Lead Variant Scientist

You Helix

Helix is a place where innovators and doers gather in order to drive significant progress in population genomics. We have come together to work at the intersection of clinical care, research, and genomics.  

If you’re excited by the idea of making a meaningful impact and joining a team where we pride ourselves on driving innovation through fostering an environment with an emphasis on empowering one another to grow, Helix might be the place for you!

Helix The World

Our end-to-end population genomics platform enables health systems, life sciences companies, and payers to advance genomic research and accelerate the integration of genomic data into routine clinical care. We support all aspects of population genomics from recruitment to translational research and help our partners use genomics to improve health outcomes, increase patient engagement, and lower costs.   Leading health systems, including Renown Health, AdventHealth, and Mayo Clinic, use our population genomics platform to power some of the world’s largest and fastest-growing population genomics initiatives.

For the COVID-19 public health crisis, Helix has built one of the nation’s largest COVID diagnostic labs and has been on the leading edge of national viral surveillance efforts tracking B.1.1.7 and other viral strains.  

What is special about this role:

Helix is looking for a Lead Variant Scientist to head clinical genetic variant interpretation services and help expand our test menu. In this key role, you will curate and interpret genetic variants and draft reports for clinical findings from high throughput molecular testing, including whole exome and other molecular assays, for diagnostic and population genomics purposes.

As a Lead Variant Scientist, you will:

Responsibilities:

• Provides accurate and timely variant assessment, including evaluation of published literature and clinical data to provide accurate, thorough, and thoughtful clinical interpretation of results.
• Performs variant and gene assessments including researching the significance of variants, evaluating the evidence for gene-disease associations, and performing data review.
• Troubleshoots complex cases.
• Aids in the development of infrastructure to improve data processing and automate clinical decision making.
• Develops procedures and policies so that variant analysis, reporting and re-classification are accurate and current. Recommends revisions and new strategies.
• May perform technical review of sequencing data derived from NGS, including genome, exome, panel, and single-site variant data, as well as other molecular assay data.
• Communicates clearly with both internal and external stakeholders, such as genetic counselors, physicians, lab staff and product development.
• Maintains laboratory variant knowledge base and assists with curation and harmonization of variant classification changes over time. 

About you:

Education:

• PhD or equivalent with expertise in molecular genetics, human genetics, molecular pathology or related field.

Skills and Experience:

• At least 5 years of experience in genetics and more than 2-3 years of experience in clinical variant classification.
• Strong analytical skills and ability to critically read and interpret data from scientific publications and apply this knowledge within clinical guidelines.
• Knowledge of applicable laws and regulations related to clinical laboratories and the clinical reporting of genetic variants. Maintains knowledge of techniques, procedures, and protocols.
• Ability to perform technical writing, as well as strong communication and computer skills.
• Ability to initiate and work on several projects at a time with minimal supervision, while completing interpretation within expected timelines. motivation to follow through to completion while adhering to deadlines and maintaining accurate records.
• Possesses thorough and ongoing knowledge of current theories and principles of human medical genetics.
• Expertise in cancer genetics and hereditary cancer disorders and/or cardiovascular genetics preferred.
• Hands on experience and broad knowledge of software tools and databases for genomic interpretation and visualization.
• Exceptional organizational and interpersonal skills.

What’s important to us:

• Curiosity — we are all passionate about the possibilities enabled by having access to your own genome
• Responsibility — we have an obligation to people and our partners to operate with highly credible research guided by well respected advisors, with clear and effective communication about our products
• Agility — flexibility and a desire to be nimble, smart, and effective are important to the Helix culture
• Follow-through — we’re building a diverse team with amazing track records of achievement in multidisciplinary environments

What Helix has to offer you:

Aside from working alongside brilliant, dedicated, passionate, down-to-earth, curious, warm, and thoughtful people, we also provide great benefits:

• Competitive compensation, Comprehensive Health insurance package including employer sponsored HSA 
• 12 weeks of Maternity or Paternity leave
• 401(k) with employer matching and 100% vested on first day
• Corporate fitness rate 
• Comprehensive Well Being benefits
• Flexible PTO

Helix is proud to be an equal opportunity employer, and committed to providing employment opportunities regardless of race, religious creed, color, national origin, ancestry, physical disability, mental disability, medical condition, genetic information, marital status, sex, gender, gender identity, gender expression, pregnancy, childbirth and breastfeeding, age, sexual orientation, military or veteran status, or any other protected classification, in accordance with applicable federal, state, and local laws.