Tom Shakespeare

“O wonder!
How many goodly creatures are there here!
How beauteous mankind is! O brave new world
That has such people in’t!”
The Tempest

 Life may be what we make of it, but we can only do a limited amount about its ingredients. Much of who we are and what we do is given to us at birth, not chosen freely. I have discussed a different aspect of inheritance in each chapter of this book, exploring themes which shape all human lives, via the particular story of one family. Simplifying wildly, these mechanisms are threefold: genetic; psychological and cultural; and social and economic:

  1. Children inherit their DNA from their mother and father: these genetic instructions shape how they look, develop, behave and age.
  2. Children are born into families and cultures: through socialisation, they absorb values and attitudes.
  3. At a material level, individuals have access to opportunities and resources as a result of their family’s social position and prospects.

All of these dimensions contribute to a person’s sense of self and their experience of life. Philosophers have sometimes used the metaphor of the natural lottery to convey this sense of the biological and social endowment with which we are born and over which we have minimal control, whether it lies within our cells, our family, or our society.

While there has been interest in inheritance throughout human history, the last fifty years have seen a tremendous escalation of genetic knowledge. With expanded understandings comes a growing sense that human beings are on the brink of a new relationship to heredity, in which we may be able to subvert fate to become masters and mistresses of our own destiny. It is a prospect which both thrills and appals us. We may begin to replace luck with responsibility.

The genomic era began in 1953 when Francis Crick and James Watson identified the structure of DNA, the molecule in which our genetic instructions are written. In the same year, my father began his medical education in Cambridge , attending lectures very close to where Crick and Watson had their lab. Genetics would hardly have featured in his training, although the Mendelian concepts of dominant and recessive inheritance were well known. Later, as a practising GP, my father was always keen to read the latest reports on genetics, and after his death I found the cuttings he had taken from the British Medical Journal. His interest in the subject, unusual for a GP, would partly have been a purely intellectual fascination, but the fact that he had a genetic condition himself would have made the subject feel more relevant. I remember when I was at public school, he came and gave a lecture to the sixth form about genetics: it would have been about 1980, before the Human Genome Project had even been thought of. A few years later, my father attended the first meetings of the Genetics Interest Group, an alliance of patient support groups, on behalf of the Restricted Growth Association. Two decades further on, I visit local schools to give talks about the latest understandings of genetic science and ethics, liaise with the Genetics Interest Group, do research for the Restricted Growth Association, and read the latest reports of scientific advances with both professional and personal interest.

Both elegantly simple and impossibly complex, DNA has become the secular equivalent of the soul. This is both because it represents our inner self, the truth of our identity, but also because it operates as an immortal essence, transmitted from parent to child and onwards through the generations as long as we reproduce.

Our DNA makes us human. We are all the same under the skin, because the vast majority of our genome is common to every one of us. But DNA is also what makes us unique. Minimal variations, perhaps one letter in every thousand, are what distinguish us. Only identical twins have the same DNA, and even they diverge away from their shared inheritance as they age. Through what the geneticist Francois Jacob calls a “molecular bricolage” (1982), a finite number of biological elements are endlessly combining and recombining. We are both separate, and connected, not just to our family members, but to our wider kin, our community, and to the family of humankind.

Following Crick and Watson, genetic research slowly gathered momentum. Scientists decoded the mechanisms by which DNA instructions built proteins which shaped organisms. They began to connect changes in genes to the resulting diseases and disabilities. Knowledge brought the hope of intervention: scary talk of genetic engineering – altering our genetic endowment both to eliminate problems and add better characteristics. But this prospect is only in its infancy. For now, the main contribution of DNA to human health and self-understanding is restricted to the power of diagnosis. We can discover the secret messages of our DNA, but we can do only a limited amount to avoid the fate which our genes reveal.

It is important to stress just how little we know about genetics. The much heralded Human Genome Project concluded at the turn of the century, having spent £3 billion to sequence the A, C, G, T building blocks of our genes. Tony Blair and Bill Clinton made speeches heralding the end of disease, the defeat of poverty and life extension for all. But understanding the order of the letters is like transliterating a Russian text into our own alphabet: we still cannot read the book, unless we understand what the words mean. We are even further from using our knowledge to solve problems.

Even after the completion of the Genome Project, there remained controversy about how many words (genes) there were. I started my work as a science communicator in 1999, telling people that there were 100,000 – 150,000 genes. Regularly thereafter, I was forced to alter my script, as molecular biologists announced lower and lower estimates of the number of human genes. Last week I was confidently telling people that we had around 30,000 genes, when my colleague Professor John Burn – from whom I have learned almost all my genetics – casually revealed that it was now thought to be less than 25,000 genes.

To take another example, in the 1970s, it became clear that some species have as much as ten times the DNA than they need, which some biologists have described as “junk DNA”, because the sequences of letters did not seem to code for any active gene. But now it is understood that the genes are only part of the story. Spacing sequences and control sequences also matter. The current scientific focus is on gene expression, the set of instructions for turning on and off the genes, or inhibiting and promoting their action, operating via non-coding RNA molecules. So some of the “junk” does vital work as genetic switches and dials. It even appears that our environment or our behaviour can influence this process. It’s not simply that our genes control us, but that in some cases, our actions influence how our genes are mobilised.[i]

Although genetics has come a long way since Crick and Watson, we are far from understanding the complexity of the story. Perhaps because of excitable media coverage, fuelled by the hype of some scientists and the hysteria of some anti-genetic activists, we tend to imagine that genetics is fully understood and all controlling.

