The Future of Our Families? – ‘My Sister’s Keeper’ (Picoult, 2004)

July 24, 2007

To date only a handful of, so called, ‘saviour siblings’ have been born worldwide. These children (the oldest is now 8 years old) were conceived by IVF and have been specially selected to be tissue matches for an existing, ailing sibling. In general, these siblings suffer from incurable – though often treatable – anaemias or leukaemias, some of which have a genetic component. Their newborn siblings, as the term saviour suggests, are ‘designed’ to save their lives. This is the background to American author Jodi Picoult’s 2004 novel My Sister’s Keeper. The story follows sisters’ Kate and Anna Fitzgerald as they, and their family, confront extraordinary circumstances.

Picoult (2004). My Sisters Keeper.

Picoult (2004). “My Sister’s Keeper”. Hodder and Stoughton: London.

Kate, 16, who suffers from Acute Promyelocytic Leukemia (APL) – a rare and aggressive form of cancer – is dying. Her younger sister, Anna, 13, was born to be her ‘saviour’. Anna is an human leukocyte antigen (HLA) matched donor for Kate, and while in real cases it is only umbilical cord blood that has been donated, Picoult’s novel imagines a situation in which much more is required. As Picoult’s story progresses we learn that Kate did indeed receive a transfusion of cells taken from Anna’s umbilical cord blood. This blood, rich in compatible stem cells, was intended to repopulate her bone marrow and effectively cure her leukaemia – a treatment which apparently worked. However, as is obvious from what, in the book, constitutes the current situation, this was only a temporary phenomenon. Picoult’s Kate suffers a relapse, which, following initial treatment with Anna’s compatible platelets and ultimately her donated bone marrow, locks them both into a seemingly endless cycle of, not only, operations and hospital visits, but also, responsibility, guilt, love and resentment.

Over the years Picoult describes the numerous procedures the character Anna goes through in her unchosen efforts to fulfil the role of ‘saviour’. This culminates in the prospect of kidney donation – the book’s present day. Faced with this Anna hires a lawyer, Campbell, and takes her parents to court in order to “petition for medical emancipation” (Picoult, 2004: 49). The book follows the build up to, conduct and aftermath of this action, through which Anna fights for the right to refuse this donation – an outcome, both she, and her family, know Kate will die without.

As with many works of fiction, Picoult takes current science, imagines ‘what could be’, and explores some of the social, psychological, emotional and – in this case legal – consequences that might follow. As a work of fiction My Sister’s Keeper seems a scarily realistic, though also, moving picture of a normal family under extreme pressure. However, as a source of insight into the ethical dilemmas presented by the creation of ‘saviour siblings’ it also has its value. While not presenting arguments according to philosophical principles, this book functions as a very effective exploration of possible social implications and potential endpoints of the use of HLA typing in this way. Below are just some of the common bioethical concerns about the creation of saviour siblings that My Sisters Keeper addresses (the page numbers given here refer to episodes, conversations or interactions within the book that highlight each issue particularly well):

  • The welfare and best interests of the child to be born – pages 286-289 illustrate how the donation of umbilical cord blood may turn into a succession of more invasive and therefore more ethically problematic donations, also how, in practice, the best interests of the saviour sibling may be balanced against those of the child to be saved
  • The instrumentalisation of the child – pages 64-65 and the bathroom scene on page 25 show the Fitzgeralds as a complete family with Anna as an addition only to save Kate, while pages 53-54, 196-197 and 405-407 show her as a loved and valued family member, just like any other
  • Consent – pages 20-21 and 292-296 provide a good illustration of how consent to non-therapeutic medical treatment (e.g. bone marrow or blood donation) is handled currently for minors
  • The long-term experience of the child – pages 1-2 and 89-90 are short but powerful examples of how Anna, at 13, experiences being a saviour sibling, and how that knowledge has become a part of her identity.

These themes are explored in greater depth in the BioethicsBytes Extended Commentary that accompanies this post. The commentary also highlights how Picoult’s story emerged from ethical arguments around the creation of saviour siblings in reality, and how My Sister’s Keeper elaborates some of these arguments through the multiple viewpoints of the characters and their interactions.

My Sister’s Keeper was written by Jodi Picoult, and published in the UK in 2005 by Hodder and Stoughton, London. ISBN: 9780340835463.

Update 4th April 2015: The film adaptation of My Sister’s Keeper is now available to members of subscribing institutions via Box of Broadcasts.


