One in five healthy adults or carry a genetic mutation that causes disease

scientists dream of using simple DNA scans to diagnose disease, or at least predict disease risk. But others say the approach, which could soon become the basis of preventive medicine, is not worth the economic or social costs. Now, two new studies have introduced data to the debate, one of which is the first randomized clinical trial to assess the overall genome sequence of healthy people. Both studies showed that one in five people who measured a healthy adult genome sequence showed a risk marker for rare diseases or cancer-related genetic mutations.
is still uncertain about what this means for those people and all health care systems associated with genetic screening, but some people concerned about the study welcomed the findings. Barbara Biesecker, a social and behavioral researcher at the National Center for Human Genome Research in Bethesda, Maryland, said: "It's remarkable that we're working on implementing this new technology, rather than worrying about it with our backs and without evidence. The
first genomic test study looked at 100 healthy adults who reported family genetic history to primary care physicians. Next, half of them were randomly assigned for additional genome-wide tests, a process that cost about $5,000 each to examine about 5 million tiny DNA sequence changes in 4,600 genes, known as single nucleotide mutations, that sequenced far more than currently recommended by the American Academy of Medical Genetics and Genomics (ACMG), which recommends telling people only about 59 genes or potentially significantly pathogenic test results.
Of the 50 people sequenced, 11 had at least one mutation that could cause disease, usually a rare disease, the researchers reported in a June 26 article in the Analmanac of Internal Science,
. One of the patients was extremely sensitive to the sun. Its DNA reveals a skin disease called diversity rickets. "Now, these patients know that if they are less exposed to the sun and some medical methods, they are much less likely to be burned by sunlight and have a rash." The study's lead author, a clinical expert on primary care in the Health Care System at the Boston Department of Veterans Affairs, said.
the team also found that each sequencing patient carried at least one recessive mutation associated with a disease -- a single copy of the gene mutation that could cause disease if two copies appeared. This knowledge can be used in fertility decisions (a couple can be tested to see if they carry a matching mutation) and to have family members detect their mutation carrying status.
vassy called "somewhat controversial results," the team examined participants' chances of developing eight multigene diseases that were rarely associated with individual gene variants. They edited the overall effects of these multigene variants (70 for type 2 diabetes and 60 for coronary heart disease) to predict the risk of developing the disease in patients.
16 percent of the volunteers who reported their family history had consulted a genetic consultant or conducted follow-up laboratory tests. In the genomics test group, the figure was 34%.
researchers have expressed concern about similar genome-wide sequencing, arguing that it could lead to soaring medical costs or excessive psychological harm. In addition to the initial sequencing costs, which were covered by the study, people who took genomic measurements paid an average of another $350 over the next six months, Vassy and colleagues reported. However, contrary to the fear of emotional trauma, the sequencing or control group showed any changes in anxiety or depression within six months of the study.
Vassy stressed that their study was small and required further follow-up, but that the study still impressed Christa Martin, a geneticist at the Danville-Isinger Health System in Pennsylvania, who has advised on the sequencing of the ACMG genome. "I even think the author underestimated his research." "Many of their patients are making changes in healthy behavior, so they're using information in a positive way," she said. Another
, published earlier on the preprinted text server bioRxiv, has not yet been peer-reviewed, but has had similar results. The study used all-exon sequencing to examine genomic protein coding regions, and Michael Snyder, director of the Center for Genomics and Personalized Medicine at Stanford University in California, and colleagues found that 12 out of 70 healthy adults were unaware of one or more DNA variants, increasing the risk of genetic disease.
two studies, Snyder said doctors should jump out of the 59 priority genetic ranges listed by ACMG. He believes genome-wide sequencing should be "automatically" incorporated into primary care. "You may have a lot of concerns, but I think this information is still very useful for doctors." However, Vassy says there is not enough evidence for insurers to reimburse healthy people for genome-wide sequencing.
"We wanted to fix it quickly, and now genes have become an important cultural symbol, so we may have given it more power than it really can do." Koenig said, "It's still a bit premature to apply these techniques to the clinic." (Source: Science.com Jinnan Compilation)