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Communicating genetic information
In this step, we will hear from Glen Brice, Senior Genetic Counsellor, about his experience of communicating genetic information to patients.
Hi. I’m Glen Brice, and I’m the lead genetic counsellor at St. George’s. I lead a team of eight genetic counsellors and three research genetic counsellors. And our role is to see patients who are either affected by a genetic condition or could be at risk of a genetic condition or even passing one on to their children. I think the communication skills are very important because we’re sometimes dealing with very complex information. And we’re dealing with information that can have implications not just for the individual sitting in front of us but also for their close relatives and, in some cases, even distant relatives.
And it’s a very complex conversation that we have, with some of these people, with very deep psychological implications for some of them. They find it very difficult to take in the information, because they don’t particularly understand it or they’re under significant stress at the time when we’re trying to pass this information on. So it’s very much a two-way process, and it’s very much an individualised consultation, for each patient. I think the biggest difference between genetic testing and mainstream testing is the implications initially to the individual sitting in front of you, because you may be telling them something which could have significant implications for them in the future. But also the implications to their family.
And that is definitely the biggest difference between a standard test which is done routinely in medicine, compared with a genetics test. The fact that it does affect other family members is the big, big issue for a lot of people and is not often highlighted by individuals who are not used to dealing with genetic information. There’s also the issue of dealing with unexpected findings– things like nonpaternity or test results which we can’t interpret at this stage. Unexpected findings where you find something which is not related to the primary condition. And as our testing becomes more and more complex, these issues are going to become more and more of an issue, particularly in mainstream medicine.
In the past, we would test one gene for one condition. We’re now testing sometimes up to 100 genes on a panel. And we’re very soon moving on to diagnostic exomes, clinical exomes, and we’re moving on to doing whole genome sequencing in the NHS, probably within the next few years. And we’re finding that there’s a number of unexpected findings coming up. And it’s incredibly difficult to interpret these, even in a specialised genetics service. And to try and translate that into a general mainstream area is extremely complex.
Glen Brice, Senior Genetic Counsellor, tells us about his experience of communicating genetic information to patients. Increasingly, genetic tests are being undertaken outside of the speciality of clinical genetics, in mainstream medical specialities.Evidence suggests that both medical professionals, patients and the public view genetic tests differently to other healthcare tests.Let us first consider the two major types of genetic test:
- A diagnostic genetic test is undertaken in an individual with signs or symptoms of a condition for diagnosis and to inform patient management.
- A presymptomatic genetic test is undertaken in a well individual to give information about how likely it is that a person will develop a condition. It does not give accurate information about when a person will develop the condition.
- For diagnostic testing; how will the result change the clinical management of the patient? What is the likelihood of the patient developing other clinical features of the genetic condition?
- For presymptomatic testing; what is the likelihood of the patient developing the clinical features of the condition? What screening measures are offered? How will any clinical features of the condition be managed? What will be the psychological impact of finding a mutation?
- For both; what are the implications for other family members, including any difficulties in disseminating genetic information in the family?
Talking point
A learner on the previous course commented that we used to undertake extensive pre-test counselling for HIV, and there was controversy about the amount of anxiety this caused to people when most tests returned negative.HIV testing is now routinely undertaken without any pre-test counselling.Do you think the same principles might apply to genetic tests, or are these different?This article is from the online course:
The Genomics Era: the Future of Genetics in Medicine
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The Genomics Era: the Future of Genetics in Medicine
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