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Unable to make a diagnosis, doctors turn to DNA technology

Researchers have been sequencing DNA for years in an effort to identify pathogens. However, DNA analysis hasn’t been widely used to diagnose individual patients’ infections because of the time involved in sorting through DNA fragments that might number in the millions. Yet software is already being developed that can compare DNA fragments with databases of stored genetic sequences.

In a procedure that is believed to be the first of its kind, doctors extracted a sample from a 14-year-old patient’s cerebrospinal fluid and used DNA analysis to identify a pathogen that was causing the boy’s encephalitis. The boy had suffered through multiple diagnostic tests for weeks, all of which failed to identify the cause. 

Luckily, it only took researchers two days to spot the DNA of an obscure bacterial strain in the sample. They treated the boy for that particular type of bacteria, and he began to recover within a few days.

Ideally, doctors would like to have technology that could analyze a patient’s DNA sample for a whole host of potential pathogens, whether viral, bacterial, fungal or parasitic. Although there are some genetic sequences stored in online databases, there is not yet a single test that could accomplish that diagnostic goal. In fact, such DNA technology is still considered experimental, rather than standard practice.

From the perspective of a medical malpractice attorney, a doctor’s duty to diagnose a patient’s illness may not end when conventional testing techniques are exhausted. At a minimum, patients may have the right to know about additional diagnostic options. Keeping patients fully informed is part of a doctor’s duty of care, and breaches in that duty that result in injuries could be viewed as negligence in the eyes of a jury.

Source: The New York Times, “In a First, Test of DNA Finds Root of Illness,” Carl Zimmer, June 4, 2014 

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