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Join a team of brilliant, passionate innovators who wake up every day determined to transform healthcare. At BillionToOne, we've built something extraordinary—a culture where transparency fuels trust, collaboration drives breakthroughs, and every voice matters in our mission to make life-changing diagnostics accessible to all. We don't just aim for incremental improvements; we strive to build products that are 10x better than anything that exists today. Our people are our greatest asset: talented scientists, engineers, sales professionals, and visionaries united by an unwavering commitment to changing the standard of care in prenatal and cancer diagnostics. This is where cutting-edge science meets human compassion—every innovation you contribute helps remove fear of unknown from some of life's most critical medical moments. If you're driven by purpose, energized by innovation, and ready to help build the future of precision medicine, this is where you belong.
Job Responsibility:
Somatic variant interpretation and data review: Perform somatic-based variant interpretation, diving into the literature and databases to classify variants and match treatments for reporting, performing verification as required with BAM file analysis
Clinical report drafting: Carefully draft reports for each requisition primarily using in-house reporting API, working closely with the engineering and QA teams on reporting, and the laboratory directors on report language
Content curation: Contribute to curation of gene-level content such as domain and critical residue curation
Contribute to oncology R&D: Work closely with the R&D team to help with somatic oncology based projects, providing expertise on variant interpretation, biological pathways/mechanisms, and other gene/variant-level reviews and analyses.
Requirements:
Ph.D. in Human Genetics, M.S. in Genetic Counseling, or related field
2+ years of experience in somatic variant interpretation based on ACMG/AMP guidelines in a clinical setting (alternatively, 1+ years of germline variant interpretation and 1+ years of somatic variant interpretation experience)
Hands-on experience working with human mutation databases (COSMIC, ClinVar, OncoKB), functional annotation sources (dbSNP), and genome browsers (UCSC)
Familiarity with IGV and BAM file analysis and data-minded willingness to learn to use basic bioinformatics tools, with technically minded insights
Knowledge of cancer somatic mutation and signaling pathways (e.g., which mutations have FDA approved drugs, Phase II/III clinical trials, which mutations are considered “hot targets” for drug development, etc.)
Exceptional attention to detail to follow highly detailed SOPs and strong organizational skills to track and manage clinical reporting and product improvement projects
Excellent communication skills and ability to work collaboratively with cross-functional teams
Ability to work on Saturday and/or Sunday, in addition to hours during the week.
What we offer:
Working alongside brilliant, kind, passionate and dedicated colleagues, in an empowering environment, toward a global vision, striving for a future in which transformative molecular diagnostics can help millions of patients
The ability to indirectly or directly change the lives of hundreds of thousands patients