The Day Family – Bitter Inheritance (5)

July 24, 2007

In many ways, this final episode of the Bitter Inheritance series offers the clearest potential for use in teaching about genetic diseases.  This is partly because the focus is on Huntington’s disease (HD), a well-known and well-studied condition, but also the fact that the dilemmas the Day family go through paint a very vivid picture of the implications for the wider family of both the disease itself and of choosing whether or not to take a genetic test. HD is an autosomal dominant disorder of the nervous system – if you have the faulty gene you will get the disease.  It is a late-onset disease, symptoms normally start to appear when the sufferer is around 40 years of age and there will be progressive neurodegeneration over a 10 to 15 year period. The fact that the symptoms are not evident until that time means that people have often had their own children by that time, with a 50% chance that they have passed on the disease. Read the rest of this entry »


The Costello Family – Bitter Inheritance (4)

July 24, 2007

This documentary tells the incredible story of Jim Costello. Jim suffers from a rare autosomal dominant genetic disorder called ‘Gorlin syndrome’, which causes the extensive formation of basal cell carcinomas (a type of skin cancer) and jaw cysts. One of the unfortunate consequences of this syndrome is the subsequent deformed appearance of the individual, which can lead the patient feeling isolated. Furthermore because Gorlin syndrome has a wide range of symptoms it is often misdiagnosed and treated inappropriately. In response to these factors, Jim embarks on a journey across the Atlantic in his quest to set up a support group to help bring together and educate scientists, doctors and sufferers. Jim reflects on how the disease has affected him and his family, “I could cope knowing it was just me who had it, but to realise that I’d passed this on unknowingly to my girls was pretty bad”. But, although there is no cure, there is hope that a new treatment, ‘photo dynamic therapy’ may hinder the progression of tumour formation in Jim’s two daughters, so they do not become as affected as their father (00:21:34). It is also hoped that such treatment will save the sight in Jim’s remaining eye. Read the rest of this entry »


The Needell Family – Bitter Inheritance (3)

July 19, 2007

This 40 minute documentary follows Juliet and Rob’s struggle to start a family, and how they turn to Pre-implantation Genetic Diagnosis (PGD) to help them in their quest. With an extensive history of miscarriages, Juliet reflects on how it feels when she falls pregnant “As soon as you find you are pregnant you just get this terrible feeling that, Oh God here we go again”. Due to this history, the couple opt for PGD, described in the programme as a “highly controversial treatment”, in order to select healthy embryos. Juliet is a carrier for a chromosomal abnormality in which large fragments of DNA have swapped places between chromosomes. Known as a ‘translocation’, this disorder does not prevent a woman becoming pregnant but the foetuses cannot develop correctly and a miscarriage is routinely induced. The couple describe how “absolutely terrible” it was when Juliet did actually give birth to a premature baby who was born with some abnormalities but later died (00:04:24 to 00:06:38). This programme provides an excellent insight into both the practicalities of PGD and the emotional hurdles the procedure brings. Read the rest of this entry »


The Allen Family – Bitter Inheritance (2)

July 19, 2007

By a “cruel stroke of genetic fate”, the Allen family turn out to be affected by not just for one, but two horrendous genetic diseases. This programme, the second in the Bitter Inheritance series on genetic disease, begins by telling the story of Bethany, a young girl who was born with Sanfilippo syndrome. (Further information about this disease can be found at this BBC website). This is a rare autosomal recessive disorder, i.e. you need to inherit a faulty copy of the relevant gene from both parents. The disease causes the progressive degeneration of both the nervous system, including the brain, and will ultimately lead to Bethany’s death, probably during her mid-teens. With no cure available, the family frequently express their feeling of helplessness and frustration.  As John, her father, states “when you are told that your daughter is going to die… you can’t imagine it”. The family is provided with much support by friends and doctors who reassure the parents that she is happy and that “she’ll never know she has got it, and she’ll never be in any pain”.

After much deliberation, Bethany’s parents (00:04:24) decide they want to try and have another child. Without any sort of medical intervention, there is a 1-in-4 possibility that the new child will also have the syndrome. This raises a clear ethical question – knowing those odds, should the parents continue? If they do take that risk, are they prepared to abort an affected foetus? As it turns out, the new child is not a sufferer, but clips show the emotional rollercoaster taken by both parents along the way and the difficult decisions the have to make (00:19:50 to 00:20:32 and 00:30:19 to 00:38:20).

