The Johns Hopkins University Department of Genetic Medicine is seeking to hire a Clinical Laboratory Specialist.  The DNA Diagnostic Laboratory (DDL) is a high-complexity, clinical, molecular genetics laboratory integrated within Johns Hopkins Genomics—a partnership between the Institute of Genetic Medicine and the Department of Pathology at Johns Hopkins Medicine. The DDL is committed to offering state of the art clinical molecular testing for inherited disorders in compliance with the highest regulatory standards. The DDL applies next generation DNA sequence analysis (Whole Exome Sequencing and NGS panels) to clinical diagnostics in additional to Sanger sequencing.

The DDL is seeking a highly skilled Clinical Laboratory Specialist to join our team. The Clinical Laboratory Specialist will be responsible for analyzing data from clinical laboratory tests in accordance with established standard operating procedures (SOPs). The candidate will be expected to acquire a level of knowledge to properly analyze results, especially where results are abnormal or a typical, while adhering to clinical regulatory requirements. In addition, the successful candidate should become proficient in clinical molecular variant interpretation and writing customized clinical reports.

Specific Duties and Responsibilities

• Performs clinical data analysis; requires specialized knowledge of complex and rare genetic diseases in order to make accurate interpretations and recommendations.
• Evaluates clinical molecular variants according to ACMG guidelines using online databases, in-silico variant analysis tools, and comprehensive assessment of the scientific literature.
• Writes customized clinical reports and communicate results to referrers when requested.
• Participates in the authorship and maintenance of clinical analysis and QC-related SOPs.
• Assists with development of technical assays, bioinformatics protocols, and performance improvements as needed.
• Adheres to quality standards and regulatory requirements (CAP) throughout all phases of testing and analysis and maintain quality assurance documentation.
• Strictly complies with patient care and confidentiality policies, including HIPAA regulations.
• Performs miscellaneous related duties as assigned.

Knowledge, Skills, and Abilities

• Strong knowledge of genetics, genomics, and molecular biology.
• Excellent analytical, interpretive, and communication skills.
• Attention to detail is critical to the successful performance of this job as it directly affects patient diagnoses or research outcomes.

Specific Physical Requirements

• While performing the duties of this job, the employee is regularly required to sit, talk, see and hear.
• May sit or stand for prolonged periods and occasionally required to walk.
• The employee is frequently required to use hands to finger, touch, feel, and type.
• May reach with hands and arms; stoop, kneel, or crouch.
• Prolonged vision requirements including viewing computer screen, paper reports/documents, charts and results.
• Staff may be required to complete annual competency review, and must ensure compliance with Hospital Policy, Laboratory Policy & Procedure, Health, Safety & Environment regulations, and all applicable privacy & confidentiality laws/practices.

• Bachelor's Degree in Biology, Chemistry or related field.
• Five years' experience in a comparable laboratory performing relevant techniques.
• Master's degree, with related graduate research, may substitute for experience to the extent permitted by the JHU equivalency formula.

• Master’s Degree and experience working in a clinical laboratory or research setting.

Classified Title: Clinical Laboratory Specialist 
Role/Level/Range: ACRP/04/MD  
Starting Salary Range: $55,800 - $97,600 Annually ($76,700 targeted; Commensurate with experience) 
Employee group: Full Time 
Schedule: M-F, 8 to 4;30 pm 
Exempt Status: Exempt 
Location: Hybrid/School of Medicine Campus 
Department name: ​​​​​​​SOM Genetics DNA Diagnostic Lab DDL  
Personnel area: School of Medicine