Martin Richards
While the claim that we are living in the biotech century may overplay an argument, it is undoubtedly true that the new genetic and reproductive technologies are increasingly playing a part in our daily lives. Those whose family medical histories suggest that a genetic disease may be running in their family can now take a DNA test which will tell them whether or not they carry the relevant gene mutation and so their personal risk. In other contexts, DNA tests are being used to determine the liability to pay child support, settle paternity disputes, or trace ancestral origins. And it is now a commonplace of police work that crime scenes are searched for traces of DNA which may then be linked to DNA profiles of suspects. A growing list of reproductive technologies may be used to provide children for the infertile or those without a reproductive partner. As I write, there is a public consultation underway (in the United Kingdom) about whether we should allow the development of new in vitro fertilization (IVF) technique which could be used by women to avoid passing on genetically inherited mitochondrial disease to their children. The technique involves modifying a mother’s embryo or egg with material from eggs or an embryo from another woman. It is a form of genetic modification which could change children in subsequent generations and so is currently not permitted in most countries and will require a decision of Parliament if it is to be used in Britain (see Nuffield Council on Bioethics, 2012).
In this chapter, I will discuss some of the ways in which genetic and reproductive technologies are being used, how they may influence family life, and how our attitudes and assumptions about the family may, in turn, shape the development and use of these technologies. The chapter begins with a discussion of DNA relationship testing and then considers some of the assisted reproductive technologies (ARTs). Attention is then turned to some of the medical genetic technologies, and the chapter concludes with a consideration of cultural assumptions and public attitudes to current and future technologies.
Until 1987, paternity and other genetic relationship testing was carried out using blood-group proteins. Such tests could exclude a child’s potential father, but a match only indicated paternity with a degree of probability. DNA tests are much more accurate than this. Apart from cases involving monozygotic (“identical”) twins, DNA tests can establish parent–child genetic relationships with a degree of accuracy that amounts to certainty for all practical purposes. These tests analyze parts of our chromosomal DNA which do not constitute genes and which are relatively variable in sequence from family to family. Samples from a child and a potential father(s) are compared to see whether various sections of the DNA sequence match. Initially, these tests, which have been developed and provided commercially, used DNA extracted from the white cells in a blood sample, but today they may be based on hair follicles, cells collected from the inside of the cheek, a smear on a drinking glass, or, indeed, almost any tissue in our body or from the material we excrete or leave around in the environment. Do-it-yourself postal kits are available, and the technology makes it easy for a sample to be collected without someone’s knowledge or consent.
The most widely used of all DNA tests are paternity tests (Rothstein et al., 2005). In the United Kingdom, about 10,000 tests were done in 2002, the majority on behalf of the state, but today, numbers are probably much higher than this. The largest user has been the Child Support Agency, for the purposes of settling contested paternity where there may be a liability to pay for child support. The second major government use is for the immigration control when eligibility depends on family membership. Other use arises from a wide variety of familial situations where testing involves consenting adults and court-sanctioned testing of children. A best-interests standard is used by the courts to decide whether children should be tested. Until recently, the judicial view was that testing was usually best avoided because it can potentially disturb established family relationships, but today, there is more emphasis on a child knowing his or her genetic parentage (Steiner, 2006; Bainham, 2008). This shift in attitude may have been encouraged by both the easy availability of DNA testing and cases where the results of web-based, unregulated testing have been used to bargain in the shadow of the law, as well as changing attitudes to an individual’s need, or even right, to know the identity of their biological parents and the importance of this to their knowledge of their origins. In the child maintenance situation, there are cases where men have received repayment of child support payments after DNA testing has shown them not to be the genetic father of the relevant child. Such situations can lead to a child losing a social father without gaining access to or knowledge of their biological father (Lynch et al., 2008). Similar disruptions of familial relationships have been reported as a result of using DNA testing for immigration control (Taitz, Weekers, and Mosca, 2002). In many countries, there are categories for immigrants that depend on family relationships, and DNA testing is widely used to provide proof of such blood relationships.
As social scientists have often observed, while maternity is seldom in doubt, paternity can be much less certain: a point that has been at the foundation of some theories of the family and the state (e.g., Engels, 1884). Indeed, functionalist explanations of marriage patterns, the seclusion of women, and much else have been based on this observation – as has a lot of speculation by sociobiologists and evolutionary psychologists. However, in the new moral order where a conscientious lawyer may suggest DNA tests as a sensible preliminary before a divorcing husband considers any child support issues, we may be witnessing a cultural shift. Under English common law, there is a presumption that a child born to a married couple is a “child of the family,” and both mother and father have the rights and duties of parents regardless of the biological origins of a child, unless one of them is able to prove nonpaternity. There are comparable arrangements for most children of unmarried parents. However, it can be argued that in the era of DNA testing, there has been a shift to a situation in which parenthood becomes nearly coterminous with parentage and where the latter is defined by shared DNA sequences (Freeman and Richards, 2006).
