Technical Product Manager - Clinical Variant Interpretation
Technical Product Manager - Clinical Variant Interpretation
Product
Full Time
Company Overview :
Join a pioneering genetic testing company at the forefront of precision medicine. Our mission is to revolutionize healthcare through innovative genetic testing solutions. We're committed to advancing personalized medicine and improving patient outcomes through cutting-edge technology and scientific research.
Position Overview :
The Product Scientist – Clinical Variant Interpretation is responsible for the accurate identification, classification, and documentation of genetic variants in accordance with established guidelines (e.g., ACMG / AMP). This role involves interpreting results from variant analysis pipelines, reviewing scientific literature and databases, and generating high-quality clinical reports. The Variant Scientist also plays a key role in curating and maintaining the laboratory’s variant knowledgebase.
In addition to variant interpretation, the successful candidate will collaborate closely with software engineers and bioinformaticians to guide the development and improvement of variant annotation and classification tools. This includes providing domain expertise to ensure software outputs align with clinical and scientific best practices, particularly ACMG / AMP guidelines.
Key Responsibilities :
Variant Interpretation and Reporting
- Perform accurate and timely classification of germline variants in accordance with ACMG / AMP and ClinGen guidelines.
- Evaluate evidence from scientific literature, functional studies, and population databases to support variant interpretation.
- Generate concise and clinically relevant variant summaries and recommendations for inclusion in clinical reports.
- Collaborate with the knowledgebase team to maintain and curate the laboratory’s internal variant database, including ongoing reclassification of variants as new evidence emerges
Assay and Pipeline Development
Contribute to the research, development, and validation of new genomic assays, with a focus on improving variant detection and interpretation accuracy.Collaborate with laboratory and bioinformatics teams to assess and refine pipeline performance and output.Software Development Support
Serve as the subject matter expert for variant annotation and ACMG interpretation within cross-functional software development projects.Work closely with software engineers and bioinformaticians to design, test, and improve tools for variant curation, classification, and reporting.Ensure clinical relevance and regulatory compliance of automated variant interpretation tools.Process Improvement
Monitor and incorporate updates in clinical genomics guidelines, regulatory requirements, and variant classification standards.Identify and implement improvements in variant interpretation workflows and data quality.Participate in quality assurance initiatives, SOP development, and internal audits, as applicable.Cross-functional Collaboration and Communication
Work closely with clinicians, scientists, and patients to understand their needs and pain points.Provide scientific and technical support to commercial and customer success teams during pre- and post-sales engagements.Support preparation of product documentation, competitive analyses, marketing materials, and scientific content for external communication.Support the planning and execution of product launches in collaboration with marketing, sales, and product teams.Compliance and General Responsibilities
Uphold data privacy and information security protocols as per organizational policies.Adhere to all applicable clinical laboratory regulations and ethical guidelines.Perform additional duties as assigned by the Team Lead, CEO, or COO.Qualifications / Experience :
A PhD in biological sciences, molecular genetics, human genetics, or a related field, with 2–5 years of experience in variant classification and application of ACMG / AMP guidelines is preferred.Alternatively, candidates with a master’s degree in molecular genetics, human genetics, molecular pathology, or a closely related field will be considered if they have 2–5 years of hands-on experience in variant interpretation, particularly in clinical or research settings.Candidates such as genetic counselors with proven experience in variant curation, clinical reporting, and ACMG-based classification frameworks are encouraged to apply.Familiarity with clinical genomics databases (e.g., ClinVar, gnomAD, HGMD) and tools such as VEP or ANNOVAR is essential.Experience with scripting in Python, R, or similar languages is a plus, particularly for building or customizing variant annotation pipelines.Join our team and help shape the future of personalized medicine! If you are passionate about making a difference and thrive in a dynamic, entrepreneurial environment, we want to hear from you. Apply now to be part of our growing company!
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