Senior Clinical Genomics Scientist

BillionToOne is a next-generation molecular diagnostics company dedicated to developing powerful and accurate diagnostic tests that are accessible to all. Our innovative QCT molecular counting technology significantly enhances the resolution of disease detection using cell-free DNA by over a thousandfold. This groundbreaking technology is integral to our product offerings, including one of our flagship products, Unity Complete™, the only non-invasive prenatal screen capable of assessing fetal risk for both common recessive conditions and aneuploidies from a single maternal blood sample. Leveraging the same molecular counting technology, we've expanded our impact into oncology in 2023 with a pioneering liquid biopsy test, Northstar, that combines treatment selection with monitoring. To date, over 500,000 patients have benefited from our innovative and precise diagnostic tests, and our Annual Recurring Revenue (ARR) has grown from $0 to $125 million in the last ~4 years.

BillionToOne has successfully raised close to $400 million in funding, with a notable $130 million Series D round completed in June 2024, resulting in a company valuation of over $1 billion. This funding has come from prestigious global institutional investors, including Hummingbird, Adams Street Partners, Neuberger Berman, Baillie Gifford, and Premji Invest. BillionToOne has recently been recognized by Forbes as one of America's Best Startup Employers for 2024, highlighting the company's exceptional work environment and commitment to innovation.

Our team has grown significantly and we now proudly employ over 400 highly skilled individuals. Despite substantial growth, we have successfully maintained the unique culture that has defined BillionToOne from inception, continuing to cultivate a team that is not only diverse and passionate but also innovative. Headquartered in Menlo Park, California, with an additional facility in Union City, California, BillionToOne remains at the forefront of significant advances in molecular diagnostics, evidenced by the recent announcement of clinical outcomes data for its Unity Fetal Risk Screen and new advancements in cancer diagnostics. For more detailed information about BillionToOne and its groundbreaking work, please visit our website at www.billiontoone.com.

We are looking for a Senior. Clinical Genomics Scientist to help lead germline variant interpretation for carrier screening. As a member of the prenatal clinical genomics team, you are responsible for helping with day-to-day commercial data management, including filtering and variant interpretation. Working closely with the bioinformatics team, you will develop interpretation and reporting policies based on the latest publications and guidelines, and help scale-up our ever growing variant curation needs. You will also work closely with the senior laboratory director, clinical lab, engineering and product teams to help drive improvements and new feature launches. This role will report to the Senior Laboratory Director, Prenatal in a remote-based position or at our Union City location.

If you have a strong commitment to improving patient care through clear clinical reporting, have experience in germline variant interpretation and report drafting, enjoy digging into the technical side of the data alongside bioinformatics, and thrive in a fast-paced entrepreneurial environment, this could be a perfect opportunity for you.

Key Responsibilities:

• Germline variant interpretation review: Review the variant interpretation results on the curation platform, diving into the literature and variant databases as needed to classify variants for reporting, performing verification as required with BAM file analysis, IGV analysis.
• Variant Curation Process: Update variant curation strategies, variant scoring process, interpretation process, and reporting process on an ongoing basis.
• Germline mutation interpretation and reporting policy development: Work closely with lab directors, R&D, medical, and other related functions to develop and modify the interpretation policies in accordance with ACMG/AMP guidelines, and the latest published literature.
• Contribute to Prenatal R&D: Work closely with the R&D team to help with prenatal projects, providing expertise on variant interpretation, biological pathways/mechanisms, and other gene/variant-level reviews and analyses.

Requirements

• Ph.D. in Human Genetics or related field
• 4+ years of experience in germline variant interpretation based on ACMG/AMP guidelines in a clinical setting.
• Hands-on experience working with human mutation databases (ClinVar, CFTR2, LOVD, HGMD), functional annotation sources (dbSNP), and genome browsers (UCSC)
• Expertise with HGVS nomenclature 
• Experience with IGV and BAM file analysis and data-minded willingness to learn to use new bioinformatics tools
• In depth knowledge of ACMG guidelines and gene specific recommendations in ClinGen database.
• Exceptional attention to detail to follow highly detailed SOPs and strong organizational skills to track and manage clinical reporting and product improvement projects
• Basic bioinformatics skills and coding skills a plus
• Excellent communication skills and ability to work collaboratively with cross-functional teams

Benefits And Perks:

• Working with a team of ‘rockstars’ who bring out the best in everyone
• Open, transparent culture that includes weekly Town Hall meetings
• The ability to indirectly or directly change the lives of hundreds of thousand patients
• Multiple medical benefit options; employee premiums paid 100% of select plans, dependents covered at 80%
• Extremely generous Family Bonding Leave for new parents (16 weeks, paid at 100%)
• Retirement savings program including a 4% Company match
• Free daily on-site lunches provided from top eateries
• Latest and greatest hardware (laptop, lab equipment, facilities)
• A variety of perks on campus (state of the art gym, restaurant)
• Free on-site EV charging (compatible with all EVs, including Tesla)

At BillionToOne, we are proud to offer a combination of (1) competitive base pay, (2) the opportunity for professional growth, and (3) industry leading company benefits (free healthcare options, 401k match, very generous fully paid parental leave etc.).

For this position, we offer a base pay range of $150,000-$170,000 per year.

BillionToOne is an equal opportunity employer. We do not discriminate on the basis of race, religion, color, national origin, gender, sexual orientation, age, marital status, veteran status, or disability status.