Whole genome sequencing has come a long way since the first human genome was sequenced in 2003. Now, the UK is a world leader in the field of genomic medicine.
The UK has become the first nation to successfully sequence 100,000 entire genomes. Genomics England was formed by the government to deliver the project which was launched by then Prime Minister, David Cameron, in 2012.
This project is expanding, with an ambition to sequence 5 million genomes over the next five years. So, what issues still need to be addressed in order for this pioneering programme to to be effectively rolled out? City News investigates.
What is Whole Genome Sequencing?
Whole Genome Sequencing allows scientists to read an individual’s DNA in its entirety. Over 99% of the human genome remains the same in each individual, but there are still millions of variants which make each person unique.
By analysing these differences, doctors can identify defects which may cause genetic disease or cancers.
Professor Mark Caulfield, Interim Chief Executive of Genomics England, told City News about the difficulty of not having a diagnosis:
“People with rare disease often go through life without a genomic diagnosis. They might get the name of a syndrome, but that doesn’t tell their mum and dad, or them, exactly what’s wrong.”
Genomics England Logo. Credit: Creative Commons
Professor Caulfield adds, “In cancer, we can choose from looking at the genome, in about half the people, a potential therapy, either in a trial or a therapy that might be available on the national health service.”
“If I could choose a therapy targeted to a person’s cancer, that may give them a better chance of cure. It may give them a better chance of a longer life. I’m not choosing it because they’ve got a specific tumour, I’m choosing it based on the individual genetic makeup of that tumour.”
Getting a Diagnosis – Sarah’s Story
Not having a diagnosis can be incredibly difficult. This is something which Mum Sarah knows all about.
At the age of 1, her son Joel was referred to a paediatrician after showing signs of slow development and visited a variety of specialists over the following years.
Sarah says, “it feels like you’re living in limbo the whole time, because when you’re dealing with health services and education services, the first question they always ask is ‘what’s his diagnosis?’ When you can’t tell them, that’s quite difficult.”
Joel
Sarah eventually submitted Joel’s DNA into the 100,000 Genomes Project alongside another study, called the DDD. It was through this, that they eventually got a diagnosis for Joel at the age of seven.
He has a mutation on the TLK2 gene, an incredibly rare condition which affects cell replication and causes developmental delay.
Sarah believes there are benefits of finally getting a diagnosis: “I have to say it has been positive…I can now tell people. The downside is, because it’s so rare, nobody has heard of it, the doctors haven’t heard of it. I end telling them about it.”
Whole Genome Sequencing could ultimately help families, like Sarah and Joel, to get a diagnosis, and ensure treatment is personalised.
Pressure on the NHS
As with any major health initiative, there are various challenges which must be addressed in this project.
Emeritus Professor Morton Warner, founded the Genomics Policy Unit (GPU) at the University of South Wales. He is apprehensive about the potential consequences of using genome sequencing to pre-empt disease.
He is concerned that it could create more pressure on the NHS:
“If you start looking for things, as you might well do with genomic screening on a mass scale, the chances are that you are going to find something. The issue is, that creates uncertainty for individuals, it creates worry.”
He adds, “general practitioners and nurses who work in general practice are going to be asked a whole series of questions about what something means, because people will just be worried.”
Dr Emma Tonkin, who has taken over at the GPU and found the Global Genomics Nursing Alliance (G2NA), shares these concerns. She is aware that Whole Genome Sequencing as part of the health service may add pressure on nurses.
“I think from the perspective of both the GPU and the G2NA we feel it’s really important that nurses have sufficient education as part of their training to really understand how genetics and genomics is going to impact their role in the future.”
The Issue of Consent
Dr Anneke Lucassen, the chairwoman of the British Society for Genetic Medicine, praised the way ethics has been at the forefront of the project. But she also warned that transparency for those involved must remain a priority.
She says, “We asked people what they had signed up for when they consented to the project. Nearly everyone was really happy with the consent process, but couldn’t remember what they signed up for.”
She says that with genomics, providing “fully informed consent”, where you have all the information to hand, is “much harder to provide”.
The Search Continues – Stephanie’s Story
Like Sarah and Joel, Mum Stephanie has been searching for a diagnosis for her 7 year old daughter Olivia.
She has a unique form of dwarfism, a mutation of a condition called Goldblatt Syndrome. It causes symptoms including joint laxity, muscle weakness and a curved spine.
But her condition has not yet been properly diagnosed through her DNA.
Olivia
Stephanie was originally hopeful that the 100,000 Genomes Project might be able to help.
She says, “Unfortunately, we’ve come to an end point, they have come back to say there is no result they can offer. But they’re going to continue to try and test her DNA.”
After submitting Olivia’s DNA in December of 2016, they are still waiting.
“I’m not very hopeful they will find anything because it is the search for a needle in a haystack. As a family, we’re living with the fact that we know she has a very rare skeletal dysplasia and if we can find a diagnosis, it’s just going to be a name.”
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HeadlineCity Investigates: The Future of Whole Genome Sequencing
Short HeadlineInvestigating Whole Genome Sequencing
StandfirstAs the 100,000 Genomes Project expands, certain areas must be addressed in order for the programme to be fully effective.
