Vacant job

Are you ready for the next step in your career within clinical genetics? At Karolinska University Hospital, you will have the opportunity to drive development forward in the country's largest genetic unit. We offer an exciting role where you will work in multidisciplinary teams, contribute to research and teaching, and participate in the development of new diagnostic methods.

What we offer

• the opportunity to influence and engage in the development of the unit's operations
• a close and rewarding collaboration with other professional categories
• the opportunity to help develop future healthcare and contribute to clinical research, development, and teaching

Naturally, you will also benefit from our general perks offered by Karolinska University Hospital.

About the position

Clinical Genetics and Genomics at Karolinska University Hospital is the largest unit of its kind in the country. We provide genetic expertise and are responsible for genetic laboratory diagnostics, family investigations, and patient information regarding genetic diseases. We also conduct research and education. The unit has regional responsibility.

The clinic is a central part of the precision medicine collaboration within the Genomic Medicine Center Karolinska (GMCK), where clinical care, diagnostics, bioinformatics, research, and development meet to implement advanced genomics in healthcare. Through our close collaboration with research groups at Karolinska Institutet, there is a strong link to translational research, method development, and teaching. The operations are also conducted in established collaboration with Clinical Genomics at SciLifeLab, providing access to advanced technological platforms and the latest developments in sequencing and genomic analysis.

Our genetic laboratories are located at Karolinska University Hospital in Solna, in the L-block and in BioClinicum, in close proximity to the new Karolinska Solna. In our accredited laboratories, we work in multidisciplinary teams where hospital geneticists collaborate closely with physicians, biomedical laboratory scientists (BMA), and other laboratory staff. For those interested, there is also an opportunity to teach at the undergraduate and graduate levels.

Knowledge development within genetics is advancing rapidly, and healthcare needs to continuously develop to stay at the forefront. The clinic currently employs twenty hospital geneticists whose main tasks are to handle and respond to laboratory analyses and to develop and quality-assure laboratory methods. The operations range from classical cytogenomics to modern molecular diagnostics and include whole genome sequencing, gene panel diagnostics, and targeted mutation tests for both diagnosis and disease follow-up. The work involves the analysis of genetic data as well as the preparation and assessment of test results, carried out in multidisciplinary teams together with various specialist competencies.

We are looking for you who want to help develop future diagnostics. Here, you will become part of a dynamic and knowledge-intensive operation where the introduction, validation, and quality assurance of new analyses are a natural part of the work. In addition to clinical diagnostic work, you will have the opportunity to contribute to method development, implementation of new technologies, and further development of diagnostic processes with direct significance for patient care. Experience in bioinformatic analysis and interpretation of genomic data is meritorious and seen as a valuable asset in the role.

We wish to hire two assistant hospital geneticists: one who will work in the team for genetic diagnostics of congenital diseases and one in the team for leukemia diagnostics/hematological malignancies.

• The team for genetic diagnostics of congenital diseases: A large proportion of the analyses are based on whole genome sequencing and analysis of defined gene panels specific to different disease conditions. The analysis is performed in the software Scout and within the framework of GMCK's multidisciplinary approach, while sequencing is performed through our established collaboration with the Clinical Genomics facility at SciLifeLab. Other diagnostic analyses performed include cytogenomics, such as chromosome analysis, FISH, and array-CGH, as well as molecular genetic analyses, such as DNA sequencing, targeted mutation tests, MLPA, and trinucleotide analysis.
• The team for leukemia diagnostics/hematological malignancies: Diagnostics include classical cytogenomics, such as chromosome analysis, FISH, and array-CGH, molecular genetic analyses, such as ddPCR, cfDNA analysis, DNA sequencing, and MLPA, as well as modern molecular diagnostics including whole genome sequencing and gene panel diagnostics with analysis in Scout. Through GMCK, the collaboration with Karolinska Institutet, and Clinical Genomics at SciLifeLab, there is a strong link to research and development.

For those interested, there is an opportunity for teaching at the undergraduate and graduate levels. In our accredited laboratory, we work together in multidisciplinary teams where hospital geneticists collaborate closely with both physicians, biomedical laboratory scientists, and other laboratory staff.

We are looking for you who

• are an engineer, chemist, biomedical scientist, or molecular biologist with a PhD in genetics (or another relevant field). Experience working with the analysis of nucleotide variants and structural variants using whole genome analysis in clinical diagnostics is highly valued
• have good collaboration and communication skills, as most work tasks involve dialogue with other professional groups within the clinic.
• engage with the unit's operations and identify needs and opportunities to streamline processes. You seek information and actively contribute to dialogue and the development of operations
• can work independently, take initiative, execute, and complete assignments. You are receptive, flexible, outgoing, and enjoy working in a group.

Qualifications

Requirements:

• Engineer, chemist, biomedical scientist, biomedical laboratory scientist, or molecular biologist
• PhD in bioinformatics / human genetics
• Good knowledge of Swedish and English, both written and spoken.

Meritorious:

• Work experience from clinical genetic laboratory operations
• Experience in change management.
• Experience in teaching and research