Genomic Medicine: Are We Ready?

Siobhan Harris


September 07, 2018

2018 is a milestone year for genomic medicine.

From October, a new NHS Genomic Medicine Service (GMS) is being rolled out across England. Thirteen regional centres will help to make genomic medicine an integrated part of routine healthcare.

By the end of the year Genomics England predicts it will have sequenced 100,000 whole human genomes in a ground-breaking project that began in 2012.

Those who have taken part in the project so far are people with a rare disease, plus their families, and patients with cancer.

"The NHS GMS launch is simply firing the starting gun says Bill Newman, professor of translational genomic medicine and vice chair of the British Society of Genetic Medicine. "The genomic medicine community has been in training for years. This is a focus point to work out how things are restructured for the future."

Personalised Medicine and Treatment

Genomic medicine has huge potential to improve patient care, through diagnosis of rare diseases and for more personalised targeting of medicines and treatments. It also has the scope to help predict and prevent diseases.

"The new NHS GMS will be responsible for genomic testing. Patients will move from enrolment into the 100,000 Genomes Project, into receiving a range of genomic tests as part of their routine NHS care," according to Professor Mark Caulfield, chief scientist at Genomics England.

Genomics England says some patients involved in the genomes project have already benefitted, either because they have received a diagnosis for the first time or because a better treatment has been identified for them. Generally though, the benefit will be felt by future patients after researchers study and analyse the project participants' genomic data.

"Genomic medicine is a numbers game – the more sequences researchers can access, the greater the potential for revolutionary discovery, adds Prof Caulfield. "A possibility is that genomics undertaken early in life will help prevent rare and common disorders in early, middle and later life."

Digital Infrastructure and Training

The potential benefits to health care are transformative. But there are challenges too.

A report by MPs in April 2018 pointed to issues around digital infrastructure delays and reduced training budgets, which could have an impact on genomic medicine.

The Science and Technology Select Committee report also suggested there were ethical concerns over the collection and use of patient data which needed to be addressed.

It called for:

  • Investment in digital infrastructure

  • Preparation of the NHS workforce

  • Ensuring public understanding and support

  • Capturing the commercial value of its datasets

  • Publishing an evaluation of the 100,000 Genomes Project

The Government responded to points made in the report but Chairman of the committee Norman Lamb still has concerns. "Genomic medicine offers a real opportunity to improve NHS care for patients with cancer and rare diseases but, as the Science and Technology Committee identified earlier this year, there are issues with digital infrastructure, workforce training and public awareness that urgently need to be addressed before the Genomic Medicine Service rolls out this October," Mr Lamb said.

"Despite agreeing with many of our recommendations, the Government’s response did not set out a clear programme of action to resolve these issues. Budgets appear to still not be confirmed, the consent framework has not yet been published and the NHS workforce review won't even publish its recommendations until after the Genomic Medicine Service has been launched," he added.

Will it Translate to Real-life Treatments?

The report suggested conventional diagnostics for given conditions should be maintained alongside whole genome sequencing until the case for replacement is proven.

"The major challenge for genomic medicine is moving it from a fascinating technological aspect of medical science to meaningful therapeutic advances for common diseases," according to Dr David Levy, a consultant in diabetes and endocrinology.

"The challenge, therefore, is to translate the advanced scientific and IT methods used in current genomics to real-life treatments," he added.

"There are certain areas when genomic medicine applied in a systematic and useful way can be transformative – for example in a neonatal intensive care setting – where a diagnosis will determine what treatment may be appropriate. It has greater use in certain disciplines like oncology, neurology, and cardiology. In other specialisms it will be less relevant," explained Prof Newman.

Lack of Public Understanding

Public perception is also a challenge. The MPs report stated that 82% of the British public had never heard of genomics or had little understanding of it.

If people are aware of genomics it may well be down to the Angelina Jolie effect. The Hollywood actress underwent a double mastectomy in 2013 and later ovarian cancer risk reduction surgery after finding out she had the BRCA1 gene, which gave her a high risk of developing breast cancer and ovarian cancer.

That is the general public's most likely introduction to genomic medicine. As the discipline develops and people realise the different genetic risk factors in cardiovascular disease, stroke, and diabetes, for example, they may become more aware and engaged.

"Some patients with a particular family condition are more conversant with genomic medicine than many health professionals, according to Prof Newman. "Public perception is improving especially among younger people as they access their information in a more direct way and are freer with how they share their information in general. However, there is a need to balance sharing information and respecting confidentiality."

Cost Implications

The NHS is often referred to in the media as being "cash-strapped", so will the public be far-sighted enough to see the long-term benefits of genomic medicine?

"The questions for the majority of users of the NHS are, will this probably very expensive project divert money from other more pressing immediate clinical needs like elderly care, keeping waiting lists down and managing winter crises?" asks Dr Levy.

First Point of Contact

GPs are generally the first port of call for people with health concerns. As genomic medicine becomes more prevalent, people will be asking questions of their GP.

In addition to their present workload, they'll need to have an understanding of genomic medicine and the ability to explain it to their patients.

The Royal College of General Practitioners (RCGP) has produced educational and training resources, including webinars and podcasts to familiarise its members about genomics.

"GPs have so many other things to do, [so] it may be challenging to apply new knowledge, says Prof Newman. "Most GPs, if they have a patient with a rare condition, will study up on it."

It's not simply about genetic testing through the NHS. There are an increasing number of private companies and labs offering genetic testing. People can also buy genetic testing kits for use at home. It's often a kit for a mouth swab which gets sent off to a lab.

The accuracy and usefulness of such tests has been called into question. Without guidance from a healthcare professional it can be hard to interpret the results. It's GPs who may be called on to give explanations.

Commercial Value of Genomics

The Government is committed to genomic medicine. It can save lives but also potentially make money.

In its response to the report by MPs earlier this year, the Government agreed in principle that Genomics England should maximise the full commercial value of the genomic datasets it holds.

"As this is an emerging marketplace, it is not yet clear how the global market for dataset access will develop – but the UK is in a powerful position to realise rewards as it matures, subject to appropriate, safe, secure and lawful uses of data," it stated.

"Genomics England is currently exploring the potential opportunities for commercial returns from the knowledge and analytical tools developed in the 100,000 Genomes Project," said Prof Newman.

He said: "There are many different areas of research in the field of genomics that it's hard to predict what the future holds. Britain has a world leading genomic medical community, the launch of the new GMS is built on the shoulders of the patients and their families who've shared their experiences."

Genomics has the potential to be revolutionary, to save lives, and offer hope.

The challenge is making genomics a part of everyday routine healthcare.


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