Genomics has, perhaps more than any other field, been plagued by misconceptions. From oversimplified explanations in high school biology classes to sensationalised scenes in science fiction movies, it’s no surprise that certain misunderstandings have become so commonplace.
However, with genomic medicine playing more of a role in modern healthcare and in wider society (not least during the pandemic), it is increasingly important that we address these misconceptions so that patients and the public have a better understanding of what is going on – and what is not.
In this feature, we look at some common misconceptions, investigate the sources and look at some solutions.
A complex field
The central dogma – DNA to RNA to protein – suggests a simple three-step process that underpins life as we know it. But the reality of the genome is far more complex. A plethora of post-transcriptional processes play vital roles in controlling our bodies and the world around us.
Figure 1: Diagram describing the central dogma of biology. Taken from the National Human Genome Research Institute.
Of course, the complexity of genomics is not something that everyone has the time to understand. And it isn’t the only complicated field – even the most well-educated geneticist could only tell you so much about physics. But misconceptions around genomics, and other biological fields, have the potential to seriously harm people’s attitudes to healthcare.
The COVID-19 pandemic brought to light the importance of understanding the need for certain public health measures, the research process and the role of scientists. But we cannot blame people for not understanding such a complex field – without a lengthy education in the topic, you can be forgiven for having doubts and concerns about your health and wellbeing.
Finding a cure
One of the most common misconceptions that plagues health research is the idea of ‘cures.’ Whilst striving to cure disease is a valiant goal, not all research achieves this, nor does it even aim to. Most publications simply describe the discovery of biomarkers and how things ‘work’, and the therapeutic avenues these findings open up.
Even in studies where a potential cure is tested, it is often trialled only in mice or other non-human organisms. And whilst a study may report that the animals were ‘cured’, these results may not translate when investigated in humans. A famous example of this is cancer research, where many popular slogans describe the need for a ‘cure for cancer.’ Cancer is actually a range of diseases, and whilst individual cures may be possible, developing treatments that tackle all cancers is an unrealistic challenge.
This kind of thinking can often lead people to wonder what on earth is going on in a research lab. Some believe that cancer research has been going on for so long, on such a large scale, that if a cure could be found it would have come by now. Some individuals also believe that the cure is being ‘hidden’ – so that pharmaceutical companies can cash in on treatments. This can have devastating knock-on effects if people lose faith in research, potentially halting charity donations due to the idea that the money must not be being used properly.
As for hiding a cure for cancer, a mathematics expert has tackled this claim head on. By figuring out how many people would need to be involved to find this cure, and the length of time it takes the average person to blab, he concluded that this secret would be far too difficult to keep long-term.
However, the real research, even if it does not match expectations, can be lifechanging for people with certain diseases. For example, just this year the first life-extending cervical cancer treatment was approved in over a decade. And even more recently, AI techniques have been developed to predict the risk of pancreatic cancers. These results are amazing feats in their own right and have transformed the field of cancer care. But, because people believe misconceptions that a cure is the goal, these findings can be overlooked, or their impact understated. And when the media report on so-called cures in mice, people can be left wondering ‘why is this not being offered to humans?’
The designer baby
We’ve all heard of designer babies and apparent stories of parents who want their children to look a certain way. The advent of selective IVF – in which embryos undergo genetic tests prior to implantation – has perpetuated this idea. Whilst selective IVF is highly regulated, and ethical issues certainly do exist, most parents who undergo this procedure do so to ensure their infant avoids life-threatening disease.
Still, a quick Google search would have you believe parents undergo this arduous procedure just to choose their child’s features. A 2019 news article even states that IVF parents may be able to choose the ‘smartest’ embryo – something that is not yet reality, despite what a quick glance at the headline might suggest.
Misunderstandings around these processes have led to fears about eugenics in recent years. Whilst this topic is deserving of considerable discussion, the reality is that selective procedures are generally not done with the intention of eradicating a population or improving humanity using genetics. But, given that eugenics is a very real fear – especially for those from certain minority communities – we must strive to understand the sources of people’s concerns, rather than simply claim that they are wrong.
A school of thought
So, where do these misconceptions come from?
They can stem from early childhood and the limited education we receive about certain topics. We’ve all been told we inherited features from one parent or the other, but the intricacies of this process are often overlooked.
Further, the education system provides a basic overview that explains biology at a fundamental level without providing the complete picture. For instance, high school biology classes typically focus on simplistic concepts like Punnett squares and Mendelian genetics, neglecting more complex inheritance mechanisms.
Although these concepts have their value, the majority of human traits do not follow a simple monogenic pattern of inheritance. Instead, they involve the interaction of multiple genes in complex ways, resulting in the manifestation of intricate phenotypes. A common misconception is the belief that eye colour is determined by a single gene, with blue eyes being recessive, brown eyes being dominant, and green eyes being non-existent within the scope of high school biology lessons. In fact, a 2020 study revealed that nearly half of all high school students believe varying misconceptions about genetics, which often stem from the topic being too broad and abstract. And in a 2008 essay competition, many high school students packed their work full of misinformation.
