Application Scientist, Clinical Genomics

Saphetor SA; Colombia; Remote; COP 60,000,000 - 120,000,000; Full time

Job summary

Saphetor SA is seeking an Application Scientist in Clinical Genomics to join our commercial organization. You will support customers from pre-sales discussions through onboarding and post-sales arrangements, shaping solutions for diverse labs worldwide.

The role demands strong clinical genomics experience, proficiency in English and Spanish, and the ability to translate complex IT concepts for clinicians and researchers. Remote-first setup with LATAM travel possible.

Qualifications

• Hands-on experience in clinical genomics workflows, including NGS library preparation, sequencing, and secondary and/or tertiary analysis in a clinical setting.
• Solid grasp of variant classification frameworks and a deep understanding of NGS workflows.
• Ability to translate complex clinical genomics and bioinformatics concepts for clinicians, laboratory technicians, researchers, and IT professionals.
• Global mindset with experience supporting international customers in a scale-up environment.

Responsibilities

• Pre-sales Support: Deliver expert demonstrations bridging clinical needs with VarSome Premium/Clinical; own evaluation process and advise on lab equipment/system integrations.
• Post-sales Support: Lead onboarding sessions for geneticists and bioinformaticians for rapid time-to-value; advise on variant interpretation and clinical workflows.
• Workflow Optimization & Support: Fine-tune filtering strategies and automation to maximize platform stickiness and coordinate between customer support and stakeholders.
• Scientific Advocacy: Gather power-user feedback to influence the product roadmap and develop technical white papers.
• Cross-functional Collaboration: Partner with Product, Marketing, and Operations to ensure product-market fit and growth; translate features into customer benefits.

Skills

Clinical genomics workflows

NGS data analysis

Variant interpretation

Lab equipment integrations

Technical communication

Multilingual Spanish/English

Education

Master’s or PhD in Human Genetics

Tools

NGS pipelines

Variant classification frameworks

Job description

A Little Bit About Us: Saphetor ’s mission is to enable anyone to find, share and use the most comprehensive human genome data – and to collaborate to improve health and lives around the world. To do this we have built the VarSome suite of bioinformatic tools, the world’s leading resource for analysis and interpretation of human genome variant data, with more than 6 000 citations in scientific papers, and over 60 000 registered professional users. Our customers work around the globe across academic, clinical, and industry laboratories analysing NGS (Next Generation Sequencing) data for research and diagnostic purposes.

Saphetor is a Swiss precision medicine company with offices in Lausanne (CH), Boston (USA), and Athens (GR) employing a diverse global workforce.

The Opportunity

We are looking for an Application Scientist in Clinical Genomics to join our commercial organization.

Standing at the intersection of clinical genomics and bioinformatics, you will support our customers through their journey with VarSome, from pre-sales discussions and platform onboarding to post-sales support and account management finding new opportunities for further growth. You will play a key role in shaping and delivering solutions to our direct and indirect customers. We thrive in a high-pressure, high-performance environment where clinical precision and rapid growth meet. While our pace is fast, it is always directed by rigorous organization and clear processes, ensuring that our commitment to quality is never compromised by our drive for speed.

Role Responsibilities

• Pre-sales Support: Act as the technical “closer” by delivering expert demonstrations that bridge clinical needs with VarSome Premium and Clinical; you will own the customer evaluation process, solve “pain points” around variant analysis, and advise on lab equipment/system integrations.
• Post-sales Support: Lead onboarding sessions for geneticists and bioinformaticians to ensure rapid “time to value”; act as a trusted advisor on variant interpretation and clinical workflows
• Workflow Optimization & Support: Fine-tune filtering strategies and automation to maximize platform “stickiness” while acting as a high-level bridge between customer support and stakeholders to ensure seamless routine operations.
• Scientific Advocacy: Systematically gather power-user feedback to influence the product roadmap and cultivate strategic relationships for conference presentations (e.g. ALAG) and the development of technical white papers.
• Cross-functional Collaboration: Partner with Product, Marketing, and Operations colleagues to ensure product-market fit and growth. Work with growth marketers to translate features into benefits for prospects, while influencing the product roadmap through prioritization.

The Ideal Candidate (Profile)

The ideal candidate combines strong clinical genomics expertise and a passion for data analysis with a commercial mindset. You should be able to translate complex technical/IT specifications into clear benefits, while possessing the communication skills necessary to engage both laboratory professionals and clinicians. What you will bring:

• Education: A Master’s or PhD in Human Genetics, Laboratory Medicine, Molecular Biology/Pathology, Life Sciences, or related field.
• Expertise: Hands‑on experience in clinical genomics workflows, including NGS library preparation, sequencing, and secondary and/or tertiary analysis in a clinical setting.
• Technical Knowledge: A solid grasp of variant classification frameworks and a deep understanding of NGS workflows.
• Communication: The ability to simplify complex clinical genomics and bioinformatics concepts for clinicians, laboratory technicians, researchers, and IT professionals.
• Languages: Native in Spanish. Proficiency in English is a must. Fluency in Portuguese will be considered as a plus.
• Clinical Experience: Previous background in a hospital or private laboratory setting interpreting NGS patient cases.
• Regulatory Knowledge: Familiarity with working in regulated environments, such as IVDR, CLIA/CAP, or similar standards.
• Global Mindset: Proven experience in multicultural environments and/or supporting international customers in a scale‑up setting.

Strongly Valued

• Clinical Experience: Previous background in a hospital or private laboratory setting interpreting NGS patient cases.
• Regulatory Knowledge: Familiarity with working in regulated environments, such as IVDR, CLIA/CAP, or similar standards.
• Global Mindset: Proven experience in multicultural environments and/or supporting international customers in a scale‑up setting.

Mindset & Key Skills

• Scientific Rigor: A curious, detail‑oriented professional who maintains high scientific standards while managing complex data analysis.
• Commercial Mindset: The ability to balance scientific accuracy with pragmatic sales decisions and translate features into customer benefits.
• Self-Organization: A structured thinker with strong prioritization and project management skills, comfortable in a fast‑paced environment.
• Global Mobility: Available and willing to undertake international business travel in the LATAM region to support our global customer base.

Your career journey with us includes, among others:

• A position in a fascinating healthcare growth domain, at the cutting edge of technology and research
• A competitive compensation package tailored to your unique expertise and professional background.
• A remote‑first work environment that promotes a healthy work‑life balance
• Endless learning opportunities, while transferring new technologies from academics to clinical practice all over the world.

Saphetor is proud to be an Equal Opportunities Employer. We provide equal employment opportunities to all qualified applicants and our employees, regardless of race, color, religion, national origin, age, sex, medical condition or disability, sexual orientation, gender expression, or marital status.