Whilst all of this is going on, it turns out that Bethany’s grandmother has Huntington’s disease (HD). Like Sanfilippo Syndrome, HD is a progressive neurodegenerative disease, but it differs both in the way it is inherited (in an autosomal dominant fashion, i.e. if you’ve got one copy of the gene, then you will get the disease) and at the time of onset (a sufferer normally starts to show symptoms in their 40s rather than aged 2 to 4). A section halfway through the episode (00:23:05 to 00:28:17) shows the burden on the already emotionally-strained family; as Jo, Bethany’s mother, puts it “If you think about it too much, you would crack up”. Jo’s sister summarises the nightmare scenario which might unfold over the next ten years: “For Jo, she could have a mother that’s ill [with HD], a daughter who’s sick [with Sanfilippo], a sister who is seriously ill [with HD] and find that she is also seriously ill [with HD]”. Read the rest of this entry »


The Gorry Family – Bitter Inheritance (1)

July 19, 2007

Bitter Inheritance is a series of five programmes looking at genetic diseases. In this first episode we follow the story of the Gorry family as they discover the reason behind a long history of devastating sudden deaths in the family. The lucky diagnosis of a distant relative with the rare genetic heart defect ‘Long QT Syndrome’, also known as Sudden Death Syndrome, starts a race against time to track down and test all relatives within the family, in the hope of saving as many lives as possible. This disorder results involves an abnormally long delay between the electrical excitation and relaxation of the ventricles in the heart, which can lead to syncope (fainting) or sudden death due to ventricular fibrillation. Once diagnosed, however, the patient can take a daily beta-blocker which essentially allows them to lead a normal life.

The story illustrates both the jubilation when a relative is found in time and the distress when the family’s efforts were in vain, including one time when they were literally two weeks too late (00:10:40). The programme raises an interesting ethical question, one that crops up in later episodes too, concerning who has a right to know genetic risk factors – the individual tested or the broader family?  (This issue, incidentally, was the subject of a recent debate in the British Medical Journal.  The full article is now password protected but a summary derived from a press release can be found here).  Read the rest of this entry »


Designer Babies – three documentaries

July 12, 2007

The term ‘designer babies’ is one frequently used in the media, though scientists find it ‘slippery’; geneticist Steve Jones says “the phrase ‘designer babies’ just fills me with despair; it promises so much, but delivers nothing”.  Instead, scientists such as Jones would generally prefer to consider individually the variety of technologies that are embraced by the term, notably pre-implantation genetic diagnosis (PGD), gene therapy and genetic enhancement.  Other entries on the BioethicsBytes site have reviewed resources about these developments (see, for example, the post on the A Child Against All Odds series and Bioethics Bytes Guide to Streamed Media for discussion of PGD, and Horizon: Trial and Error on gene therapy).

 

Having said that, this entry is headed Designer Babies because the phrase has been used directly in the title of a number of documentaries, including the three programmes discussed here.  These are: Life and Death in the 21st Century: Designer Babies (Horizon); Who’s Afraid of Designer Babies? (also Horizon); and Designer Babies (National Geographic). Each episode will be considered in turn, and some comparisons and recommendations are drawn together at the end.

 

Life and Death in the 21st Century: Designer Babies
The BBC Horizon series marked the millennium with a series of three programmes examining the potential impact of science on human life in the near future.  The final episode, Designer Babies (6th January 2000; TRILT identifier: TVI16522) had actually been broadcast previously under the title Babies of the millennium: designer babies (7th April 1999; TRILT identifier: TVI4440). A transcript of the programme can be found on the BBC website.

 

We will only discuss this episode briefly, since the 2005 Horizon Whose Afraid of Designer Babies? is, to a large extent, an updated version.  This programme considers many ethical issues, focused around two core questions: Can scientists create designer babies and, if they can, should they do so?  The episode opens with a number of prominent scientists and ethicists giving their views, and this could serve as a handy scene-setter for a classroom discussion.  Indeed, the main value of this particular programme is the barrage of quotable quotes (the transcript, linked above, is very helpful in this regard). Not least Princeton Geneticist Lee Silver’s closing comment “In a society based on market principles I don’t think there’s any way to stop the use of this technlogy by those who  have money”.

 

Initially, the episode focusses on the Abshire family.  Maigon Abshire, the first daughter of Renee and David Abshire, died aged three from TaySachs, a disease of the central nervous system.  Desperate to avoid their next child having the same fate, the Abshires were the first in the USA to use pre-implantation genetic diagnosis (PGD).

