Alex Szostak may clock into an ordinary-looking office every day, but his job involves the extraordinary science of genetic screening, Rachael Clegg finds out what it’s all about.
IN FRONT of Alex Szostak is a computer screen displaying dozens of squiggles.
They look like nothing more than misshapen patterns, but to Alex, these black and white markings make perfect sense.
In fact, these strange forms make up a person.
They are the 46 chromosomes that carry all the necessary information to create a human being. Each chromosome contains hundreds or even thousands of genes, encrypted with vital data that makes us who we are.
Eye colour, hair colour, height, build, mental agility, metabolism, talent, you name it - all this information, and more, is on this screen in a non-descript office off Glossop Road.
And it’s Alex’s job as a genetic technologist to screen these chromosomes for abnormalities that may later manifest themselves as any of a number of genetic disorders.
Alex, aged 26, from Hillsborough, works for the Sheffield Diagnostic Genetic Service, based at the Royal Hallamshire Hospital.
“It is a fascinating job - it’s like a puzzle to me, a very interesting puzzle.”
Alex’s observations provides information that helps parents make important decisions about their pregnancy, as the abnormalities he spots today could - if left undetected - lead to certain conditions in the future.
Among these conditions are Down’s syndrome and Patau syndrome – a rare condition where babies fail to survive for more than a few days. Patau’s syndrome the result of an extra chromosome, which is what Alex is able to see on his screen.
“The pairs of chromosomes I can see on the screen are known as karyotype. I can see deletions of complete chromosomes or deletions of chromosomes. I suppose it’s ‘macro genetics.’”
It’s this - looking at pairs of chromosomes on screen and down microsscopes - that occupies Alex’s morning.
“Then in the afternoon I work on the molecular stuff,” he says.
“For this I use a specific computer programme as I’m identifying molecules on a specific gene - it’s a more in depth look at the make-up of the chromosomes.”
This process helps Alex identify conditions such as Fragile X syndrome - the common gene cause of autism.
Fragile X syndrome results in intellectual disability and its physical characteristics include an elongated face, low muscle tone and large ears.
But in order to do any of this analysis, the department needs samples. And fortunately, they have an abundance of them, from parents across the region.
Samples of a parents’ blood or a mother’s amniotic fluid - which surrounds the foetus in the womb - is taken for analysis and from this blood or fluid Alex can identify cells containing the chromosomes that determine the precise make-up of an unborn child.
But in order to be able to study the sample cells, the cells have to be at a certain ‘stage’ in their life span, and this ‘stage’ is called mitosis, when the cell separates its chromosomes into two identical sets.
The cells are put on to slides, which are then fed into a machine which in turn selects the good cells for the scientists to study - cells that aren’t broken and are easy to read. The ‘good cells’ are then put onto a hard drive, which Alex and his colleagues can access on the computer.
“I then have to match them up on screen in order to see if there are any abnormal variations. The chromosomes should match in length and marks.”
He identifies an oddity on screen. “You see that dark patch there? That will need to be examined further. It is quite a responsible job really as it has to be right. Sending out the wrong information could have lifelong consequences.”
Alex examines around 2,000 blood and amniotic fluid samples a year. “It’s purely a diagnostic service,” he says.
Sheffield is one of 32 centres in the UK that has the facilities to screen for genetic disorders. “We get samples from all over the country,” says Alex.
And if his job wasn’t unusual enough, Alex is also a semi-professional rugby player for the Sheffield Eagles.
“It’s great doing a job like this - which is quite cerebral - and having the rugby as well. It’s a nice balance of mental and physical work.”
Alex studied bio medical science at the University of Leeds and has been playing rugby since he was eight years old.
He shares a house with fellow Eagles players Tim Bergin and Missy Taulapapa.
“It’s a good house to live in,” he laughs.
Before working as a genetic technologist, he briefly played in France as a professional rugby player but came to Sheffield to work at the hospital and to join the Eagles.
“I lived at my parents’ home near Skipton while I was studying and played rugby in Bradford so I was always travelling from one place to another but with this move I decided that I was going to live, work and play in the same place. I do and I love it.”
The science of genetics
Genetic screening is a sophisticated means of testing for genetic disorders such as Downs Syndrome.
New technology, such as specialist computer programmes and cell-reading machines, means the job of screening genes is a lot less laborious than it used to be.
Alex looks for abnormalities on the chromosome. These abnormalities can lead to conditions such as
Each cell in the body contains 23 pairs of chromosomes. These carry the genes you inherit from your parents.
There are about 21,000 genes in total, all encoded in the DNA contained in the 46 chromosomes.