BioNews 1000: Looking back at the last 20 years, and forward to the next 20
Professor Marcus Pembrey and Dr Jess Buxton
Progress Educational Trust03 June 2019
Professor Marcus Pembrey (Founding Chair and current Patron of Progress Educational Trust) and Dr Jess Buxton (BioNews genetics editor 2000-2009 and current Trustee) reflect on 20 years of BioNews and its unrivalled coverage of scientific, legal and ethical developments in the fields of human genetics and assisted conception.
MP: After the successful lobbying by the Progress Campaign and others to achieve a Human Fertilisation and Embryology (HFE) Act in 1990 that put helping families facing infertility as the primary concern, it became clear that public engagement would become increasingly important. As we discussed the idea of an educational trust, it was the late Professor Anne McLaren who suggested that such an organisation should also cover advances in genetics and the ethical issues they raise. Thus, when the Progress Educational Trust (PET) was established in 1992, its mission was to inform debate on assisted conception and genetics.
It was for Juliet Tizzard, PET's director for the first ten years, to orchestrate the charity's public engagement. This initially included a print magazine, Progress in Reproduction, which was published quarterly between 1997 and 2002. The BioNews email newsletter was launched on 22 March 1999. It soon became PET's flagship publication.
The symbiotic relationship between BioNews and PET has been crucial to the success and indeed survival of both. During much of the last 20 years PET's funding has been precarious, never more so than in 2006. This led PET's Trustees, chaired at that time by David Whittingham, to announce on 22 January 2007 that PET's activities would have to cease. But the BioNews team came to the rescue, with part-time editors Dr Jess Buxton and Dr Kirsty Horsey working on an entirely voluntary basis until future funding could be secured.
I took over as Chair of Trustees again and following a successful appeal and generous donations from our supporters, we published BioNews 400 with a commentary titled 'BioNews celebrates its 400th issue and Progress Educational Trust is revived'. PET continued to recover, such that by BioNews 450, I was able to tell a very different story, with the commentary focusing on the new HFE bill as it headed from the Lords to the House of Commons – PET's proper business.
The year 2008 saw Sarah Norcross take over the helm as PET director, and Sandy Starr (now deputy director) begin working as the charity's communications manager. Their combined commitment, energy and vision have ensured that PET has continued to go from strength to strength, recently winning funding from the Wellcome Trust for a major overhaul of PET's online presence.
What of new developments that fall within BioNews' aim to inform debate on the responsible application of reproductive and genetic science? One common belief among those who claim that 'inheritance is all in the DNA', is that all you need to discover the genetic basis of inheritance is greater and greater numbers of study participants to increase statistical power. And if those numbers can be made up of identical and non-identical twin pairs, so much the better. But this belief is coming under increasing scrutiny.
One of the largest studies of this kind comes from a study of sex differences in the heritability of common, complex traits and diseases: Stringer and colleagues looked at 2,335,920 twin pairs. Why not, in this age of Big Data and massive computing power? But even though such sex differences are known to exist, this study could only account for 3 percent of the heritability. Maybe it is time for the conventional wisdom of inheritance to be challenged.
There is mounting evidence that cross-generational influences of parental and grandparental early life experiences is a non-trivial contribution to (non-genetic) biological inheritance that affects early development of the offspring. Furthermore, such intergenerational associations commonly show sex-specific differences in transmission or outcomes in the subsequent generations. These developments in non-genetic inheritance and critical discussion of the potential role of epigenetic regulation of gene activity have been covered in BioNews over the last decade.
So in this age of Big Data, small can still be beautiful. PET is a small outfit, but extremely nimble in using its huge network of contacts and information sources. Long may it continue. Congratulations to BioNews and all who sail in her.
JB: It was after taking part in a TV phone-in following a programme on human genetics, aired in the early 1990s, that I first fully appreciated the need for scientists to effectively communicate their findings if patients are to benefit from new discoveries. We received call after call from people affected by genetic conditions, desperate for more information about the serious health problems affecting themselves or family members.
At the same time, newspaper headlines frequently overhyped the possibilities – or worse, focused on the potential misuse – of advances in genetics and reproductive science. Taking up the role of BioNews editor in 2000 (issue 45) was an exciting and unique opportunity to contribute to informing the debate in these fast-moving and frequently controversial areas of science.
Back in the early days, myself and BioNews' reproduction editor Dr Kirsty Horsey spent many hours trawling through printed academic journals and newspapers for stories, comparing our piles of press coverage to the original studies and reports. We then aimed to write short, accurate summaries of new scientific developments and their ethical and legal implications. Though the sources and format of the BioNews newsletter have evolved since the early days, the overall goal has remained the same – to provide a weekly digest of informed news and comment, a clearly written and trustworthy source of information. After almost ten happy years as genetics editor, I returned to academia in 2009 and have since relied on BioNews arriving in my inbox every Monday to keep up with new developments.
Crystal-ball gazing in any area of science is challenging, and it's very easy to get caught up in the buzz surrounding the rapid technological advances in genetics in the last 15-20 years. But ignoring all the hype, human genetics is still essentially all about families – using scientific knowledge to enable better diagnosis, treatment and care of people affected by genetic conditions. This is reflected in PET's logo, which incorporates three of the symbols used in a pedigree diagram (a genetic family tree), and the charity's vision to improve choices for people affected by infertility or genetic conditions.
The first human genome to be completely sequenced was actually a composite of genomes from several anonymous volunteers, data which was used to define the 'reference' human genome unveiled at the start of the millennium. That took 13 years and cost US$3 billion (£2.4bn), whereas now a slimmed down genome sequence analysis can cost as little as US$1000 and be completed in a matter of weeks. However, the interpretation of all this information requires time and money – this, coupled with the need for genetic counselling, makes the actual costs of genome analysis much higher. Advances in genomic medicine offer great hope but also raise a raft of ethical, practical and scientific challenges, important debates that BioNews continues to follow.
In addition to genomics and epigenetics, the next 20 years are likely to see continued advances in areas including genome editing, in vitro gametogenesis (IVG) and synthetic human entities with embryo-like features (SHEEFs). I look forward to reading all about them in BioNews.
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Reproduced with permission from BioNews, an email and online sources of news, information and comment on assisted reproduction and genetics.