 

Later, there is discussion about the production of Dolly the Sheep, and more particularly Polly, who was the first evidence that the cloning process can be tweaked to include the addition of new genetic information into an embryo and, hence, into all the cells of the resultant organism. In the case of Polly, the human gene for Factor 9, a protein involved in blood clotting, was introduced into an egg at the start of the cloning process.  The resultant sheep produced large amounts of Factor 9 in her milk.

 

Finally, there is discussion of how much of our adult form, both our physique and our character, is down to our genes (a rehearsal of the nature v nurture debate), and consideration of the expense of the processes, with the concern that the benefits of the technology will only be available to the rich.

 

Who’s afraid of Designer Babies?

In many ways, Who’s Afraid of Designer Babies? (48 minutes; 24th February 2005; TRILT identifier: 00513446) is a conscious updating of the earlier Horizon episode and manages to bring both the science and the ethics into rather sharper focus.  The programme helpfully disentangles the various technologies that are often lumped together in discussions about designer babies and deals in turn with PGD, gene therapy and cloning.  Depending upon available time, this three-section structure may make the episode particularly useful for teaching; each section might form the basis of three linked lessons.  Both a summary of the programme and a full transcript are available from the BBC website.

 

Who’s Afraid… begins with consideration of PGD.  We are introduced to Philippa Handyside who carries a chromosomal abnormality and turns to PGD following several attempts to establish a pregnancy by natural means.  In this section we are not only presented with a clear explanation of the PGD technique (00:05:00 – 00:08:45) but also a demonstration of the emotional and physical cost of the procedure (00:14:11 – 00:18:36). Philippa describes the fertility treatment needed for PGD as “horrendous…just absolutely horrific” (00:15:27) and the devastation she felt when told the treatment had not resulted in an error-free embryo. After further rounds of fertility drugs she eventually gave birth to a healthy son. 

 

This, of course is controversial enough in its own right, embryos that are not selected do not get implanted and do not get the opportunity to develop into a child.  The programme hints at future controversies in this area. Using a quote from Princeton geneticist Lee Silver (00:12:40) and an old clip from another BBC science series Tomorrow’s World, we are presented with a brief discussion of the potential to move from screening for particular diseases to the potential to select between different embryos on the basis of anticipated intelligence or musical ability.  There are two limitations here.  The first is technological – you can only screen any one cell at any one time for one or two genes, not a whole battery of tests. Secondly, and most importantly, the characteristics can only be chosen from amongst the alleles carried by the parents, if a trait is not represented in their genomes it is not available. As Joyce Harper from University College London puts it “We’re not designing any babies.  We’re not doing any genetic manipulation of the embryo.  We can only select the embryo that the couples produce.  So, if they’re not going to produce an embryo that’s very intelligent, we can’t select for it” (00:22:00).

 

It is at this point (00:22:35) that the episode moves on to think about gene therapy as a means to actually altering an individual’s genetic profile.  The ground here has been covered previously in the Horizon episode Trial and Error (in fact some of the footage is exactly the same).  The focus is on the work of Dr French Anderson, including his 1990 success in using gene therapy to treat Ashanti De Silva who had been suffering with a severe immune system deficiency caused by a genetic mutation. The episode also touches on the devastating blow the field received in 1999 when teenager Jesse Gelsinger died during a gene therapy trial in Pennsylvania.  The section from 00:27:00 to 00:33:48 raises the ethical questions most clearly; in particular, the risks of an introduced gene getting into the germ line cells and being passed on to subsequent generations.
 
In the final section of the programme, the focus shift to cloning technologies.  As with the earlier Life and Death…, both the cloning of Dolly the Sheep (00:34:56 – 00:35:38) and the subsequent production of Polly (00:35:40 – 00:37:30) are discussed.  Polly, you will recall,  is a genuine designer offspring; she has been genetically modified by the insertion of the human gene for blood-clotting protein Factor 9 into her genome.

 

Despite this apparent success of cloning mammals, a number of practical limitations and ethical qualms are identified.  Cloning remains an imprecise science with substantial attempts leading to abnormality and loss of life.  Added to this, even the viable products of some experiments have turned out to be rather different from the expected outcome; the programme illustrates this with reference to a genetically modified ‘supermouse’ with big muscles but an unexpectedly placid personality. 

