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“One-fifth of healthy people carry genetic mutations associated with disease†– two recent findings from a genome-wide sequencing research project. Scientists have confirmed through small-scale clinical trials that even if it looks healthy, it is possible to carry a mutant gene. However, whether these genetic mutations that have not yet caused disease are necessary for detection, more research is needed to confirm.
The Science and MIT websites have launched a newsletter on the theme of "sequence sequencing for healthy people", revealing the latest results of two research projects: 1/5 "healthy" adults carry mutations related to diseases!
This conclusion will undoubtedly once again detonate the debate on gene sequencing: Some people think that its emergence and development make prediction and diagnosis of diseases more convenient and accurate, and it is expected to become the cornerstone of preventive medicine; others believe that genetic testing will cause unnecessary medical treatment. Cost and psychological burden.
The first randomized genome-wide sequencing project for healthy people
The first research project, called "MedSeq," consisted of research teams from VA Boston Medical Systems, Brigham and Women's Hospital, Harvard Medical School, Baylor College of Medicine, Oregon Health and Science University, and Broad Research Institute. carry out. They recruited 100 healthy adults as subjects and randomly selected 50 of them for whole-genome sequencing. Through the in-depth interpretation of each person's 3 billion base pairs, find the mutations.
This first randomized genome-wide sequencing trial of healthy people showed that one in five healthy adults carries a risk marker for a rare disease or a cancer-associated mutation. Related research results are published in the journal Annals of Internal Medicine.
Peter Ting is a 60-year-old who has retired. He looks healthy and has difficulty adjusting his eyes to the dark. He never thought that this symptom was related to genetic mutation until he participated in the MedSeq project. Genomic sequencing revealed that he carried a genetic mutation associated with a rare hereditary eye disease.
The research team broadened the screening to nearly 5,000 genes associated with rare inheritance. The results showed that 11 out of 50 healthy people (22%) carried at least one genetic mutation associated with a rare genetic disease. However, most people do not show any symptoms. Two of the volunteers carried mutations that caused abnormal heart rate, but their heart tests were normal.
Jason Vassy, ​​a primary care physician and assistant professor at Harvard Medical School, said: "This means that you may not be ill, or you are not sick."
Of the 11 people carrying rare mutations, only 2 showed symptoms, one of which was visually impaired Peter Ting, and the other had a rare disease, variegated mottled porphyria, which was abnormally sensitive to sunlight. “Now, we have found the reason to know that we can alleviate skin burns by avoiding sunlight or certain drug stimuli,†explains Jason Vassy.
17% of people carry one or more genetic mutations
Like the MedSeq project, Professor Michael Snyder from Stanford University led a team to perform full exon sequencing on 70 healthy adults. The results showed that 12 of them (17%) were unknowingly carrying one or more DNA mutations that increased the risk of genetic disease.
The study was published on bioRxiv on June 18 and has not been peer reviewed. Michael Snyder argues that whole-genome sequencing should be “automatically†included in primary health care.
Barbara Koenig, a medical anthropologist at the University of California, San Francisco, believes that "gene information is similar to an important cultural symbol, and we need to give it more rights. But the clinical application of these sequencing technologies is still in its infancy."
Redefining health? Should healthy people receive whole-genome testing?
“What is the standard of health? I think genomics will redefine it,†Jason Vassy said.
Does the health of a person receiving a genetic test outweigh the disadvantages? There is no answer at present because we do not know the probability that a healthy person carries a hidden gene mutation. These studies opened a window, but still not enough to prove that gene sequencing should be widely used.
According to Erica Ramos, scientific consultant at Illumina, these findings suggest that factors other than genes, including age, gender, lifestyle, and environment, can also affect disease development and progression. She believes that a specific genetic mutation does not necessarily lead to disease, even if it is indeed associated with the disease.
Some researchers worry that whole-genome sequencing can cause additional medical costs or create unnecessary psychological burdens. However, in addition to the initial sequencing costs of the MedSeq project (the research project undertakes), the patient's health care costs for the next six months only increased an average of $350. For the psychological burden, the researchers found that neither the sequencing group nor the control group showed emotional changes such as anxiety or depression.
Ramos believes that this research does not mean that everyone needs to catch up with the trend to accept gene sequencing. In some cases, whole-genome sequencing can be helpful, such as a family history unknown. This result is also relevant to other members of the family for those who participated in the study and were found to carry the mutated gene but did not show symptoms of the disease.
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