The DNA techniques discussed thus far can establish whether or not there is a biological link between two people. Other techniques have been developed which can be used to trace family lineages. Male lines can be traced by investigating the degree of similarity of Y-chromosomes. Because the male’s Y-chromosome is unpaired, unlike all their other chromosomes, it is passed down over generations almost unchanged. This means that men with a common ancestor will have almost identical Y-chromosomes. Y-chromosome tests are available from several companies and are proving popular with genealogists and those interested in family history, as well as providing a powerful research tool for studying human populations. The test may be used, for example, to see if families with the same surname are biologically related. A use of the test which received wide publicity was in the case of the American President Thomas Jefferson and the long-standing accusation that he had fathered a child with Sally Hemings, one of his slaves. Jefferson did not have a legitimate male descendant, so Y-chromosome analysis was carried out on five male (living) descendants of his paternal uncle, Field Jefferson. These were compared with an analysis of DNA from Sally Hemings’ great-great-great-grandson. The Y-chromosomes did match, so that we know that Jefferson (or possibly a blood relative of Jefferson’s) fathered Sally Hemings’ child. DNA testing has the power to rewrite our family history – at least insofar as biological parentage is part of that history – and for some, revised family histories may cause discomfort and changed attitudes toward their forebears.
Similar analyses can be carried out on female lineages using mitochondrial DNA. Female X-sex chromosomes are paired, so would be unreliable for this kind of analysis. However, mitochondria, which are small cell organelles, are passed from a mother to her children in her eggs. Mitochondria have their own genome which can be analyzed and compared in the same manner as the Y-chromosome and can be used to track female lineages. A well-known use of this technique was the identification of the remains of the Romanovs, who had been executed in 1918 during the Russian Revolution. Because the mitochondrial DNA from one female body, recently exhumed, matched that of the Duke of Edinburgh, the body was identified as Nicholas II’s Tsarina, Alexandra. Her maternal grandmother was Queen Victoria who was also a direct ancestor of the Duke of Edinburgh.
Nash (2004) has investigated how ideas of gender, reproduction, nation, “race,” and relatedness are being shaped and deployed within new discourses of genetic kinship which are being established through the use of ancestor testing. Here, notions of family relations provide a “grammar” for translating the complexities of molecular genetics with the biosocialities in the form of Y-chromosome brotherhoods and mitochondrial DNA clan membership. The use of these techniques both by those interested in their family history and by researchers exploring connections of human populations, like DNA paternity and relationship testing, encourages ideas of genetic essentialism and enhances the iconic status of DNA (Nelkin and Lindee, 1995). Necessarily, they equate lineage and kin with a genetic connection, and in confirming notions of the power of DNA, they also underpin a cultural concept of kinship which is biological or, perhaps more accurately, natural at its roots (Schneider, 1980). Schneider in his studies of American kinship describes how natural ties define identity and are a relationship of identity, while love provides a more diffuse familial solidarity. It is, of course, common ground for many theorists (e.g., Giddens, 1991) to point to the declining role of kinship as notions of individualism and independence have grown. But in this context, it is worth drawing attention to the enormous growth in interests in family history in Western Europe and those parts of the world which have received immigrants from the region. Now, the use of official and family records for genealogical inquiry can be supplemented and extended using DNA techniques. Clearly, interest in the connections of descent and kin remain strong and seem likely to receive reinforcement through the possibilities of search and verification provided by DNA techniques.
The oldest of the practices of assisted reproduction are collaborative practices which involve third-party progenitors. The Old Testament (Genesis, 16: 2–3 and 30: 3–5) provides an example in the account of the family of the patriarch, Abraham. His wife, Sarah, had not produced the prophetic son who God had promised. She suggested to Abraham that he should lie with her handmaiden, Hagar, who in due course bore a son, Ismail. Collaborative reproduction raises difficult and controversial issues about the status of the children produced and their place in genealogies – as with the rival claims of Ismail and Isaac, the later born natural son of Abraham and Sarah, which reverberate through religious disputes to this day.
As well as full surrogacy, as we would now term Hagar’s involvement, there is the possibility of artificial insemination and, following the development of IVF, egg and embryo donation and gestational surrogacy (where a woman carries an embryo created with sperm and egg from the commissioning couple). And as well as for the infertile, these techniques are used increasingly by those without an appropriate reproductive partner – single women (and possibly men) and same-sex couples.
Historically, we see resistance to the introduction of all these practices, essentially on the basis of the violation of the moral order of conjugal reproductive intercourse. In Britain, artificial insemination by donor (AID) became part of medical infertility treatment in the 1930s, though there has been earlier suggestion for its use for eugenic improvements (couples using sperm from superior men) or as a way that World War I widows could bear children without “the sin” of sexual intercourse (Richards, 2008). Its medical use in the United States began somewhat earlier, and its products were known as test-tube babies, the children of science rather than married love. In Britain, accounts of the practice in medical journals led to a growing, and largely hostile, public debate. A Commission set up by the Church found that AID
“involves a breach of the marriage. It violates the exclusive union set up between husband and wife. It defrauds the child begotten and deceives both his putative kinsmen and society at large. For both donor and recipient the sexual act loses its personal character and becomes a mere transaction. For the child there must always be the risk of disclosure, deliberate or unintended, of the circumstances of his conception.”
