Genetic testing—swings and roundabouts: a view from the United Kingdom
- Academic Unit of Ophthalmology, University of Manchester, Manchester Royal Eye Hospital, Oxford Road, Manchester M13 9WH, UK
- Academic Unit of Medical Genetics and Regional Genetics Service, University of Manchester, St Mary's Hospital, Manchester M13 0JH, UK
- Academic Unit of Ophthalmology, University of Manchester, Manchester Royal Eye Hospital, Oxford Road, Manchester M13 9WH, UK
- Academic Unit of Medical Genetics and Regional Genetics Service, University of Manchester, St Mary's Hospital, Manchester M13 0JH, UK
- Dr Black
“With this profound new knowledge humankind is on the verge of gaining immense new power to heal. Genome science will have a real impact on all our lives, and even more on the lives of our children. It will revolutionise the diagnosis, prevention and treatment of most, if not all, human diseases.”Ex-President Bill Clinton, announcing the completion of the first draft of the human genome, 26 June 2000 with Prime Minister
Blair.12
Ignoring the hype, this was a genuinely monumental achievement, notwithstanding that the map remains in draft form. However, many clinicians remain sceptical about the real benefits for patients. Molecular geneticists have been predicting “significant advances” for years and, despite identifying numerous genes underlying rare disorders, their efforts have shed little light on commoner disorders such as heart disease, glaucoma, and macular degeneration. Sadly, the impact of recent genetic advances on the general ophthalmic communityhas been small, in spite of rising expectations on the part of the media and patients. Sceptics would argue that much has been done for the glory of research and researchers rather than for the furtherance of patient care.
So what are the possibilities for the future? Have expectations been raised unreasonably or will genuine clinical benefits accrue in due course?
Molecular genetic testing in a nutshell
An increasing number of genes responsible for inherited ophthalmic conditions are being cloned. It is often assumed—in particular by patients and their families—that gene identification is followed by routinely available genetic testing; this is not the case. The time lag leads to a significant gulf between the expectations of patients and the ability of the clinician to fulfil these expectations. There are a number of factors to consider:
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Screening for mutations in most genes is currently a labour intensive and time consuming process which …
