Genetic testing – Child of our time

January 31, 2008

In 2000, the BBC launched Child of our time, an ambitious experiment to record the lives of twenty-five children over twenty years. The aim was to establish how our genes and the environment combine to make us who we are and shape our personality. Sir Robert Winston (IVF – A child against all odds) the fertility expert and TV personality presents the programmes as they follow a series of newborns from before birth through to adulthood.

BBC Child of our time Homepage

BBC ‘Child of our time’ Homepage  

In this post we focus on two segments for the first series of Child of our time.  These are: Series 1 The journey begins (00:22:00 – 00:28:40) and  Series 1 – Birthdays (00:23:00 – 00:24:26).  Both episodes are available online, see bottom of this post for details about how to access them.

This bioethical discussion, focuses on one set of parents, Neil and Gillian Roberts, who decide to be genetically tested for the Angiotensin I converting enzyme (ACE) gene. It has been suggested that certain variants of this gene help increase stamina and efficient use of oxygen, and thus have been linked to success in sporting activities The father, a keen athlete and sportsman, suggests that both he and the future mother be tested for this variant to establish whether their new born might subsequently have a chance of inheriting it. The result (which appears in the ‘Birthdays’ episode) is negative and neither parent has this particular variant. Read the rest of this entry »

Exploiting Genetic Knowledge – Visions of the Future (2)

January 11, 2008

The Biotech Revolution, the second episode of the BBC4 Visions of the Future series, continues to describe ways in which humanity is making a “historic transition from the age of scientific discovery to the age of scientific mastery”. Presenter Michio Kaku suggests that unlocking the basic code of life will allow us to “predetermine the destiny of life itself” and to manipulate it at the most fundamental level (Start-00:02:00).

The programme begins with Kaku having his “medical future rather than history” diagnosed via a series of genetic tests for complex diseases such as heart disease, diabetes and Alzheimer’s. He describes this as an “owner’s manual” which will enable him to have greater control of his health, and to allow others to perhaps prolong their life by decades (00:02:20-00:06:20 and 00:20:05-00:23: 20). As a scientist, he is eager to discover what secrets his genome may contain however, as a person, he says “wait a minute, this could be a Pandora’s Box… I’m looking at a side of me I have never seen before, a side that has potential medical problems lurking there”.

Some of the issues raised here mirror those found in the ITV1 broadcast The Killer in Me, which illustrated particularly well the anguish associated with having such tests and the way actions could be taken in light of the results. In this programme, in contrast, there is greater emphasis placed on the potential impact on relatives and wider society that may result from taking the tests. “We really want to respect your privacy and the privacy of your relatives” the physician emphasises to Kaku.  Much of the future of this testing, if not the present, relies upon “the last great discovery of the 21st century, the Human Genome Project”.  Kaku believes that this event holds such significance that we will look at the history of medicine in two eras, “before genome and after genome”. “Having unravelled the fundamental code of our biology the stage is set for us to manipulate it” he adds (00:06:25-00:09:20). Read the rest of this entry »

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 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 »

IVF – A Child Against All Odds (6)

January 6, 2007

In the final episode of Robert Winston’s fascinating series on IVF, the focus is on two couples who have spent several years trying for a baby.  Whatever it takes (BBC1, 18th December 2006) follows Dee & Tim, and Yasmina & Aldwyn as they have interventions which, in Winston’s own words, are at the “outer reaches of fertility treatment”. 

Dee and Tim elect to have their embryos tested using Preimplantation Genetic Screening (PGS), a variant of PGD, in which one cell is carefully rolled away from the embryo at the 8-cell stage.  This approach allows doctors to tell whether the embryo has aneuploidy, that is an incorrect number of chromosomes (although technogical constraints mean that only 5 chromosome pairs can be tested at any one time).  It is believed that checking the chromosome number at this stage may reduce the chance of a miscarriage at a later stage, although those involved in fertility treatment are not all convinced of the value of PGS.  Sadly, all of Dee’s embryos have aneuploidy and they elect not to have any transferred to her uterus.

At the start of the episode, Yasmina and Aldwyn are already veterans of seven rounds of IVF.  Desperate for a baby, they move on to the ARGC clinic run by Mohamed Taranissi, a leading UK fertility specialist.  Dr Taranissi has controversial views regarding immune difficulties being a major cause of implantation problems and embryo rejection.  He prescribes a batch of 17 blood tests for Yasmina and then puts her on a number of additional drugs, including steroids, and a transfusion of a human blood protein.  Despite these extra treatments, this eighth round of IVF also fails.  However, the news is not all bad; as the programme finishes Yasmina is expecting twins after further therapy.

Robert Winston also goes to visit a couple who tried unsuccessfully to have a baby using IVF (44:30-47:00).  Before doing so, he poses the question “how many IVF failures do you allow a couple to go through before you advise them to stop?” (40:19-40:50).  In this case, his ex-patients have reached fulfilment by adopting two boys. “For some couples, infertility can be a beginning, it doesn’t have to be an end” comments Winston. 

