News & views
Since the last time we ran this course – we have been tracking the appearance of genomics in the news in order to assess how salient it is in the ever-changing news cycle.
It has surprised even us how frequently genomics news stories appear. Almost daily we hear about the impact of genomics on healthcare and how gene-directed diagnosis and therapies are transforming our understanding of widely divergent fields of medicine. We thought we would share with you some of the stories we found particularly interesting. They exemplify the extent to which genomics is going to change everyone’s lives, whether as a patient or as a healthcare professional.
Targeting the chinks in cancer’s armour
Researchers from the Wellcome Sanger Institute in Cambridge have announced a major breakthrough in the future development of targeted cancer drugs. In a study published in Nature in April, they describe how they used the CRISPR-Cas9 gene editing system to systematically disrupt every gene in over 300 lab-grown tumours from over 30 types of cancer, to discover which genes are crucial for cancer growth and survival.
The researchers identified over 600 potential new targets for anti-cancer drugs and believe that the development of this ‘Cancer Dependency Map’ of the vulnerabilities specific to cancer cells will play a crucial role in the development of targeted cancer therapies. Whilst traditional chemotherapies work by targeting all cells that are growing and dividing, including normal cells in the body, targeted therapies are designed to specifically attack cancer cells without damaging the body’s normal tissues.
As one of the researchers, Dr Behan, told the BBC, “This is the first step in putting a laser sight on our machine gun.”
Health Secretary Dabbles in Direct-to-Consumer Testing
UK’s Health Secretary, Matt Hancock, caused controversy recently when he shared his own experience of commercial genetic testing.
In a speech to the Royal Society in March, he outlined his ambition for genetic testing to become widely available through the NHS, stating that “I’m determined that we harness this technology to save lives”. He then revealed that he had recently undertaken a commercial genetic test and was “surprised and concerned” to find out that he had a 15% risk of developing prostate cancer by the age of 75, adding that he had made an appointment with his GP to discuss the result and that he would ensure that he didn’t “miss any screening appointments in the future”. He concluded, “The truth is, this test may have saved my life”.
His remarks attracted criticism in the press among experts who pointed out that since the population lifetime risk of prostate cancer is around 12%, his risk was not significantly increased and that, furthermore, there is currently no routine screening test for prostate cancer in the UK. (Whilst those experiencing symptoms should see their GP, the use of a routine screening blood test in the absence of symptoms has been shown to be ineffective.) Professor David Curtis, a geneticist at University College London stated that the Health Secretary had “massively misinterpreted” his score, adding “As a result of his misunderstanding, he first suffered unnecessary anxiety and then took up valuable medical time having to be counselled about the reality of the situation.”
Whilst many welcome his embracing of genomic medicine, Mr Hancock seems to have unwittingly highlighted many of the concerns that people have about direct-to-consumer genetic testing, the confusion that can ensue, and the burden that unpicking it all will bring to already overstretched GPs.
Could a woman who feels no pain hold the key to new treatments?
A woman who experiences far less pain and anxiety than is usual has been found to carry a genetic mutation which doctors hope could hold the key to new treatments.
Jo Cameron, a 71-year-old lady from Inverness was investigated after doctors were astonished by the fact that she required no analgesia after a normally extremely painful operation. She had in the past broken bones and suffered severe cuts and burns without being aware of it. Talking to the Guardian, she said that she had also never experienced panic or anxiety, believing that she was just ‘happy-go-lucky’, and that she tended to be forgetful.
In a case report published in March in the British Journal of Anaesthesia, a team of pain researchers based at London’s UCL, describe how they identified two genetic changes which they believe account for her remarkable insensitivity to pain and anxiety. The first is a genetic variant that is common in the general population in a gene called FAAH, an important mediator in pathways controlling pain, mood and memory, which dampens its activity, slightly reducing sensitivity to pain. The second mutation, however, was something the researchers had not seen before – a deletion across a previously unknown gene they called FAAH-OUT which interacts with FAAH, moderating its activity. The deletion caused FAAH to be totally switched off, resulting in the dramatic insensitivity to pain and anxiety she experienced.
Researchers are now hopeful that FAAH-OUT could represent a novel and exciting target for drugs to treat post-operative pain, and potentially chronic pain and anxiety disorders that currently cause suffering for millions of people worldwide.
Genome-edited twins born in China
A Chinese researcher created a storm of controversy in November 2018 when he announced the birth of twin baby girls born after embryonic genome editing to prevent HIV infection.
Rather than publish his actions for peer review, He Jiankui, a researcher at the Southern University of Science and Technology of China in Shenzhen, made the shock announcement in a video posted on YouTube. He stated that the twins were conceived through IVF, following CRISPR-Cas9 genome editing of the embryos to disable the pathway that HIV uses to infect cells.
The announcement caused international outcry and He’s research was roundly condemned as not only premature and dangerous but seemingly pointless, with critics pointing out that, safety and ethical concerns aside, HIV is not a genetic disease and is a meaningless choice of target given that other safe and effective methods are available for prevention of HIV transmission.
In the UK it is currently illegal to use genome editing on human embryos for fertility treatments that result in pregnancy; the HFEA may grant a licence for genome editing on very early stage embryos for research purposes only. At the time of He’s research, no such law existed in China but, in the face of widespread condemnation of his actions as unsafe and unethical, in February 2019 China’s health ministry issued draft regulations to restrict the use of gene editing in humans.
Which of these stories interests you most and why? Have any other stories about genomics in the press caught your eye?
© St George’s, University of London