Evan GOUY
Medical geneticist (MD) & Instructional designer
Passionate about medical education, I strive to make the link between the world of health and education
Location France
Activity
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indeed !
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Thanks for sharing. It's interesting to see the differences and similarities between healthcare systems!
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good idea for Peter ;)
but...
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Evan GOUY replied to Saranne Davies
Absolutely!
The legislation does not allow us to do what we want in terms of analysis, obviously!
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your reasoning is interesting! you will discover the answers in the following video!
As a (young) dysmorphologist I try as much as possible to have a plural view of these signs which are increasingly challenging us given the heterogeneity of clinical expression of syndromes of genetic origin. The diagnosis is sometimes not the most obvious one!
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Genetics as a medical speciality does not exist everywhere and the numbers are far from sufficient!
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The rest of the story will tell you if you are on the right path!
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Evan GOUY replied to Billel REKAIBI
indeed, this is one of the exciting aspects of the discipline as a clinician: how to deal with these issues while at the same time 'reassuring' people about their feelings of guilt!
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Evan GOUY replied to Laura Valinotto
That's exactly right, even if the sanger as a "gold standard" is becoming less and less interesting with the performance of the latest generations of sequencing !
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Phenotyping can be automated for example with photographic or imaging analysis or biological data. So not necessarily!
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That's about it. In practice, it depends on the experience of the clinician (in general or on a given type of disease) and especially on the tools available. Genotype first is made possible by high-speed sequencing techniques and other genome-wide analyses of high resolution: this was therefore not possible until about ten years ago.
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quite, to confront diagnostic suspicions with available data !
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Evan GOUY replied to Mosab Alsaedi
Indeed! Or more "simply", as a quick screening before releasing the next level
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Evan GOUY replied to Mosab Alsaedi
Exactly! No need to explore a lot of genes if you know what you search
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Absolutely! In France it is for example mandatory for most of the pre-symptomatic diagnostic consultations!
For more general cases, it is also necessary to take the time to explain things several times at intervals: as a clinician, I keep in mind that it is (often) a slap in the face for families. I "just" have to move on to the next consultation,
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nice "wordplay" :)
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I can imagine that it is more and more frequent to receive in genetic consultations patients for whom "classic" genetic tests have been prescribed by other specialties. It is up to us to avoid the diagnostic odyssey if possible!
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Evan GOUY replied to Primrose Musiyandaka
interesting :)
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Evan GOUY replied to Ana Maria Ramirez-Scarlett
In France, all doctors can prescribe them but it is specified everywhere that it is necessary to be able to return the results: that filters a little!
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More and more, targeted testing is used when the diagnosis is certain and genome-wide testing (chromosomal or molecular) is preferred otherwise...
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Information on the web sometimes has the opposite effect: an impression of knowing too many things that go in all directions! It is also sometimes difficult for clinicians who have to make diagnostic announcements to families who are going to deconstruct everything that is said in the light of their reading!
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Evan GOUY replied to Jillandra Williams
Welcome on board @JillandraWilliams ! I hope that this MOOC will enlighten and inspire you!
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Evan GOUY replied to Catalina Quijada
@CatalinaQuijada Hello Catalina ! Great that IFMSA led you to us!
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Nice ressource, thanks!
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Fortunately, we have bioinformatics file formats that allow all these databases to be coded to avoid spreadsheet files with 12 billion lines
oops, windows crashed
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Evan GOUY replied to Romain Nicolle
There are people who say that with the development of Artificial Intelligence, we won't need for teachers or mentors in the Future, the educational tools will all be autonomous and personalised to each learner.
They are also wrong even if the role of mentor or teacher is evolving a little bit every day!
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that's the title of the article I think :)
Funny how we still need clinicians!