There are a number of potentially useful clips within this episode.  In terms of the technology (and the personal tragedy of failure), there is a very useful section from 31:55-39:55 where Dee’s embryos are screened by PGS.  The wrong number of chromosomes is very clear to see; the fluorescent dots representing different chromosomes are not in regular pairs.  The effects, and side-effects, of hormone treatment are vividly described from 11:00 to 15:10.

Follow this link to the BBC website for this episode. Members can purchase copies from the Britsh Universities Film and Video Council (TRILT code 005E1B49).

IVF – A Child Against All Odds (5)

January 5, 2007

In Gift of life (BBC1, 13th December 2006, TRILT code 005DEE22), attention returns to the issue of egg donation.  Like Karen and Alex in the previous programme Cheating time, Susanna and John travel overseas to buy eggs, on this occasion to Spain.  Susanna has to take a course of hormones to prepare her uterus to receive any embryos.  They discuss the potential emotional difficulties of raising a child that is only genetically related to John (14:30 into episode, and revisited at 27:30).  As it turns out, the issue remains theoretical this time as the pregnancy is not sustained.

Nicola and Stephen need IVF but cannot afford the £3000 fee.  They enter into an agreement to get their treatment free in return for donating half of Nicola’s eggs to another couple, who pay for both procedures.  Nicola enters into the arrangement knowing that it is possible that the she will not get pregnant but that the recipient of her donated eggs may do so (discussed in commentary 13 minutes into programme).  As it is, Nicola successfully conceives and gives birth to a daughter.

Finally, the episode tells the remarkable story of Bonny. Childless after going through a premature menopause, Bonny takes part in a pioneering operation in which she receives an ovary from her fertile twin sister Crystal (tissue from any other woman would be rejected, so this is not a route open to most people).  The procedure is a wonderful success and Bonny subsequently conceives naturally with her husband and also gives birth to a daughter.

There are not many excepts from this episode that would be suitable for teaching in isolation from the whole programme.  however, there is an interesting section from 45:00 to 48:47 in which Robert Winston talks to artist Stuart about the psychological difficulties of being fathered by an unknown sperm donor.  A change in the law means that children born as a result of donated sperm or eggs will have the right to know the identity of the donor when they turn 18.

The BBC website for this episode can be reached from this link.  BioethicsBytes notes on the final episode in the series, Whatever it take, can be found here.

IVF – A Child Against All Odds (4)

January 4, 2007

In Cheating time, the fourth episode in the A child against all odds series, Robert Winston turns his attention to older women seeking to become pregnant by IVF.  The focus is on two couples from the UK, plus an interview with Adriana Iliescu who aged 66 was, at that time, the oldest mother in the world (A 67 year old Spanish woman gave birth to twins in December 2006).

Karen and her husband Alex already have one daughter as a result of regular IVF.  Despite Karen being only 35, a dramatic decline in her fertility has left them seeking an embryo donated by a younger woman in order to increase their family.  Their search takes them to Russia.  A donor, paid the equivalent of a month’s wages for her services, provides a remarkable 21 eggs which are fertilised using Alex’s sperm.  There are concerns because the lining of Karen’s uterus is not as thick and ready to receive an embryo as they had hoped.  Despite this, the doctor’s transfer two embryos and Karen achieves a pregnancy. She later discusses on camera her struggle as she comes to terms with the fact that her unborn baby is not genetically hers (c. 51 mins), although the 12 week scan helps her in the bonding process.  The episode finishes with her giving birth to a son.

Suzanne is a businesswoman in her early 40s.  She has only married Alan relatively recently and they find themselves wanting to start a family.  Unfortunately, as the commentary puts it, “Suzanne is ready to have children at exactly the age when the quantity and quality of her eggs is falling” (5:50 into episode).  Initially they try an experimental new procedure called “assisted hatching”.  Working on the premise that older women may have difficulty conceiving because the outer layer of their eggs has become tougher with time and hence less likely to implant when put back into the uterus, doctors soften the eggs by careful treatment with a laser.  Sadly on neither this occasion, nor a later round of IVF, are they able to achieve a pregnancy.

In terms of teaching about the science and bioethics of fertility treatment, there are fewer stand-out clips in this episode than some of the other programmes in the series.  The section starting about 5 minutes in where we are first introduced to Suzanne and Alan is perhaps the most self-contained section illustrating the sort of situations that lead women to be seeking IVF.  Robert Winston’s reflections on the upper age limit for fertility treatment following his conversation with Adriana Iliescu are also interesting (43 mins in). 

This programme was initially transmitted on BBC1 on December 5th 2006 (TRILT identifier = 005DCCC6). Clicking on this link will take you to the BBC website for this episode, which also includes a short video clip where Robert Winston discusses Adriana’s case with her fertility doctor.  This is perhaps more illuminating concerning the key ethical issues than the programme itself.  BioethicsBytes notes on the next episode in the series, Gift of life, can also be found via this link.