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Philippa Taylor

New genetic tests and difficult questions facing expectant parents

Philippa Taylor was Head of Public Policy at CMF until September 2019 and now works with CARE. She has an MA in Bioethics from St Mary’s University College and a background in policy work on bioethics and family issues.
The views expressed do not necessarily reflect those of CMF.

A front page article in the Daily Telegraph today describes how researchers have been able to map in great detail the genetic code of an unborn baby at 18 weeks gestation.  Taking a blood sample from the mother and a swab of saliva from the father the researchers were able to scan the fetus’ genome and determine whether it contained any changes in the DNA code that can cause genetic disorders:

‘Here, we combine genome sequencing of two parents, genome-wide maternal haplotyping, and deep sequencing of maternal plasma DNA to noninvasively determine the genome sequence of a human fetus at 18.5 weeks of gestation.’

This work opens up the possibility that we will be able to scan the whole genome of the fetus for more than 3,000 single-gene disorders through a single, non-invasive test’ the lead scientist is quoted as saying. The researchers were able to identify new mutations in fetuses not shared with either parent.

The research is in part based on the fact that small fragments of fetal DNA circulate in the blood of pregnant women.

Cell-free fetal DNA is DNA from the baby that has crossed the placenta into the mother’s blood. It makes up about 10% of all free DNA in the maternal blood and can now be examined to determine the baby’s sex and what genetic disorders it carries. This kind of testing is extremely accurate but currently expensive. However the cost is expected to come down very rapidly in the near future.

This latest research report follows a steady stream of research dedicated to testing the unborn child for gender and disabilities in ever greater detail, in ever simpler and, eventually, in cheaper ways.

At the moment the only genetic disorder routinely tested for on the NHS is Down’s syndrome. Other faults are sometimes tested for, but usually only when there is a risk of inheriting them from a parent. By contrast this new test would identify far more conditions caused by genetic errors.

Josephine Quintavalle of the Pro-Life Alliance warns: ‘One always hopes, vainly, that in utero testing will be for the benefit of the unborn child. But, whilst this new test may not itself be invasive, given our past track record, it is difficult to imagine that this new test will not lead to more abortions.’

While we would almost certainly want to eliminate debilitating genetic disorders, that is very different to eliminating a child with the disorder.

Here are just some (usually unspoken) questions we are now faced with:

  • What should we screen for?
  • What about diseases that don’t severely limit lifespan and aren’t that disabling?
  • What is the purpose of the screening test?
  • What about disorders that only have a risk of developing, at some point? (a 90% risk? a 50% risk? a 40% risk? Or a 10% risk?)
  • Where do we draw the line?
  • Will parents feel pressured to have these tests?
  • How will parents decide whether a child’s life is worth living?
  • How do we measure ‘worth’?
  • Will babies with disorders such as Down’s syndrome slowly disappear? (Actually, they already are disappearing with around 95% of all babies found to have Down’s syndrome being aborted each year)
  • Are we headed for a society where all children aren’t just above average, but genetically ideal?
  • Will society deal kindly with children born with genetic conditions, even mild ones?
  • Will researchers keep trying to improve treatment options, and will anyone fund their work?
  • Is this effectively discrimination against the disabled?

Sometime soon, almost every expectant family will be forced to face up to and answer all these questions for themselves.

Posted by Philippa Taylor
CMF Head of Public Policy

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