But we still know vanishingly little about how the genes interrelate, working with each other and environmental factors. There are huge areas of uncertainty, both in how DNA operates, and especially about what particular DNA results can tell us about our health. Often, DNA tests come back with results that are vague, statements of probability rather than definitive predictions. When it comes to the genome, sometimes labelled The Book of Life, interpretation is all.

 

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The successive births of three generations of dwarfs in the Shakespeare family reveal how the context of genetics and disability has changed over a century. Dad’s birth was a complete surprise which shocked his parents and which they could not have avoided. My birth was predictable – there was a fifty per cent chance that I would have achondroplasia – but my mother and father had no way of knowing whether I would inherit the gene. My children’s disability could have been diagnosed during pregnancy, and it would have been possible to have opted for abortion to prevent their birth. Because my father had personal experience of achondroplasia, he was willing to meet me. Because I had lived with the condition, I was ready to accept my children. We who are familiar realise that every person has a personality of their own. None of us are defined by our disability.

There are over six thousand single gene conditions, of varying degrees of impact. Achondroplasia, one of nearly two hundred causes of restricted growth, is one of the least serious ones: we may appear unusual, but most of the time our bodies function effectively. Most of the time, babies with achondroplasia – or other rare genetic conditions – are born without warning, to families who have no previous disabled children. At least two thirds of the time, the mutations happen de novo: out of the blue.

Sometimes, couples know that they are at risk of a disabled child. Like me, they might have a dominant genetic condition, meaning that they have a fifty per cent chance of passing it on. Or they may know that they are both of a recessive genetic condition, with a twenty-five per cent chance of having an affected child. Testing during pregnancy can reveal whether their baby would be affected. For some families, this is about being forewarned and prepared for the birth. For others, it enables them to have a termination, hoping for an unaffected pregnancy next time. With very serious conditions, which cause great suffering or restricted opportunities, it is obvious why a couple might wish to avoid such a birth. As long as the choice is theirs, and the health service supports them with full and unbiased information, I do not object to prenatal diagnosis being available.

However, obstetrics now offers much wider surveillance of pregnancy to all couples. Maternal serum screening can show increased risk of abnormality, and ultrasound scanning can pick up structural problems in the developing foetus. In these cases, a couple who are expecting a healthy child, and are unfamiliar with disability are faced with the alarming prospect of a child with Down syndrome or spina bifida or restricted growth, or another more obscure condition. They might not know how much of a difficulty this would be, and may understandably be frightened and anxious. They cannot put a name to the condition, identifying it with someone whose life they can value. Advances in healthcare now means that people expect a perfect baby. Increasingly, there is an expectation that disability can be avoided. Hence around 90% of couples with a diagnosis of Down syndrome, for example, terminate pregnancy. While I do not object in principle to abortion, it seems to me very regrettable that there is a dominant cultural assumption that it is the appropriate response to disability.

At present, screening is available for a limited number of conditions. Many people are having children later. With increased age there is increased risk of gametes having genetic or chromosomal abnormalities. Therefore the rise in terminations is somewhat offset by the rise in affected pregnancy. Add in the increased survival rate of premature babies, up to half of whom are disabled, and the result is that there has not been a steep fall in the number of disabled children being born.

However, technology is always developing. For example, since 1990, pre-implantation genetic diagnosis (PGD) has provided an alternative to pregnancy testing, for those couples who are willing to undergo IVF. In the laboratory, the embryo is grown to the eight cell stage, which it reaches on the second day after fertilisation. One cell is carefully removed from the microscopic cluster of cells, and a DNA biopsy is performed. If the embryo is free of the disease for which the couple are at risk, it can be implanted in the woman and in about one in four cases a pregnancy results.

For a small number of families at risk of a genetic condition, PGD offers the chance to avoid both disability and abortion, albeit at a high cost. For campaigners, it raises the fear of designer babies, while for enthusiasts like Lee Silver and Gregory Stock, it offers the prospect of breeding healthier children, not only free of disease but also selected for positive characteristics such as intellectual, sporting or creative ability.

As usual, both the nightmare and the utopian scenario remain science fiction. At present, only one condition can be tested for, and it’s impossible to be confident of avoiding the common diseases, let alone selecting for favourable traits. But in future, new technologies for analysing DNA may enable hundreds of variations to be tested for at once. PGD would then become much more powerful. Alternatively, rather than going through the challenge of IVF, it might be possible to locate and test a fetal cell in a blood sample drawn from a pregnant woman at around ten weeks. Within the first months of a normal pregnancy, information about the status of the foetus might enable prospective parents to decide whether to continue this time, or have an early, safe and (comparatively) low trauma termination and try again.

My children are now both entering their twenties. When they decide that it’s time to start a family, medical science will offer them as much information as they could possibly want about their future child, and more choices than they know what to do with. Like every other prospective parent, they will be able to receive a genetic print out within the first few weeks or months of conception, which will tell them information about hundreds of genetic conditions, not just achondroplasia. They will have to decide whether to continue with their pregnancy, or end it, and try again later. They may even be able to create embryos in advance, and choose which embryo to become pregnant with, in order to select the one with their preferred characteristics and best life chances.

The next generations of parents will have the responsibility of deciding which genetic conditions are worse than not living at all. They will be able to choose not just whether, when and how many, but even what sort of babies they prefer. They will face the judgements of their relatives, friends, and colleagues on their selection. Later, they will have to explain to their children why it was that they picked them, not the alternatives who might have been.

