PATHOLOGY SPOTLIGHT
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November 5, 2020

To mark National Pathology week, we spoke with Dr Marc Ooft, Consultant Histopathologist at King’s College Hospital, to find out more about the significant contribution pathologists make to healthcare. Marc plays an active role within the London South Genomic Laboratory Hub, contributing to the shaping of pathology services across the region.

Q What is the role of a pathologist?

The pathologist traditionally focuses on classifying cells and tissues to make a diagnosis. Nowadays we also obtain more information from tissues which helps the patient with predicting the effects of the different therapeutic options. 

The pathologist is part of a multidisciplinary treatment team for the patient but we have little to no contact with the patients themselves. However, if fluid or tissue is taken from a patient for example during an operation, then this goes to the pathologist.

Pathologists also very often subspecialise in very specific organ systems and areas within oncology.

Q What are the most challenging and rewarding aspects of pathology?

The most challenging aspects within diagnostic pathology is just getting the diagnosis right. This is especially true for cancers within molecular pathology. There is great variation in cancer with multiple        sub-classifications within the different tumour types. 

The pathologist has the final say in the diagnosis, staging and prognosticators. What is great about pathology is the way we can help patients by providing a definitive diagnosis and also by picking up pre-malignant lesions which can help prevent the development of cancer in patients.

Q What do you feel is the impact of genomics on pathology?

Genomics is the future of Histopathology. Genomics not only helps with making different diagnosis as specific lesions have specific genomic aberrations, but it also helps fine tune the sub-classification of your diagnosis and treatment options of patients with cancer. The latter is what personalised medicine is all about.

Q What most excites you about genomics?

We can obtain a lot of additional information from tissue by looking at mutations in the DNA of the tumour, which means we can much better predict if a patient will or will not react favourably to a treatment. For example, in lung cancer and melanomas, this is already possible. 

The subtyping of diseases/cancers is also made more robustly using molecular markers which means a reduction in a certain level of subjectivity when we make diagnoses based on a combination of pattern recognition and interpretation of biomarkers/protein expressions. 

Genomics will only improve patient care and nothing is more exciting than that!

Q How can we raise awareness of genomics amongst pathologists across our region?

  • Education, education, education. Pathologists already know a lot about genomics as the WHO blue books on cancer within the different organ systems are all written by pathologists. We just need to learn how to put it into practice.
  • Involvement – Having pathologists who are involved in making the diagnosis within the genomic service will only help improve the sensitivity and specificity of the molecular assays we use to determine whether a genomic aberration is or is not present.
  • Integration – As doctors, we are in a unique position to integrate the histomorphology, genomic aberrations and clinical picture.

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With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
 
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
 
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
 
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.