OnMedica – News – Genetic testing "will save the NHS time and money"

An increasing number of concerned patients will be consulting general practitioners to discuss limiting results, warns RCGP

Genetic testing will allow the NHS to save time and money in the long run by encouraging people to work with clinicians to take better care of themselves, said Matt Hanbad. claimsalthough they need help and support to make sense of their genetic data. The Royal College of General Practitioners (RCGP) agreed with the Secretary of Health and Social Affairs that information should be treated with tact and ethics. warned that an increase in tests of "unimportant or questionable value" will lead to confusion and distress, and to an increasing number of people visiting their general practitioners worried about their results.

Yesterday, Matt Hanbad helped celebrate the "first global feat" of 100,000 sequenced whole genomes to aid the diagnosis and treatment of rare diseases. He explained that only last week, he had discovered the results of his own predictive tests for polygenic risk – he was one of the 3% of the population with the lowest genetic risk of heart disease, but in 20% of cases the more serious prostate cancer. "Death from prostate cancer is easier to treat if diagnosed early [but] so many men do not find out until it's too late … I've already booked a blood test and, of course, I'll be alert as soon as I get older. "

He said that experience had taught him that the way the results are presented is really important. He said: "You need an expert to help you understand the data, and a clinician to tell you what it means medically … your genes are only a part of it. , and not even most of the risk. "

He called for clarification of the respective roles, science and ethics of polygenic predictive tests, compared to whole genome diagnostic sequencing: while predictive tests have great implications for screening, genomics can make screening cancer more targeted and more effective. He commented, "I see him [predictive testing] as a game changer for cancer screening in the NHS, and I'm determined to use this technology to save lives. "He described sequencing the entire genome as" revolutionary "and" revolutionary "for rare diseases because it is a diagnostic test of absolute certainty, and early diagnosis can have a huge impact and immediate on the improvement of the chances of someone.

However, he warned that the tests raise other issues, especially on hereditary diseases; ethics, privacy and consent; and operational issues. He welcomed the new genomic medicine department of the NHS, but noted that there is still much to be done. "How do we train doctors and nurses to understand genetic data, including these new predictive tests, and explain it to help people make the best decisions? … Thousands many people are already doing predictive tests, and many are now coming to their GP with their results in hand …

"Some people say that we should not encourage the" well worried. "I think that's not the right answer, we need to understand that people will have real concerns and we need to bring them the help and the the support they need to make sense of their genetic data. "

He argued that encouraging people to take better care of themselves would enable patients and clinicians to jointly prevent problems, which would save the NHS time and money in the long run. He said, "Of course, it also means supporting our GPs and our front-line clinical staff. We need to get the numbers right – we now have a record number of GPs in training and we have the largest increase in primary care and community care for a generation. "

He added: "We are already providing support and advice to people, but we need to ensure that these services keep up with the evolution of predictive tests."

The RCGP agreed that genomics research would play an increasingly important role in defining patient care and called for an appropriate badessment of the progress of medical research to ensure that they will benefit patients. He also emphasized that genomic data should be used responsibly, ethically and in a manner that does not increase pressure on the NHS without the appropriate mitigation measures in place to deal with it.

Helen Stokes-Lampard, University Professor, warned, "Many things that will be detected by genetic testing will be unimportant or of questionable value and could leave people unnecessarily confused and in distress. This will undoubtedly lead to a growing number of worried people wanting to consult their GP to discuss their borderline results, at a time when general medicine is already struggling to cope with intense demand – and where millions of patients are already waiting too long for get an appointment. "

She added that to properly support patients, general practitioners will need training and access to high quality, up-to-date resources to become familiar with the implications of various outcomes. She said: "In the event that a patient discovers he or she is at increased risk of developing a life-threatening or serious illness, such as cancer, it is essential to have the services of appropriate specialists to help him or her understand. the implications of the disease. results. Genetic testing should never be taken lightly – we are talking about sensitive patient data, with potentially serious medical and ethical implications for the patient and all of his genetic parents. People really need to consider these implications carefully before deciding to pbad a genetic test. "