Skip to 0 minutes and 0 seconds A clinical geneticist is a doctor, a specialist in genomic medicine, who advises on whether a condition is, or could be, heritable, or otherwise influenced by genetic factors. What the clinical geneticist brings to the table is this ability to integrate both clinical and molecular information. That knowledge both of the clinical presentation of rare genetic disorders, so that’s called the phenotype, and also, a detailed knowledge of molecular genetics, and the ability to integrate the two, so be able to take a genetic variant and interpret it in the context of the phenotype. We try to work out based on clinical information has this patient got a particular genetic condition? And if so, what is it?
Skip to 0 minutes and 45 seconds And what would it actually mean for that patient’s health? And also, importantly, what is it going to mean for their relatives? Do they need, for example, to be tested as well? We would need to start off by taking a very detailed family history, doing an examination to look for particular features, all the time thinking what a diagnosis might be or what a family history might point towards. Every clinic will be different. You will see patients who may have very very rare disorders that you have never seen before, and maybe no one has ever seen before, and so a lot of our time is spent actually preparing beforehand.
Skip to 1 minute and 21 seconds We do work with very very rare disorders and often we can email world specialists in those disorders and actually get an answer from them about how best to treat our patients, so it’s incredible having access to people like that, with that level of knowledge. This is the most exciting time that there has ever been to work in clinical genetics, it’s really exciting, and that’s because of the technology. Mainly the sequencing technology that we now have it’s absolutely revolutionised really everything about the role and our ability to make diagnoses is just exponentially different to how it was before.
Skip to 1 minute and 53 seconds And we’ve got many more colleagues, in mainstream specialties, who are also using that technology who we need to interact with to help interpret the test results for our patients. We have the expertise as clinical geneticists to be able to support our mainstream colleagues to be able to determine whether a variant that has been identified is either benign, pathogenic, or sometimes we’re left with that uncertainty. This is a hugely opportunistic time for us to really understand disease, and to really make great strides forward in understanding the science behind how genetics links to health and disease.
Skip to 2 minutes and 27 seconds More and more people are finding out about their genetic information, and so I think my future’s going to involve looking into trying to understand that genetic information more and trying to understand the huge amount of data that’s coming out from all the sequencing projects that we’ve got going on. I love the fact that I’m in this cutting edge specialty. Things are moving forward so quickly, and that I’m there on the cusp of that wave going forward with these new technologies that are transforming medicine. [Music]
Meet the Clinical Geneticists
In this video we meet Clinical Geneticists. We learn that they are qualified doctors who specialise in genetic conditions and have specialist understanding of both the clinical presentation of rare genetic disorders and the laboratory features that go along with them. This gives them the unique ability to interpret genomic variants (identified using modern sequencing technologies) within the context of an individual’s situation to provide a diagnosis – where possible – for the individual and their family.
Professor Anneke Lucassen, Professor Kate Tatton-Brown, Dr Andrew Douglas and Dr Sabrina Talukdar showcase what the work of clinical geneticists involves:
Clinical geneticists work as medical specialists within the genomics multidisciplinary team in a hospital.
- They see a wide variety of patients. For example, they might see a child with a suspected genetic disease or they might see an expectant mother or couple to discuss risks to a pregnancy. They might also see adults living with a genetic disease diagnosis or questioning their risk of genetic disease.
- For all patients they see they advise on diagnosis, treatment and management of individuals as well as their wider family members, who may also be affected.
- Many of the conditions seen by clinical geneticists are very rare and the role therefore requires lots of research into the latest medical literature, as well as working in collaboration with genomics specialists around the world to share expertise in particular conditions and ensure that every patient receives the best care.
The film explores some of the challenges of the role and the way in which the role is changing as genomics is increasingly used in mainstream care; with geneticists required to support colleagues across the health system to interpret the results of genetic testing and devise treatment and management plans for patients.