(Wand, 1948, p. 58)
There was also much concern that masturbation was involved. And the Commission called for criminalization (Richards, 2014).
But despite all the disapproval, which was common beyond the Church, the practice grew, not least because there were declining numbers of babies for adoption, which was the only other alternative for couples where the husband was sterile. By the late 1950s, the practice was accepted in the National Health Service, and a decade later, it was given legal recognition so that the couple were the legal parents and all rights and duties of parenthood were removed from the sperm donor.
The United States pioneered the commercial cryobanking of sperm with the first sperm bank opening in 1977. By the 1990s, there were a few large operators dominating a $164 million-a-year industry (Mamo, 2005). Following the development of IVF, companies were set up to supply egg donors. But what is striking about this reproductive industry are the sharp differences between the sperm and egg trades. In an analysis of the US market for sex cells, Almeling (2011) found that while both women and men are drawn to “donation” for financial reasons, egg agencies and sperm banks do business in different ways. Sperm donors are encouraged to think of the money as remuneration for an easy “job,” while women, who are better paid, are urged to regard egg donation in feminine terms, as the ultimate “gift” between women. And very significantly, the men and women saw their connection with the children produced in different ways. Most men stated that the offspring were their children, while only a tenth of the women said this. Sixty percent of the women were explicit – these were not their children; only 15% of men said this. Another way of describing the difference is in the use of kin language (parents, grandparents, siblings). Eighty-five percent of the sperm donors used kin language in contrast to 42% of the women.
Looking at egg and sperm donation more internationally, we see a great diversity of regulation and practice. In a few countries, like the United States, there are commercial markets, where sex cells are directly traded for money – commodification as some would term it. But elsewhere, trade in human tissue is banned, and instead, egg and sperm donation is rewarded through the payment of “expenses.” In a few situations, donation is indeed a gift, and no money changes hands, as in most intrafamilial donation. In Britain, for example, intrafamilial egg donation is not uncommon, with sisters or sisters-in-law being the most usual donors (Vayena and Golombok, 2012).
But the practices of sex cell donation are themselves widely regulated, and there are countries that ban either egg or sperm donation or both (Gȕrtin and Vayena, 2012). And this, coupled with variations in costs, has produced a growing phenomenon of transnational donation (Pennings and Gȕrtin, 2012).
The birth of the first IVF baby in Britain (Steptoe and Edwards, 1978) was worldwide news, but reactions were mixed. As with sperm donor children earlier, these were also called test-tube babies – signaling the conception as disembodied and the product of science. For the cover of Time Magazine, Roger Hysser famously echoed Michelangelo’s creation of Adam from the ceiling of St Peters in Rome, but he added the hand of a scientist to that of God, pointing to a test tube containing a fertilized egg. Some regarded this new technology as a further threat to the natural order of marital congress and conception and the institutions of marriage and family, while some feminists saw “a great technological fuck” (Raymond, 1994) and an attempt to stabilize patriarchal social relations (Spallone, 1987).
There is now a considerable body of research on the families and children born of IVF and collaborative assisted reproduction (e.g., Golombok et al., 2002a, b; Blake, Richards and Golombok, 2013). Very broadly speaking, in terms of parent–child relationships and the development and well-being of children, few differences have been found between IVF families and those with traditional conception. Some studies have found that IVF mothers may see their children more positively and are seen to be more affectionate. This has been attributed to couples’ prior infertility and struggles to conceive – these are special children. Where reproductive donation has been used “as if,” families may be created by a systematic misrecognition (Bharadwaj, 2003), and in Britain, for instance, most children are not told of their donor origin and are brought up allowing children to assume that they are the natural children of their parents. It is often clinical practice to “match” donors and recipients, in the hope that there will not be any striking physical dissimilarity between children and parents which might cause doubt to be cast over parentage.
There has been ethnographic work on “kinning” where parents actively seek to realign biological and social accounts of reproduction (Grace and Daniels, 2007). Thompson (2001) has described “doing kinship” in US fertility clinics. So, for example, a mother who had used donor eggs from a friend stressed the small percentage of pregnancy involving the gamete and embryo stage, so minimizing the biological contribution of the egg, while emphasizing the biological significance of her gestational role. She also pointed out that she and her friend (the donor) shared a common genetic pool as they came from the same ethnic background. The bonds of friendship between the donor and the mother allowed the donor’s relationship to the baby to be seen as an enhancement of that friendship. In another case where a husband’s sister was the gestational surrogate, she was seen as having a custodial role only – providing a location and nurture for fetal development. “The children were fine with their auntie but could not wait to be reunited with their parents.”