The gene for achondroplasia was discovered in 1989, the year after my children were born. Members of the dwarf community were very concerned about the implications of this new knowledge. People in the Little People of America support network began to sport tee-shirts with the slogan “Endangered species”. Other disabled activists are alarmed at the prospect of a new eugenics. Deaf people, for example, regard themselves as a cultural minority united by sign language, not as people with an impairment. Not only would they generally oppose selective termination of foetuses affected by hearing impairment, they might even opt to choose a child who shares their condition, and can become a member of their community.

It’s a strange and disturbing thought that a technology now exists which could have prevented you from being born. I remember being shocked and outraged when I first understood the possibilities. It evokes concern about what one’s parents might have really wanted, and fear of rejection. But over the years, I have tried to separate emotions from reasons, and explore the prospect of genetic screening more calmly. My thinking has been influenced by meeting parents and prospective parents, and understanding how they make their decisions in pregnancy, and talking to many geneticists, who have seemed to me overwhelmingly sensitive and responsible in their work with patients.

I have come to the conclusion that much of the alarm is misplaced. The tendency to talk in terms of Nazi eugenics or ‘search and destroy missions’ exaggerates the dangers. Unlike in the early and mid twentieth century, nobody is being sterilised against their will. At least in the West, few people are incarcerated in asylums or residential institutions. Nobody is being murdered in secret euthanasia programmes. Nor is there a major racial or class dimension to the new genetics.

Rather than the state deciding on a policy of racial hygiene or eugenics, genetics claims to be about health professionals offering choices to individual women and men. We have the power to discover things about an embryo in vitro or a foetus in pregnancy. Those who believe life starts at conception will abhor the resulting practises. But as someone who supports choice, it is hard for me to oppose the rights of couples to gain information and take action. Nor do I think that their decision to have a test or opt for termination is an insult to me or other disabled people. It is a complicated balancing act, but it is not incompatible to support the rights of existing disabled people, and also take steps to avoid the birth of a disabled child. If I ever had children again, I am not certain that I would not opt for PGD.

However, this does not mean I am unconcerned about the practice of screening. I fear that many couples are not given full information, nor real support to make decisions which are best for them. Professionals can be directive or prejudiced about disability. Wider society sends strong messages that disability is a problem which should be avoided wherever possible. For these reasons, although I do not think that prenatal diagnosis is eugenic in a true sense, I do think it has eugenic overtones, and action is needed to reform and improve the delivery of services.

I do believe that increasing powers of surveillance raise difficult questions for individuals. Termination of pregnancy is a very emotional decision, which often causes a life time of distress. As my colleague Barbara Katz Rothman wrote about amniocentesis “this technology makes every woman into a bioethicist”, in the sense that she – hopefully with a partner – has to decide what makes life worth living, which impairments are incompatible with a good life, what they owe to their other children and to the prospective child.

These decisions are difficult now, when few conditions are detectable. In future, when perhaps hundreds of disabilities and differences show up on a genetic print out, they will be very hard to interpret and gauge. After all, is a life time of achondroplasia more problematic than a 50% chance of breast cancer, or 100% chance of a degenerative condition such as Huntingdon’s Disease striking in midlife?

Despite the rhetoric and optimism, it is impossible to avoid all genetic differences. Every one of us has hundreds of mutations and susceptibilities, as will every potential embryo or foetus. Rather than a series of tentative pregnancies, as Barbara Katz Rothman calls the current era of testing and termination, perhaps people will settle for a reasonable freedom from the most serious diseases, rather than scrutinising every variation.

A final point is worthy of note. Only about 2% of births are affected by disability, whereas between 10% and 20% of the population are disabled, depending on how narrowly you frame the definition of disability. The main causes of disability are ageing, accidents, diseases and lifestyle, not genetics. I remember pointing out this fact to the biologist Professor Lewis Wolpert on a television discussion. He reacted with an almost comical disbelief and shock. My conclusion, which might be a source of concern or reassurance, depending on your viewpoint and life experience, is that genetics is not going to eliminate disability any day soon.

 

* * * * *

 

Looking at how our parents and grandparents have aged and ended gives us strong clues as to our own fate: inheritance is about death, not just birth. Some families consider themselves long-lived. If you’re lucky enough to be born into such a lineage, you might feel confident about your own longevity. But conversely, if you know that all your recent forebears died young, you might yourself feel doomed to an early grave. Research evidence shows that people who reach their 100th birthdays almost always have long lived ancestors. Compared to control groups, the data suggests they have a four to seventeen fold increase in likelihood of living longer. Their children would be likely to inherit their good genes, avoiding the common diseases such as diabetes, high blood pressure and other heart problems that cause premature death. In particular, Israeli research suggests that long-lived families pass on genes which protect against cardiovascular disease[ii].

Geoffrey, my paternal grandfather, lived to the age of 87, and lost none of his wits before he finally died of a stroke. This sounds like good news to me. But my paternal grandmother Aimee had her fatal stroke aged only 65. Perhaps I’d better go and get my blood pressure checked. On the other side of the family, my maternal grandfather Douglas had his first heart attack in his forties, and was only 65 when he died. But this ill omen is counter-balanced by my maternal grandmother. A heavy smoker for most of her life and keen on the bottle, she finally succumbed to colon cancer in her late eighties. Arguably it might have been better for all concerned had she not survived so long. But more recently, my aunty Penny, her oldest daughter, also died of colon cancer. Perhaps I should be worried in case our family is affected by a hereditary form of this disease, the commonest forms of cancer after breast and lung cancer.

