Are Gene-Testing Kits Really A Good Idea?
“’It’s like being told you’re going to be involved in a car crash, but you don’t know when it will hit. You know it is going to happen but you can’t do anything about it,” says Amy Burton. The 24-year-old from Kent was diagnosed with pre-type 1 diabetes in 2014 after she tested positive for auto-immune antibodies associated with the condition in a medical trial.
Burton had initially signed up as her younger sister has lived with type 1 diabetes for the past six years and she thought the experience would make an interesting blog post. She wasn’t expecting to find out that, within the next five to 15 years she, too, would have the condition: “I did sob when I heard,” she says.
Burton already knew how devastating type 1 diabetes can be, with complications such as blindness and amputations, while research also shows it can cut your life-expectancy by more than a decade. Now, she is constantly aware of her pre-diabetic status, has started exercising more and – although she has a healthy BMI – is conscious of even the smallest weight gain, despite her medical team being very uncertain thatsuch lifestyle changes will help delay onset. “I try not to obsess over it, though. I was upset and angry, but there was nothing anyone could say to make it better. I’ve had to come to terms with it.”
With gene testing on the rise in the UK, she is not the only one in the difficult position of having to come to terms with an illness she is “genetically fated” to develop. According to a 2015 government-commissioned report, the UK genomic industry is worth £800m, yet to date only about 5% of this revenue comes from companies and researchers looking to apply the information we are learning about the human genome to help develop new drugs and create new treatments. Genome sequencing and – to a lesser degree, genetic analysis – may be a rapidly advancing market, but the report found that “interpretation and application will take time” – scientists are still struggling to find cures for the vast majority of genetic conditions.
This leaves relatives such as those of Alison Dagul in the unenviable position of knowing they may develop a serious illness in the future but being unable to do anything about it. Dagul, 54, from north London, was tested for the BRCA gene – which recently affected Angelina Jolie – after being diagnosed simultaneously with two rare stage-four cancers of the breast and ovaries in 2014. Her oncologist thought it likely she had the gene responsible for 15% of all ovarian cancer diagnoses, and when her test confirmed his suspicions, the rest of the family was tested, too – with her daughter’s coming back positive. “I found it really hard to deal with,” says Dagul. “To find out my daughter was a carrier, too, it was as if my world was crumbling around me. I felt terribly guilty.”
Dagul’s daughter, Gaby, who has a 50% chance of developing cancer as she ages, has decided to have a double mastectomy by the time she is 30 and her ovaries removed once she has had children. She has also been approved for pre-implantation genetic diagnosis IVF to make sure she doesn’t pass “this deadly inheritance on to her children”.
Dagul says: “It is heartbreaking she has to do this, but as least she can avoid what I am going through. She can change her destiny, I can’t.” A refrain she repeats often is “Knowledge is power”, and she is adamant that despite the inability to alter our genetic code, screening for the BRCA gene should be available on the NHS. After intensive chemotherapy sessions, she is now on the inhibitor Avastin and her life expectancy is uncertain.
Katherine Taylor, CEO of Ovarian Cancer Action, thinks that it is inevitable some people will opt for private genome screening, but this concerns her: “These are life-changing pieces of information. If I buy a kit over the counter, there is not a counsellor at the end of the phone and there isn’t support around you. With the BRCA gene a woman’s risk of developing cancer changes with age – it is very important to have someone like a genetic counsellor to talk through the consequences with.”
The leading supplier of gene-testing kits in the UK, 23andme, unsurprisingly doesn’t share these worries. The Californian-based company has had 1.2m global users to date. For £125, its service screens for the most common BRCA genetic mutations in the Jewish population, and looks at the genetic risk of developing Alzheimer’s disease, some blood disorders, and whether one is a genetic carrier of conditions such as sickle cell anaemia and cystic fibrosis.
Erynn Gordon, director of clinical development at 23andMe and a board-certified genetic counsellor, says: “It would be easy for me to say everyone should have counselling before and after, but data [on the issue] suggests that people can handle this information, and are able to understand it independently, and that has really changed my perception.”
Gordon is referring to a US study last year, which showed that, on average, people scored 79% in tests that looked at how well people understood the results of direct-to-consumer testing. More specifically, she cites another study that found that only four out of 25 people who unexpectedly tested positive for the BRCA1 or 2 genes using 23andMe services reported moderate anxiety, with none reporting extreme anxiety.There are days when I wish I hadn’t signed up to the trial, but I wouldn’t rewind time
Whatever the concerns about how we will cope with the implications of genetic screening, it is clear that it is on the rise. Nick Meade, director of policy at the charity Genetic Alliance UK, says: “While we don’t see a large uptake of genomic screening happening anytime soon in the UK, concerns around the potential mental health fallout is exactly why people have to think very carefully about taking a genetic test to understand, before they do so, the consequences of the result.”
For Burton, knowledge is, indeed, power: “There are days when I wish I hadn’t signed up to the trial, but I wouldn’t rewind time. I think I’m better being informed. At least this way I feel better prepared and more in control of my life.”