 

The programme concludes with a visit to the Life Centre in Newcastle, to discuss the relevance of their work on “therapeutic cloning”.  The emphasis, in fact, is that work on manipulating embryonic stem cells, which is the basis of therapeutic cloning, is only looking for ways to treat diseases (though the impression given that no-one here is interested in adapting this work to make designer babies demonstrates a wilful avoidance of the fact that mavericks elsewhere may be very keen to exploit the lessons learnt through their research).  This section certainly contains a nice synopsis of the goals of therapeutic cloning (00:41:35 – 00:45:48). 

 

Overall, the programme gives helpful insights into a range of current developments in biomedicine whilst emphasising that ‘designing’ babies remains some way off.

 

National Geographic: Designer Babies

Designer Babies, from the National Geographic channel (60 minutes, TRILT identifier: 00564089), echoes many of the ethical and practical points raised in the two Horizon documentaries.  However, it has an extended section on PGD and therefore may be the particularly useful if you are looking for a detailed consideration of this topic. 

 

An Australian boy with Hyper IGM syndrome, an X-linked genetic disease, is the focus for much of the episode.  His family seek to use PGD to produce another child selected to be both free of Hyper IGM and also a tissue-match for the older boy so that stem cells harvested from the umbilical cord can be used to treat the older sibling (there are echoes here of UK case involving the Hashmi and the Whitaker families).  The story unfolds to show how the parent overcome the emotional and financial cost to have a new child who will provide the life saving stem cells their first son needs.

 

Unlike the Horizon documentaries, the issue here is one of “saviour siblings”, the production of a “spare parts baby” (00:02:30) and this raises additional ethical questions. For example, the family are concerned about the emotional burden on the new child when it grows up knowing that they were conceived to save their sibling. How would the child feel if, despite all of these efforts, the treatment fails? These are just some of questions raised in the programme.  On the one hand you have parents desperate to do everything they can for their child “Until you’ve got a child, who is in a certain situation, I don’t think you can predict what decision you will make” (Mother; 00:01:31) and on the other you have people worried about the consequences for the new born “We need to do research into how our children are going to be affected by this” (Ethicist Dr Jeffrey Nisker; 00:12:55).

 

The programme also picks up on the use of PGD to select the gender of a child for non-medical reasons, e.g. a mother of four sons desperate to have a girl, and examines some of the ethical issues raised by this application of the technology. (Again, there are echoes here of UK cases, such as the Mastertons and the Chenerys). 

 

In light of these worries, the programme examines the strengths and weaknesses of regulation and ethics committees regarding the uses of PGD. Views expressed range from Nisker, who fears that “in ten years the commercial companies that have been distributing this agenda will have altered us as human beings” (00:25:38) to one mother who states that she “didn’t know why she had to sit in front of an ethics committee to explain why she wanted a child” (00:27:10).  Dr Greg Stock, a bioethicist and prominent commentator in this arena, agrees.  He believes that the best people to make such a decision are the parents and the individual, since they are the ones directly affected. Some children, it is reported, have died while waiting for a decision by the regulatory authorities.

 

This debate moves on to a discussion regarding who has the right to decide who should, and who should not, have children.  Lessons from the Nazi use of eugenics (00:33:49) are used to reinforce the view that central government is not the best place for such decisions to be made. What about parents’ rights to deliberately select a child that is deaf, and thus in the eyes of many people, “disabled”?  The particular focus is on a couple that have both been deaf since birth but naturally conceived a hearing child.  They see deafness, not as a disability, but as a part of their identity (00:36:02).

 

Designer Babies is an excellent resource to raise some of the ethical issues being raised by the more recent advances in PGD. It also features descriptions of what is involved in PGD (00:04:02 – 00:06:02), the history of PGD (00:07:07 – 00:08:40) and the genetic screening that takes place in PGD (00:20:27 and 00:40:00).

 

Which episode is the ‘best’ for teaching? 
All three documentaries contain short sections that would prove very useful for raising discussion on the science and/or ethics involved in ‘designer babies’.  Life and Death in the 21st Century certainly does not cover a number of significant developments which have occurred since it was made.  If you have a copy languishing on the video shelf, it is certainly worth a watch; many of the ethical arguments are still valid.  If, however, you’ve got access to Whose Afraid of Designer Babies? or National Geographic Designer Babies these are probably better.  Either would be highly suitable for showing to a class; the preference may boil down to availability.  At the time of writing (July 2007), the National Geographic programme has not been repeated in the UK since early 2006, whereas Whose Afraid… has been showing regularly on UK Documentary. For this reason, we plan to use the latter as the focus of some additional teaching resources – details to follow.

 

David Willis and Chris Willmott