Genetic and genomic testing has been a hot topic in the healthcare industry in recent years. The NHS has introduced a Genomic Medicine Service (GMS) in an aim to ensure equitable access to genetic and genomic testing and integrate this into routine NHS care by 2025, driving more personalised treatments for patients.

Rapid genetic and genomic testing has proven to significantly decrease the time taken for diagnosis and reduce healthcare costs overall. The growing need for these tests to be made available on the NHS is clear.

Plans to develop the NHS GMS began in March 2017 and is now set to be rolled out across England starting April 2020. In December 2018, the NHS also successfully completed their contribution to the 100,000 Genomes Project. Their plans include using all technologies available for genomic testing, from single-gene to whole genome sequencing, along with building a national database that will help clinical trials and research.

Originally, 90,000 samples were to be collected and sequenced by the genomic medicine centres, but instead more than 106,000 samples were collected. Of these, more than 70,000 samples were for rare diseases and 35,000 for cancer. NHS England has now committed to sequencing 500,000 whole genomes by 2024 to help build their national database.

Many want to see whole genome sequencing being offered at birth. 80 families have been offered the new £2,000 tests on the NHS as of now, and around 50% were given a diagnosis within days, a huge contrast compared to the weeks that the standard tests take to arrive.

Understanding how a person’s genome can determine the way they respond to drugs is extremely important. This is pharmacogenomics. Some inherited genetic differences in drug metabolic pathways can affect this. Around 1 in 15 hospital admissions occur from adverse reactions to prescribed drugs, and the typical drug efficacy is generally 30-50%. Whole genome sequencing in routine NHS care will allow a more personalised approached as to which drugs are prescribed, providing a higher success rate and avoiding adverse reactions.

A story published in the Rady Children’s Hospital Healthy Kids magazine shows the story of Rylee, a child who had such severe symptoms that could not be explained by old-fashion genetic testing. At four months old, Rylee was incredibly sick with uncontrollable shaking, inability to roll or push up, and a few months later started to experience eye spasms, irritability, exaggerated startles, and excessive sweating. The old-fashioned genetic testing carried out only looked at a few genes that doctors thought could be playing a part. These results took weeks to come back, and each time they came back negative.

After a referral to a doctor with experience in treating neurotransmitter disorders, Rylee’s symptoms were recognised as ones much like another patient with cerebral palsy. Since Rylee went undiagnosed for a whole year, rapid whole genome sequencing was requested and the results received after just six days. It showed she had two variations in the gene that codes for the enzyme tyrosine hydroxylase and was immediately put on suitable treatment. Now, Rylee is an energetic child with a bundle of energy, but still developing slower than others her age.

Stories like Rylee’s highlight the impact that rapid whole genome sequencing can have on the wellbeing of patients. Instead of looking at single genes one at a time, the whole genome can be analysed to look for abnormalities that may be causing a disease at much faster rates and allow doctors to provide more suitable treatments. With the new NHS genomic medicine service set to be rolled out soon, more patients can benefit and receive the treatment they need as fast as possible.