This Huge New Genetic Study On Bipolar Disorder Could Change The Way We Treat The Mental Illness
This could be a revolution for diagnosing and treating the disorder.
Cayenne Barnum is a 24-year-old artist and designer who has bipolar disorder.
While she was officially diagnosed at 20, Barnum struggled throughout her teenage years to get a clear diagnosis of her mental illness.
"It takes so long to diagnose because it manifests in so many different ways," she told BuzzFeed News.
Barnum is currently in the process of weaning herself off Seroquel, an antipsychotic drug that she was originally prescribed for her manic periods, but that had taxing side effects for her body.
"It turned out that it had made me put on 18 kilos or something, so right now I'm getting off that and I'm on a weight-loss supplement that people with diabetes take so they're not hungry."
Bipolar disorder is a chronic mental health condition that's characterised by extreme mood changes; people with the disorder cycle between manic, hypomanic, and depressive periods that can last a week or longer and severely affect thought patterns and behaviour.
Along with the Seroquel, Barnum currently takes two other medications to stabilise her mood, but she said that she has to constantly attend to the dosages and types of drugs she's taking depending on whether she is experiencing depressive or manic symptoms.
"No matter what, throughout the year, at no given time am I on the same medication," said Barnum.
Barnum said while this is inconvenient, being unmedicated is not an option for her manic episodes because of the reckless things she does if she isn't using her medication.
"You do stupid stuff, I've gotten a few tattoos, I've cut my hair, I've done some really silly things — I've jeopardised my work," she said.
Bipolar disorder has two clinical presentations: bipolar 1 and bipolar 2, which are defined by the length of their mood cycles and the severity of manic episodes (Barnum has been diagnosed with bipolar 2, which has less severe mania than the other form). The Australian prevalence of bipolar 1 is around 1%, and bipolar 2 is around 5%.
Both forms of bipolar disorder are infamously difficult to treat effectively.
Now new research from the Queensland Institute of Medical Research (QIMR) is looking to change that by cracking the genetic code of bipolar as part of the largest study of the disease ever undertaken.
The QIMR Berghofer Medical Research Institute (BMRI) is currently trying to recruit over 5,000 participants for the Australian Genetics of Bipolar Disorder Study, which will be running until the end of 2019.
The project is part of the larger International Genetics of Bipolar Disorder Study, which is attempting to collect the genetic data of 100,000 participants worldwide.
Professor Nick Martin, head of the genetic epidemiology laboratory at BMRI, told BuzzFeed News that genetic testing has the potential to revolutionise the way that mental illnesses are diagnosed and treated.
"At the moment there are some good pharmaceuticals out there, and they have been developed with some knowledge of neurochemistry, but there's a huge amount of the jigsaw puzzle that's not filled in," said Martin.
One of the current standard drug treatments for bipolar disorder is lithium, which is used to reduce the severity and frequency of mania and relieves the depressive periods of the disease.
Lithium has varying degrees of success among individuals and can cause adverse side effects, like thyroid and kidney problems, as well as sexual dysfunction.
Using genetic testing, researchers may be able to design more precise drugs that target individual presentations of bipolar disorder.
The study involves an online questionnaire for each participant as well as a saliva sample test that will be used to determine genetic information. Detailed questions are asked about patients' history with medication so that genes can be linked to successes or failures with certain types of pharmaceuticals.
The BMRI also ran the Australian Genetics of Depression Study last year, collecting the data of over 16,000 patients and twice that amount of control subjects (people who haven't been diagnosed with depression), which will be analysed in full by the end of the year, according to Martin.
Bipolar disorder has a larger genetic link than depression, with 80% of the condition thought to be caused by genetic input (environmental and medical factors also contribute to onset of the disease), while only 40% of depression is associated with genetics.
Martin notes that there are already about 20 genes known to be associated with developing bipolar disorder, but the aim of the research is to discover more.
Martin believes that this genetic study will also allow for easier diagnosis in the future, and opens up the possibility that people can be assessed for risk of developing the disorder earlier in life.
"I think these [studies] are going to be an aid to diagnosis because at the moment there's a sort of fuzziness in psychiatric diagnosis between the big three: schizophrenia, bipolar and depression," he said.
This research will allow clinicians to understand the link between these diagnoses and assess them as conditions more along a continuum than altogether separate illnesses, said Martin.
"We already know from the work that's been done so far that there's quite a genetic overlap [among these three conditions] ... this is going to revolutionise psychiatric diagnosis."
Martin said that genetic understanding of bipolar disorder can be used to specialise treatment and potentially create preventive treatments before it develops in people in the future.
Barnum strongly supports the idea of individualised medicine for bipolar disorder treatment, particularly because those who have it commonly experience other mental health conditions in addition, such as obsessive-compulsive disorder (OCD), anxiety disorders, post-traumatic stress disorder (PTSD), self-harm, and eating disorders.
However Barnum also stressed that, until it becomes available, patients diagnosed with the disorder should still be optimistic about their treatment options.
"When I got told [I had it], it sounded like a life sentence and there aren't enough people out there like me being like, 'Hey, you're going to be okay, you can do stuff, your life isn't over when you have to start taking antipsychotics'."