My father’s example feels most relevant. He died of a heart attack at the early age of 68, which makes me wonder whether I’ll reach my own three score years and ten. Somehow, because we share achondroplasia, irrationally I feel that his life foreshadows mine. Yet I also know that he had pneumonia as a young adult, which may have damaged his heart and accounted for his later cardiac problems. Meanwhile, my mother in her late sixties looks as youthful as ever, and set to survive for decades yet.

Just as you can’t pick and choose who you take after, neither can you decide whose lifespan you wish to emulate. You might not even want to find out too much about whose DNA you’ve inherited. If your family is affected by a devastating, and thankfully rare, disease such as Huntington’s, the neurological condition which causes dementia, paralysis and premature death, you would most likely not wish to find out whether you had the faulty gene. To discover your eventual fate –even down to the likely decade when the symptoms would begin to have an impact – might make it difficulty to live a normal life. Why bother with investing in education or a career? Would it be fair to get married or start a family?

Thankfully, the common diseases which do most harm to most people are not caused by single genes, so that the patterns of inheritance are much more complex. In these cases, your forebears’ health experiences do not strictly determine your own fate, although they provide clues as to what might happen to you. Of course, at best genes only account for 50% of the variation. Diet, lifestyle and chance play major roles. After all, it’s not much good having a great genotype if you don’t look both ways when you cross the road, or you’re unlucky enough to be caught up in a major war or other man-made or natural disaster. And you can also take steps to control your risk, avoiding heart disease, for example, by modifying your diet or taking cholesterol-lowering drugs.

This discussion shows how the new genetics is relevant not just at the point of reproduction. Progress in understanding of the genetics of disease means we can now be tested to confirm diagnosis of our current ailments or to reveal what we may be at risk of succumbing to in later life. Genetic factors have a role in many diseases, from common problems like cancer or heart disease, to rare disorders. For example, the gene ApoE is associated with both dementia and heart disease. Depending on the variant of the gene which you have inherited, you might be at higher risk. But in cases like this, the results of a DNA test are rarely definitive. Unlike the simple genetics of a condition such as achondroplasia, having a gene for a complex disease does not mean you will inevitably get dementia or heart disease. Moreover, you might be able to take action to avoid getting the condition: change your diet or your lifestyle, have prophylactic surgery or take preventative drugs such as statins.

Twin studies reveal many conditions to be heritable. Among these are major psychiatric problems such as depression and schizophrenia. The work at present is to understand which genes are involved, and how they operate. There are regular announcements of discovery of genetic factors involved in depression, schizophrenia and other common disorders. It is most likely that there will be many different genetic changes which contribute to a higher risk of such diseases. It is very unlikely that a simple “gene for depression” will be found, any more than a “gene for alcoholism” or “gene for homosexuality”.

Lay knowledge about genetics is limited. The Mendelian patterns of dominant and recessive inheritance are taught in school, and some people may have vague memories of a deterministic model. But apart from rare conditions like mine, the genetics of most common conditions is much more complex, because many genes interact with each other and the environment. Social and psychological researchers have explored the limitations of lay understandings. For example, one study found that students thought that family history was more relevant to heart disease and diabetes than to cancer. They believed that heart disease could be controlled by diet and behavioural change, unlike cancer. Respondents tended to think that their own actions decreased their risk of getting a condition, whereas factors beyond their control – such as life history and environment – tended to increase their risk. Unless they had a close relative with a condition, they did not believe themselves to be at increased risk due to inheritance. All these assumptions are misplaced. The researchers also found that usually it was women who were the keepers of both family history and information about health. Few could report family history back further than their grandparents[iii].

Some researchers have argued that family and kinship are becoming medicalised as a result of the new emphasis on medical genetics. Many people have now experienced their doctor taking a family history, to see if they are at raised risk of cancer or heart disease. In the genetic era, doctors have to relate to a whole family, not just to the individual patient. Individuals at risk depend on their relatives to cooperate by giving samples for genetic testing. In turn, if an individual finds a relevant result from a test, they might be obligated to tell relatives, who might also be at risk. How far does a doctor have a responsibility to communicate information more widely, particularly if their own patient is unwilling to disclose to other relatives?[iv] Genetic testing may serve to bring widely separate families together, but it might also be a source of conflict. Kaja Finkler argues that there may be a loss of individual autonomy, but a growth in solidarity.

Fresh ethical dilemmas are raised by the new genetics, which risks creating a whole new group of ‘worried well’. Some people might not want to know what they are at risk of, particularly if they can do little to change their risks. People who are free of the genetic risk may feel ‘survivors guilt’ if their siblings have been less lucky, and consequently fall ill. Alice Wexler, whose family are affected by inherited Huntington’s Disease wrote:

“what my sister and I thought we knew about our family suddenly shifted and everything had to be rethought, reinterpreted. Who we were had suddenly been called into question, and everything had to be reconfigured taking into account the presence of the disease”[v]

My father’s sad sister Judith does not seem to have had a clear diagnosis of her emotional problems. But as genetic understandings of mental illness continue to develop, a contemporary Judith might be able to have a genetic test which reveals what is wrong. A more accurate diagnosis might enable psychiatrists to recommend a specific treatment appropriate for the individual: psychotherapy, cognitive behavioural therapy, or drugs. For many years, there were no really effective treatments for depression and schizophrenia. The benefits of Lithium for manic depression were discovered the year of Judith’s death; barbiturates to reduce anxiety followed in the 1960s. In the 1980s, the new SSRI drugs like Prozac seemed to offer a panacea. But even today, most psychiatric drugs have bad side effects, and nearly a third of patients do not benefit from them.

