‘Our son didn't have the energy to walk or talk, but now I can't keep up with him’
Soon after Owen had his first birthday, his parents, Sarah and Rob Everitt, began to worry that there might be a problem.
“He hadn’t started to crawl or talk, or even to babble as many babies normally do between 9-12 months, and he wasn’t sitting up, so that’s when I began to have concerns,” says Sarah.
Although they saw several paediatricians, none were able to diagnose any specific condition, and they began to feel that their worries were being dismissed.
“We spent many hours in hospital waiting rooms, being referred from one department to another, but all the tests, some of which were quite invasive, came back negative every time,” says Sarah.
Years later, the family, who live in Ackworth, West Yorkshire, took part in the 100,000 Genomes Project, by Genomic England, a national initiative to sequence and study the role our genes play in health and disease. And it was only then that they got answers. Owen, now nine years old, was diagnosed with a rare genetic condition which affects his growth and development, called THRA-related congenital hypothyroidism, which occurs when the thyroid gland fails to work properly.
Owen was only the sixth person in the UK, and the 30th in the world, to be diagnosed with the gene disorder. It is not inherited, but due to a spontaneous mutation in a person's DNA. Congenital hypothyroidism is usually treated by replacing the thyroxine - a hormone that the body cannot produce - in pill form, called levothyroxine. Many children can require treatment for life.
As a result, he now takes daily medication, “In his early years, he didn’t have any energy to walk or talk and would just fall asleep during the middle of day, but now he's full of energy and I can't keep up with him,” says Sarah.
Now a new research study Newborns Genome Programme, starting later this year, will sequence the genomes of 100,000 babies over two years and will gather evidence to assess whether it could be rolled out across the country. Doctors say that if these diseases are picked up earlier, children can be offered existing treatments much sooner, improving their long-term health prospects.
The project, funded with ₤105m from the Department of Health and Social Care, will be the first time that genome sequencing has been offered to parents with healthy babies in the NHS, initially in 25 NHS hospitals.
Genomics England, a company set up by the Department of Health and Social Care, believes it to be the largest study of its kind in the world, and, if successful, could lead to wider genetic testing being offered routinely in future. Studies show there are at least 7,000 single gene disorders, most of which develop during early childhood.
Several thousand children born in the UK every year are affected by rare genetic diseases, but many families can face years of tests and uncertainty before receiving a diagnosis, as symptoms often develop slowly, and by the time a diagnosis is confirmed the condition may have progressed considerably.
Dr Richard Scott, chief medical officer at Genomics England and a consultant in clinical genetics at Great Ormond Street Hospital for Children, says there are around 3,000 children with genetic disorders born every year in the UK who could benefit from the study.“We want to look for conditions that are ‘actionable’, that is, [in children] that can be given existing treatments, so it’s like shining a spotlight on a certain range of conditions where we can make an intervention now,” says Dr Scott.
“Currently, the heel prick test [given to all newborns] only tests for nine rare conditions, so this will hugely expand the range of conditions for which we can screen. We’re having a continuing dialogue with the public about which diseases we should include in screening and there is still a complex set of questions which need to be addressed. Although our public consultation shows great support for the use of screening in newborns, the technology is moving forwards very quickly, and we need to ensure that parents who will take part in the project are fully aware of all the implications.
“We also need to look at the workforce requirements of offering this service to parents of newborns, in terms of providing expertise and support by the NHS.”
But some genetic specialists take a more cautious view of the ethical decisions which parents will have to consider. Frances Flinter, emeritus professor of clinical genetics at Guy’s and St Thomas’s Hospital in London, and a member of the Nuffield Bioethics Council, which oversees the field, says that it is "a step into the unknown" and parents could be unnecessarily worried by the tests.
“Studies have revealed some surprising results, where apparently healthy adults may have genetic alterations [mutations] that we would expect to cause serious disease, and yet they remain healthy. We do not understand why this is, but, by implication, not all babies with apparently harmful genetic alterations will go on to develop a genetic disease.
“Having the aim of early, and in some cases, pre-symptomatic diagnosis of a wider range of conditions, will undoubtedly benefit some children and may even save lives. But it’s important that parents who give consent for their newborn babies to become enrolled into this research project also understand the risks,” says Professor Flinter.
“Ensuring that parents can make informed choices about whether they want their baby to have this kind of testing, and what happens to the genomic data collected, will be vital. Pharmaceutical companies will certainly be interested in acquiring it.”
Professor Flinter points out that many NHS staff, such as midwives, would need to be trained in genetic counselling to support parents who choose the newborn screening, and that this could increase demands on the NHS, where children's services are already under pressure, as parents seek treatment for a child who is asymptomatic and may never develop a particular disease.
However, for Owen and his family, the screening proved life changing. He is now doing well at school, and developing normally. As the frontiers of genomic medicine continue to expand rapidly, Sarah says: "It feels like we've won the lottery, and I'd certainly recommend other parents to take advantage of the screening service if they are offered it, to pick up any genetic variations which might become an issue later in life."