Conventional DNA sequencing may be helpful, rather than frightening.


Conventional DNA sequencing may be helpful, rather than frightening.

Advances in technology have made it easier, faster and cheaper to sequence the entire genome – spelling out all three billion letters in a person’s genetic code. The falling costs have led to speculation that it could soon become a regular part of medical care, perhaps as routine as checking blood pressure.

But can this test, which can be $1000, prove useful, or unnecessarily scary?

The first rigorously controlled study to answer this question suggests that doctors and their patients can handle a large amount of information produced by tests. The study was published Monday in the annals of internal medicine.

The research project funded by the national human genome research institute, director of the department of genome Teri Manolio said: “we can actually take place in a normal, healthy individual genome sequencing, and does not produce any harmful consequences. Manolio wrote a review in his paper.

Virginia Boston healthcare system and the brigham and women’s hospital researcher Jason west (Jason Vassy), who led the study, he said: “for the new technology of excitement and hope so much, and how will it change medicine. “But at the same time there are a lot of concerns and concerns.”

Vassy acknowledges that conventional genome sequencing may confuse doctors and patients, sometimes even worrying, leading to anxiety and stress, as well as costly and sometimes dangerous follow-up tests.

So he and his colleagues tried to find out the results of routine tests in general medical conditions. They studied 100 healthy middle-aged patients who were randomly asked if they were interested in genomic sequencing.

Half of the volunteers scanned their DNA for genetic mutations that could lead to nearly 5,000 rare genetic diseases and other genetic markers. The other half answered questions about family diseases – the traditional way of finding genetic risk.

One of the volunteers, Renee duchainey-farkes, 63, runs a primary school in Boston.

“I’ve always been fascinated by genomics,” says duchainey-farkes. “So I’m very excited, but at the same time nervous, because it’s like, ‘I really want to know, isn’t it good? ‘”

After 50 volunteers were sequenced, the researchers found that about a fifth of them had a mutation in their genome that was associated with rare, and sometimes severe, genetic diseases.

“This is higher than we expected,” Vassy said. “These people are generally healthy middle-aged people who have never thought of having a genetic disease in their lives.

Most of them were fine, but what happened next surprised the researchers: neither the volunteers nor the doctors were overreacting.

“We were pleasantly surprised to find that primary care physicians were able to properly manage the patient’s genetic outcomes,” Vassy said. “Patients are usually able to process this information without causing increased anxiety or increased depression.”

Researchers report that many patients also receive useful information.

Duchainey-farkes said she found out why she had a strange rash and severe sunburn. As it turns out, she has so far been a very mild version of variegate porphyria, a rare skin disorder. As a result, her doctor gave her a list to stay away from drugs because they could worsen the condition.

“So I think it’s a very positive result,” said duchainey-farkes.

She also found that she may be vulnerable to diabetes, so she worked harder to watch her weight and eat better, she said.

Ilena wardenska, a 46-year-old finance professor in brookline, mass., learned that her genetic variation could put her at risk of heart problems. A follow-up test found that her heart was right. But Vodenska is still happy that she did.

“It makes me think,” Vodenska said. “It satisfied my curiosity, which made me change something in my life.” She can only walk instead of driving, and she tries to eat better.

Manolio says the researchers who knew they were carrying mutations associated with rare diseases might use the information when planning their families.

Others, however, remain sceptical.

James Evans, a geneticist at the university of north Carolina at chapel hill, said: “in my opinion, the enthusiasm of many people for genomic sequencing in the general population has been greatly reduced. “This study shows that, in this regard, the daily rules are very immature and may lead to more prank than profit.”

Others worry that people who are ordered will be discriminated against.

“This information can be accessed by a third party,” said Mark Rothstein, director of the institute of bioethics at the university of louisville and director of the institute for health policy and law. For example, he said, “apply for personal insurance or disability insurance or long-term care or something.”

Vassy and Manolio admitted that the patients in the study were more affluent than the general population and were more exposed to education. Doctors also receive additional training in interpreting genetic information. They stress that more research is needed before sequencing becomes commonplace.

But some private companies have begun selling genome sequencing to people who are genuinely curious about the secrets that may be hidden in their DNA.

Human Longevity, Inc. Brad Perkins, chief medical officer, said: “we believe that whole-genome sequencing is going to be a much faster part of the medical practice base than people think.

“It’s a whole new way of looking at it,” said Mirza Cifric, chief executive of Veritas Genetics. “By sequencing your entire genome, you have an asset for life, you have a digital version of yourself, and you can go back to all sorts of reasons.


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