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Clinical Genomics Scientist or Genetic Counselor (Remote or Onsite) at Illumina, Inc.

Posted in General Business 17 days ago.

Type: Part-Time
Location: San Diego, California

Job Description:

In this role, the Clinical Genomics Scientist or Genetic Counselor will be primarily involved in supporting clinical reporting efforts related to the laboratory’s physician-ordered, clinical whole genome sequencing test. This position will integrate medical, professional and regulatory requirements of clinical sequencing, genetics expertise, and the Illumina sequencing platforms. Individuals will be required to combine their genetics and clinical expertise with regulatory standards and best practices to analyze genomes for varied clinical indications. Individuals will work as a member of a dynamic and collaborative team. This position will help build and guide the future development of clinical whole genome sequencing implementation, and offers excellent opportunity for professional growth and advancement. This is an opportunity to play a role in laying the foundation in genomic medicine with a company that is a leader in transforming next generation sequencing. 


Analysis of Clinical Whole Genome Sequencing Data:

  • Conduct all aspects of case analysis for the clinical whole genome sequencing test including medical notes review/phenotyping, variant analysis and triaging, gene and variant curation, synthesizing and contextualizing results with respect to the patient being tested, writing language to appear on the clinical report, reviewing and supporting case analysis performed by others on team.

  • Problem-solving and strategizing for assessment of analytical and clinical characteristics of genetic variants

  • Analysis of clinical literature and application to patient case

  • Support internal and external collaborations (e.g. engagement with ClinGen and ClinVar)

  • Support internal and external program development related to medical genetics and genetic counseling

  • Proficient in all aspects of clinical case analysis, with some guidance.

Projects and Engagement:

  • Initiation of, active participation in and significant contribution to projects of small to medium scale, influencing outcomes

  • Lead projects of small to medium scope, including ownership of deliverables with some guidance from team leaders. 

  • Develop strong technical expertise that expands beyond specific area of focus 

  • Demonstrates engagement across the team in achieving team's goals and activities


  • Understanding of clinical applications of genetic information

  • Strong understanding of genetics and genotype-phenotype relationships

  • Ability to analyze medical and scientific literature

  • Excellent analytical and critical thinking skills

  • Basic understanding of statistical analyses

  • Superior written and verbal communication skills

  • Highly motivated, accurate and detail oriented with the proven ability to think innovatively toward solving problems effectively and efficiently

  • Ability to manage multiple projects and deliver in a time-sensitive manner

  • Demonstrated experience in evaluating scientific papers, translation of genetic information and applying genetic analysis

  • Understanding of bioinformatics approaches to clinical genome analysis

  • Ability to work effectively under pressure to meet aggressive deadlines and handle multiple activities simultaneously

Requires an Advanced Degree in a Biological Sciences field or Masters Degree and Board Certification in Genetic Counseling and at least 1- 2 years related experience

*This requisition will be utilized to fill multiple openings on the team

At Illumina, we strive to foster a diverse and inclusive workplace by cultivating an environment in which everyone contributes to our mission. Built on a strong foundation, Illumina has always been rooted in openness, collaboration, and seeking alternative views and perspectives to propel innovation in genomics. We are proud to confirm a zero-net gap in pay, regardless of gender, ethnicity, or race. We also have several Employee Resource Groups (ERG) that deliver career development experiences, increase cultural awareness, and demonstrate our collective commitment to diversity and inclusion in the communities we live and work. We are proud to be an equal opportunity employer committed to providing employment opportunity regardless of sex, race, creed, color, gender, religion, marital status, domestic partner status, age, national origin or ancestry, physical or mental disability, medical condition, sexual orientation, pregnancy, military or veteran status, citizenship status, and genetic information. If you require accommodation to complete the application or interview process, please contact To learn more, visit: