I’ve noticed over the last few weeks that many TGMI blog posts address challenges that specifically related to communication in genetic medicine. I wanted to highlight some of these mentions here, to illustrate that not all issues in genetic medicine are scientific or medical challenges. Sometimes it’s all about the way we share information with each other.
Identifying communication gaps
Looking back at recent blog posts, these are some of the communication challenges the TGMI team members noticed:
- Patients are better informed about genetic testing than they used to be.
- Some tools and resources are more suitable for researchers than for a clinical environment.
- Literature search tools aren’t perfect when it comes to searching for gene-disease information
- Communication about VUS’s isn’t always helpful, and can even be misleading.
- Sharing meaning of genetic information is as important as sharing data.
- Gene symbols are inconsistently used.
These are just some things that came up on the TGMI blog in the past few months, and while they look like very distinct problems, they are all about communication.
Where does communication happen?
Of course an important point of communication is when patients need to understand the result of their genetic test and the implications of that result to a degree that allows them to make decisions about their own health. But communication isn’t always about communication to patients or to a broader audience of non-experts. Even amongst themselves, researchers encounter communication challenges, with gene names being used inconsistently or inconsistent use of terms that articulate important issues such as the mode of inheritance, the risk of associated disease occurring, inconsistent methods used for annotating variations in genes and even many different ways of describing diseases or disorders and their consequences.
When clinicians and researchers need to use the same information, such as the link between a gene and a disease, the requirements they have for how that information is presented can be very different: Do they need it to understand genetics in general, or do they need it to very specifically understand the role genetic changes can have in one particular disease?
When two people talk to each other about genetics, they make assumptions about the level of “genetic literacy” the other person has. As Jennifer mentioned in last week’s blog post, the general level of genetic literacy has increased over the years. More people than before now know enough about genetics to talk about it in the context of a discussion about their health and hereditary conditions.
Still, this doesn’t mean that all problems surrounding communication about genetics with non-experts have now been solved. For example, various studies have looked at communities where there is less awareness about genetic testing, or where a culture or language barrier affects communication. .
We’re never going to get everyone at the same level of genetics knowledge, but that isn’t necessary either. Genetically literate people don’t need to know everything about genetics. They just need to have access to support and tools to help them find and understand relevant information – and what’s “relevant” is different for everyone. However it is important to improve the consistency in how different resources and tools use terms to describe genetic variation and the possible links those have to disease risk.
Communication between experts
The same is true for communication between researchers and clinicians, or between researchers in different fields. They can’t all be expected to know all the details of each other’s expertise, but they need to have a way to look up and extract the intended meaning from the information shared through publications, databases and other resources.
Last year, the American Heart Association published a statement to highlight this issue. They pointed out that researchers are rapidly finding new information about the link between genetics and cardiovascular disease, but that the clinician specialists who work with cardiovascular and stroke patients can’t keep up with all this new genetics knowledge. The Association provided recommendations on how clinicians can acquire and maintain genetics competencies, and emphasised that clinicians not only need to have access to continued education about genetics, but also to tools and resources: “The eventual goal is to empower and enable the cardiovascular clinician to understand, interpret, and apply genetic information to patient care in an effective, responsible, and cost-efficient manner.”
Everyone has communication challenges!
These challenges aren’t unique to genetic medicine. They’re all broad problems related to many areas of communication. Because these challenges are so ubiquitous, they are themselves the subject of academic study. Even just within science, there are fields such as Science of Team Science, which looks atcollaborations and effective communication between researchers, and Science of Science Communication, which studies how scientific information is disseminated to others.
Some studies look specifically at communication related to genetics and genomics. For example, how genetic literacy is measured, or how population sciences influence translational genomics.
Any other examples?
The list at the top of this blog post only includes a few examples of communication challenges in genetic medicine, just enough to give you an idea of some of the different areas where communication is key. I’d be curious to hear whether you have come across any other instances yourself – either from your own experience or something you’ve heard or read about.
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