Of course, there is a need to simplify when teaching young people – the intricacies of genomics and biological processes can barely be covered in a degree, let alone a high school science class. This need for simplification applies to all subjects, but holds particular significance when it comes to preparing young people to navigate the healthcare system.
Myths in the media
That said, it is unfair to solely blame teachers and educators for these miscommunications. Another significant source of misinformation stems from the media we consume. Genomics, in particular, seems to be more susceptible to such misrepresentation than other fields. An iconic film franchise that exemplifies this is Jurassic Park. Whilst the series was entertaining, the processes used to clone the dinosaurs was highly unrealistic – dashing the hopes of those who may wish to see the return of other extinct creatures.
Similarly, the entertainment industry tends to perpetuate the misconception that all mutations are negative. This is a common trope in science fiction and superhero films where mutations are depicted as a basis for discrimination. In reality, all genetic variation originated from a mutation, and everyone is born with at least 70 de novo mutations. However, this does not make you a ‘mutant’ and it is, unfortunately, unlikely that any of these mutations grant superpowers.
Although entertainers may need to stretch the truth for the sake of enjoyment, these misconceptions can have detrimental effects on people’s understanding of crucial health-related matters. A notable example is the movie Contagion, which, despite bearing genuine similarities to the COVID-19 pandemic, portrays a highly unrealistic sequence of events regarding vaccine development and deployment. And while these movies are primarily meant for entertainment, for individuals who have limited exposure to the topic, such media may unintentionally shape their understanding of the subject.
Straight from the horse’s mouth
But whilst we know that these movies are fake, what happens when real-life research is presented in a misleading manner? Real-world news can be filled with misinformation too, and this is more harmful than filmmakers taking liberties for the sake of entertainment.
Often, a short and snappy headline will be used to draw in the reader’s attention. However, this can be harmful when people do not read beyond the title. Classic examples of this are headlines that suggest that certain actions increase one’s risk of cancer. While these associations do exist, usually the risk is minor – although the headline wouldn’t make you feel that way. Misleading headlines also act to perpetuate the afore-mentioned myth about cures for cancer and other diseases.
But it is important to remember that most journalists do not have scientific backgrounds. How can those without a grounding in science always be expected to write a convincing news story without oversimplifying it? And in fact, a significant portion of misleading headlines and articles don’t come from journalists – they come from the scientist.
Often, journalists will build their news around a press release. However, a 2014 study showed that a significant number of scientific press releases from top UK institutions contained exaggerations, implied results in humans when the study was in animals, and even mixed up correlational and causation. A further analysis of traditional news stories showed that there was a striking correlation between misleading press releases and further miscommunication by journalists. And while it is somewhat understandable that a scientist may want to polish up their work for the masses, this can lead to a game of Chinese whispers when a dubious press release is further interpreted by a journalist and passed onto the unsuspecting public.
Aside from simply misleading people, these misconceptions can have lasting and significant consequences for health research and implementation. For example, misgivings around novel technologies could lead to nervousness and reluctance to obtain life-saving treatment.
Likewise, a flawed understanding of science can make it difficult to give consent to treatments, tests and research. The basis of informed consent hinges on an individual’s understanding of the topic, and it is unethical to administer a treatment or recruit someone to a trial when this understanding isn’t there. Nor is it ethical to try and convince someone to have a treatment they do not want.
This raises questions around the morality of forcing people to undergo certain procedures. Ultimately, as seen during the COVID-19 pandemic, the idea of mandating vaccinations to obtain access to various institutions was quickly abandoned, as a person’s ability to make their own medical choices was seen to be vital. And, in many cases, people had legitimate reasons for not taking their vaccines. But with new technology and processes constantly entering our healthcare system, how can we compel people to trust in the science, particularly genomics?
Obviously, one of the most important things that can be done is to improve education on the topic. However, it can be tough to implement a full genomics curriculum in schools when there is so much else to learn. That said, conversations around common myths and scientific ethics could go a long way to tackling some of these problems.
Additionally, this education must continue beyond school. For example, in Japan, some nurses took part in a pilot study to improve their genetics knowledge. And, crucially, people must be given space to address misconceptions and falsehoods in a safe space, without fear of judgement.
However, the most important step to tackle these myths and fears has to come straight from the researcher themselves. Better public engagement by researchers can cut out the middle-men when reaching the public. This allows them to share work in their own words with less opportunity for miscommunication. This is becoming more common, and more training is available on how to communicate without including falsehoods, jargon and exaggeration. Furthermore, a push to include patients in research can help with this. By having members of the public, without science backgrounds, help with communications, you can ensure the work is digestible for those who need to understand.
We’re certainly living in a world where communication is endless, and often exhausting. With the increasing use of social media, misleading facts can be spread quicker than ever before. But most people are not ‘stupid’ or trying to intentionally mislead – often they are simply scared. Tackling people’s fears is a huge, but important, challenge, and efforts from researchers, the media and educators need to address this.