The STP training is recorded by signing things off for your e-portfolio and your university assessments. Work-based training involves competencies, case-based discussions (CBD), direct observation of practical skills (DOPS) or observed clinical events (OCE). For each rotation or specialist module, you have to do all the competencies involved and a combination of DOPS or OCES, and CBDs.
As part of my Bioinformatics rotation, and because I usually don’t like to do things the easy way, I got to go observe at a Genomic Counselling clinic which is one of the OCEs of this rotation; “Attend a clinic as an observer and explain your role to the patient”. I thought it would be an excellent opportunity to see how genomic councelling works and get some more clinical experience. I contacted our genomic counselling team, they were very accommodating and agreed for me to observe at an adult endocrine clinic. The majority of endocrine conditions referred to genomic councelling involved panel testing so we thought it would be easier to explain what a bioinformatician does in that context.
The genomic counsellor met with me before the clinic to explain the conditions and give me a brief introduction of how a consultation works. I am not going to lie, I was a bit scared. What if I said something wrong to a patient? At the end of the day, they are here to get a better understanding of their condition and to make an informed decision about whether they want to proceed with genetic testing.
But what does genetic testing even mean? What are the implications of a positive result? In the majority of cases, a positive result will enable better management of the patient’s condition. They would be offered more frequent and specialised screening according to their results or it could inform the clinicians about the best course of treatment. In terms of the endocrine conditions I observed, a positive result would suggest that there was a genetic cause for the growths identified which in turn means, after surgery, there would be a higher chance of reoccurrence. This would enable the patients to access yearly endocrine checkups and biennial full-body MRI scans. It would also allow direct family members to be offered genetic testing, and if positive, life-long screening.
For us, genetics is incorporated into our daily lives, routine, but explaining genetics to a layperson can be tricky. The counsellor mentioned at the beginning how we aren’t really supposed to mention the word mutation unless the patient does so. Why is that? Apparently, some people tend to correlate the word mutation with sci-fi movies like the X-men, and feel like because they have a mutation, they are “mutants”. We also weren’t allowed to call mutations genetic mistakes, rather the preferred term was a genetic alteration. For all the patients, the counsellor explained what genetic testing was, how inheritance works, how we both have two copies of each gene, one from our father and one from our mother. Understanding simple concepts of genetics was crucial to allow the patient to give informed consent.
Out of all the patients we saw, I only explained my role to one of them. A big part of being a counsellor is being able to read the room, having an understanding of how the patient is feeling or what they are thinking. One of our patients was a really chatty elderly man, so explaining bioinformatics would only introduce extra questions and potentially make the appointment overrun. One of the other patients we had, hadn’t come to terms with their diagnosis so it would have been out of place to stir the discussion to anything other than what would be the best for the patient. I did though get the chance to actually introduce bioinformatics to one of the patients, they seemed to understand it and came back with a question. So if you find a genetic alteration, is it 100% certain that it is there? Adriana don’t panic, breathe, it is ok you can do this. Well, 100% is not a term we like to use in bioinformatics. So I briefly introduced the concept of QUAL scores and how in most cases it would be a 99.9% chance of a variant with a good quality score to actually be present in the genome. That patient opted to think about genetic testing and give an answer on a later date, so let’s hope I didn’t stir them away from it.
Visiting the clinic was definitely an eye-opening experience. I was very impressed as it takes a lot of patience, communication and personal skills and caring for your patient. Counsellors are taught how to give non-directive advice; provide all the facts to the patient without trying to persuade them on their own opinion. The patient has to make the decision on their own. They have to be neutral, unbiased and unprejudiced and most importantly the patient should feel that they are in a safe place to share all their concerns and questions.