The world is on the brink of an era of personalised medicine where genetics & genomics play a major role, but what about the patients? Are we there yet? Are we ready to perceive and to cope with the available information? Are we ready to know?

There is an ongoing question about what would we do if we were ever diagnosed with one of the diseases that terrify us. We hear about it all the time. Risk factors, lifestyle changes, healthy diets, genetics and hereditary risks, tests we should take when we reach a certain age etc.

“When James Watson got his genome, he said he wanted to learn everything about it except for one thing: there’s a gene which gives you a feeling for your risk of Alzheimer’s disease. If you have one copy of it, you’re at about 3 times the risk of getting Alzheimer’s disease. If you have 2 copies of it, you’re at about 10 to 15 times the risk. So that’s a substantial risk marker…It really means something in the world.” Robert C Green, Neurologist and Epidemiologist, Boston University

3 important factors – Do we really want to know?

“If you’re thinking about whether you would want the certain test or not, it seems to me there are three things that you’re going to want to know about that test: what kind of risk i.e. how much risk is it able to provide you with? Second, what’s the burden of the disease? If it’s cancer, you’re probably pretty interested in knowing about that… But if it is wet ear wax, you’re not maybe quite as driven to get that information. Third factor is: Is there any intervention? For Alzheimer’s – no. So even if the risk is high and the burden is high, the intervention is not there… But (in another case) if the risk is high and the burden is high and the intervention is lifesaving, then your interest goes up…” Francis Collins, geneticist & physician, National Institutes of Health

“I know what you told me, but this is what I think” – do you think this might be your reaction after receiving the test results?

You’re not the only one. How patients perceive the given information about the risk factors depends greatly on their psychological state, physical fitness (believe it or not, it has a great impact on our belief to overcome a certain disease), level of education, the amount and quality of received information etc.

“Clinicians and researchers should not assume that accurate patient recall of communicated disease risk means that the patient has internalized the communicated risk. Clinicians should consider asking their patients how they view the objective risk estimate and why they do or do not feel that the objective risk fully applies to them. By engaging in this type of discussion, clinicians have an opportunity to address some of the cognitive and psychosocial reasons why some patients do not fully adjust their perceived personal risk to match their objective disease risk. Through these conversations, clinicians may be able to reduce barriers to future clinician-patient communication, improve compliance with disease prevention recommendations, and encourage positive health behaviour change. Given that genetic susceptibility testing is likely to become an increasingly used tool in health care, it will be important to continue to investigate risk communication dynamics in this context to enhance patient and clinician education.” Nature

 A glimpse into the future

Genetic susceptibility testing for common, complex diseases is a rapidly growing field. At the same time, cutting edge scientific advances such as editing genes and rewriting genetic code is changing the way we perceive life, longevity, disease treatments and our own future.

“Zhang’s (Feng Zhang, now a core member of the Broad Institute of MIT and Harvard, who pioneered a powerful new gene editing system, CRISPR/cas9, that lets scientists rewrite genetic code) hope is that CRISPR will give us a better way to understand diseases, including depression, schizophrenia, autism and Alzheimer’s. “When the mechanism of disease isn’t clear, developing drugs is hard,” he said. “With CRISPR, we can start to understand the genetic basis of disease.” K.Lunau, Vice

Splice Summer series brings you a relaxed, interesting discussion with Francis Collins, geneticist & physician, National Institutes of Health and Robert C Green, Neurologist and Epidemiologist, Boston University about whether we are ready to know our own genes and if we are at risk to develop a certain disease.


By Tea Pavlek, MSc, BioSistemika LLC