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Evan GOUY replied to Romain Nicolle
This is especially true at a time when health care providers are reluctant to perform genetic tests on patients who already have a diagnosis! (true diagnosis or variation reclassified as a susceptibility factor)
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Evan GOUY replied to Romain Nicolle
Dear Romain :)
You raise the dynamic aspect of the interpretation and therefore of the classification of variations which depends on current knowledge!
You mention the variability of symptoms: this term encompasses (in French at least) the signs felt by the patient. The variability can concern the signs more globally (e.g. a particular shape of the...
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Evan GOUY replied to Olivia Lacroix
@OliviaLacroix There is also a difference between explicit and explicit. As a clinician, the consultation time dedicated to consent and answering questions is important!
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Evan GOUY replied to Helle Patterson
Your story reminds me that although we still have many diagnostic impasses, we have come a long way and we should not forget it!
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Evan GOUY replied to Helle Patterson
There is only one answer to this: keep your curiosity and take care of yourself!
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I'll be curious to hear your thoughts on the subject before bringing you an answer :)
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One of the few rare species that grows day by day!
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@MafaldaLopes easy to use but let me just make a remark: just keep the reflex to look at the date of update of the consulted page! Science evolves!
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Hello,
Do you think a sentence needs to be reworded to make it clearer? -
Evan GOUY replied to Alexandra Cruickshank
Hello Alexandra,
Actually, the "young" was there in the previous version of the text because I was still a resident and not yet a doctor with full responsibility. It was mainly to say that I have more experience in pedagogy than in genetics, for the moment, unlike my colleagues!And as the term "fellow" is not always clear on the fact that it is only the...
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Evan GOUY replied to Timur Narbekov
You will hear about the Rendu Osler disease later in the MOOC :)
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Thank you for your comment!
One of the most common bleeding disorders! -
Transmission (and the guilt that goes with it) is indeed a complex subject!
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Evan GOUY replied to Gabriela Repetto
Welcome Gabriela, Don't hesitate to ask if you need additional resources for your project!
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Evan GOUY replied to Charlotte Boulton
Welcome aboard! I guess UCL is in London? May you join us in the vast family of medical genetics professionals!
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Indeed, it is an important day for the dissemination of information on rare diseases and to make people understand that they are rare in themselves, but together this is a number of people not to be neglected
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Evan GOUY replied to Sheila Ramos del Saz
3 very different diseases that need to be diagnosed early!
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Evan GOUY replied to Rachael Britton
Indeed, it is a disease linked to the accumulation of copper in the body!
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The answer is... probably not !
The existence of different versions of the reference genome does not help to fully homogenise. It takes some time to adapt all tools and procedures to a new version of the genome. Some laboratories are still working in hg19 / GRCh37 for example. The merger of the "hg" and "GRCh" projects has helped a little to make things...
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Evan GOUY replied to Danny Kunz
@DannyKunz I'm not going to get too far into the subject of the metabolome, as I don't use it on a daily basis. So to answer your question, no it's not part of the diagnostic routine. There is still room for all European centres to have NGS at lower cost and easy access !
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Evan GOUY replied to Simon Akhtar
By extension, the average depth of an NGS analysis is determined: however, one must be wary because by definition, one can have areas at 100X and others at 10X...
As for coverage, your comment is correct, but just to clarify: it is not necessarily entire genes for which one should be wary (e.g. a gene panel dedicated to epilepsy has zero coverage on...
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Evan GOUY replied to Simon Akhtar
Hello,
I will try to answer you by rephrasing.
The depth is the number of times a base is sequenced.
As the sequencing processes make mistakes, having a good depth allows a better degree of certainty of having the reference genome base or a variation. The higher the depth, the more it is possible to highlight a possible mosaic (useful especially in... -
Evan GOUY replied to Danny Kunz
The phenotype/genotype distinction is more pedagogical than real: in practice both are used simultaneously. I would be curious to know if practitioners ask for genetic analyses without any phenotyping, even if only briefly: that would be quite surprising! And even more, a medical biologist who would interpret a genetic analysis without clinical elements is a...
