For more than a decade scientists have discovered that a genomic revolution is transforming medicine, the genome scan of a person’s DNA can predict risks and customize medical care. Researchers at Stanford University tested the technology on 12 people, and they are not satisfied with the technology’s performance. The genome scanning uses the machines to harvest through a person’s DNA searching for variations that could be linked with a disease, and it’s not quite ready for the doctor’s office.
The machines are able to trace a whole-genome scan in twenty-four to forty-eight hours. Unfortunately, the Stanford researchers compared the genome scans between the two different machines, and they found that the results matched just one-third of the time for genetic variants that could signal a risk of inherited disease. The article emphasizes the accuracy and the process of high-speed sequencing machines that can read and analyze one genetic code in less than a week.
Nancy Shute, “Whole Genome Scans aren’t quite ready for your doctor’s office,” NPR, March 11, 2014.
Student Researcher: Natnicha Detphan, Indian River State College
Faculty Evaluator: Elliot D. Cohen, Ph.D., Indian River State College
All genome sequencing machines are designed to read DNA, and it used to take years for the scientist to read and analyze one genome but how accurate are these machines? The researchers found the negative side of this incredible technology; they discovered that two different versions of the machines produced very different results and genetic information. This raised some concerns because it indicated that testing will produce an incorrect information to the detriment of patients.
Healthcare professionals are also questioning if they should use genome sequencing on newborn babies. “Instead of screening for currently something like 30 conditions, it would allow you to screen for hundreds, if not thousands of conditions at birth,” says Dr. Alan Guttmacher, director of the National Institute of Child Health and Human Development. Sequencing a newborn could recognize babies’ conditions such as diabetes, obesity, or cancer and provide clues about how to help them live healthier lives but what are the implications of the genetic screening on the newborn? Stefan Timmermans, a sociologist who studies newborn screening at UCLA stated “The reality is that there’s a lot of uncertainty about each of the data points you receive. So if people start making health decisions or life-or-death decisions based on information that is so tenuous at this point, I think this could indeed be a nightmare scenario.” It could raise some concerns to the parents because they think there is something wrong their newborn and the information about the health of their baby could be overwhelming at a sensitive time for the family. Parents may overreact to the ambiguous information and the small amount of data about the baby’s health, but the test may be inaccurate.
Developments of the new genetic sequencing have also evolved to sequence a fetus in the womb, but this new phase of the genome sequencing is not fully developed. The researchers are debating whether to continue testing the sequencing of a fetus, but the sequencing could help pregnant couples make important decisions. “Parents could elect for termination of the pregnancy in connection with the diagnosis of a particular disease and in other circumstances, there may be opportunities for treatment of the fetus during pregnancy, as well as for treatment after birth,” said Dr. Jay Shendure. The implication of this is that parents might use sequencing to pick and choose babies who would look a specific way, or who would become a genius when he or she grows up. “Parents will take that information, that computer readout, maybe go home and say, ‘I want this child’ or ‘I don’t want this child,’ and a parent may decide, ‘I want a child of lighter skin tone,’ ‘I want a girl with blond hair and blue eyes, and this child doesn’t have it,’ and so on and so on,” says Ronald Green, a bioethicist Dartmouth University.
This new technology may therefore raise more ethical problems than what it’s worth. In any event, whole-genome sequencing is not yet ready for your doctor’s office.