Have you heard the latest news? A new method for screening for Down’s syndrome, Reflex DNA Screening, was announced to the press last week by Queen Mary University of London (QMUL), with not merely the ‘potential to transform’ antenatal screening, an attribute that Non-Invasive Prenatal testing (NIPT) was considered to have … but it will be ‘transformational’. Have we really run out of unique superlatives to describes these much-lauded discoveries, designed with the intention to seek out the tiny minority of babies carrying that extra chromosome?
Going by the efforts of the scientific community, it’s as if there were some sort of race or goal set in medical schools and Universities to find the Holy Grail of antenatal screening. Oh! Hold on. According to Icelandic geneticist Dr Kari Stefansson that’s exactly what did happen ’40 some years ago, it was considered one of the goals of Obstetrics and Gynaecology to figure out how to screen for Down syndrome in such a way that Down syndrome could be eradicated’. In the same interview with the BBC, Dr Stefansson also stated, ‘and now we are sitting here in Iceland in 2017 and no there are no babies being born with Down syndrome’. I ponder this ‘achievement’, has it led to everyone in Iceland being richer or happier? Well, perhaps not, because, according to recent research, people with Down’s syndrome and their families, are happier than everyone else!! Perhaps this targeted use of screening technology is not a glorious win, but an own goal?
Geneticists have set themselves a very achievable target. Down’s syndrome is one of the most common forms of chromosomal mutations known to man and is fairly easily detected. When a sample of fetal blood is obtained, technicians can simply sort and count the chromosomes in the sample and, bingo! Yet, as each geneticist announces the latest test for Down’s syndrome, they can take a bow, go to the top of the class – the media lap it up. Perhaps this explains the overuse of sensational superlatives, geneticists are playing to a receptive, perhaps even naive, audience. After all, the process of antenatal screening isn’t easy to explain to a time-starved journalist.
Incidentally, Reflex DNA, is not a new screening test for Down’s syndrome, although, in the wake of its upbeat press release, many people considered that to be the case. ‘I’m sure they said it was?’ I hear many of you say. …
Source:: The Huffington Post – UK Lifestyle