Genomics Forum blogging team at the Edinburgh International Book Festival 2012
Blog by Hazel McHaffie
Genomics - essentially the study of all the genes of a cell or tissue at the DNA level - is a relatively new field of enquiry. And it's been said that the map of the human genome is 'the most wondrous map ever produced by humankind'. It has certainly raised huge questions for society, and the knowledge it provides has widespread consequences for individuals, for families and for society.
Lone Frank is an internationally acclaimed Danish science writer with a PhD in neurobiology, who has grappled with these questions, and written a fascinating book, My Beautiful Genome: Exposing our Genetic Future One Quirk at a Time. To see her is to instantly think that she's been blessed with more than her fair share of favourable genes - good looks and brains, performance skills as well as rigorous analytical powers.
The elements were against us on this occasion with rain thundering down on the roof of the Book Festival’s theatre, and a rather end-of-term feeling on this last day of the Book Festival. She though, was probably less surprised by the fact the event was not a sell out: when she proposed writing a book on this subject, friends warned her that nobody would be interested in genomics. On the contrary, people are, and the questions reflected considerable knowledge of her field. She was challenged more than once to explain her terms and the accuracy of her statements. My own limited understanding means I can only report what I've gleaned from her words and her book.
At the moment, consumer genetics 'is portrayed as a panacea for the plague of diseases, a cornucopia of health and prevention - with the Holy Grail being the advent of personalized medicine, tailor-made for your individual genes.' Whilst illness is indeed an important aspect of genetics, it's only part of the picture. Frank attempts to present a more rounded whole. She predicts that 'over the next decade, genetics will become as familiar to us as the personal computer'. I suspect most of us have a long way to go to achieve an agreeable level of comfort with it.
The first half of My Beautiful Genome is an intensely personal and intimate account, reading much like a novel, because Frank allowed herself to be a research subject, putting her own and her family's genetic make-up under scrutiny - no easy task given their history of depression, mental illness, alcohol problems, and breast cancer. Indeed the event chairman, Steve Yearley, Director of The ESRC Genomics Research and Policy Forum, said he knew more about her than about some of his best friends! But this personal approach leads nicely into the broader applications emerging from discussions with an impressive array of scientists from around the world whom she's interviewed.
The end result is a book that is at once accessible, engaging, informative and intriguing. Along with various genes, the author confesses she's inherited a sarcasm and brutal honesty that sometimes get her into trouble. But they also contribute to a bracing and unpretentious style of writing. How about this for a withering aside to a pompous boss: 'Whether you are a flu virus, a slime mould, a manatee, or a manager, your genetic code contains the same components'? Or this to prick an over-inflated ego: 'human beings share ninety-eight percent of their genome with a screeching chimpanzee, sixty percent with a skittering mouse, and even twenty percent with a lowly roundworm a millimetre long'?
And her honesty means she doesn't shirk the difficult questions about the consequences of biological fortune-telling. There were times when I felt decidedly genetically challenged, but Frank is at pains to debunk the mysteries and make the subject accessible. It's reassuring to learn that she too found these things complicated; it took time to understand them and gain perspective on the results. She too had to learn that consumer genetics isn't about checking your genes for a genetic diagnosis of specific diseases like diabetes, cardiovascular illnesses, or Alzheimer's. Rather it's a risk assessment; a collection of indicators that compare your chances of getting a disease against the same risk in the general population.
There are many ethicists, social scientists, and commentators, who advocate strongly against ordinary people being given access to these new genetic tests. It can be harmful to know what kind of Damoclean sword is hanging over you, they contend. Commercial profiles provide too little usable information; people don't know how to interpret their own results. Different providers make use of different gene “chips” in their analyses; a high risk from one is translated as a low risk from another. Lone Frank was herself hesitant about learning everything about her possible health future, though she has the background and knowledge to understand more than most. She puts aberrations in perspective when she says reassuringly: 'None of us are free of mutations and genetic weaknesses - the flawless genome does not exist.' For her, knowing her “organism's” strengths and weaknesses has empowered her to live as healthily as she can in an effort to strengthen her chances of not developing the conditions to which she is knows she is prone - cancer, cardiovascular disease and depression. Furthermore, she adds, studies have shown that it is not deleterious for ordinary people to know their risks.
Privacy is clearly an issue given the accessibility of this information, but Frank downplayed the risks. She believes there are big advantages in private companies who hold these enormous databases having the capacity and client-consent to add longitudinal data through ongoing surveys. They are achieving research beyond the scope of publicly-funded agencies. They have the capacity to explore issues such as what happens if we eat X, or avoid Y, or adopt this or that behaviour? - essential information given the fact that we now know that “genetic determinism is dead”; the environment (in its broadest sense) plays a significant part in what happens to any individual.
Besides, understanding one's genetic underpinnings is of limited value to anyone else. It gives only a partial picture. Scientists are now turning their attention to epigenetics - the things that turn genes on and off. Early studies of brain cells from suicides, coupled with research on rats, suggest that abusive childhoods can influence genetic predisposition to depression. And having a mother who was depressed during pregnancy can influence the mental state of the child. There is much more to know before the genome is fully understood.
Discussion skimmed over questions of intellectual property; the consequences of genetic to relatives; the implications for prospective parents wanting to minimize genetic disadvantage in their children; commercial pressures; the implications for employers using these tests as part of a selection process; DIY genetic testing; the surreptitious testing of celebrities or to establish paternity; and the potentials in genetic dating. Time didn't allow for comprehensive answers, but two points deserve a mention. Boundaries and laws vary from country to country. And it's important to remember that some genetic vulnerabilities have positive, as well as negative, consequences.
It was a big and complex subject to grasp in a one-hour conversation at the Book Festival. I was very glad I'd read the book beforehand. It seems fitting though to give the author the last word: my genome is “not a straitjacket but a soft sweater to fill and shape, to snuggle up and stretch out in … it is information that can grant me greater freedom to shape my life and my essence.” How comforting.