Perhaps the deepest divide in opinion regarding collaborative reproduction – and especially sperm donation – is whether or not children should be told of their donor origin or the identity of their donor. In the early days in the United Kingdom (and elsewhere), it was assumed by all parties that the whole practice would be based on secrecy. Parents would know nothing of the donor, who in turn would learn nothing of the outcome of the use of his sperm. Children would not be told of their donor origin to protect them from knowledge of their (then) illegitimate status and fathers from wider knowledge of their infertility. Later, when the legal situation was changed, and when attitudes toward male infertility had perhaps modified and it was less often seen as threatening manhood, it was increasingly believed that children should know the manner of their conception (but not the identity of their donor). The main arguments for this were that it would avoid family secrets and the children would learn their genealogy and full life story. It was also seen as a way of preventing unwitting incest – that a donor offspring might meet and marry another child of the same donor. Chances of that would, of course, be very remote, but it has been one of the persistent anxieties about AID and has led to restriction in the number of times sperm from a donor could be used. Anthropologist Janet Carson (2004) has noted that contemporary social worries about transgressive assisted reproductive practices are often phrased in terms of familiar anxieties about kin relationships such as those surrounding incest, adultery, divorce, and adoption. When AID was regulated in the United Kingdom under the Human Fertilization and Embryology Act of 1990, arrangements were put in place to record information about donors. When donors’ children reach adulthood, they are able to access that donor information – but not names. But since that time, arguments have moved on. Increasingly, claims have been made that children have a “right” to knowledge of the identity of their donor. By this period, the nature of the link between donor and offspring was typically described as a “genetic” connection. And a new claim arose, that a child would not have a complete “genetic identity” if they did not know the identity of their donor. Such claims carried the day, and regulations changed and donor anonymity was ended – as had happened in a number of other countries. Space here does not permit a detailed analysis of the concept of genetic identity (but see Richards, 2014). But, suffice it to say, while it might sound rather significant and important, it is an empty concept, born of DNA and paternity tests and essentialist notions of DNA genetics – comparing DNA samples may provide a way of identifying people, but DNA genetics do not make us who we are; genes are not us.
However, not all arguments for openness in donation rest on the flawed concept of genetic identity. Wilson (1997), for example, put forward a plausible “narrative” notion of identity in which she sees identity as the different threads of narrative which people use to represent and to reflect on their lives. It is a notion of identity which is influenced by interactions and relationships with others and which helps to explain the significance of the past (including, of course, the manner of their conception) to many people’s feeling of identity.
Of course, some children do grow up with knowledge of their donor origins and sometimes know who their donor is. The little evidence available on the matter suggests that when children are brought up with knowledge of their origins, this can have a beneficial effect on parent–child relationships (Golombok et al., 2002a; see also Haimes, 1998). It is also worth pointing out that though most children may not know about their biological origins, most parents tell other family members or friends about the manner of their conception (Golombok et al., 1996). This means, together with easy access to DNA relationship testing and the growth of clinical genetic testing, that children are increasingly likely to discover their “nonpaternity.” Those who discover their origins (or are told) as teenagers or adults may be angry and resentful of the way they have been misled by their parents and the professionals involved (Donor Conception Support Group of Australia, 1997; Turner and Coyle, 2000).
In the United Kingdom, as in many other countries, there are differences in the ways in which the children of donor conception and those of adoption are regarded. Almost all adopted children are told of their origins and given information about their birth parents. Increasingly, adoption is “open,” with the possibility of continuing contact for children with their birth parents. Research suggests that adopted children benefit from openness (e.g., Grokevart and McRoy, 1998). In the United Kingdom, adopted children at 18, following counseling, have access to their birth certificates, and significant numbers use this information to try and trace their birth parents. The most common motive for doing this is for a sense of genealogical connectedness with forebears (Howe and Feast, 2000). There also may be issues for them about self-worth related to the reasons why their birth parents gave them up for adoption, and for some, there is the possibility of a continuing relationship with the birth parent(s). In Howe and Feast’s (2000) study, a third of those who tried to make contact were either rejected by the birth parents or found the contact unsatisfactory, but even these young people said they were glad to have made the search and to have “completed the jigsaw.” Eight years after having made a satisfactory contact with a birth mother, more than half the adopted children maintained a relationship with her. Strathern (1992) suggests that kinship talk is about the manner in which social arrangements are based on and provide the cultural context for the natural processes of reproduction and, we might add, also the less than natural arrangements that are made for the use of assisted or “artificial” reproductive technologies.
Since the mid-1990s, there have been intensive efforts, accelerated by the information from the Human Genome Project, to identify the genes with mutations that are associated with the Mendelian or single-gene diseases. Identification of the genes and their mutations opens up the possibility of genetic testing, which is now available for many of the 5000 or so of these genetic diseases. All are rare, and many are only recorded from a handful of families, but taken together, they may affect up to 5% of the population. In terms of causation, these diseases may be regarded as a genetic spanner in the works. A fault in the gene – a changed DNA sequence – which may be passed from parent to child, means that the protein which the gene is involved in producing is changed, so that it cannot perform its usual functions, and hence the disease. In the dominantly inherited Mendelian diseases, having a single faulty gene is usually sufficient to cause the disease.
