Is it right to screen embryos for disabilities

Medical technology now allows for the screening of embryos for disabilities, giving parents the option of termination at a very early stage. Is this desirable? Anabel Unity Sale reports

Simon Minty leads a fulfilling life. He has a day job he loves, a wicked sense of humour and does stand-up comedy in his spare time. But he may never have been born if a newly devised test had been around when his mother was pregnant with him 38 years ago. Simon has the genetic condition spondylo-epiphyseal dysplasia (SED), a form of restricted growth which meant he stopped growing at 3ft 11 inches.

Thanks to advances in medical science, pregnant women are routinely tested to identify a number of conditions and embryos used in in-vitro fertilisation (IVF) can be screened for certain genetic diseases before being implanted. This complicated method of pre-implantation genetic diagnosis (PGD) has limitations and earlier this month scientists announced a new test that may revolutionise how embryos are tested.

A team from the genetics unit at London’s Guy’s hospital have developed a radical procedure that makes PGD more accurate and powerful. Pre-implantation genetic haplotyping (PGH) can look at the whole DNA of a cell rather than solely focus on a specific mutation in one gene, making the identification of genetic conditions faster. One such condition is SED.

News of the breakthrough has been greeted with a mixed reaction. Debate has long raged over the ethics of embryology and last autumn the government conducted a consultation on its review of the Human Fertilisation and Embryology Act. It received over 530 responses and the Department of Health says ministers are still considering the issue before making an official announcement, which is expected sometime in the summer.

The major concern about screening embryos for genetic conditions centres on discarding unwanted embryos. Andrew Holman, director of learning difficulty advocacy organisation Inspired Services, suggests wanting to “screen out” disabilities could prove the thin edge of the wedge. “With the advances in genetic testing we are getting closer to being able to have the technology to create designer babies and screen for a huge range of disabilities.”

He argues the whole concept of designer babies involves eliminating particular attributes that are deemed undesirable while retaining those that are supposedly desirable. The overall impact on society, he adds, won’t be known for some time but “a society without disabled people may be less compassionate”, he argues.

If more and more embryos are screened for any faults then it could change how society views people currently living with disabilities. Holman says it may strengthen the feeling that “having a disability is wrong” and lead to further ostracism of some disabled people. “If disabled people are treated differently then it’s going to be an uphill struggle to support their equality and independence.”

Learning difficulties charity Mencap’s head of campaigns David Congdon is equally concerned. He says although screening for conditions such as Down’s syndrome during pregnancy is not going to end – and nor does he argue it should – he is concerned about what happens when parents receive positive test results. The assumption by some medical staff is that the pregnancy should be terminated and they do not provide impartial advice to mothers in such situations.

“We have come across cases where the mother has gone ahead with the pregnancy and has been told ‘didn’t you know?’ when she gives birth to a disabled baby, as if she should not have continued with the pregnancy knowing the child was disabled.”

Congdon believes that providing parents with support, such as connecting them to charities and user groups involved in the particular condition, before the birth can help boost their confidence about their ability to cope. “If parents knew the support was there from pregnancy then it would make it much easier for them.”

Embryos are screened for a variety of genetic disorders with a view to ensuring the embryos chosen for implantation contains the genes the parents want, and more often than not are healthy genes. However, not all parents seek to have a “perfect” baby. Some people who are deaf or who have serious hearing loss feel comfortable with raising a child who shares their condition because they identify themselves as having a distinct culture.

Royal National Institute for Deaf People (RNID) director of communications Brian Lamb says this means deaf parents can raise a child they can relate to, use British Sign Language with and both can have a similar life experience.

He adds: “Some deaf people argue that culturally and linguistically they use a different language and they do not have a disability, therefore they are part of a cultural minority and not a disabled group.”

It is understandable, he says, for parents to want to screen their embryo to see if it has the deaf gene and he believes it should be a personal decision. Lamb emphasises that not all parents test or screen with a view to having an abortion, but as a way of preparing themselves for what may lie ahead.

Some argue that we are on the slippery slope towards eugenics. While we can all understand wanting to be able to identify and eradicate the gene for cancer, what happens when that six-letter word is replaced by spina bifida or even cleft palate?

For Simon Minty this scenario is extremely problematic. As director of disability and diversity trainer and consultant Churchill, Minty & Friend he is used to helping others realise the fulfilling and rewarding lives disabled people have, something he thinks genetics scientists do not always acknowledge. “Genetic scientists say they are only doing this for research and they have no value judgement but that’s a cop out. They are taking no responsibility for what the consequences are of having this screening information.” He adds that his biggest problem is not being small but how other people treat him. “It’s about how you educate people, not how to eradicate disabled people.”

Consultant gynaecologist Stuart Lavery believes screening for disabilities is a necessity and not to be feared. A specialist in PGD at Hammersmith Hospital, most patients he sees have experienced serious health problems and that is why they choose to screen their embryos.

He says: “The fact is that thousands of abortions are performed on perfectly normal foetuses per year and people are getting all excited about disabled embryos being aborted. I am not excited about it; I practise PGD to try to prevent women from having terminations.”

Minty agrees parents need support to make informed choices about whether to go ahead with screening for disabilities: “They need to be given all the information, not just the bleak medical view.” He advocates connecting the parents to the appropriate association, such as the Restricted Growth Association, so they can meet other families in similar circumstances and get mutual support.

While screening for abnormalities may, at first glance, appear a reasonable and responsible thing to do we have to be prepared for what the final impact may be for society. The government has a target of achieving “substantive equality for disabled people” by 2025.(1) But if disabled people are to be fully included in society then it has to be done from birth. And in some cases from the point of conception. CC

(1) The Prime Minister’s Strategy Unit, Improving Life Chances of Disabled People, 2005