Variant Scientist

Overview M42 delivers comprehensive healthcare services across the full continuum of care; from primary care to advanced specialty treatments. Leveraging cutting-edge health technologies and precision medicine, we ensure the highest standards of effectiveness, efficiency, and patient-centered outcomes. With a global presence spanning more than 480 facilities in 27 countries and a dedicated workforce of over 20,000 professionals, M42 is uniquely positioned to redefine the future of healthcare on a global scale.

Since its inception in 2010, National Reference Laboratory (NRL) has expanded from a single standalone reference laboratory to a network of 12 state-of-the-art facilities across the United Arab Emirates. NRL provides world-class diagnostic services to the M42 network and partners with more than 250 clients from a wide range of market segments, including private and government hospitals, medical centers and clinics, corporate organizations, and other reference laboratories.

This role is responsible for identifying and analysing genetic variants to understand their implications in health and disease, supporting clinical decision-making, and collaborating with multidisciplinary teams (geneticists, bioinformaticians, clinicians) to apply genetic insights to patient care. Additionally, the variant scientist must stay updated with the latest advancements in genomics and apply new techniques such as Artificial Intelligence to improve genetic analysis.

Responsibilities

• Perform end-to-end clinical variant interpretation for NGS-based testing (somatic and/or germline, depending on service line).
• Curate and classify variants using accepted frameworks (e.g., ACMG/AMP, AMP/ASCO/CAP; tumor-type context and evidence grading).
• Draft clear, clinically actionable molecular report narratives
• Maintain and contribute to an internal knowledgebase (variant assertions, evidence summaries, literature updates, version control).
• Support validation/verification of new assays, updates to pipelines/panels, and post-launch performance monitoring.
• Participate in quality management activities (CAP/ISO documentation, audits, EQA/PT responses, CAPA/OVR as needed).
• Communicate effectively with laboratory and clinical stakeholders to resolve interpretation queries and support case discussions.

Qualifications

• MSc/PhD (or equivalent) in Molecular Genetics, Genomics, Bioinformatics, Biomedical Science or a related discipline.
• Demonstrated experience in clinical NGS variant curation and interpretation, ideally including somatic oncology (solid and/or heme).
• Strong working knowledge of variant classification standards and evidence sources (ACMG/AMP, ClinVar/gnomAD/COSMIC, relevant literature).
• Ability to write high-quality clinical reports with clear, concise interpretation
• Familiarity with NGS data review concepts (VAF, depth, artifacts, CNVs/fusions basics) and lab workflows in a regulated environment.
• Strong attention to detail, ownership mindset, and ability to deliver under time-sensitive clinical TAT.