Article Text

Cyril Clarke, Journal of Medical Genetics, and the foundation of clinical genetics

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    Cyril Clarke became editor of Journal of Medical Genetics in 1969, five years after its inception, and he continued to edit it for the next 15 years. A glance at both the content and the editorial board members of the Journal in those early years shows the range and quality of its content and the calibre and diversity of those he enlisted in running it. Basic science and clinical expertise were well balanced, setting the pattern for the future. When I succeeded him as editor in 1985, it was indeed a hard act to follow.

    Cyril's great age (93 at his death) means that most people working in the field now will have little direct (or perhaps even indirect) knowledge of his key role in founding and shaping what is now the specialty of Medical Genetics. His natural shyness and reticence have added to this, and while his autobiographical notes, written at the age of 88 and published as “88 years of this and that”1 are a delight to read, they are typically unassuming and light hearted.

    Like most people of true genius, he was far ahead of his time; I have only recently come to realise how far ahead. He believed passionately that genetics should form part of all medical practice and thinking; only now, with the understanding of the genetic component of common diseases, is this beginning to happen and still only to a limited extent.

    As an adult general physician he saw genetics as applying equally to all age groups, not just as a paediatric interest. A direct result of this has been the development of UK Clinical Genetics as a balanced specialty with recruits from both adult and paediatric medicine, in sharp contrast to most of continental Europe and Australia. Most of those who worked with Cyril (“trained” would not be quite the right word) and who went on to found departments in the UK and North America came from and kept links with adult medicine, the value of which is now being appreciated. The close link with Victor McKusick's Baltimore department reinforced this.

    Equally ahead of his time was Cyril's recognition that “model organisms”, as they are now considered, could be used directly to gain insights into human disease. Although a number of the pioneer geneticists were keenly interested in both human disorders and basic genetics, none was a practising clinician. Many of the insights to be found in his book “Genetics for the clinician”2 remain as relevant today as when it was written almost 40 years ago. His Lepidoptera may not have been the most orthodox choice for model organisms, but at that time their population genetics and evolutionary biology were much better documented than that ofDrosophila (and he would undoubtedly have commented that they were much more fun to work with!). His partnership with Phillip Sheppard, whom he persuaded to move to Liverpool from the Oxford School of Evolutionary Genetics, was crucial in developing this basic work and in ensuring that it kept a vigorous scientific basis.

    Cyril's lasting scientific reputation will rightly rest on the prevention of rhesus haemolytic disease by immunological approaches, work of remarkable originality that should logically have come from basic scientists, paediatricians, or obstetricians rather than from a clinician quite unconnected with the field. Again, this immense success of “genetic therapy” was far ahead of any other applications, to the extent that it is often no longer regarded as a “genetic” success and is increasingly taken for granted. The book in which he brought together all the key papers deserves to be better known.3

    How Cyril Clarke managed to achieve all of this from a background of “ordinary” general medicine and in a provincial university academic base is to me both extraordinary and inexplicable. Anyone who had the pleasure of working in the David Lewis Northern Hospital in Liverpool (whose initial impressions in the 1960s could be best described as Dickensian) would agree that it was not the natural nurturing ground for academic genius. Furthermore, Cyril only switched to academic medicine at the age of 50 and undertook all his key research over the next 15 years, a “late developer” if ever there was one.

    An equal puzzle is how he was able to remain part of the “medical establishment”, becoming President of the Royal College of Physicians on retiring from the Liverpool Chair of Medicine. It would be good to imagine that this in some way reflected success in persuading the College that genetics was important in medicine, but sadly I do not think that was the case. They certainly recognised his scientific talent and his Rh work, but few of his contemporaries there understood his ideas, even to a limited degree, and his “butterfly work” was, I suspect, tolerated as the pastime of an otherwise great man rather than appreciated for its scientific merit.

    Anyone who, like myself, had the privilege of working in Liverpool with Cyril Clarke, was fundamentally influenced by the experience and also by the friendship and support that characterised his whole department. In my own case, both friendship and scientific contact continued over the next 30 years (in late 1997 I received with a note his latest reprint on population genetics4 written aged 90!). Only after losing his dearly loved wife Féo, two years ago, did his own health rapidly decline.

    Cyril Clarke's death does indeed, as David Weatherall states, mark the end of an era. Fortunately, though, his influence lives on in the field of Medical Genetics today with its vigorous combination of clinical and scientific facets and its increasingly appreciated relevance both to inherited disorders and to the whole of medicine.