Rebecca Bird reports on the emerging role of whole genome sequencing in young onset Parkinson’s disease management.
Whole genome sequencing is a method used to read and interpret the complete DNA sequence of a person’s genetic material, known as their genome.
To sequence a genome, scientists obtain a sample of DNA, typically from blood, saliva or tissue samples.
They then use special equipment and chemical processes to read the DNA sequence, which is essentially the order of the building blocks that make up the DNA molecule.
The sequence data is then assembled using powerful computer algorithms to generate a complete genome sequence.
The results can provide insights into a person’s physical characteristics, behaviour, drug response and susceptibility to disease.
Gaynor Edwards, founder of Spotlight YOPD, believes that whole genome sequencing may play a significant role in predicting and diagnosing young onset Parkinson’s disease.
“You’re not going to find a cure unless you’ve got the cause, and you’re not going to find the cause unless you’ve got the research,” she told Neuro Rehab Times.
Umbrella term
Parkinson’s is not just one disease and it is not a disease exclusive to the elderly, it can happen to people of any age, the Spotlight YOPD website reads.
Young onset Parkinson’s disease (YOPD) is an umbrella term that refers to those under 50 diagnosed with Parkinson’s. It is thought to account for about 10 percent of all cases.
If that figure is correct, it would suggest that 14,500 people in the United Kingdom are currently living with the disease.
Gaynor, the owner of a PR and marketing firm in Tunbridge Wells, was 42 when, after a series of misdiagnoses, doctors finally confirmed she had Parkinson’s disease.
She was shocked by the lack of specific support given to young people with Parkinson’s and as a result created Spotlight YOPD, a UK-based charity that offers support and information.
Since its launch in 2016, the charity has gone from strength to strength – it has more than 1,500 followers on social media and a website with a large international readership.
Whole genome sequencing
With her team at Spotlight YOPD, Gaynor has consistently campaigned and lobbied for more support for people diagnosed with young onset Parkinson’s disease.
One of her major focuses has been on the potential benefits of whole genome sequencing in not only diagnosing the disease but also predicting its onset from an early age.
She said that if a person is given some warning of their future diagnosis they may be able to prepare better and even take steps to lessen its impact.
“Had I known when I was 10 or 20 that I was a candidate for Parkinson’s, I would have drunk an awful lot more green tea, I’ll tell you that,” she joked.
“I certainly would have looked after my stress level a little bit more,” she said. “Maybe there are things that you can do to help yourself – it’s all kind of a new science.”
In 2012 the UK government set up Genomics England to run its 100,000 Genomes Project over the next six years, with research and analysis continuing beyond.
Scientists sequenced 100,000 whole genomes from NHS patients and their families with common cancers and rare diseases – including those with young onset Parkinson’s.
“It was deemed a success, specifically for the young onset group that had been referred to it by their neurologist,” Gaynor said.
The next step
The research project provided the foundation for NHS genomic medicine centres to be set up across England, and from May 2020 whole genome testing was available to the public.
“Anyone diagnosed with Parkinson’s under the age of 50 can request a whole genome sequence,” Gaynor told Neuro Rehab Times, “and have that put on a database.”
As part of its long-term plan, the NHS aims to be the first national health care system to offer whole genome sequencing as part of routine care.
And part of that involves the sequencing of 500,000 whole genomes by 2023-2024.
Gaynor is a supporter of whole genome testing at a young age, not just for those with cancer or other diseases, and would like to see it being offered to parents of all children.
“Given the state of the NHS at the moment – we need to go with a different kind of approach and prevention is always better than cure,” she said.
However, she predicts that uptake will be low because some people will be scared to get the results.
“They see genetics as the crystal ball of doom, telling you that you’ve got this horrible thing that’s in your DNA code and to be afraid.”
But she stressed that as well as benefiting the individual and allowing them foresight, scientists need a database of information to make progress in finding treatments or a cure.
For more information on Spotlight YOPD visit www.spotlightyopd.org
VIDEO: Below see Gaynor being interviewed by the YOPD Council
