Meet the Genomic Scientists

In the last few steps we’ve met some of the members of the genomics team, which, as Michelle Bishop explained in step 2.4, is a broad term describing the professionals who work to make or pursue a genomic diagnosis for patients.

To close the circle, we need to explore the role of the scientists in the team. The healthcare scientists involved in genomics fall into two distinct categories: the clinical scientists and the genetic technologists. Clinical scientists and genetic technologists perform different roles, but work together closely and are both equally integral to finding answers for patients.

Genetic technologists are responsible for what is commonly referred to as the ‘wet lab’ work; that is, the handling and processing of all different kinds of samples – for example blood, sputum or tumour – for genomic sequencing. Clinical Scientists on the other hand, as experts in the application of genome sequencing technologies, have responsibility for ensuring the most appropriate testing is selected for each patient in the first place and for interpreting the results of genomic tests. This also includes passing results back to clinicians – for example clinical geneticists or consultants in other specialties such as cardiology or paediatrics – so that they can be conveyed to patients.

As we’ve seen, there are many different types of genomic and genetic tests, and it’s important to know that healthcare scientists often work across all or many of these tests, not just whole genome sequencing. They may however choose to specialise.

We’ll learn more about the work of healthcare scientists in whole genome sequencing as we explore the sequencing process this week, but below are a few key points that might help you understand the roles better.

Clinical Scientists

• There are different types of clinical scientists, but those working in genomics are trained at postgraduate level in genomic science, meaning they have a deep understanding of what is happening at a cellular level and how changes in the genome impact a person’s health . They work closely with medics, who have expertise in the clinical presentation of genomic variants, to find a genomic diagnosis for patients.
• Clinical scientists in genomics may specialise in either rare disease or cancer.
• Clinical scientists are expected to be experts in sequencing technologies and understanding how they are best applied for patient benefit; many clinical scientists are involved in research and it is considered a responsibility to stay abreast of developments in sequencing technology.
• Clinical scientists transfer cases from the medical team to the laboratory team and work closely with genetic technologists to ensure that each patient sample follows the correct pipeline. Clinical scientists validate the results of genomic tests and are responsible for writing reports for clinicians detailing the conclusion of genomic testing – ie has a variant considered ‘causative’ or ‘actionable’ been found?

Genetic technologists

• Technicians are fundamental to any laboratory. Those working in genomic laboratories are experts in the appropriate handling and processing of a range of patient samples that will be sent specifically for genomic testing. They are ultimately responsible for ensuring that each patient sample follows the correct pipeline.
• Genetic technologists have the skills required to prepare various types of samples and extract DNA so that genomic testing can be performed. They adhere to strict protocol to ensure the integrity of DNA is maintained as much as possible and that the DNA sent for sequencing will yield a result.
• In most laboratories there are technologists working at various levels. There may be people focusing on wet lab work, analysis, supervision and training and more senior management responsibilities – including the management of equipment – depending on the size and scope of the laboratory. Some technologists work across several types of test while others become specialised in a particular type of testing.
• Technologists very often work alongside Clinical Scientists in the analysis and interpretation of genomic data. Genetic Technologists will undergo the same rigorous training in different analytical techniques; a genetic technologist will often do the first line analysis of data with the clinical scientist then checking and validating the result.