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Interview with Shane McKee, a clinical geneticist (part two)

The second part of the interview with Dr Shane McKee, clinical geneticist.

  • What do you think about prevention? What conditions, disorders are screened in your country?

Many of the disorders we see (particularly some of the congenital abnormalities) are not “preventable”, although the big exception to this would the use of folic acid to prevent neural tube defects such as spina bifida. Prenatal diagnosis is available for a wide variety of serious genetic disorders, such as Down syndrome, Hurler syndrome, I-cell disease (as mentioned above), and many other conditions. We also refer to teams in England where appropriate for preimplantation genetic diagnosis (PGD), where genetic diagnosis can often be made by taking a single cell from an IVF embryo. Screening is a bit more difficult, but at the moment we routinely screen in the neonatal period for PKU, CF and hypothyroidism, in common with many regions in the UK.

  • What kind of results do you expect from the near future in clinical genetics?

I think we are heading rapidly towards a much deeper understanding of the genome, and its role in human disease – particularly the “common” disorders that don’t usually come our way in genetics, such as heart disease, diabetes, dementia, etc. I also think that as we understand all these diseases more, we will be able to start treating them more effectively. However, this is likely to be very expensive for some disorders, so there are many public health priorities that need to be sorted out. Rare disorders affect a very large number of people – I sometimes joke to the medical students that “common things are common, but rare things are even more common!” All doctors will need to have at least some understanding of genetics and human biology. It amazes me that many medical school students have very little knowledge of the most fundamental principles of biology, particularly evolution. Genetics has already revolutionised that, and the genomes of many species are now available for free on-line. This is a spectacular resource, and all the more thrilling when you realise how close we came to having the whole thing in the hands of greedy private companies. I would strongly recommend that people read “The Common Thread” by Sir John Sulston (who shared the Nobel Prize for his efforts), which gives a startling insight into the attitude of some towards humanity’s common inheritance. I think we are also moving towards treatments for diseases like Huntington’s Disease and Duchenne Muscular Dystrophy – in 20 years’ time I would like to be able to use such treatments to radically alter the type of medicine I practice! That is going to take a significant degree of research and investment.

  • Do you use Wikipedia as a source of information?

Actually, I don’t generally use Wikipedia for specific information, because many of the disorders I deal with are too rare, and the information on Wikipedia is not rigorously peer-reviewed. However, there are several very useful databases that I regularly use for information, such as OMIM (“On-line Mendelian Inheritance in Man”, hosted by the NCBI: www.ncbi.nlm.nih.gov), the London Dysmorphology Database (very useful for looking up syndromes), Ensembl (www.ensembl.org), GeneReviews (www.genetests.org), and the UK Genetic Testing Network (www.ukgtn.nhs.uk/gtn). There are others of course, and it is very important to keep abreast of latest developments. I tend to hit PubMed very frequently, as things in this specialty can change very quickly – you might read in a journal about the gene for some condition being found, then the next day a patient with the condition can walk into your clinic.

Dear Shane McKee, thank you very much again for the answers. I was surprised by the newborn screening of your region. Here, we also screen for biotinidase defect and galactosaemia, but we can’t screen for CF. It’s always great to learn about other countries’ systems.

By the way, I hope we can improve the health related articles in Wikipedia in order to get the attention of experts like Dr. McKee.


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3 Comments Post a comment
  1. tammy #

    Hi,
    I am wondering how long Ireland has been screening newborns for CF and if it is mandated or a pilot project? Newborn screening for CF is relatively new in Canada – Alberta recently added newborn screening for CF (April) to their standard program and Ontario has announced that they will add CF later this year.

    June 8, 2007
  2. Good question, I hope that Dr. McKee will take a look at it.

    Anyway, you can find more newborn screening-related interviews under the Blogteriew button above.

    Thanks for dropping by.

    June 8, 2007
  3. Shane McKee #

    We’ve been screening for CF for quite a number of years now. We use the “Guthrie” heel prick spot, and assay the level of immunoreactive trypsin (IRT) as the first line, and then sweat tests +/- mutation testing as a second level. It’s very effective. Our population incidence of CF is approximately 1/2200, and the vast majority of neonates will be picked up this way.
    This early detection is already translating itself into improved services for patients and their families, as well as health and survival.

    [Bertalan - you need to have a link to the Respectful Insolence blog: http://scienceblogs.com/insolence - a brilliant medical blog!]

    August 17, 2007

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