Sr. Clinical Genomics Scientist, Prenatal

Do you want to join one of the fastest-growing molecular diagnostics startups and be a pioneer for an industry-leader who is impacting the lives of millions?

BillionToOne, ranked at the top 5% of Y Combinator companies with $300M+ in funding from prominent VC firms, has developed a DNA molecular counter that increases cfDNA diagnostic resolution by over 1,000 fold. BillionToOne's first product, UNITY™ is the first and only non-invasive prenatal test that can directly screen an unborn baby and assess its risk for common and severe recessive gene disorders and chromosomal abnormalities, as well as fetal sex and fetal antigens, from a single tube of blood from the pregnant mother without paternal testing.

In 2023, BillionToOne launched two liquid biopsy products that will markedly improve oncology treatment and care. With Northstar Select™, clinicians will be able to select cancer therapies that will be most effective to each patient based on their individual genetic makeup. Northstar Response™ will enable clinicians to monitor a patient’s early response to these cancer therapies, by measuring minute changes in their ctDNA, which can reduce ineffective treatments and unwanted toxicity, lower costs, and substantially improve clinical outcomes.

BillionToOne is looking for a Sr. Clinical Genomics Scientist, Prenatal 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.