Complete DNA sequencing should not be feared according to researchers

It is now much easier than before to do a complete DNA sequencing of patients to look at all the three billion letters that make up a person’s genetic code or genome. DNA sequencing prices have fallen and it could soon be a part of routine medical tests experts suggest. However there is public fear associated with complete sequencing. Researchers looked at the fact if this fear was actually justified.

Complete DNA sequencing should not be feared according to researchers - Image Credit: gopixa / Shutterstock
Complete DNA sequencing should not be feared according to researchers - Image Credit: gopixa / Shutterstock

According to this new study published in Annals of Internal Medicine, the amount of information genetated out of complete genome sequencing or whole genome sequencing (WGS), can be overwhelming. Teri Manolio, director of the division of genomic medicine at the National Human Genome Institute, which funded the study who wrote an editorial that was published alongside the paper said that genome sequencing could be done in “normal, healthy individuals without adverse consequences” and could lead to some valuable information.

Jason Vassy, lead author and researcher at the VA Boston Healthcare System and the Brigham and Women's Hospital, explained that the level of hope surrounding this new technology runs parallel to the levels of fear. The information avalanche from these tests could confuse the doctors and patients and lead to anxiety and stress he explained. It could also lead to unnecessary and even dangerous follow testing and treatment he said. So for their study they wanted to see if this amount of anxiety and fear around this testing was actually warranted.

For their study termed MedSeq Project, the team looked at 100 healthy, middle-aged patients (aged between 40 and 65) whose primary care physicians asked them if they would like to undergo complete genome sequencing. Nine physicians participated in the study. They divided the participants into two groups. One half had their DNA sequenced for nearly 5000 rare genetically predetermined diseases. The other half was given questionnaires regarding presence of diseases in their family. This is the traditional way of detecting a person’s risk to a genetic disorder.

Results showed that of the 50 volunteers who got genome sequencing, around 1 in 5 had a variant in their genome that could lead to a rare and/or serious genetic disease. According to Vassy this was higher than expected. It was more unexpected because these individuals did not have any problems and did not think they could have any genetic diseases. The participants were followed up for 6 months. What was unexpected was the reaction of the physicians as well as the patients. There was no fear, anxiety or overreaction to the results found researchers. The patients were given useful information regarding their risks and possible course of action. There were no cases of anxiety or depression. Manolio writes that these individuals could use the information to plan their families as well. Many altered their lifestyle to reduce their risks.

Not all experts are convinced though. Some fear discrimination on the basis of results while some feel it is too premature to understand the impact of these tests. Getting insurance would also be a challenge feel some experts in the field. They suggest more research be done before making it a routine procedure.

Companies have taken the opportunity to make genome sequencing kits available for testing.

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