Genetic analysis may change "healthy people" to "sick"

By· S

Just by collecting and sending saliva, it is possible to collect 150 of such things as cancer, cerebral infarction, diabetes, etc.Genetic testing kit that will allow you to investigate the risk of developing the diseaseThere is such thing as knowing your genetic information, such as appearance, is familiar. But,The MedSeqAs a result of genome analysis of 100 people in the project named, one in every five people found that "there is no subjective symptom of the disease at all while possessing genetic mutation that causes genetic disease". By genome analysis, the possibility that a person who thought it was "healthy" became a "sick person" has emerged.

Genome Sequencing in Primary Care | Annals of Internal Medicine | American College of Physicians

DNA Testing Reveals the Chance of Bad News in Your Genes - MIT Technology Review

In the The MedSeq project, 100 subjects who seemed to be healthy at first glance, who came to receive primary care, were examined as subjects. Genomic analysis of 50 of them revealed that one out of five had gene mutations that are thought to cause rare genetic disorders. At this time, 11 of the genome analyzes, ie 22% had mutations in one of about 5000 genes involved in rare hereditary diseases, but there was no awareness of the disease at all.

For example, Peter Ting, who is 60 years old, participates in the survey to find out whether there is a possibility of trouble with diabetes and the thyroid gland. This is because there were people with cases in the family. However, the result of the genome analysis is that there is a mutation in Ting's gene that causes an inherited disorder of the eyes. Originally Ting was not good at accustoming eyes to the darkness, but he seems to have never thought that it was a hereditary disorder. In addition, among 50 subjects who performed genome analysis, only two people including Ting realized the symptoms caused by genetic mutation, and the remaining 48 people did not realize the symptoms about.

ByStuart Caie

Perform genome analysisIlluminaIt is a counselor ofNational Society of Genetic CounselorsErica Ramos who is the next representative of the company emphasized that factors such as age, gender, lifestyle, environment, etc. other than genes are involved in the disease in response to the results of this survey. "Even if gene mutation causes disease, certain gene mutation does not necessarily manifest as a disease". this isIncomplete penetrationIt is said that even if our genes are mutated with a probability of 1/5, it is not a situation that requires urgent genome analysis. Ramos says that genome analysis is beneficial for those who do not know about family medical history, but not necessarily all of them.

In addition, those who received the results of the genome analysis tests in this survey said that the expenses for health care 6 months after the survey was $ 350 (about 39,000 yen) higher than those in the control group. I do not know if this spending is directly related to genome analysis, but Jason Vassy, ​​associate professor at Harvard Medical School, says "Science on genome redefines the meaning of health" It is thought that people informed of the possibility of illness may have gone to a medical facility for further examination.


in Science, Posted by darkhorse_log