One of the first genes associated with a dominantly inherited disease to be identified is that associated with Huntington’s disease. This is a degenerative disease of the central nervous system which generally develops in middle age (most dominantly inherited diseases are adult onset). After about 15 years of increasing physical and mental disability, the disease is invariably fatal. Since predictive genetic testing has been available for Huntington’s disease, families with the condition have been studied by social scientists (Marteau and Richards, 1996; Cox and McKellin 1999a, b). These families have been called the “moral pioneers” of the new genetic era (Cox and Burgess, 2000; see also Rapp, 2000), facing novel decisions about genetic testing, communicating test results to relatives, and, more generally, living their lives in the shadow of a fatal genetic disorder which remains incurable. As with any dominantly inherited disorder, children of an affected parent have a 50% chance of inheriting the mutated form of the gene which leads to the disorder. Probably, about 10% of those in that situation have chosen to take the genetic test which tells them whether or not they have the gene mutation (Marteau and Richards, 1996; Harper, Lim, and Craufurt, 2000). “While there is uncertainty, there is hope” is the way one family member described their decision about testing (Wexler, 1979). In these families, as those with other gene diseases, communication about the disease is primarily undertaken by the women. They are the “kin keepers” or “genetic housekeepers” and are more likely to use genetic testing than the men (Richards, 1996, 1998). Perhaps more surprising is the very limited use made of fetal genetic testing by affected parents. Perhaps there is an issue of identity here. To abort a fetus that has the gene mutation is to destroy an individual that has the same gene mutation as the affected parent.
With the recessively inherited diseases, only those with mutations in both their copies of the relevant gene develop the disease; those with a single copy are normal carriers. These are diseases which typically develop at or soon after birth. Better-known examples here are thalassemia (particularly common in Mediterranean and Middle Eastern populations), cystic fibrosis (northwest Europe), and Tay–Sachs disease (Ashkenazi Jewish populations). Carriers of recessive disease may have an evolutionary selective advantage over noncarriers in these conditions. Thus, carriers of thalassemia and sickle-cell disease have resistance to malaria, while cystic fibrosis carriers are thought to be resistant to typhoid. This evolutionary advantage (despite the likelihood of producing children with the disease) may account for the relatively high frequency in carriers in certain populations.
In some of these cases, population-screening programs have been set up. In Cyprus, where about a fifth of the population are carriers of thalassemia, couples are screened before marriage. When both are carriers, they then use prenatal diagnosis and abortion. This has virtually eliminated the birth of affected children on the island. Previously, healthcare of the affected children during their short lives had accounted for a significant proportion of the island’s total healthcare budget (Cowan, 2008). In parts of the United Kingdom, pregnant women are tested for cystic fibrosis carrier status; if they test positive, their partner is tested, and where both are positive, prenatal diagnosis with the possibility of an abortion of an affected fetus follows. But in most parts of the United Kingdom, such screening is not offered, and most carrier couples discover their status when a child with cystic fibrosis is born. This may then pose a profound dilemma for couples who want further children. Should they use prenatal diagnosis and abortion to avoid the birth of another child with the same condition as their existing child?
In some orthodox Jewish communities in North America and elsewhere, where prenatal diagnosis and abortion are not acceptable, young people are screened for Tay–Sachs carrier status. To avoid the possible damage to self-esteem that knowledge of carrier status can bring, or of blighting marriage prospects, results are not given to the young person but to the matchmakers that some communities use, who then avoid coupling two carriers. Where matchmakers are not used, there are schemes which offer young people a choice of receiving their own results or a personal identification number. This number then can be used together with that of a potential partner to determine whether or not both are carriers. In this way, young people avoid learning their carrier status except when both they and a potential partner are carriers.
Another way of avoiding the birth of affected children without the use of abortion is to employ preimplantation diagnosis. This involves IVF, and a genetic test is carried out on the embryos before implantation. Only those embryos not carrying the relevant gene mutation are then implanted. But, partly because of the low success of IVF programs (not much more than 20% of IVF treatments for couples lead to a pregnancy) and the high cost, this technology is not very widely used.
The recessively inherited conditions also provide one of the very rare examples of a genetic disease for which there is a cure (more or less) brought about through environmental manipulation. This is phenylketonuria (PKU). Those affected lack an enzyme which is necessary to digest a commonly occurring food component. This leads to accumulation of by-products in the body which may cause permanent brain damage, especially during childhood while the brain is still developing. But, by avoiding the relevant dietary constituent in childhood, brain development is largely normal. In many countries, babies are screened at birth (a Guthrie heel-prick blood test), and affected children (approximately 1 in 10,000) are then put on a special diet (Paul, 2002).
