Cancer, genetics, and caring




Early in 2015, a paper in Science argued that in the course of normal stem-cell divisions there is always a risk of random mutations during DNA replication and, based on this mathematical risk, developing cancer may simply be bad luck. Tomasetti and Vogelstein had shown a strong correlation (0.81) with the total number of divisions of the normal self-renewing cells with some cancers and suggested that only a third of the variation in cancer risk was attributable to environmental factors or inherited predispositions.

Just a few weeks ago, a paper in Nature directly countered this proposal arguing that correlation wasn’t sufficient to explain risk and based their argument on modelling, epidemiology and mutational fingerprints. While we know a lot about cancer risk, we still don’t know exactly what causes it. I enjoyed this debate. We still have a lot to learn.

Could genome-editing technology offer health benefits and what are the ethical issues? The widespread optimism that gene mapping would offer great insight into disease risk was premature and we still struggle with the balance between genotype and phenotype. Genetic research has, however, continued to explore a number of diagnostic and therapeutic areas, and my attention was drawn towards recently towards gene editing, its potential and ethical concerns, in a flurry of articles in the media relating to Crispr - including the New York Times, the Financial Times, and and an interview in Nature with Jennifer Doudna, one of the key researchers.

In contrast to the excitement of scientific debate, discovery and controversy, my 2015 ended with two family funerals in the week before Christmas. The Irish funeral is a wonderful event where religion and tradition overlap, giving family and friends an opportunity to share memories, swap stories and remember loved ones in a curious blend of prayer, celebration and sadness. It’s always lovely to catch up with our wider family although it’s a pity that it takes a death to bring everyone together. The two deaths, of an older aunt and uncle were very different. One had been ill for many years with multiple hospital admissions and ongoing continuous care from her general practitioner and extended primary care team. The other was an emergency admission followed by a short period of time in intensive care on a ventilator. I listened carefully to relatives describe their experiences of medical care in different parts of the country and despite the very different clinical scenarios there was, happily, a common theme- the care, kindness, and respect offered by our medical colleagues to both families on each occasion. While clinical scientists, researchers and, indeed, medical journals focus on the forefront of medicine, trying to publish the very latest scientific advance, it is the kindness and sensitivity within medicine that stills makes the greatest difference to patients and their families at the end of life. Let’s look forward to a New Year of exciting scientific discovery while still remembering what really matters. *Cum Scientia Caritas. Compassion with knowledge.

*Cum Scientia Caritas is the motto of the Royal College of General Practitioners, London, UK


One thought on “Cancer, genetics, and caring

  1. clare

    I have lung cancer….I smoked for a few years ….40 years ago….I do not believe that is the cause of this lung cancer….I live close to the ocean now where the air is relatively cleaner than any where except that I live under the traffic from an international airport and we know that there are deposits from that requiring our sidewalks be hosed down on a regular basis to keep them looking new despite being coated with something that should help……….we do and have exercised in the out doors either gardening cycling or walking at least one hour a day for the last 40 years….I am not obese and have no other health issures until lung cancer hit


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