• Question: How can you find out if there is a genetic disease in somebody's family?

    Asked by anon-258367 to Laura on 10 Jul 2020.
    • Photo: Laura Durrant

      Laura Durrant answered on 10 Jul 2020:

      Hey Naomi, that’s a great question! Those who suspect they may have or carry a genetic disease can be referred for genetic testing. This will identify the faulty gene and the condition it is related to. Once the result comes in, the individual(s) would then be referred to a genetic counsellor to discuss the nature of the identified disease and how it will affect aspects of their life, including their own health, their family’s health and decisions surrounding having children. Because some diseases have very apparent and observable physical traits (or phenotypes), genetic testing and counselling is mostly used to diagnose rare genetic diseases, or those that do not produce obvious phenotypes. In the future, genetic testing could also allow for the design of personalised medicines, whereby gene editing tools like CRISPR could be used to specifically target the faulty gene and repair it to restore the healthy version. Even more optimistically, this technology could be used in germline cells (eggs and sperm) to reduce the risk of an individual passing on a faulty gene to their offspring. This is a very hypothetical concept at the moment though, as there are many obstacles to overcome before gene editing can be used in this way!
      I hope that answers your question 🙂 Here’s a link to a page on the NHS website that discusses genetic and genomic testing if you would like to know more.
      https://www.nhs.uk/conditions/genetic-and-genomic-testing/

Comments

  • Photo: anon-258367

    anon-258367 commented on :

    Hi, Naomi’s mum here. Thanks for your response and for taking part in this excellent initiative. I hope you don’t mind me giving you some feedback. The language you have used is WAY above what an average 10 year old could hope to understand (and some kids using this site are younger). I put your reply through a language tester and it came back that it was ‘difficult to read’ and understandable by college graduates. You can test if for yourself, if you want, at https://readabilityformulas.com/free-readability-formula-tests.php
    Science communication for kids really does need to be about communication. Cut out words like ‘hypothetical concept’ (how about ‘just an idea’?), ‘apparent and observable physical traits’ (i.e. how people look) and all of the jargon. Thanks!

    • Photo: Chloe

      Chloe commented on :

      Hi there Naomi’s mum, us scientists do not know the age of the children asking the questions so try to answer them the best we can, the children can always reply to our answers to ask for clarity. I hope Laura does not mind me having a go a simplifying her answer for you, I have been through genetic testing and have little to no knowledge on genetics. I was referred for testing because a relative had a faulty gene. When I was tested, I was asked to provide a sample of DNA, for me it was some of my blood, but it can also be saliva. Your sample then goes off to a lab where scientists like Laura look at the genes and see if any are different to what they should be. When I got my results back, I was sent to a counsellor to talk about what my results meant and how to manage the risks associated with having a faulty gene. I hope this helps.

  • Photo: Laura

    Laura commented on :

    Hi Naomi’s mum. My apologies! Like Chloe said, we are not made aware of the student’s age or year group when they submit a comment. And I was very impressed by the question asked, so assumed perhaps Naomi was a bit older or in a older year group. Chloe’s experience with genetic testing summarises my previous answer perfectly though, so thank you Chloe for providing that. I hope her response clarified everything for you, Naomi 😊