In April 2003, the Human Genome Project announced that they had, for the first time, sequenced the some 50-300 thousand base pairs that make up the human genetic structure. This in-depth knowledge of the genetic code was lauded as a breakthrough that would allow the rollout of medical interventions personalised to each individual.
Almost 20 years later, the NHS is preparing for clinical genetics to become more embedded into daily practice. We took a look at the plans for integrating genomics into clinicians’ work, and the issues we face in ensuring these interventions are used in a way that improves patient safety and satisfaction.
Don’t get left behind in the genomics revolution
Genomics will become a part of all of our lives as medics, in one way or another. How do you catch up on what you need to know without wasting time thumbing through your old textbooks and notes from medical school? You won’t need to know most of that theory.
Medics.Academy has been thinking through this problem with Guy’s and St Thomas’ NHS Trust (GSTT). GSTT is partnering with the Medics.Academy team to reconsider how clinicians gain the knowledge they need to be part of the Genomics revolution. If you would like to stay up-to-date on where this goes, we’ve set up a separate mailing list just for that purpose. Click here and sign up to stay in the loop about Nucleus.
The 100,000 Genomes Project
The 100,000 Genomes project was aimed at collecting and sequencing DNA samples from 100,000 people with rare diseases or cancer. They achieved it in December 2018, with the data from over 100,000 genomes being released to researchers in July 2019.
Volunteers were recruited from across the UK and had their genomes sequenced free of charge. Any results that were relevant to the clinical management of their conditions were fed back to their clinicians, and were able to provide the necessary counseling.
It is hoped the huge amount of data that has been processed will allow clinicians to diagnose and treat rare conditions and cancers more effectively.
The data is also being used by researchers to recognise the gene variants that may be behind very rare diseases, and to develop treatments targeted to specific gene variants.
We already sequence specific genes from certain cancers, like breast cancer, in order to target treatment. The National Genomic Test Directory provides information on the types of patients who are eligible, and the tests they and their doctors can access.
It is hoped that with greater availability of genetic data, like that collected in the 100,000 Genomes Project, we will gain a fuller understanding of the genes linked to a variety of conditions. This will allow us to select treatment that is more likely to be successful, and/or have less side effects.
Direct to consumer genetic testing
Direct to consumer genetics tests include brands like 23andMe. Through simple home administration of a cheek swab, these tests claim to be able to give customers a profile of the conditions they are ‘genetically predisposed’ to.
The market for these tests is mainly unregulated and customers may find themselves in possession of lots of genetic information that they are unable to properly interpret. The companies usually don’t offer any pre-testing counseling, either.
The data protection of genomes is also a worry, particularly those given voluntarily via direct to consumer genetic tests. With no robust legal precedent about who owns this data, many have argued that we need international industry regulation to prevent parts of it being sold off.
Voluntary genome testing
In January 2019, the Health Secretary, Matt Hancock, announced that, in an expansion to the 100,000 Genomes project, healthy volunteers would be able to pay to have their genomes sequenced by the service. People accessing this scheme would receive information about their genetic code in return for their genome – fully anonymised – becoming part of the data bank used by researchers. This is part of Government ambitions to sequence 5 million genomes in the next five years.
So far, it is unclear how this scheme will be managed or how much it will cost. But there is a risk that the scheme may unfairly disadvantage those who are unable to financially access it.
Impact on clinical practice
Concerns have been raised about the impact of routine genetic testing on clinical practice. If healthy people undergo genome testing, even using direct to consumer tests, they are likely to return to the NHS to seek advice on the interpretation of results. GPs are already seeing patients needing advice about the results of tests like 23andme. This means that clinicians who may not have had much exposure to clinical genetics since learning the basics at medical school will need effective training in interpreting and counseling patients.
Whole genome testing often does not provide definitive answers, especially in people who are currently healthy. Clinicians will need to have the skills to explain this uncertainty to their patients.
About the Author
Anna Harvey is a final year medical student and Medics.Academy Fellow. She is interested in women’s health, education and journalism. You can find her tweeting about writing, music and running at @a_c_harvey