Blog

Ethical issues and newborn screening

by philippa.brice

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.

Socialising with social scientists

by philippa.brice

At the beginning of this week, several members of the PHG Foundation team attended the Economic and Social Research Council (ESRC) conference in London Genomics and Society: Reinventing Life? The conference was to examine the question of whether society is able to  keep pace with current and future developments in genomics, and the possible implications of different applications. Topics examined on day one included the protection of biological information, directions and impacts of innovation (including in developing countries) and public engagement. Day two focused on the impact of regulation on innovation.

The meeting attracted a much broader set of delegates than a purely scientific conference; advertised as appealing to “policy makers, academic researchers, industry, media and NGO representatives and citizens’ groups”, it was reported to be “full of social scientists”. So, what is it that interests social scientists in the area of genomics? Speed-dating: young researchers (anyone under 30, I would guess) were invited to participate in a special speed-dating networking exercise. Dr Sowmiya Moorthie reported having met a good mixture of researchers from all sorts of disciplines, not only the social sciences but also politics and international development, and they were found to have rather more social skills than your average scientist (not all that difficult).

For those to whom the social sciences are relatively unknown, try the illuminating explanation of What Social Scientists Do provided by the ESRC; it is, apparently, a “hectic but fulfilling” life! They define social science as the study of society and the manner in which people behave and impact on the world around us. More practically, it encompasses topics including sociology, psychology, political science and economics. More to the point for those of us with biological science backgrounds, it does not involve working with biohazardous materials or radioactivity, so that it is not incompatible with a tendency to suck your pen (really not a good idea in a laboratory). In fact, for any lab rats who are interested in science policy, regulation or related areas and looking for a career where they could drink coffee at their desk without violating health and safety regulations, you could do worse. Actually understanding the science is essential for a proper consideration of impact on society, and this really is a lot easier if you’ve done it.

For future opportunities to consider some of the social implications of genomics, coming up soon on 6th November is the annual general meeting of the Society for Genomics, Policy and Population Health (SGPPH), where the PHG Foundation will again be well represented. This year’s topic is Genetic Screening: New Opportunities, New Challenges, New Attitudes, when we can expect to hear from speakers including Mark Henderson (Science editor of The Times and a serious contender with Ben Goldacre for the accolade Our Favourite Journalist) who will be speaking on Whole population genetic screening: fact or fiction? The SGPPH is another group that brings together geneticists and public health experts with lawyers, philosophers, social scientists and policy makers. Although as far as I am aware, it has yet to go into speed-dating.

Beating bad science: embracing evidence

by philippa.brice

Yesterday, PHG Foundation project manager Caroline Wright went to a public lecture in Cambridge by Ben Goldacre, who writes the Bad Science weblog for the Guardian. She gave us a glowing account of How the media promote the public misunderstanding of science, leading us to the conclusion that he talks good sense. In particular, he talked about how the media frequently contributes to public misunderstanding of science because of what they choose to report, and how they do it (see Don’t dumb me down for a similar discussion).

Don’t get us wrong, we are not anti-science journalist; why, some of our best friends are science journalists, and they are often well informed (especially if they talk to us). True, not all that many are from a medical or scientific background originally (though Ben Goldacre himself is a practising doctor), but that isn’t a barrier to effective science journalism. Indeed, it may actively help in translating advances into terms that people without science training can easily comprehend. However, editors, it would seem - who generally don’t come from science backgrounds - are not too concerned with what is shown by reliable evidence to be true, but are very interested indeed by what makes good headlines. So, for example, the enduring furore over the MMR vaccine sparked by Andrew Wakefield’s highly questionable paper in the Lancet scored poorly in terms of supporting evidence, but highly in terms of provoking public concern. Similarly the assertion that vitamin C is superior to azathioprine (AZT) for the treatment of HIV infections (it isn’t).

Evidence, whilst of fundamental importance to scientists, is a concept that seems to be poorly understood in general. The bottom line is that all results are not equal; in fact they are very far from it. Any fool can conduct an experiment or gather a small series of cases and advance it as ‘evidence’ in support of a theory, but real evidence only comes from rigorous studies with reliable and reproducible results. These tend to include a selection of the following: independent studies, replicated findings, large numbers, good experimental design, respected scientists (with real and relevant qualifications - but don’t get me, or Ben Goldacre, started on that one…), and peer-reviewed literature. Contrast this with some bloke with a degree he bought over the internet doing dodgy experiments in his garden shed; he may be on to something, but it would be unwise to accept his theories without additional evidence.

The public can be seriously misled by reporting of science that fails to consider the quality of its sources. This is why consulting reputable (as opposed to self-styled) experts is always wise. Our take-home message today? We like evidence-based reporting, as well as evidence-based medicine. Oh, and Ben Goldacre.

Choices and Challenges of Reproductive Health

by philippa.brice

Team member Dr Sowmiya Moorthie attended the annual conference of the Genetic Interest Group (GIG) earlier this week, on the theme of Choices and Challenges of Reproductive Health. Presentations included an account of new genomic technologies for prenatal diagnosis, ethical challenges they pose, and different perspectives on reproductive choice related to genetic diseases. PHG Foundation Programme Director Dr Hilary Burton gave the keynote presentation, discussing the opportunities and barriers offered by genetics for both reproductive health in particular, and mainstream medicine more generally.

Discussion apparently ranged from addressing practical issues such as how best to help people to make challenging choices or to increase awareness of genetics in health care, to philosophical questions on what it is to be human (something your average scientist or policy-maker hasn’t always considered in great detail, I would say).