The final category of Mendelian single-gene disease which should be mentioned is the X-linked diseases such as Duchenne muscular dystrophy or fragile X syndrome. These diseases result from mutations from genes on the X-chromosome, one of the sex chromosomes. While women have paired X-chromosomes, men have an X and a Y. This means that if there is a gene with a potential disease producing on one of a woman’s X-chromosomes, it is likely that she will have a normal copy of the gene on her other chromosome and hence no disease. But, if a man inherits an X-chromosome to “balance” this, disease results. Thus, X-linked conditions are generally confined to males but are inherited from their mothers. As has been reported in psychosocial studies of families which carry Duchenne muscular dystrophy, this gendering of the disease can produce difficult and complex dynamics in families (Parsons and Bradley, 1994).
As these new genetic technologies have been developed and deployed, there has been a systematic exploration of the lived impact of genetic understanding with families with genetic disorders, how they may communicate, or not, about their shared heritage, and such work has not only opened to scrutiny, a little explored aspect of family life and kinship, but has provided a knowledge base from which to develop genetic counseling and other aspects of clinical genetic services (Featherstone et al., 2006).
Novas and Rose (2000) suggest that the key event in the development of genetic testing has been the creation of the person genetically at risk. This risk, it is argued, induces new and active relations to one’s self and one’s future as it generates new forms of “genetic responsibility” placing affected individuals and those at risk within new communities of obligation and identification. This may, it is claimed, transform the relations between patient and expert. “The birth of the person ‘genetically at risk’ is part of a wider reshaping of personhood along somatic lines and mutation in conceptions of life itself” (p. 486). Others have argued that a new kind of public health practice is being created based on a new concept of genetic risk (Petersen and Lupton, 1996; Petersen and Bunton, 2002). Whether or not there is a wider issue of geneticization at play here is an issue we will return to later.
Our discussion thus far has focused on the relatively rare genetic diseases. However, there has also been a major research effort, largely through the genome-wide association studies, to identify genetic variants which might be associated with common “complex” diseases such as coronary heart disease, diabetes, and Alzheimer’s disease. Many common genetic variants have been linked to such diseases. However, these tend to be weak associations, so predictive power of genetic tests using these variants is generally low. However, such tests have been developed for genome profiling which are now offered in direct-to-consumer personal genome testing by companies such as deCODEme and 23andMe. While these promise information which will empower prevention of common diseases, the useful information they may provide at present remains rather limited (Richards, 2010).
In the clinic, we begin to see the use of whole exome sequencing (ES) which is a targeted approach to sequence the coding regions of the human genome to identify genes associated with disorders (Biesecker, 2010). At present, ES is being used on a more or less research basis in situations where there are indications of an inherited disorder but the genetic basis is unknown. But critically, while the approach may identify the genetic basis of a condition, it will also reveal a great deal of information about other possibly significant genetic variations which may have clinical relevance to the patient and other family members. The first social science studies of this approach are just beginning, so we may be able to learn something of the impact of such developing genetic technologies. What is clear is that we are still only at the threshold of an era of medical genetic technology which may yield significant information regarding our health.
The development and implications of contemporary genetics have been a focus for both debate and research within sociology and other social sciences. Much of this research has proceeded under the influence of the geneticization thesis. Abby Lippman introduced this in the early 1990s (Lippman, 1991, 1992). Geneticization was defined as
An ongoing process by which differences between individuals are reduced to their DNA, with most disorders, behaviours and psychological variations defined, at least in part, as genetic in origin. It refers as well to the process by which interventions employing genetic technologies are adopted to manage problems of health. Through this process, human biology is incorrectly equated with human genetics, implying that the latter acts along to make us each the organism he or she is.
(Lippman, 1991, p. 19)
The claims inherent in this definition are clearly far reaching, and it is not surprising that this spawned considerable theoretical and empirical research. However, most of this concerns biomedicine and healthcare and is beyond the scope of this chapter on family life (but see, e.g., Weiner, Richards, and Martin, 2013). However, a popular but contested site for the claims of geneticization has been kinship and family relationship. Finkler (2001) has argued that kinship has been medicalized or geneticized (Gibbon, 2002) by the family pedigrees (or histories) which are created in genetic clinics. However, we should note that these pedigrees are not a recent creation of the DNA genetics but have been a central part of medical genetic practice since its inception in the 1940s and, indeed, were the stock in trade of the early twentieth-century eugenic movements in the United States, Britain, and elsewhere (Bashford and Levine, 2010). More generally, common themes in nineteenth-century fiction concern inheritance in families and secrets of descent and forebears, as well as madness and other “bad blood.” Contemporary preoccupations with inheritance may have developed new narratives and themes with the DNA technologies (Nelkin and Lindee, 1995), but the metaphorical DNA, genes, and chromosomes of the twenty-first century (Richards, 2001) resonate strongly with the good and bad blood of Victorian culture and the ideology of eugenics in the twentieth century.