In future, genetic knowledge of mental illness might aid in the development of better and more targeted pharmaceuticals, which could improve management of the disease. The alternative scenario is that prenatal diagnosis reveals which foetuses are at risk of serious mental illness, and prospective parents are offered termination. This seems a brutal response, but given that I have previously argued that Judith’s experience and fate was very much worse than my father’s, it’s not clear why prenatal diagnosis might be thought appropriate in the case of physical but not psychiatric conditions. Of all disabilities, severe depression appears to be one of the hardest for an individual and their family to bear.

 

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Genetics might seem irrelevant to class and inequality. But while there’s certainly less to say in this case, there are associations and implications. For example, paternity testing has proved relevant in family inheritance cases. Aristocrats and monarchs seem to have more than their fair share of illegitimate children, and there is speculation about the parenthood of royals in several European dynasties. Alternatively, the use of pre-implantation genetic diagnosis to choose the sex of your child might come in handy for those in search of a male heir to the throne or title.

More importantly, the genetic testing I have just described has social and economic implications for individuals. Those who are found to be at risk of serious disease may in future find it difficult to get life insurance, or even to get employment. The insurance industry already relies on family history information to set people’s premiums or to exclude bad risks. As far back as 1810, life insurance companies were denying coverage to people whose brothers were insane. Actuaries would love to have access to more genetic information in order to concentrate on healthy people who are unlikely to make claims.

This appears to be unfair discrimination. Yet insurance is a business, and insurers already discriminate between female and male drivers, smokers and non-smokers, and young people and older people, all on the basis of what is know about outcomes for different groups. They would say that using genetic information is no different. For some people, who have a poor family history but are themselves found to be free of the relevant genes, testing might improve their chance of getting a good insurance deal. The danger is that others, through no fault of their own, would be excluded, perhaps from insurance, maybe even from many forms of employment. As an insurance industry spokesman quoted by Eric Juengst stated:

“Harsh as it may sound to ears of a society that subscribes to egalitarian principles, solidarity ends with a negative genetic test”[vi]

Some commentators fear that the result could be a “genetic underclass” of people who are doubly disadvantaged, both by their genetic endowment, and by the unwillingness of society to compensate or support them. In countries like the United States, where medical insurance is closely connected to employment, and where there is no universal state provision, genetics could lead to further social exclusion. In countries like Britain, while it has a National Health Service, risks are pooled across the whole population: an individual unfortunate enough to have poor genes is carried by the rest of the contributors to the social insurance scheme. There is currently a moratorium on the use of genetic information by insurers, except in limited situations.

In my earlier discussion of class and privilege, I hypothesised that genetic endowment might contribute to perpetuating social inequality. Historically, good and bad genes were spread at random through the population: there were clever people from the lower classes (like Thomas Hardy’s Jude the Obscure), and stupid people in the upper classes (like PG Wodehouse’s Bertie Wooster). People tended to stay in the class into which they were born, unless they made the mistake of having too many children, who ended up splitting up the family fortunes and sliding down the income scale .

In a future society, where barriers to progress had been removed and equal opportunities prevailed, a meritocracy might result. In such a world, people whose genes had predisposed them to greater aptitude might naturally rise to higher social roles whereas people with inferior talents might fall to lowlier positions. Instead of a class system based on accident of birth, you would have a superficially similar but rather different class system based on accident of genes. This is exactly the scenario which Michael Young satirised fifty years ago in his book The Rise of the Meritocracy:

“The talented have been given the opportunity to rise to the level which accords with their capacities, and the lower classes consequently reserved for those who are also lower in ability.” [vii]

The implications of his argument , written as from the year 2033, was that a stress on innate intelligence and individual competition would be bad for social solidarity and would cause unfairness and ultimately division and conflict. There’s no sign, however, that traditional class inequality has been eroded, and privilege remains more important than innate ability in predicting achievement.

More recently, some scientists and philosophers have hypothesised that in future, genetic manipulation would enable families to improve the quality of their offspring. For example, use of embryo selection might enable people to have brighter and more capable babies. In his book Remaking Eden, American biologist Professor Lee Silver points out that these PGD technologies would only be available to those who could afford them. Just as the rich currently buy private education for their children, so in future, they would essentially be buying offspring with improved genetic endowment. Philosophers argue that there is no moral distinction between changing nurture and changing nature, when the result is similar. The ultimate outcome might be a growing polarisation between what Silver calls the GenRich and the GenPoor, who continue having children the traditional way, risking the reproduction of bad genes.

Jonathan Glover and John Harris each make a similar argument, when they look forward to a world in which the negative aspects of human nature might be have been eliminated. Reviewing the ugly history of the twentieth century, Glover thinks that genetic manipulation might result in clever, happier and less violent humans. Harris can see no reason not to prefer an altogether more clever, more long lived and better endowed version of the species.

These scenarios may appeal to some. My genetic colleagues point out the very real practical obstacles to realising the dream: PGD remains a crude technique. But there are also negative social implications – namely the increasing polarisation between those who could afford and those who could not afford the technologies. Given existing inequality in healthcare within and between nations, it seems immoral not to prevent the elites improving on their endowment, when the majority of the population are still striving to achieve basic standards of health and education.