Whole genome sequencing has come a long way since the first human genome was sequenced in 2003. Now, the UK is a world leader in the field of genomic medicine.
The UK has become the first nation to successfully sequence 100,000 entire genomes. Genomics England was formed by the government to deliver the project which was launched by then Prime Minister, David Cameron, in 2012.
This project is expanding, with an ambition to sequence 5 million genomes over the next five years. So, what issues still need to be addressed in order for this pioneering programme to to be effectively rolled out? City News investigates.
What is Whole Genome Sequencing?
Whole Genome Sequencing allows scientists to read an individual’s DNA in its entirety. Over 99% of the human genome remains the same in each individual, but there are still millions of variants which make each person unique.
By analysing these differences, doctors can identify defects which may cause genetic disease or cancers.
Professor Mark Caulfield, Interim Chief Executive of Genomics England, told City News about the difficulty of not having a diagnosis:
“People with rare disease often go through life without a genomic diagnosis. They might get the name of a syndrome, but that doesn’t tell their mum and dad, or them, exactly what’s wrong.”
Genomics England Logo. Credit: Creative Commons
Professor Caulfield adds, “In cancer, we can choose from looking at the genome, in about half the people, a potential therapy, either in a trial or a therapy that might be available on the national health service.”
“If I could choose a therapy targeted to a person’s cancer, that may give them a better chance of cure. It may give them a better chance of a longer life. I’m not choosing it because they’ve got a specific tumour, I’m choosing it based on the individual genetic makeup of that tumour.”
Getting a Diagnosis – Sarah’s Story
Not having a diagnosis can be incredibly difficult. This is something which Mum Sarah knows all about.
At the age of 1, her son Joel was referred to a paediatrician after showing signs of slow development and visited a variety of specialists over the following years.
Sarah says, “it feels like you’re living in limbo the whole time, because when you’re dealing with health services and education services, the first question they always ask is ‘what’s his diagnosis?’ When you can’t tell them, that’s quite difficult.”
Joel
Sarah eventually submitted Joel’s DNA into the 100,000 Genomes Project alongside another study, called the DDD. It was through this, that they eventually got a diagnosis for Joel at the age of seven.
He has a mutation on the TLK2 gene, an incredibly rare condition which affects cell replication and causes developmental delay.
Sarah believes there are benefits of finally getting a diagnosis: “I have to say it has been positive…I can now tell people. The downside is, because it’s so rare, nobody has heard of it, the doctors haven’t heard of it. I end telling them about it.”
Whole Genome Sequencing could ultimately help families, like Sarah and Joel, to get a diagnosis, and ensure treatment is personalised.
Pressure on the NHS
As with any major health initiative, there are various challenges which must be addressed in this project.
Emeritus Professor Morton Warner, founded the Genomics Policy Unit (GPU) at the University of South Wales. He is apprehensive about the potential consequences of using genome sequencing to pre-empt disease.
He is concerned that it could create more pressure on the NHS:
“If you start looking for things, as you might well do with genomic screening on a mass scale, the chances are that you are going to find something. The issue is, that creates uncertainty for individuals, it creates worry.”
He adds, “general practitioners and nurses who work in general practice are going to be asked a whole series of questions about what something means, because people will just be worried.”
Dr Emma Tonkin, who has taken over at the GPU and found the Global Genomics Nursing Alliance (G2NA), shares these concerns. She is aware that Whole Genome Sequencing as part of the health service may add pressure on nurses.
“I think from the perspective of both the GPU and the G2NA we feel it’s really important that nurses have sufficient education as part of their training to really understand how genetics and genomics is going to impact their role in the future.”
The Issue of Consent
Dr Anneke Lucassen, the chairwoman of the British Society for Genetic Medicine, praised the way ethics has been at the forefront of the project. But she also warned that transparency for those involved must remain a priority.
She says, “We asked people what they had signed up for when they consented to the project. Nearly everyone was really happy with the consent process, but couldn’t remember what they signed up for.”
She says that with genomics, providing “fully informed consent”, where you have all the information to hand, is “much harder to provide”.
The Search Continues – Stephanie’s Story
Like Sarah and Joel, Mum Stephanie has been searching for a diagnosis for her 7 year old daughter Olivia.
She has a unique form of dwarfism, a mutation of a condition called Goldblatt Syndrome. It causes symptoms including joint laxity, muscle weakness and a curved spine.
But her condition has not yet been properly diagnosed through her DNA.
Olivia
Stephanie was originally hopeful that the 100,000 Genomes Project might be able to help.
She says, “Unfortunately, we’ve come to an end point, they have come back to say there is no result they can offer. But they’re going to continue to try and test her DNA.”
After submitting Olivia’s DNA in December of 2016, they are still waiting.
“I’m not very hopeful they will find anything because it is the search for a needle in a haystack. As a family, we’re living with the fact that we know she has a very rare skeletal dysplasia and if we can find a diagnosis, it’s just going to be a name.”
Internationally renowned for transforming her life into confessional art, the exhibition offers an intimate and unapologetic glimpse into one of Britain’s most influential contemporary artists.
