This film features the same character (Bobby) as in the animated film “Diagnosing testing for rare diseases: the role next-generation sequencing” It starts out with the character rushing to a medical consultation, after which he invites us along on his quest for knowledge. He observes a sequencer and we learn that two types of data can be generated by an HTS analysis: primary data, the purpose for which the sequencing procedure is requested, and SD (secondary data) - which the patient will have chosen to access - which are genetic risk factors for certain diseases likely to develop later in life, and are unrelated to the initial disease. With the spotlight on SD, the character informs us that only results relating to diseases that can be monitored, prevented or treated can be reported. These results are referred to as actionable data, and only about 2% of patients have a variation in any of the genes examined.
The scene ends with a consultation where a geneticist is summarising the benefits and disadvantages of access to SD and stressing the importance of the patient himself (or his parents, if necessary) taking the decision to access his SD.
This film was funded by the French Society for Preventive Medicine (SFMPP), and co-produced by the TRANSLAD University Hospital Federation and AnDDI-Rares (the French reference network for rare developmental abnormalities and intellectual disabilities), in collaboration with Eduter in Dijon.
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