The philosophical label for the position take by Glover and Harris is perfectionist utilitarian: they look to ways of reducing suffering and increasing happiness, and believe that it is feasible and desirable to improve on human endowment and functioning. Of course, reducing the burden of disease and disadvantage seems obviously desirable, but I remain sceptical of this approach for a number of reasons. First, striving in life does not seem to be a bad thing: suffering and difficulties faced and overcome are part of what it is to be human, within reason. Talents or abilities which come easily, rather than having to be worked at and fought for, would seem to be inherently less valuable. The world envisaged by Glover and Harris resembles, in my view, the world of the film The Matrix, where the characters could gain new skills (usually martial arts, rather than piano playing or oil painting, it must be admitted) by downloading a programme into their brain. In real life, self-improvement, according to the world’s major religions and spiritual philosophies, is a struggle.

Second, it is not obvious that the world would be a better place if everyone was much cleverer, for example. Society depends on a distribution of talents and skills, so that people have the chance of finding a role to which they are suited. Not everyone can be a brain surgeon; someone has to make the beds. Moreover, it seems plausible that cleverer people are less likely to be happy: they understand more, and may find it harder to relax, or take solace in mindless pleasures. They may share the sorrows of Goethe’s Werther.

Third, the idea that negative aspects of human nature could somehow be engineered out is misleading: many of the positive features of human nature – for example, the competitive urge for self-improvement – are the flip-side of negative features. We might not be able to remove the disruptive and risk taking antisocial behaviour, without also losing the socially valuable and innovative entrepreneur.

 

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In the late 1940s, the College of Heralds failed to find the evidence to link my grandfather to William Shakespeare. Genealogical research often runs into a dead end around 1800, before the National Census started, and when documents are hard to come by. But increasingly it seems as if genetics might come in handy. There are at least three scientific roots to tracing relatedness through DNA. First, all men have one X and one Y chromosome: their Y is inherited from their father, and because it is not one of a matched pair, the DNA is not shuffled as on the non-sex chromosomes. In other words, I have the same Y chromosome as my father, my grandfather and back through the generations.

The British geneticist Bryan Sykes used this fact to trace the origins of his own surname. He gathered a large sample of other Sykes – Professor Sykes, Dr Sykes, Bishop Sykes and many examples of plain old Mr Sykes. Testing the Y chromosome of 60 of them, he found that the majority shared a common ancestor. The family was ultimately traced back to Willian Del Sykes farming in 1280s in the village of Flockton, near Slaithwaite in West Yorkshire.

Gathering a similar sample of men called Shakespeare might be fascinating, showing how many were related. If only we had an authentic biological sample from William Shakespeare, we might then compare Y chromosomes and discover if we shared a common ancestor. Sadly, I learned recently that people sharing their most recent common ancestor 10 generations ago only share around a millionth of their DNA, and at least 20 generations separate us from the great man. But I’m still tempted to suggest that it’s time to disinter the bard’s body from its resting place in Holy Trinity, Stratford. Although his epitaph clearly pre-empted that possibility:

“Good Friends, for Jesus’ sake forbear,
To dig the bones enclosed here!
Blest be the man that spares these stones,
And curst be he that moves my bones.”

So perhaps better not.

The second route to trace relatedness exploits another source of DNA, found in every cell. The mitochondria were separate bacteria millions of year ago: they became absorbed into other organisms, providing an energy source for the cell, but still have their own loops of simple DNA. Mitochondrial DNA (mtDNA) derives from the original maternal egg, and so is passed down the maternal line. Comparing mtDNA enables geneticists to trace relatedness.

Both Y chromosome and mtDNA studies have enabled population geneticists to trace the path of human migration out of Africa. Comparing samples from different global populations shows how the human species developed and separated into different areas. DNA changes accumulate through time, meaning that the oldest population groups have the most genetic diversity. Research by Richard Lewontin showed that variations within a particular population group was much wider than variation between population groups, undermining the traditional idea of separate races.

Bryan Sykes has even used mtDNA analysis to trace what he fancifully called the Seven Daughters of Eve, women living between 45,000-10,000 years ago who became the ancestors of 95% of current Europeans. This imaginative reconstruction enables people who have £150 to spare on a genetic test of their MatriLine™, provided by Sykes’ company Oxford Ancestors, to personalise their prehistoric ancestry.

The third method for tracing relatedness uses a number of chromosomal markers, just as with paternity testing. If we had a sample of Shakespeare’s DNA, this would be the best way of proving we were from the same family. The technique could prove that Thomas Jefferson was more prolific Founding Father than had been imagined: Y chromosome research suggested that he (or one of his brothers) was the father of Eston, the last son of his slave Sally Hemmings. The previously all-white Monticello Association of Jefferson descendents had to acknowledge than there might be a number of African Americans who were entitled to become members.

As I discussed earlier, geneticists have always used pedigrees, artfully piecing them together from anecdotes, memories and suppositions. By tracing patterns of inheritance in a family, clinicians can understand the nature of a genetic disease, and the probability of it recurring. By taking samples from affected and unaffected family members, they can even sometimes locate the gene itself. The family history work of clinical geneticists can even lead to the discovery of unknown family members.

Using Y chromosome and mtDNA techniques creates a much wider version of genetic kinship, going thousands of years further back in time, and embracing whole communities of people previously thought unrelated. Rather than relying on family legends or dubious documentation, scientific objectivity can be brought to bear on the mystery of our origins. Dozens of biotechnology companies now advertise that they can use DNA testing to trace people’s roots. Genealogy now becomes extended both horizontally and vertically.