Of course, biomedical researchers do not simply set out to understand our biological world; they also wish to change it. As debates illustrate, public responses and attitudes to new developments are often complex (Gaskell and Bauer, 2001). In discussing attitudes to reproductive and genetic technologies, I want to argue that we are concerned with a particular set of values and a culture concerned with the maintenance of the boundary between the natural sphere of reproduction and the social sphere of family and kinship. Strathern (1992) and Edwards et al. (1999) have suggested that human reproduction is seen, at least in Europe and societies derived from these, as belonging to the domain of nature, not the domain of society, and the two are connected by concepts of kinship. It is important to note that the domain of nature referred to here is not the scientific world of biology but rather a cultural conception of nature (see Yanagisako and Delaney, 1995). Where technologies threaten to shift this boundary and extend the reach of society into the domain of nature, there is unease and resistance. In the modern period, the first major assault on this boundary was the increasing use of contraception, or the artificial methods of birth control, as they were termed, from the latter part of the nineteenth century onward. In 1877, there was the famous case in which Annie Besant and Charles Bradlaugh were convicted for distributing a book which described methods of birth control which was held to be obscene. After some initial hesitation that the availability of birth control might encourage the genetically well endowed to have smaller families, eugenicists did much to increase the knowledge and availability of contraception in many countries. In Britain, Marie Stopes set up her clinic for mothers in a poor part of London in 1921 as part of the activities of her Society for Constructive Birth Control and Racial Progress. Such efforts were swept along by the rising tide of eugenics, which, of course, also forcibly controlled the reproduction of those deemed unfit through the policies of institutional segregation and sterilization (Kevles, 1985; Paul, 1998; Bashford and Levine, 2010). However, there was continuing opposition from sections of the population that regarded (artificial) birth control as unnatural and against nature. In Britain, it was not until 1974 that contraception, as it was now known, and which by then included the pill, was generally available through doctors in the National Health Service. Today, the right to “found a family” is included in the Human Rights Act of 1998, and there was a general acceptance of a notion of reproductive autonomy allowing individuals the freedom to choose to have or not to have children (Jackson, 2001).
From the 1950s onward, the development of techniques for prenatal screening and diagnosis provided new methods for choosing what kinds of children to have or not have. There has been extensive research on attitudes toward the use of these techniques. In Britain, as elsewhere, there is strong endorsement for the availability of fetal tests and abortion for serious disease and disability (see Richards, 2002). But support falls off when conditions that develop later in life are involved, or those involving, for example, a restriction of growth. Data from the British Social Attitudes Survey indicate that, while almost 90% of respondents thought it was right for women to have an abortion if a fetus they carried had a serious mental or physical disability, this fell to 60% if a healthy fetus carried a condition likely to lead to death in their twenties or thirties and 48% if a healthy fetus would be restricted throughout life to the height of an 8-year-old child (Statford, Marteau, and Bobrow, 1999). Many opinion surveys on these issues have included questions about the use of techniques to select the sex of a baby. These show that an overwhelming majority of both the public and professionals reject the use of such techniques for sex selection, and this is banned in many regulated systems (McMillan, 2002). Given that in countries such as the United Kingdom, where the predominant preference of parents is to have children of both sexes and the use of sex selection is unlikely to distort the sex ratio or be damaging in other ways (Steinbock, 2002), at first sight, the strength of the opposition to this use of technology is perhaps surprising. However, here, we are concerned with what are widely termed “designer babies.” Attitudes are very different toward the use of technology to avoid the birth of babies with serious conditions and cases where the aim is in some way to enhance or choose a baby’s characteristics. Overall, there is a strong public approval of the use of biotechnology to prevent or treat disease (Gaskell and Bauer, 2001). However, to use techniques to determine any attributes of an unborn child is seen as something quite different. Once again, it is the boundary between the social and the natural domains which is violated. Here, using biotechnology is seen as “playing God,” or being against “nature” or the natural order of things (Wagner et al., 2002). The other area of reproductive technologies where we find strong public and governmental opposition is with reproductive cloning. Here again, the natural order is disturbed. Cloning – assuming of course it becomes possible – would permit a predictability of the reproductive outcome as well as the foregoing of the natural union of egg and sperm. An inherent characteristic of the natural processes of reproduction is a capricious uncertainty of the outcome. Broadly speaking, children show a mixture of the characteristics of their parents. They demonstrate familial traits. However, the combinations and mixtures lead to unpredictable and unique characteristics. When at birth, a baby first enters the visible world, the same questions reoccur – “Is it a girl?,” “Is it a boy?,” and “Is it all right?” – and mothers as well as doctors and midwives count fingers and toes. Of course, other technologies, first X-rays and ultrasound, have made the unborn baby potentially visible (Oakley, 1984). But, interestingly, while these techniques are used to reveal physical abnormality as part of prenatal screening, in many situations, parents do not learn the sex of their unborn child. This is either kept hidden from them or they do not choose to know it before the birth. And, of course, the personality and physical appearance of babies remain unseen until after birth. The social child remains invisible. So, a boundary between the social world and nature remains intact.
