, evenings, weekends, and/or holidays.

Qualifications

1. Education and experience requirements:

   1. PhD or master’s degree related to biological sciences and/or genetic counseling.

   2. Six or more years of relevant experience.

2. Professional and detail oriented.

3. Proficient with Windows, Word, and Excel.

4. Excellent communication and teamwork skills.

Physical Requirements

Lifting Requirements – light work or exerting up to 20 pounds of force frequently. Physical Requirements – stationary positioning, moving, operating, ascending/descending, communicating, observing, pushing, or pulling, and reaching. Use of equipment and tools necessary to perform essential job functions.

EEO

We recognize that our people are our strength and the diverse talents they bring to our global workforce are directly linked to our success. We are an equal opportunity employer and place a high value on diversity and inclusion at our company. In hiring and all other employment decisions, we prohibit discrimination and harassment on the basis of any protected characteristic, including race, religion, color, national origin, gender, sexual orientation, gender identity, gender expression, age, marital or veteran status, pregnancy or disability, or any other basis protected under applicable law. In accordance with applicable law, we make reasonable accommodations for applicants’ and employees’ religious practices and beliefs, as well as any mental health or physical disability needs.