One obvious application is to help communities search for their ethnic origins. For example, a celebrated case involved a South African tribe, the Lemba, who preserved the legend that they were originally Jews: they also followed a version of the Torah’s dietary laws. Research by geneticist Tudor Parfitt, using the Y chromosome, showed that the oral tradition was supported by the scientific data. They were indeed a lost tribe of Israel. A similar study of Jewish men with the name Cohen showed strong connections between them, suggesting a common ancestor. According to the Bible, all the Cohenhim, who were traditionally the high priests, are descended from Aaron, brother of Moses. Again, science gives some support to tradition.

Ethnicity testing offers benefits to individuals, not just communities, for example with the desire of some Americans to claim membership of Native American tribes, or to trace their roots in Africa. This form of genetic testing is a rapidly expanding business, as tens of thousands of people seek evidence of their identity through mtDNA and Y chromosome tests. In the case of Native Americans, the results could potentially bring personal financial as well as heritage dividends, because some tribes have become wealthy through operating casinos on reservations[viii]: you might want to prove that you were a genuine member to gain access to the benefits.

Companies such as DNAPrint offer ANCESTRYbyDNA™, a service which analyses up to 175 markers to find the proportion which relate to each of four categories, East Asian, Indo-European, Native American and Sub-Saharan African. Given that skin tone is of limited use in tracing ethnicity, this gives an indication of someone’s heritage. Someone who thinks of themselves as white – such as the Chief Executive of the company – might be surprised to find themselves to be 10% Native American[ix]. Lots of white British people have found that they have African ancestors, helping to break down myths of racial purity.

I’d be excited to be able to prove that I had a Sinhalese ancestor on my maternal grandmother’s side, as the family tree suggests. My father’s cousin Jane likes to think that the Shakespeares have Jewish ancestors, noting that John Howard Shakespeare’s wife was called Goodman. She points to the prominent nose and high intellect of our relatives to build her case, as well as the family legend that one of the Goodmans, though baptised Christian, still refused to eat pork. Like many Westerners, we are both keen to trace a more exotic and distinctive past (as if a possible connection to William Shakespeare wasn’t enough).

However, I think both of us are doomed to disappointment. AncestryByDNA™ links people from South Asia and the Middle East together in its broad “European” category. It would take further money and research to attribute the proportion of my DNA which was either Jewish or Sinhala. My genetics colleagues warn me that the tests are of dubious reliability. The data cannot show when the “admixture event” occurred – it might be within the last century, or it might be thousands of years previously. And the findings are only as good as the reference population in the company’s database. We might be scarcely better off with science than we are with the family legends.

Genealogical genetics remains appealing, because of its potential to reveal the secrets of our origins, clues to which lie within every cell of our bodies. Memory fails and legends are unreliable, but science promises to provide facts. Suddenly, our family grows much wider, as we claim kinship with wider communities or distant ancestors in the primeval period. We have the excitement of having lots more relatives, and the joy of not having any complicated responsibilities towards them[x].

 

* * * * *

 

The increasing emphasis on knowing your genetic origins has implications for adopted people. It places higher weight on the role of birth parents than the invented relationships of adopted parents, perhaps making adopted children feel that there’s something important about searching for their origins. Some birth fathers deny paternity, in which case a DNA test can settle any doubts. The emphasis on genetic connections potentially further stigmatises and excludes people who are adopted and are not in touch with their families of birth. If a doctor asks for family history, an adoptee has to admit that they lack the knowledge. For this reason, British law has changed to give adoptees access to basic genetic information about their birth parents, although there’s scope for this to go further. But if the records included DNA samples, pedigree and medical information about relatives, then clearly all anonymity would be impossible.

Similar problems occur for children born as a result of gamete donation. Sperm donation has occurred since the nineteenth century, but became more common from the 1970s onwards. Because in the past, sperm donors were anonymous, they have no means of knowing their biological origins, and consequently discovering their family medical history. Sociologists have coined the term “genealogical bewilderment” to describe the distress experienced by some donor conceived children, but there is debate as to how widespread this feeling might be. I remember meeting a woman in Australia who was very angry and upset that she had no means of tracing her biological father: it was an experience that made me a strong supporter of recent changes to remove anonymity from future gamete donors.

People expect a child to look like its parents. Meeting a new baby, there is a powerful social convention that you track its physical similarities to other family members. Soon after birth, apparently 75% of mothers point out how her baby looks like its father – presumably to settle any doubts about false paternity[xi]. This almost ritual way in which family and friends talk about the resemblance of a child to its (presumed biological) parents becomes a threat to infertile couples who use gamete donation to conceive. Often, such couples do not disclose to others that they have used donated sperm or eggs. Although it is possible to match a donor to the physical traits of the couple – height, skin colour, eye colour, hair colour – not everyone bothers, and it’s not always reliable. Having a child who does not resemble you can cause a sense of loss or sadness in parents, a reminder of infertility. If the gametes from one parent have been used, but not the other, then this might cause guilt that there is a asymmetrical biological relationship.[xii] Conversely, adopted children often wonder about their traits and features, which are often anomalous in the context of their adopted families: meeting a mother or siblings who show the same characteristics can be strangely reassuring and validating, even if the hoped-for restored relationship does not work out.

Recent reports suggest that some local authorities are using DNA tests such as AncestryByDNA™to determine the ethnicity of looked after children, when there is reason to suspect from skin pigmentation that the child has mixed heritage. This seems rather alarming, not least because of the reliability problems which I’ve already discussed. Even when the science may be accurate, much is down to interpretation, not least because ethnicity is more of a social construct than a genetic category. Nor is it clear to me how determining genetic ancestry helps in the appropriate placement of children. The thought of social workers armed with genetics is truly alarming.