Dr Moorthie, who is one of the more recent additions to the PHG Foundation staff, was struck by the requirements for getting promising biomedical innovations into practice in the health service, ranging from demonstration that the new technology is actually beneficial, to consideration of how to regulate it and to address issues it may raise with respect to societal and individual moral and ethical beliefs.

Overall, she reported that it had been a “very enlightening day, and a great way to meet lots of people from a wide range of societies and learn about inherited disorders I hadn’t known about before, how people are affected by them and how biomedical research can be of benefit to them”. Unfortunately, she also had a bad experience with a meat-based sandwich masquerading as vegetarian; but - as with engaging with ethical and social issues relating to genetics and health - we sometimes just have to step outside our comfort zones.

Safer testing for Down Syndrome?

by philippa.brice

There has been a lot of media coverage about a new and safer form of antenatal testing for Down Syndrome this week. As devoted readers of the web pages about our work and / or our wonderful Genomics and Policy news will be aware, we have a major project in this area so we really do know what we’re talking about on this one.

What is all this about safer testing then? At present, diagnosis of genetic or chromosomal disease in an unborn fetus generally requires an invasive test (think big needles) to sample fetal cells from the placenta or the amniotic fluid that surrounds the fetus; DNA from these cells is then analysed in the laboratory. Not only is the whole big needle thing not hugely appealing (and requires an expert to perform it), but it also causes miscarriage in 0.5-2% of cases. So women who know the fetus is at high risk of having a specific disease and want to know whether or not it is affected have a difficult decision to make. However, ‘non-invasive’ testing from a sample of the mother’s blood would carry no risk of miscarriage and therefore be a much better option, although I’m told that waiting for the test results is the worst part, and that wouldn’t change.

The latest media attention is because of new research from Stanford University in the US, with the publication of a promising new approach to diagnosing Down Syndrome and similar chromosomal disorders from maternal blood. But others around the world (including in the UK) are working on different techniques, and investigating alternative uses for the test, such as identifying mutations associated with rare genetic diseases.

This is a great example of how innovation could produce medical benefits. But before we all go and get pregnant and rush to our doctors asking for testing, a note of warning: it needs a lot more evaluation yet to see whether it is reliable enough to use in routine care, and to consider the potential implications of using a different type of testing. Fortunately, we have a whole team here that has been working with the right people (doctors, midwives, geneticists, patient advocates and so on) to suggest a sensible way forward. More on this with our project report in January 2009! And meanwhile, back to the grindstone…

Pushing public and patient participation

by philippa.brice

On 1st October our Development Director Shelley Gregory-Jones and I attended an evening event to promote public and patient involvement in biomedical research at the beautiful shiny new Cancer Research UK Cambridge Research Institute (CRI), which is just down the road from our own base in the Strangeways Research Laboratory. Of course, we are not engaged in biomedical research ourselves, but we are strongly in favour of it, and it was also chance to publicise the PHG Foundation to a wider audience than usual and talk to different people.

A recent editorial in the journal Science calls for decisive action from the scientific community to boost public support and involvement for health research in the way that climate change became an issue of general public concern and interest (see A Populist Movement for Health?), so perhaps public involvement will become the ‘in’ thing. Not before time, either - I don’t think that the general public knows enough about biomedical research, and it would be great counter that through increasing involvement as well as educational efforts, which can risk giving the impression of Nasty Science Homework. But who better to involve in efforts to improve public health than the public? As the authors say: “In part, the science community is responsible because we have not effectively helped the public realize that without a higher national and international priority for basic research, a crisis in human health is not far off”.

The programme of talks at the CRI evening emphasised the importance of translational research in delivering improved health and the need for funding in this area - which fitted in perfectly with our own position of calling for more resources for the ‘end-stage’ of translation - not translational research or even health-services research, but policy development and implementation planning. Translation often comes across less compelling than the pushing-the-boundaries-of-knowledge basic research reported, but it is absolutely crucial for delivering the benefits of scientific research, which at the end of the day is what the public wants to see: quicker diagnosis, more effective treatment, and better health.

Cambridge is a great place for top-level research, so unsurprisingly there were some interesting talks and stands, including groups hoping to recruit public volunteers to take part in various clinical trials. But my personal feeling was that the obesity researchers who had a selection of cakes on their stand ought to be done for unreasonable enticement.

Genetics gets together

by philippa.brice

Welcome to the PHG Foundation blog.

Different parts of the website can fill you in on our major aims and projects based around deriving better health for people and populations from biomedical advances, particularly human genetics and genomics. This blog is an opportunity to mention some more behind-the-scenes stuff.

We don’t spend all our time in our offices in Cambridge. Last week three of our team attended the British Society of Human Genetics (BSHG) annual meeting at the University of York, where there are some very nice ducks and other water birds. Possibly more to the point, they also have spacious lecture theatres, making it an excellent place for people from different branches of genetics to come together and discuss progress and plans. This includes specialists in clinical and molecular genetics and a whole host of others, including people who work in policy, ethics, law, regulation, health economics, education and other areas related to genetics and genomics. Not surprisingly there are all sorts of smaller meetings in addition to the scientific programme, and lots of opportunities for informal networking.

There are also poster presentations and trade stands, mostly exhibiting glossy brochures and funky laboratory equipment, liberally strewn with sweets, pens and post-it notes to tempt poor scientists to take a closer look. We took along several posters about our work for people to inspect, and for the first time this year we also had a trade stand so they could find out more about us, or in some cases just boost their blood sugar with chocolate before taking in another batch of lectures.

I certainly enjoyed meeting some new people and telling them about what we do, and I also realised that a key component of effective scientific communication is: close proximity to the coffee supplies.

PHG Foundation exhibition stand

PHG Foundation exhibition stand