• Published:November 8th, 2008
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• Category:Uncategorized

Many PHG Foundation staff are also members of the Society for Genomics, Policy and Population Health (SGPPH), and attended the third annual general meeting (AGM) in London yesterday. Attendees came from a wide range of different backgrounds, from clinicians and laboratory scientists through to policy-makers and health commissioners, and the programme included perspectives on different forms of screening. Dr Jim Bonham, who spoke about newborn bloodspot screening, gave a very interesting historical background to the introduction of the practice. This included the story of how the genetic disorder phenylketonuria (PKU) was discovered in the twentieth century.

For those who have never heard of this recessively inherited genetic disorder, it prevents an enzyme involved in the normal metabolism of the amino acid phenylalanine from functioning, leading to gradual irreversible mental retardation due to the accumulation of phenylalanine. First characterised in 1934 by Norwegian doctor Asbjorn Folling - thanks in no small part to the efforts of the mother of two affected children - an effective treatment was determined by German doctor Horst Bickel in the 1950s. It was particularly diverting to hear how he not only placed an affected child (17-month old Sheila Jones) on a phenylalanine-free diet as an experimental treatment, but also checked his hypothesis by surreptitiously reintroducing a source of phenylalanine, leading poor Mrs Jones to return and report in distress that the child had ceased to make progress. Medical ethics has come on a long way since then!

It is sobering to reflect that this highly unethical experiment confirmed that careful restriction of dietary phenylalanine intake during infancy and childhood can prevent the mental retardation otherwise associated with PKU…Similarly, English doctor Edward Jenner is renowned for his discovery that vaccination with a related but relatively innocuous virus causing the disease cowpox was protective against the devastating disease smallpox. This began a process that eventually led to the development of a safe and effective vaccine, and the official global eradication of smallpox in 1980, a good day for public health. However, we would now consider Jenner’s method of testing his hypothesis (injecting a small boy with cowpox and subsequently exposing him to smallpox!) to be, in ethical terms, completely out of order.

Anyway, today in most developed countries, small bloodspot samples from newborn babies are screened for selected forms of genetic disease for which early diagnosis can prevent or ameliorate mortality (death) or morbidity (disease and disability). And yet ethical questions remain, some of which came up at the SGPPH meeting, based around the capacity of newborn screening to enact great good in terms of infant health, but potentially also some harm. For example, the issue of requiring informed parental consent for a procedure intended to benefit an infant; whose rights should be paramount here, those of the child, or of the parent? And is it ethical to test for conditions for which there is no effective treatment? There are arguments in favour of prompt diagnosis, if only to spare a child from extensive clinical investigations and inform the family in time for them to consider reproductive options for future children. Some countries, notably the US, include many more conditions on their panel of diseases for newborn screening than the UK does, but this could potentially lead to situations where the family know what is wrong with the child and a treatment exists - but is financially unaffordable.

On the whole, my own preference is for a society where we do give appropriate consideration to ethical issues in medicine; indeed, public health genomics emphasises the need for responsible applications of genomic knowledge to improve health. But I have to admit, it makes medical research and practice a whole lot more problematic.