 

The increasing relevance of genetics might suggest that biological connections and identities are what truly matters. But at the same time, contemporary families are becoming more diverse and dynamic. High rates of divorce and remarriage mean that households often combine children from different parents. My own extended family includes four children with five different parents between them: my daughter Ivy has a half-brother (my son Robert) and a half-sister (her mother’s daughter Violet) and a step-sister (her step-father’s daughter Alba, whom she grew up with). My brother Matthew has two half-brothers (me and my brother James) and two adopted sisters, and a birth mother and an adoptive mother; his adoptive father died when he was a teenager, but he has a step father, and somewhere his birth father lives in Argentina, although he might have died by now and Matthew has never met him. My gay friends Simon and Paul have two children, after Paul donated sperm to a lesbian friend. Bette and Lucas have two mothers and two fathers who jointly share parenting. In all these families, biological relatedness is not the key to bonds of care and affection. Parents, brothers and sisters are people you love and share your life with, not simply those whose DNA overlaps with yours. Increasing “gene talk” does not mean that people are foolish enough to believe that everything is determined by the genes. As anthropologists suggest, scientific discoveries in genetics do not automatically translate into cultural meanings. Cultural patterns of meaning and kinship do the real work of linking and bonding families.

 

* * * * *

 

Contemporary society is fascinated by genetics. We talk about DNA as the key to life, it’s crops up in advertising, new companies are marketing tests and even jewellery based on DNA (“Your DNA is you, now and forever”) Saks Fifth Avenue sells Lab21 SkinProfiler for $250: four markers are identified from a sample of skin cells, to make a skin cream genetically tailored for the individual.

Some researchers claim that the development of genetic knowledge and practice has led to an increasing tendency towards what they call geneticisation, the explanation of social phenomena in terms of DNA. In offering a concluding chapter which argues that genetics means that inheritance might change in many ways, perhaps I am reinforcing this practice. Yet suggestions of geneticisation seem exaggerated. Genetics does have an impact, and may have an increasing impact, but in most realms of life, including medicine, it is business as usual.

Apart from anything else, the science remains incomplete. The genetic questions which fascinate me most are the mechanisms of family resemblance, and the ways in which behaviour is influenced by DNA. Research and common sense suggests that biology is playing a role in both, but frustratingly little is known about the mechanisms, not least because the priority is to understand serious disease, not why you have your aunt’s nose or your father’s temper. It’s an example of how lay people tend to over-estimate the extent of our scientific knowledge.

We also over-estimate the extent of genetic determinism. Although I trained as a sociologist, my father was a doctor, and I have always been very interested in biology. Therefore, I resist the social scientists tendency to deny any role for genetics in human affairs. In fact, I am more likely to ascribe too much explanatory relevance to DNA, because genetic explanations often seem so ingenious and neat, or perhaps because I am taken in by the genetic hype. Having worked closely with geneticists for nearly ten years, perhaps I’ve gone native.

It’s useful, therefore, to remember that not all correlations are evidence of causation. After graduation, my father went to work in industry, before returning for further study in his chosen profession. I did exactly the same, spending a year as a printer before choosing an academic career. Genetic predisposition? No, just coincidence. Similarly, my ex-wife’s mother had three children. Each of them married a partner who had a daughter from a previous relationship. Uncanny, but again, purely coincidental.

We always like to see patterns, connections and meanings in life’s events, trying to make sense of what is often simply random. Often, we look for only what we want to find. In the same way, I see links and parallels between the personalities of family members, clutch at ethnic straws, and guess at posthumous diagnoses. It would be nice if my hunches were accurate, but perhaps they only reveal my desire for a good story, and willingness to jump to conclusions.

Of one thing, I am certain. We are more than our genes. I have a G to A transposition at point 380 of my FGFR3 gene, like my father before me. But that’s only one part of a very complex picture. If you want to understand his life, or you want to know about my own, then the last place you want to start is with our molecular biology.

Footnotes, resources and further reading

[i] Ridley, M (2004) The DNA behind human nature: gene expression and the role of experience, Daedalus Fall 89-98

[ii] Gil Atzmona, Marielisa Rinconb, Pegah Rabizadeha and Nir Barzilaia (2005) Biological evidence for inheritance of exceptional longevity, Mechanisms of Ageing and Development, Volume 126, Issue 2, pp 341-345

 

[iii] Ponder , M, Lee J, Green J, Richards M (1996) Family history and perceived vulnerability to some common diseases: a study of young people and their parents, Journal of Medical Genetics 33 (6), 485 – 492

[iv] Finkler, K, Skyrzynia C, Evans JP (2003) The new genetics and its consequences for family, kinship, medicine and medical genetics, Social Science and Medicine 57, 403-412

[v] Alice Wexler (Juengst 197 from Mapping Fate 75)

[vi] Juengst 196

[vii] Young, M (1958) The Rise of the Meritocracy 1870-2033: an essay on education and equality, Thames and Hudson, London, p.11

[viii] Genes, money and the American quest for identity, New Scientist March 11 2006

[ix] Connect yourself not just to ancestors but also to collectivities

Financial Times 2-3 November 2002

[x] Finkler, K (2005) Family, kinship, memory and temporarity in the age of the new genetics, Social Science and Medicine 61, 5, 1059-1071

[xi] Tim Spector (2003) Your Genes Unzipped: how your genetic inheritance shapes your life, Robson, London, p.27

[xii] Becker G, Butler A, Nachtigall RD (2005) Resemblance talk: a challenge for parents whose children were conceived with donor gametes in the US, Social Science and Medicine 61, 1300-1309