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Home » Latest News » Genomic medicine provides a medical diagnosis after 25 years: a double-edged sword?

Genomic medicine provides a medical diagnosis after 25 years: a double-edged sword?

Genomic medicine provides a medical diagnosis after 25 years: a double-edged sword?

The advancement of modern medicine means that Lauren Elvy, who lives in Kent, has been given a diagnosis some 25 years after it was first noticed that she wasn't hitting some developmental milestones.

In the intervening years Lauren developed a number of medical problems and was thought to have cerebral palsy, although doctors were unable to confirm her diagnosis.

Lauren told her local newspaper: "Many of my friends have disabilities but there was never anyone with exactly the same thing as me. They all had a diagnosis for their condition and I felt the odd one out.” 

Dr Rachel Jones, a consultant in clinical genetics and clinical scientist at Guy’s and St Thomas’, said: “I was delighted to finally be able to give Lauren an answer for why she has the problems she does, after years of genetic testing as well as many other diagnostic investigations. While there isn't currently a treatment targeted specifically for Lauren's condition, it still provides information about her future as well as an explanation for what has happened in the past.

We know that many people with genetic conditions which have remained a mystery for some time find having a name for their condition very empowering. The introduction of whole genome sequencing means we will be able to help many more families find their diagnosis, without waiting as long as Lauren."

Dr Jones added: “Initial analysis of Lauren’s 100,000 Genomes Project data did not reveal her diagnosis, and it was further research into this using information from other members of her care team that enabled me to find it. This discovery will help other people in the project and, going forwards, other people having their genome sequenced in the NHS will receive a much more timely diagnosis."

100,000 Genome project

The correct diagnosis came about because, with her parents, Lauren signed up to take part in the 100,000 Genomes Project.

This project was set up in 2013 by Genomics England and involved sequencing 100,000 genomes (the DNA instruction manual in most cells in each human body, using 4 letters in its alphabet) from people with rare diseases or cancer.

As part of the project a laboratory sequenced Lauren's genome  (ie read the correct order of letters in her entire instruction manual), and discovered a change in the letters in a gene causing one of the Congenital Disorders of Glycosylation (CDG). This is a large group of rare inherited diseases affecting glycosylation,  the process of adding sugar building blocs to proteins. This can affect every part of the body.

In Lauren’s case the correct diagnosis won’t change her treatment but it does give her an explanation of why she has her difficulties. Something she has waited a very long time to know. She can now join support groups and talk to others who also have this condition.

The U.K. 100,000 Genomes Project was set up to look at undiagnosed rare diseases, cancer and infection. The 100,000 Genomes Project aims to bring the benefits of personalised medicine to the NHS.

It has proved to be successful. For example, in a recent study the researchers made genetic diagnoses in 25% of those with an unknown condition and, of those, 25% led to immediate clinical benefits to that family.

Rare genetic diseases

Although rare diseases are individually very uncommon, because there are between 5000 and 8000 of them, a surprisingly large number of people are affected in total – 3 million – or, put another way one in 17 (or between 6 and 7 percent) of the UK population. Genomics has great potential for both because both rare disease and cancer are strongly linked to changes in the genome. 

An early beneficiary of this project was reported in 2015 when a person’s kidney failure was found to be caused by a particular genetic variant. The man’s family could also benefit as  their blood pressure could also be effectively controlled by drugs available on the NHS.

At least 80 percent of rare diseases are genomic with half of new cases found in children. Knowledge of the whole genome sequence may identify the cause of some rare diseases and help point the way to new treatments for these devastating conditions – vital progress given that some rare diseases take two or more years just to identify. 

Cancer genetics

Cancer begins because of changes in genes (these are instructions for individual proteins) within what was a normal cell. Although a cancer starts with the same DNA as the patient, it develops mutations or changes which enable the tumour to grow and spread. By taking DNA from the tumour and DNA from the patient’s normal cells and comparing them, the precise changes are detected.

This may help to catch the development of cancer much earlier for a person, and other members of their family.

Double-edged sword

This new, and developing, area of medicine is welcome. As always where there are pros then there will be cons. It isn’t easy to predict now what they may be, especially as the outcomes will affect other members of a family, not just the person who receives a diagnosis.

People make decisions based on the information they are told. A misdiagnosis, leading to mistreatment could have consequences for more than one family member. This could impact claims for clinical negligence.

Successful claims for clinical negligence based on incorrect genetic testing, diagnosis or treatment are rare. At Bridge McFarland LLP  we have a specialist clinical negligence solicitor who had a previous career in molecular genetics. That has enabled him to assist members of the public to be compensated for such cases. In particular a claim where there was a misdiagnosis in a child born with Fragile X syndrome.

The solicitors in the clinical negligence team at Bridge McFarland have many years experience of working for those who have suffered from clinical negligence. Over the years we have obtained many millions of pounds in compensation to help those affected lead as normal a life as possible.

Dr Darren Conway Ph.D. is a solicitor in our Clinical Negligence Department. Prior to qualifying as a solicitor he had a career in genetics, obtaining his Ph.D. in London. As a Geneticist, he worked on several cutting-edge projects to identify the genetic cause of specific neurological conditions, mainly at the Institute of Neurology and University College, London and at the Children’s Hospital of Philadelphia (USA).

If you think that you, or a loved one, may have suffered from negligence and are entitled to claim compensation then please contact us
https://www.bridgemcfarland.co.uk/contact for a free initial enquiry.

https://www.kentlive.news/news/kent-news/rainham-womans-huge-relief-rare-6591384

https://www.guysandstthomas.nhs.uk/news-and-events/2022-news/february/20220204-woman-with-mystery-disorder-gets-diagnosis.aspx

https://www.genomicsengland.co.uk/about-genomics-england/the-100000-genomes-project/

https://www.kentlive.news/news/kent-news/rainham-womans-huge-relief-rare-6591384

https://www.england.nhs.uk/genomics/genomic-research/100000-genomes-project/

https://www.nejm.org/doi/full/10.1056/NEJMoa2035790

https://www.genomicsengland.co.uk/first-patients-diagnosed-through-the-100000-genomes-project/

https://www.genomicsengland.co.uk/about-genomics-england/the-100000-genomes-project/