We may also notice that birth provides a boundary after which the enhancement of bodily and mental functions becomes commonplace, in contrast to the general rejection of such possibilities before birth. Even young children may be subjected to cosmetic surgery or have their height enhanced with growth hormones. We pin back ears, fix teeth, or even provide adolescents with breast enhancement. But modification before birth – except to correct serious malformation – is not done, nor is any modification of the genes to be passed to future children permitted. Birth marks a boundary. We permit (in the United Kingdom, under license) genetic therapy of the already born – though, as yet, success in such experimental therapy has proved largely elusive – but modification of future children through germline therapy is not permitted. Yet, it is difficult to see why there should be objections were we able to safely restore the function of the gene in devastating disorders such as Huntington’s disease.
We could argue that the commodification of gametes in IVF and donor insemination is part of this same boundary maintenance. Reducing the reproductive processes of the production and donation of eggs and sperm to the provision of “genetic material” denies and excludes the social actions of donors from a part of the “natural” reproduction by the couple receiving treatment. They are effectively written out of the story of the origins of the child, and so an apparently natural process of reproduction has taken place. Strategies for “naturalizing kinship” in IVF clinics may be seen in the same way (Thompson, 2001).
Of course, current boundaries may shift, and indeed, many have suggested that they will do so. In the end, pragmatism may rule for many. However, there may be a boundary which will prove robust. What is certain on the basis of current practice is that almost all parents, despite the possibilities of using gametes from all manner of desirable sources, prefer to have their “own” children conceived by their own egg and sperm brought together through sexual intercourse (Richards, 2002).
The new DNA technologies have not been with us for very long, and we have only begun to observe and analyze the ways in which they may play a part in family life. In the words of the old country song, “we are living in the future, where we have never been before,” and it is not possible to see ways forward very clearly. DNA relationship testing allows a new explicitness in familial (genetic) connections, and I have suggested that their use may serve to further emphasize, and indeed define, relationship in terms of shared DNA sequences. Here, as with the use of reproductive technologies, international markets become important. A country may attempt to regulate access to certain technology, but its citizens are free to travel or to access global markets from their homes using the Internet. In the case of the United Kingdom, the use of ARTs has been controlled in line with past practice and, as far as possible, with the model of “natural” heterosexual reproduction. But medical tourism allows visits to the uncontrolled marketplaces; for example, gay men may seek egg donors (at a price) and birth mothers. Many travel from Europe to the unregulated clinics of the United States and the Far East, just as others surf the Net and travel to find babies for adoption, or sources where they can buy body parts for transplantation.
I have suggested that we see resistance where new technologies threaten to change the boundary between the social world of human actions and activity and the unseen domain of nature. “Artificial” birth control has shifted that boundary, and what was once discouraged by law has been renamed contraception and has become part of conventional medical practice, commerce, and family life. With the exception of some minority religious dissent, contraception has become an accepted part of daily life. Perhaps we shall see a similar shift in the boundary which currently determines the acceptability of gene and reproductive technologies. There is a wide acceptance of the genetic technologies which permit diagnosis and prediction of genetic disease and the possibility of avoiding the birth of affected children by using prenatal diagnosis and abortion or preimplantation diagnosis and embryo selection. Similarly, postnatal somatic gene therapy, while still largely a biotechnological aspiration, enjoys wide public support and encouragement. The current boundaries for resistance lie where prenatal selection (or treatment) moves from avoiding serious disease to the selection on the basis of social preference and prenatal enhancement. It is acceptable for parents to choose to select against a fetus with a serious genetic or congenital abnormality, but not for them to choose to use sex selection (or indeed, for deaf parents to choose to produce their desired deaf child). Having avoided predictable abnormality, reproduction is left to the vagaries of natural uncertainty, but wherever possible using parental sperm and eggs. “Designing” a baby to have desired characteristics or replicating an individual by reproductive cloning (were this to become technically feasible) is seen as steps too far. Indeed, approaching this boundary is usually seen as the beginning of the slide down a “slippery slope” which may lead to the boundary being shifted. However, if the history of contraception is any guide here, we may indeed be on a slippery slope, and one day, prenatal enhancement and the design of babies will become accepted social practice, assuming that there are widespread social pressures for these. When techniques become available which allow selection or modification of the unborn in ways that are seen to be socially desirable or useful, their use is likely to become acceptable. Then, a further part of the natural world will have been successfully colonized by the social.
My thanks are to Sophie Zadeh for her helpful comments on a draft of this chapter and to Gill Brown for her secretarial assistance and to Alison Krauss, The Be Good Tanyas, Blueflint, The Cox Family, Buddy Holly, The Low Anthem, The Flatlanders, Kitty Wells, The Everly Brothers, and Roy Acuff for their support.