Prenatal genome sequencing expected to pose challenges to doctors
Posted: August 27, 2012 at 9:10 am
Geneticists soon will be able to identify an unborn childs risk of developing chronic diseases later in life and possibly shed light on other traits, such as athletic ability and intelligence, medical experts say.
The source of such information probably will be the expectant mothers blood sample. For the first time, researchers recently extracted fetal DNA from a pregnant womans blood and examined the unborn babys genome.
The procedure prenatal whole genome sequencing is not yet available in the clinical setting. But some health professionals expect that pediatricians and family doctors soon will be sifting through sequencing results of infants and older children.
Key goals of the procedure are improving detection of serious genetic disorders before a child is born and helping create preventive care plans for conditions that young patients are at risk of developing as they age.
My instinct is this will be available certainly in the next decade, and probably sooner, said Benjamin E. Berkman, MPH, deputy director of the Bioethics Core at the National Human Genome Research Institute in Bethesda, Md.
But the medical community is not prepared to address the clinical challenges and ethical issues that probably will accompany the procedure, say some bioethicists and geneticists.
Such concerns could include physician uncertainty about which results to give to families and a potential rise in abortions due to parents worries about the comprehensive genetic findings, said an article in the July-August issue of The Hastings Center Report, a bioethics journal. Berkman is a senior author of the article.
The report calls for professional medical organizations to begin educating physician members about prenatal whole genome sequencing and how to discuss the procedure with expectant couples. Although the sequencing probably will be ordered by obstetrician-gynecologists, some patients might ask their primary care physicians about the procedure, health professionals say.
The report encourages the medical community to offer guidance on the types of genetic findings physicians should offer expectant parents. It also urges scientists to conduct more research into the kinds of information parents find relevant to reproductive decision-making and how health care systems should accommodate adoption of prenatal whole genome sequencing.
The tests are here, said New York geneticist Robert W. Marion, MD. Technology is going to advance, and the public is going to learn about this. The medical community cant sit back and wait for this to happen. We have to be very aggressive in getting the word out and training doctors in the significance of this procedure. Dr. Marion is chief of the divisions of genetics and developmental medicine in the Dept. of Pediatrics at the Childrens Hospital at Montefiore and the Albert Einstein College of Medicine in New York.
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Prenatal genome sequencing expected to pose challenges to doctors
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