To Test or Not to Test?

In October 2018, the National Health Service (NHS) will begin to routinely offer genomic testing. This is a move that likely makes it the first health service in the world to do this. Hospitals across England will be connected to a network of specialists who will read, analyze, and interpret DNA. This will effectively create a national platform for precision medicine. People who are undiagnosed, suffering from cancer, or receiving a prescription drug for which there is a companion diagnostic will receive a variety of genomic medicine services.

For example, patients with tumors or leukemia will receive mutation analysis to aide in the determination of the best treatments. Undiagnosed babies and children admitted to intensive care will receive sequencing to speed diagnosis and perhaps tailor treatments. This will be done on a national basis, not region by region as in the past. As a result, people in England will all have access to genetic testing without disparities determined by geography or regional experts' preferences.

Genomics England, funded by the Department of Health and Social Care, has set up seven hubs around the country to deliver genetic testing. If whole genome sequencing is needed, that will be provided by a laboratory in Cambridge. As is often remarked, the testing is the easy part, and the interpretation vastly more difficult and, therefore, costly. The NHS has contracted with multidisciplinary teams of specialists at 13 national genomic medicine centers to manage the interpretation and reports. The NHS will create a national directory and update it regularly.

This builds on the 100,000 Genomes Project, run by Genomics England. This project, which began in 2012, has sequenced about 80,000 genomes (Genomics England, 2018). The lessons learned by this project are centered around these original goals, which now will likely benefit the national healthcare: (1) improve diagnosis of rare disease, (2) understand how genomics impacts on health and healthcare, (3) suggest which treatments might work best for an individual, (4) understand the causes of disease better, and (5) develop new treatments. It appears that England was wise in investing in a project, managed by the government, that allowed shared learning, even as they shared data.

In a blog in March of 2018, Dame Sue Hill, the Chief Scientific Officer for England, wrote about this development. She wrote (Hill, 2018):

To make the testing effective and affordable we need to ensure the approach:

Is appropriate for patients' conditions, so that the right test is used at the right time, resulting in the best possible patient outcome. This applies to everything from simple single gene tests to confirm cystic fibrosis, sickle cell disease or Huntingdon's disease, to panels able to analyse multiple genes and identify, for example, genetic mutations that may increase an individual's likelihood of developing cancer. By analysing the 3 billion letters in an individual's genome and combining this with clinical information, we will provide many more families with a diagnosis of complex rare diseases, years faster than we can today.

Supports clinical decisions, so that genomic testing becomes a key part of the clinical assessment, and not just another test. To do this we are introducing a National Genomic Test Directory, working closely with Genomics England to bring together evidence about which tests available are the right for different patient management. Through the Test Directory, clinical teams across the country—from Berwick to Bodmin and from Morecambe to Margate—will be able to access information, supporting the ordering and utility of genomic testing across the NHS.

Is as up to date as possible, so that for the diagnosis of any condition, management or treatment, the Test Directory and national genomic laboratory network reflects the current evidence and best practice. We will work closely with Genomics England to annually review the latest evidence, update and upgrade both testing approaches to ensure they remain cutting edge including in their detection of genomic mutations.

Becomes part of the day-to-day NHS, so that genomic technologies can be part of a whole care pathway. Eventually patients will quickly find out if they have cancer, monitor cancer or learn how they might react to certain drugs through only a simple blood sample.

Constantly improves, so that testing is aligned with the whole of the NHS' research efforts and delivers more accurate diagnosis. This will mean that we are working with industry to drive the discovery of new drugs and that the most appropriate clinical trials are identified for patients to join, further adding to the UK genomic knowledge base.

There are many deficiencies in most health systems in developed nations, and even greater deficiencies in developing nations. It will be fascinating to understand the impact of such a sweeping decision on the health of a nation. In the United States, there is often a fight with payers to reimburse for genetic and genomic testing. There is a downward trend in coverage for genetic testing in the United States. As Bruce Quinn, a former Medicare director, reports in his blog recently, “In 2014, spending on just three pharmacogenetic codes was over $300 million dollars, about 55% of Medicare's molecular pathology (MoPath) spending for the year. By 2016, spending was down to $18M, about 3% Medicare's MoPath spending (which was lower in total in 2016 than 2014)” (Quinn, 2018). Quinn references some concern by the Office of the Inspector General about fraud and inappropriate use. Payers are often concerned by inappropriate and overuse.

Genetics health professionals, such as genetic counselors, often comment that they spend a good deal of their time trying to get genetic testing covered. A bill in the House of Representatives, H.R. 5062, will give states the option of providing assistance to certain “eligible” children to receive whole genome sequencing (H.R. 5062, 2018).

The looming question, as England enthusiastically integrates genomics into medicine, and the United States seems to apply the breaks, is what is the ultimate benefit for those who are affected by diseases for which testing is available? The best systems assess the benefits and risks as the program is implemented. It appears the NHS has that in its plans. Stay tuned for the results.